No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures...
Transcript of No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures...
![Page 1: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/1.jpg)
Dr. Tudor H. Hughes M.D., FRCR
Department of Radiology
University of California School of Medicine
San Diego, California
Bone Dysplasia
![Page 2: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/2.jpg)
Benign Sclerosing Bone Dysplasia
• Osteopoikilosis
• Melorrheostosis
• Osteopathia Striata
![Page 3: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/3.jpg)
Osteopoikilosis
• Multiple bone islands
• Epiphyses > Metaphyses
• 1-10mm
• Appendicular and Pelvis
• Parallel to long axis of bone
• Skull, Spine and ribs spared
![Page 4: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/4.jpg)
Osteopoikilosis
25F
![Page 5: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/5.jpg)
Osteopoikilosis
25F
![Page 6: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/6.jpg)
Osteopoikilosis
Saq T1 Cor T1
![Page 7: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/7.jpg)
Multiple Sclerotic Bone Lesions
• Developmental • Bone islands
• Fibrous dysplasia
• Osteopoikilosis
• Osteopathia Striata
• Tuberous Sclerosis
• Neoplastic • Metastases
• Lymphoma
• Mastocytosis
• Healing benign or malignant lesions
• Myeloma
• Osteomata
• Multifocal osteosarcoma
• Idiopathic
• Vascular
• Traumatic
![Page 8: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/8.jpg)
Melorheostosis
• Molten candle wax
• Cortical and Periosteal
• Extend from bone to bone
• Usually one limb
• Occ bilateral and asymmetric
• Skull spine and ribs seldom
• Sclerotome
• Occ ST
• Spinal associated with lipoma and myelocele
![Page 9: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/9.jpg)
Melorrheostosis
25M
![Page 10: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/10.jpg)
Melorheostosis
19M 7
![Page 11: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/11.jpg)
Melorheostosis
19M 5
![Page 12: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/12.jpg)
Melorheostosis
19M 4
![Page 13: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/13.jpg)
Melorheostosis
19M 1
![Page 14: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/14.jpg)
Melorheostosis
13M
![Page 15: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/15.jpg)
Melorheostosis
40F
![Page 16: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/16.jpg)
Melorheostosis
40F
![Page 17: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/17.jpg)
Melorrheostosis Meningocele Lipoma
22M
![Page 18: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/18.jpg)
Melorrheostosis Meningocele Lipoma
22M
![Page 19: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/19.jpg)
Melorrheostosis Meningocele Lipoma
22M
Sag T2
![Page 20: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/20.jpg)
Sclerosis with Periosteal Reaction
• Traumatic • Healing fracture
• Neoplastic • Metastases
• Lymphoma
• Osteoid osteoma
• Ewings
• Chondrosarcoma
• Infective • Osteomyelitis
• Syphilis
• Idiopathic • Infantile cortical hyperostosis
• Melorrheostosis
![Page 21: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/21.jpg)
Osteopathia Striata (Voorhoeve's)
• Linear bands
• Parallel to long axis of bone
• Appendicular and Pelvis
• Skull and clavicles sparred
![Page 22: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/22.jpg)
Osteopathia Striata (Voorhoeve's)
38F
![Page 23: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/23.jpg)
Osteopathia Striata (Voorhoeve's)
38F
![Page 24: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/24.jpg)
Dense Vertical Metaphyseal Lines
• Congenital Rubella
• Osteopathia Striata
• Hypophosphatasia
• Localized metaphyseal injury
• Enchondromatosis
![Page 25: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/25.jpg)
Ollier’s Syndrome
• Multiple enchondromata
• Metaphyses and Diaphyses
• Multiple bones
• Not hereditary
• Appears in childhood
• Tends to be unilateral
• Vertical striated metaphyses
• Growth deformities
• Chondrosarcoma 25%
![Page 26: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/26.jpg)
Ollier’s Syndrome
![Page 27: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/27.jpg)
Olliers Disease
24M
![Page 28: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/28.jpg)
Medullary Lucency with Thin Sclerotic Border
• Geode
• Healing benign or malignant lesion
• Brodie’s abscess
• Benign bone neoplasm
• Simple bone cyst
• Enchondroma
• Chondroblastoma
• Fibrous dysplasia
![Page 29: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/29.jpg)
Maffucci's Syndrome
• Enchondromatosis
• With ST hemangiomas
• Phleboliths
• Malignant transformation 100%
![Page 30: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/30.jpg)
Maffucci's Syndrome
![Page 31: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/31.jpg)
Maffucci's Syndrome
![Page 32: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/32.jpg)
Expansile Lucent Lesion
• Primary Malignant Bone Neoplasms • Plasmacytoma
• Chondrosarcoma
• Telangiectatic osteosarcoma
• Secondary Malignant Bone Neoplasm • Mets
• Thyroid, Renal, Breast, Lung, Melanoma, Phaeo
• Benign Bone Neoplasms • ABC
• GCT
• Enchondroma
• Non Neoplastic • Fibrous Dysplasia
• Hemophilic pseudotumor
• Brown tumor
• Hydatid
![Page 33: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/33.jpg)
Madelung Deformity
• Radial bowing of radius
• Dorsal bowing of radius
• Posterior dislocation of distal ulna
• Steep carpal angle
• Volar and ulna angled distal radius
![Page 34: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/34.jpg)
Madelung Deformity
18
![Page 35: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/35.jpg)
Madelung Deformity - Causes
• Isolated
• Bilateral F>M
• Dyschondrosteosis (Leri-Weil)
• Bilateral with mesomelic limb shortening
• Multiple hereditary exostosis
• (Diaphyseal aclasis)
• Turner syndrome
• Post traumatic
• Post infective
![Page 36: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/36.jpg)
Bone Dysplasia
Terminology
• Acro • Tip
• Meso • Middle – Dyschondrosteosis
• Acromesomelic • Middle and distal – Chondroectodermal dysplasia
• Rhizo • Root – Achondroplasia, Chondrodysplasia punctata
• Phocomelia
• Varus – Distal deviated towards midline
• Valgus – Distal deviated away from midline
![Page 37: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/37.jpg)
Achondroplasia
General
• Defect of endochondral bone
• AD
• 80% spontaneous mutations
![Page 38: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/38.jpg)
Achondroplasia
Radiology - Skull • Large skull
• Small base of skull
• Small face
• Small sella
• Steep clivus
• Small foramen magnum
• Funnel foramen magnum
• Occipitalisation of C1
![Page 39: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/39.jpg)
Achondroplasia
Radiology - Skull • Large skull
• Small base of skull
• Small face
• Small sella
• Steep clivus
• Small foramen magnum
• Funnel foramen magnum
• Occipitalisation of C1
![Page 40: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/40.jpg)
Achondroplasia
Radiology – Axial Skeleton • Short ribs
• Concave ribs anteriorly
• Stubby sternum
• Decreasing interpediculate distance inferiorly
• Short pedicles
• Posterior vertebral scalloping
• Lumbar Kyphosis -> Lordosis
• Spinal stenosis
• Anterior vertebral body beak at T12/L1-2
![Page 41: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/41.jpg)
Achondroplasia
Radiology – Axial Skeleton • Short ribs
• Concave ribs anteriorly
• Stubby sternum
• Decreasing interpediculate distance inferiorly
• Short pedicles
• Posterior vertebral scalloping
• Lumbar Kyphosis -> Lordosis
• Spinal stenosis
• Anterior vertebral body beak at T12/L1-2
![Page 42: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/42.jpg)
Achondroplasia
Radiology – Axial Skeleton • Short ribs
• Concave ribs anteriorly
• Stubby sternum
• Decreasing interpediculate distance inferiorly
• Short pedicles
• Posterior vertebral scalloping
• Lumbar Kyphosis -> Lordosis
• Spinal stenosis
• Anterior vertebral body beak at T12/L1-2
![Page 43: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/43.jpg)
Posterior Vertebral Scalloping
• Tumors of spinal canal
• Neurofibromatosis
• Dural ectasia
• Acromegaly
• Achondroplasia
• Communicating hydrocephalus
• Syringomyelia
• Congenital syndromes
• Ehlers Danlos
• Marfan’s
• Hurler’s
• Morquio’s
• Osteogenesis imperfecta
![Page 44: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/44.jpg)
Anterior Vertebral Scalloping
• AAA
• Lymphadenopathy
![Page 45: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/45.jpg)
Achondroplasia
Radiology – Axial Skeleton • Short ribs
• Concave ribs anteriorly
• Stubby sternum
• Decreasing interpediculate distance inferiorly
• Short pedicles
• Posterior vertebral scalloping
• Lumbar Kyphosis -> Lordosis
• Spinal stenosis
• Anterior vertebral body beak at T12/L1-2
Bullet
![Page 46: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/46.jpg)
Anterior vertebral body beak at T12/L1-2
• Central • Morquio,s
• Inferior • Hurler’s
• Achondroplasia
• Pseudoachondroplasia
• Cretinism
• Down’s syndrome
• Neuromuscular disorders
Bullet
![Page 47: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/47.jpg)
Achondroplasia
Radiology – Axial Skeleton • Short ribs
• Concave ribs anteriorly
• Stubby sternum
• Decreasing interpediculate distance inferiorly
• Short pedicles
• Posterior vertebral scalloping
• Lumbar Kyphosis -> Lordosis
• Spinal stenosis
• Anterior vertebral body beak at T12/L1-2
![Page 48: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/48.jpg)
Achondroplasia
Radiology – Axial Skeleton
• Short ribs
• Concave ribs anteriorly
• Stubby sternum
• Decreasing interpediculate distance inferiorly
• Short pedicles
• Posterior vertebral scalloping
• Lumbar Kyphosis -> Lordosis
• Spinal stenosis
• Anterior vertebral body beak at T12/L1-2
![Page 49: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/49.jpg)
Achondroplasia
Radiology – Pelvis
• Champagne glass pelvis
• Square iliac bones
• Horizontal acetabular roof
• Narrow greater sciatic
notch
• Narrow pelvic inlet
• Low sacral articulation on
ilia
Newborn
![Page 50: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/50.jpg)
Achondroplasia
Radiology – Appendicular Skeleton
• Rhizomelic micromelic
with bowing
• Wide chevron metaphyses
• Ball and socket
epimetaphyseal junction
• Flared metaphyses
Newborn
![Page 51: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/51.jpg)
Achondroplasia
Radiology – Appendicular Skeleton
• Rhizomelic micromelic
with bowing
• Wide chevron metaphyses
• Ball and socket
epimetaphyseal junction
• Flared metaphyses
![Page 52: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/52.jpg)
Metaphyseal Cupping
• Normal • Distal ulna, proximal fibula
• Rickets • With widening and fraying
• Trauma
• Bone Dysplasia • Achondroplasia • Pseudoachondroplasia • Metatropic dwarfism • Diastrophic dwarfism • Metaphyseal chondrodysplasia • Hypophosphatasia
• Scurvy
![Page 53: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/53.jpg)
Cleidocranial Dysostosis
• Autosomal Dominant
• 1/3 new mutations
• Retarded development of
membranous bones
![Page 54: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/54.jpg)
Cleidocranial Dysostosis
• Brachycephaly
• Wormian bones
• Frontal and Parietal bossing
• Wide sutures and fontanelles with delayed closure
• Broad mandible, small facial bones
• Delayed eruption and supernumary teeth
• Basilar invagination • Bulging of Cx spine and foramen
magnum into skull
• Platybasia • angle between sphenoid roof and
clivus >1500
![Page 55: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/55.jpg)
Wormian Bones
• CCD
• PKD
• Hypophosphatasia
• Osteogenesis Imperfecta
• Downs
• Cretinism
• Acro-osteolysis of Hajdu and Cheney
• Pachydermoperiostosis
• Menkes kinky hair syndrome
![Page 56: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/56.jpg)
Cleidocranial Dysostosis
• Brachycephaly
• Wormian bones
• Frontal and Parietal bossing
• Wide sutures and fontanelles with delayed closure
• Broad mandible, small facial bones
• Delayed eruption and supernumary teeth
• Basilar invagination
• Platybasia
Chamberlains line
Sphenoid angle
![Page 57: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/57.jpg)
Cleidocranial Dysostosis
• Brachycephaly
• Wormian bones
• Frontal and Parietal bossing
• Wide sutures and fontanelles with delayed closure
• Broad mandible, small facial bones
• Delayed eruption and supernumary teeth
• Basilar invagination
• Platybasia
![Page 58: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/58.jpg)
Bone Dysplasia
Terminology
• Brachycephaly • Short wide skull • Premature closure of coronal suture
• Turricephaly / Oxycephaly / Acrocephaly
• Turret shaped head (cone head) • Premature closure of coronal and sphenofrontal sutures • Seen in the Acrocephalosyndactylys (Aperts, Crouzon, Pfeiffer)
• Dolicocephaly / Scaphocephaly
• Long narrow skull • Premature closure of sagittal suture
• Trigonocephaly
• Wedged narrow forehead, hypotelorism • Premature closure of metopic suture
• Plagiocephaly
• Asymmetry of skull
• Triphyllocephaly • Cloverleaf skull (Kleeblattschadel) • Thanatophoric dwarfism
![Page 59: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/59.jpg)
Cleidocranial Dysostosis – Axial skeleton
• Partial or total absence of the clavicle – bilateral
• Lateral > Medial
• Clavicle pseudoarthrosis
• Delayed pubic ossification
• Varus or valgus femoral neck
• Small high scapulae
• Neonatal respiratory
distress from thoracic
deformity
![Page 60: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/60.jpg)
Cleidocranial Dysostosis – Axial Skeleton
• Partial or total absence of the clavicle – bilateral
• Lateral > Medial
• Clavicle pseudoarthrosis
• Delayed pubic ossification
• Varus or valgus femoral neck
• Small high scapulae
• Neonatal respiratory
distress from thoracic
deformity
![Page 61: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/61.jpg)
Cleidocranial Dysostosis – Axial skeleton
• Partial or total absence of the clavicle – bilateral
• Lateral > Medial
• Clavicle pseudoarthrosis
• Delayed pubic ossification
• Varus or valgus femoral neck
• Small high scapulae
• Neonatal respiratory
distress from thoracic
deformity
![Page 62: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/62.jpg)
Wide pubic symphysis
• Trauma
• Cleidocranial dysostosis
• Bladder exstrophy
• Renal osteodystrophy
• Amyloid
• Hyperparathyroidism
![Page 63: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/63.jpg)
Cleidocranial Dysostosis - Appendicular
• Long 2 +5 Metacarpals
• Short 2 + 5 Middle phalanges
• Cone shaped epiphyses
• Acroosteolysis
• Supernumerary ossification centers
![Page 64: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/64.jpg)
Acroosteolysis
• Neuropathic
• Syrinx, Myelomenigocele, Congenital insensitivity to pain, DM, Leprosy, Lesch Nyan syndrome
• Connective Tissue diseases
• Scleroderma, Raynauds
• Trauma
• Cold, Hot, Mechanical
• Hyperparathyroidism
• Psoriasis, Erosive OA, Multicentric reticulohistiocytosis
• Snake or scorpion venom
• Porphyria
• Idiopathic – Hajdu Cheney
• PVC
![Page 65: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/65.jpg)
Osteopetrosis
• Marble bone disease
• Albers-Schonberg
• Defective osteoclasts
• Tarda • AD, Adult, Fxs, anemia, CN palsy
• Congenita • AR, Infantile, Systemic, Hepatosplenomegaly,
Leukemia
![Page 66: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/66.jpg)
Osteopetrosis
• Sclerotic, peri and endosteal
• Erlenmeyer flask.
• Bone in bone, sandwich vertebrae
• Rugger jersey spine
• Calvaria and mandible spared
• Transverse metaphyseal bands
• Fractures
3 5M
![Page 67: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/67.jpg)
Osteopetrosis
• Sclerotic, peri and endosteal
• Erlenmeyer flask
• Bone in bone, sandwich vertebrae
• Rugger jersey spine
• Calvaria and mandible spared
• Transverse metaphyseal bands.
• Fractures
57M
![Page 68: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/68.jpg)
Osteopetrosis
• Sclerotic, peri and endosteal
• Erlenmeyer flask
• Bone in bone, sandwich vertebrae
• Rugger jersey spine
• Calvaria and mandible spared
• Transverse metaphyseal bands
• Fractures
57M L hip pain
![Page 69: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/69.jpg)
Osteopetrosis
• Sclerotic, peri and endosteal
• Erlenmeyer flask
• Bone in bone, sandwich vertebrae
• Rugger jersey spine
• Calvaria and mandible spared
• Transverse metaphyseal bands
• Fractures
![Page 70: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/70.jpg)
Bone in Bone
• Neonate – normal
• Growth arrest / recovery lines
• Paget’s disease
• Osteopetrosis
• Acromegaly
• Heavy metal poisoning
• Prostaglandin E therapy
• AVN / Infarct
• Sequestrum
![Page 71: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/71.jpg)
Erlenmeyer Flask Deformity
• Osteopetrosis
• Thalassemia / Sickle cell disease
• Gauchers / Niemann-Pick
• Metaphyseal dysplasia
![Page 72: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/72.jpg)
Generalised Increase in Bone Density
• Dysplasias • Osteopetrosis
• Pyknodysostosis
• Craniotubular dysplasias (Pyle)
• Craniotubular hyperostoses (Camurati-Engelmann)
• Metabolic • Renal Osteodystrophy
• Poisoning • Lead
• Fluorosis
• Hyper D
• Hyper A
• Idiopathic • Caffey’s disease
• Idiopathic hypercalcaemia of infancy
![Page 73: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/73.jpg)
Dysostosis Multiplex
• General name given to the bony
appearances of the
mucopolysaccharidoses and
mucolipidoses
![Page 74: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/74.jpg)
Dysostosis Multiplex
• Mucopolysaccharidoses
• 1H – Hurler
• 1S – Scheie
• 2 – Hunter
• 3 – Sanfilippo
• 4 – Morquio
• 5 – Maroteaux-Lamy
• 6 – Sly
• Mucolipidoses
• Oligosaccharidoses
![Page 75: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/75.jpg)
Dysostosis Multiplex
• Which one is different?
• Morquios
• Not mentally retarded
• Hypoplastic dens
• Central anterior vertebral body beaks
• Defective ossification of femoral heads
with flattening
![Page 76: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/76.jpg)
Hunter Hurler syndrome 16mF
Dysostosis multiplex
![Page 77: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/77.jpg)
MPS 2 - Hunters Syndrome
General
• Similar to Hurlers syndrome, but:
• X linked recessive
• Later onset 2-6 years, death in 2nd or 3rd decade
![Page 78: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/78.jpg)
MPS1H - Hurlers Syndrome
General
• MPS IH
• AR
• Dwarf, mental retardation,
• Death from cardiac failure in first decade
![Page 79: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/79.jpg)
MPS1H - Hurlers Syndrome
Radiology - Skull
• Scaphocephalic macrocephaly
• J shaped sella
![Page 80: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/80.jpg)
MPS1H - Hurlers Syndrome
Radiology – Axial skeleton
• Oval vertebral bodies with an
anterior beak
• Kyphosis and a thoracolumbar
gibbus
• Posterior scalloping with
widened interpediculate
distance
• Short neck
2 year old male w/ back pain.
![Page 81: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/81.jpg)
MPS4 - Morquios Syndrome
General
• MPS lV
• AR
• Present 2nd year
• Decreassed growth
• Skeletal deformity
![Page 82: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/82.jpg)
MPS4 - Morquios Syndrome
Radiology – Axial skeleton
• Universal vertebrae plana, wide discs
• Hypoplastic dens
• Hypoplastic thoracolumbar vertebrae displaced posteriorly
• Central anterior vertebral body beaks
• Short neck
• Thoracic scoliosis and thoracolumbar kyphosis
4M
![Page 83: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/83.jpg)
MPS4 - Morquios Syndrome
Radiology – Appendicular skeleton
• Defective ossification of femoral
heads with flattening
• Genu valgum
• Short wide tubular bones with
irregular metaphyses
• Proximal tapering of metacarpals
• Irregular carpal and tarsal bones
4M
![Page 84: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/84.jpg)
Causes of bilateral femoral head
collapse/fragmentation children
• AVN Perthes 10% bilateral
• Multiple epiphyseal dysplasia • Myers dysplasia (just femoral heads)
• Gauchers
• Morquios
• Hypothyroidism (Cretinism)
• Chondrodysplasia punctata
![Page 85: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/85.jpg)
Chondrodysplasia Calcificans Punctata
• AKA • Chondrodysplasia punctata
• Conradi- Hunerman
• AD or AR, Presents – Birth, early infancy
• Clinical • Short limbs - asymmetrical
• Flat face
• Joint contractures
• Ichthyosiform skin
• Congenital heart disease
![Page 86: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/86.jpg)
Chondrodysplasia Calcificans Punctata
Autosomal Dominant – Conradi Hunnerman
• Stippled epiphyses
• Ends of long bones
• Carpal and Tarsal
• Later develop into
epiphyseal dysplasia
• Unilateral shortening of
tubular bones
• Coronal cleft in vertebral
bodies
2dF
![Page 87: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/87.jpg)
Chondrodysplasia Calcificans Punctata
Autosomal Dominant - Conradi
• Stippled epiphyses
• Ends of long bones
• Carpal and Tarsal
• Later develop into
epiphyseal dysplasia
• Unilateral shortening of
tubular bones
• Coronal cleft in vertebral
bodies
![Page 88: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/88.jpg)
Chondrodysplasia Calcificans Punctata
Autosomal Dominant - Conradi
• Stippled epiphyses
• Ends of long bones
• Carpal and Tarsal
• Later develop into
epiphyseal dysplasia
• Unilateral shortening of
tubular bones
• Coronal cleft in vertebral
bodies
![Page 89: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/89.jpg)
Chondrodysplasia Calcificans Punctata
Autosomal Dominant - Conradi
• Stippled epiphyses
• Ends of long bones
• Carpal and Tarsal
• Later develop into
epiphyseal dysplasia
• Unilateral shortening of
tubular bones
• Coronal cleft in vertebral
bodies
![Page 90: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/90.jpg)
Chondrodysplasia Calcificans Punctata
Autosomal Dominant - Conradi
• Stippled epiphyses
• Ends of long bones
• Carpal and Tarsal
• Later develop into
epiphyseal dysplasia
• Unilateral shortening of
tubular bones
• Coronal cleft in vertebral
bodies
![Page 91: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/91.jpg)
Chondrodysplasia Calcificans Punctata
Autosomal Dominant - Conradi
![Page 92: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/92.jpg)
Chondrodysplasia Calcificans Punctata
Autosomal Recessive
• Severe symmetric
shortening
• Metaphyseal splaying
• Calcific stippling
• Dorsal and ventral
ossification centers of
vertebrae seperate
![Page 93: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/93.jpg)
Chondrodysplasia Calcificans Punctata
Autosomal Recessive
![Page 94: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/94.jpg)
Causes of Stippled Epiphyses
• Normal • Distal femur
• AVN Perthes 10% bilateral
• Multiple epiphyseal dysplasia • Myers dysplasia (just femoral heads)
• Morquios – causes flattening
• Hypothyroidism (Cretinism) delayed onset
• Chondrodysplasia punctata
• Trisomy 18 and 21
• Warfarin embryopathy – disappears after 1 year
![Page 95: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/95.jpg)
Thanatophoric Dwarfism
• Small thorax
• Severe platyspondyly
• H or inverted U shaped vertebrae
• Telephone handle shaped long bones
• Cloverleaf skull
• Kleeblattschadel
![Page 96: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/96.jpg)
Thanatophoric Dwarfism
• Small thorax
• Severe platyspondyly
• H or inverted U
shaped vertebrae
• Telephone handle
shaped long bones
• Cloverleaf skull
• Kleeblattschadel
![Page 97: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/97.jpg)
Thanatophoric Dwarfism
• Small thorax
• Severe platyspondyly
• H or inverted U
shaped vertebrae
• Telephone handle
shaped long bones
• Cloverleaf skull
• Kleeblattschadel
![Page 98: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/98.jpg)
Thanatophoric Dwarfism
• Small thorax
• Severe platyspondyly
• H or inverted U
shaped vertebrae
• Telephone handle
shaped long bones
• Cloverleaf skull
• Kleeblattschadel
![Page 99: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/99.jpg)
Thanatophoric Dwarfism
• Small thorax
• Severe platyspondyly
• H or inverted U
shaped vertebrae
• Telephone handle
shaped long bones
• Cloverleaf skull
• Kleeblattschadel
![Page 100: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/100.jpg)
Lethal Neonatal dysplasias
• Osteogenesis imperfecta type 2
• Thanatophoric dwarfism
• Chondrodysplasia punctata AR
• Asphyxiating thoracic dystrophy • Jeune’s syndrome
• Campomelic dwarfism
• Achondrogenesis • Homozygous achondroplasia
• Hypophosphatasia
![Page 101: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/101.jpg)
Thanatophoric dysplasia
• Chest – Narrow; short horizontal ribs
– Cupped anterior ends
– Small scapulae with normal
clavicles
• Pelvis – Small, square iliac wings
– Flat acetabulae
• Extremities – Bowing of extremities
– Metaphyseal flaring
• “telephone receiver” Stillbirth
![Page 102: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/102.jpg)
Thanatophoric dysplasia
• Spine
• Flattened/H-shaped
vertebral bodies
• Normal trunk length
Stillbirth
![Page 103: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/103.jpg)
Thanatophoric dysplasia
• Macrocrania
• Flattened nasal bridge
• Frontal bossing
• Protruberant abdomen
• Platyspondyly
Stillbirth
![Page 104: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/104.jpg)
Diastrophic Dysplasia
1. First described in 1960 by
Lamy and Maroteaux
2. Prevalence – rare, but 1 in
30K in Finland
3. Autosomal recessive
4. Clinical Findings
1. Cystic ear swelling
2. Hitchhiker thumb
3. Prominent cheeks
4. Cleft palate
![Page 105: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/105.jpg)
Diastrophic Dwarfism (Dysplasia)
• Clinical
• AR, presents at birth
• Small stature
• Short extremities
• Clubfoot
• Hitchhiker’s thumb
• Joint contractures
![Page 106: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/106.jpg)
Diastrophic Dwarfism (Dysplasia)
• Short clubbed long bones
• Epiphyses may be flat and stippled
• Severe talipes equinovarus
• Short thick metatarsals
• Short 1st metacarpal
• Scoliosis
• Occ posterior scalloping
![Page 107: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/107.jpg)
Diastrophic Dwarfism (Dysplasia)
• Short clubbed long bones
• Epiphyses may be flat and stippled
• Severe talipes equinovarus
• Short thick metatarsals
• Short 1st metacarpal
• Scoliosis
• Occ posterior scalloping
29F Short stature
![Page 108: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/108.jpg)
Diastrophic Dwarfism (Dysplasia)
• Short clubbed long bones
• Epiphyses may be flat and stippled
• Severe talipes equinovarus
• Short thick metatarsals
• Short 1st metacarpal
• Scoliosis
• Occ posterior scalloping
29F Short stature
![Page 109: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/109.jpg)
Diastrophic Dwarfism (Dysplasia)
• Short clubbed long bones
• Epiphyses may be flat and stippled
• Severe talipes equinovarus
• Short thick metatarsals
• Short 1st metacarpal
• Scoliosis
• Occ posterior scalloping
29F Short stature
![Page 110: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/110.jpg)
Diastrophic Dwarfism (Dysplasia)
• Short clubbed long bones
• Epiphyses may be flat and stippled
• Severe talipes equinovarus
• Short thick metatarsals
• Short 1st metacarpal
• Scoliosis
• Occ posterior scalloping
29F Short stature
![Page 111: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/111.jpg)
Diastrophic Dwarfism (Dysplasia)
• Short clubbed long bones
• Epiphyses may be flat and stippled
• Severe talipes equinovarus
• Short thick metatarsals
• Short 1st metacarpal
• Scoliosis
• Occ posterior scalloping
29F Short stature
![Page 112: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/112.jpg)
Diastrophic Dwarfism (Dysplasia)
• Short clubbed long bones
• Epiphyses may be flat and stippled
• Severe talipes equinovarus
• Short thick metatarsals
• Short 1st metacarpal
• Scoliosis
• Occ posterior scalloping
29F Short stature
![Page 113: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/113.jpg)
Diastrophic Dwarfism (Dysplasia)
Diastrophic dwarfism 34F
![Page 114: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/114.jpg)
OGI
• Collagen disorder
• Fibrogenesis imperfecta
• Osseous fragility with fractures
• Rapid healing with much callus
• Blue sclera
• Wormian bones
• Osteopenia of skull
• Broad beaded ribs
![Page 115: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/115.jpg)
Osteogenesis Imperfecta
6mF
![Page 116: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/116.jpg)
Osteogenesis Imperfecta
5F
![Page 117: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/117.jpg)
Osteogenesis Imperfecta
![Page 118: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/118.jpg)
Osteogenesis Imperfecta
32F
![Page 119: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/119.jpg)
Dysplasia Epiphysialis Hemimelica
Trevor's Disease
Cor T1 Cor T2
2M
![Page 120: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/120.jpg)
Dysplasia Epiphysialis Hemimelica
Trevor's Disease
4M
![Page 121: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/121.jpg)
Dysplasia Epiphysialis Hemimelica
Trevor's Disease
2M
![Page 122: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/122.jpg)
Fibrous Dysplasia
General
• Unknown pathogenesis
• Medullary bone replaced by fibrous tissue
• Diagnosed 3-15 years
• Mono or Polyostotic
• Polyostotic tends to be unilateral
• If bilateral then asymmetric
• Femur, Pelvis, Skull, Mandible, Ribs, Humerus
• Commonest expansile rib lesion
![Page 123: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/123.jpg)
Fibrous Dysplasia
Radiology
• Cyst like lesion
• Meta or Diaphysis, Epiphysis after fusion
• +/- Expansion
• +/- Endosteal scalloping
• No periosteal new bone
• Thick sclerotic border “rind sign”
• Ground glass matrix +/- irregular calcifications
![Page 124: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/124.jpg)
Fibrous Dysplasia
Radiology
• Shepherds crook deformity of proximal femur
• Growth disparity
• Accelerated bone maturation
![Page 125: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/125.jpg)
Fibrous Dysplasia
Radiology - Skull
• Mixed lucencies and sclerosis
• Convexity of calvarium and floor of anterior fossa
• Leontiasis ossea
• Sclerosing form affecting face
• Cherubism
• Lytic expansion of mandible and maxilla
![Page 126: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/126.jpg)
Fibrous Dysplasia
Associations
• Sexual precocity + Café au lait
• 30% of polyostotic form
• McCune Albright syndrome
• Acromegaly
• Cushing’s syndrome
• Gynaecomastia
• Parathyroid hyperplasia
![Page 127: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/127.jpg)
Fibrous Dysplasia
67F Lump
![Page 128: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/128.jpg)
Fibrous Dysplasia
67F Lump
![Page 129: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/129.jpg)
Fibrous Dysplasia - Cherub
5F
![Page 130: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/130.jpg)
Fibrous Dysplasia
• Common
• Hamartomatous fibro-osseous metaplasia
• 70% monostotic
• Polyostotic tends to be unilateral
• Usually expansile
• Shepherds crook, ground glass
• Any bone, but spine unusual
![Page 131: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/131.jpg)
24M
Polyostotic fibrous dysplasia
![Page 132: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/132.jpg)
Acroosteolysis
• Tuft
• CVD, Psoriatic, Neuropathic, Thermal, Trauma, HPT,
Porphyria, Epidermolysis bullosa, Phenytoin toxicity,
Subungal exostosis, Snake venom
• Middle third
• HPT, Hajdu Cheney, PVC
• Periarticular
• Psoriatic, Erosive OA, HPT, Thermal injury, Scleroderma,
Multicentric reticulohistiocytosis
![Page 133: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/133.jpg)
Massive osteolysis
![Page 134: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/134.jpg)
Familial Osteolysis
![Page 135: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/135.jpg)
Pseudohypoparathyroidism
• X-linked, renal and skeletal resistance to PTH
• Decreased Ca, normal/increased PTH
• Short, retarded
• Brachydactyly 1,4,5 MC
• Ca basal ganglia, skin, SubQ
![Page 136: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/136.jpg)
Pseudohypoparathyroidism
![Page 137: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/137.jpg)
Pseudohypoparathyroidism
![Page 138: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/138.jpg)
Dermatomyositis
• Damaged chondroitin sulfate
• Atrophy, oedema, necrosis of muscle
• 30-60, F>M
• Calcification extremities and girdles
• Pointing of tufts
• Ass. Malignancy, lung, kidney, ovary, breast
![Page 139: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/139.jpg)
Dermatomyositis
![Page 140: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/140.jpg)
Dermatomyositis
![Page 141: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/141.jpg)
Dermatomyositis
![Page 142: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/142.jpg)
Dermatomyositis
![Page 143: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/143.jpg)
• MOP / Stone man
• Rare, AD, sporadic
• Presents in childhood
• Stiffness, Heterotopic ossification
• Malformed fingers and toes
• Bone morphogenic protein (BMP) signaling pathway problem
Fibrodysplasia ossificans progressiva
![Page 144: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/144.jpg)
*
Fibrodysplasia ossificans progressiva
37F acute torticollis, stiffness and shortness of breath
![Page 145: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/145.jpg)
*
Fibrodysplasia ossificans progressiva
![Page 146: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/146.jpg)
Alkaptonuria / Ochronosis
• Absence of homogentisic acid oxidase
• Pigmentation
• Arthropathy
• Osteoporotic with dense disc
calcification
• Larger joints show DJD
![Page 147: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/147.jpg)
Alkaptonuria Alkaptonuria / Ochronosis
48M joint pains and dark pigmentation on ears
![Page 148: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/148.jpg)
Idiopathic calcinosis
universalis
• Rare, unknown cause
• Infants – subcutaneous
• Children - spreads to muscles
• Calcium phosphate and carbonate
• Serum calcium and phosphorous normal
• DDx - DMS, HPT, Calcium gluconate
![Page 149: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/149.jpg)
Idiopathic Calcinosis Universalis
6mM Calcareous nodules
![Page 150: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/150.jpg)
45M ITC
![Page 151: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/151.jpg)
ITC
![Page 152: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/152.jpg)
24F
Neurofibromatosis 1
![Page 153: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/153.jpg)
Multiple Hereditary Exostosis
21mF
![Page 154: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/154.jpg)
Multiple Hereditary Exostosis
26M
![Page 155: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/155.jpg)
Multiple Hereditary Exostosis
![Page 156: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/156.jpg)
Metaphyseal Dysplasia
Hips got better
![Page 157: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/157.jpg)
Congenital Metaphyseal Dysplasia
![Page 158: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/158.jpg)
Trisomy 21
![Page 159: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/159.jpg)
Trisomy 21
![Page 160: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/160.jpg)
Trisomy 21
![Page 161: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/161.jpg)
Down’s syndrome
General
• Trisomy 21
![Page 162: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/162.jpg)
Down’s syndrome
Radiology - Craniofacial
• Brachycephaly and microcephaly
• Hypoplasia of facial bones and sinuses
• Wide sutures with delayed closure
• Wormian bones
• Hypotelorism
• Underdeveloped teeth 2l l2
![Page 163: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/163.jpg)
Down’s syndrome
Radiology – Axial skeleton
• Increased height and decreased AP diameter of lumbar
vertebrae
• Atlantoaxial subluxation
• Incomplete fusion of lumbar posterior arches
![Page 164: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/164.jpg)
Down’s syndrome
Radiology – Pelvis
• Flared iliac wings
• Small acetabular angles
• Abnormal iliac index
• Iliac angle + acetabular angle
![Page 165: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/165.jpg)
Down’s syndrome
Radiology – Chest
• Eleven pairs of ribs
• Two ossification centers of manubrium
![Page 166: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/166.jpg)
Down’s syndrome
Radiology – Hands
• Short tubular bones
• Clinodactyly (50%)
• Hypoplasia of middle phalanx of little finger (60%)
![Page 167: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/167.jpg)
Turners Syndrome
General
• Females with XO chromosome pattern
• Small stature with retarded bone maturation
• Mental retardation in 10%
• Osteoporosis
![Page 168: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/168.jpg)
Turners Syndrome
![Page 169: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/169.jpg)
Turners Syndrome
Radiology – Axial skeleton
• Pectus excavatum
• Scolosis and kyphosis
• Hypoplasia of cervical spine
![Page 170: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/170.jpg)
Turners Syndrome
Radiology – Appendicular skeleton
• Cubitus valgus 70%
• Short 4th MC +/- MT 50% +/- short 3rd and 5th
• Madelungs deformity
• Enlarged medial tibial plateau +/- small exostosis
• Pes cavus
![Page 171: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/171.jpg)
Neurofibromatosis
• Von Recklinghausen’s disease of bone 1882
• Phakomatosis – neurocutaneous syndrome
• 8 variants - NF I-VIII
• 90% NF -1 9% NF -2
• Autosomal dominant, NF1-Cr. 17, 50% mutations
• Mesodermal dysplasia
Ax T2
![Page 172: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/172.jpg)
Neurofibromatosis
Clinical triad
• Cutaneous lesions
• Skeletal deformity
• Mental retardation
![Page 173: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/173.jpg)
Nerve Tumors
Neurofibromatosis - Criteria
• 6 or more café-au-lait • >5mm prepubertal
• >15mm postpubertal
• >1 neurofibromas or one plexiform
• Axillary or inguinal freckling
• Optic glioma
• >1 Lisch nodules
• Distinctive bone lesion • Sphenoid dysplasia
• Pseudo arthrosis
• 1st degree relative
• 2 or more of the above
![Page 174: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/174.jpg)
Nerve Tumors
Neurofibromatosis - Criteria
• 6 or more café-au-lait • >5mm prepubertal
• >15mm postpubertal
• >1 neurofibromas or one plexiform
• Axillary or inguinal freckling
• Optic glioma
• >1 Lisch nodules
• Distinctive bone lesion • Sphenoid dysplasia
• Pseudo arthrosis
• 1st degree relative
• 2 or more of the above
![Page 175: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/175.jpg)
Nerve Tumors
Neurofibromatosis - Criteria
• 6 or more café-au-lait • >5mm prepubertal
• >15mm postpubertal
• >1 neurofibromas or one plexiform
• Axillary or inguinal freckling
• Optic glioma
• >1 Lisch nodules
• Distinctive bone lesion • Sphenoid dysplasia
• Pseudo arthrosis
• 1st degree relative
• 2 or more of the above
![Page 176: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/176.jpg)
Nerve Tumors
Neurofibromatosis - Criteria
• 6 or more café-au-lait • >5mm prepubertal
• >15mm postpubertal
• >1 neurofibromas or one plexiform
• Axillary or inguinal freckling
• Optic glioma
• >1 Lisch nodules
• Distinctive bone lesion • Sphenoid dysplasia
• Pseudo arthrosis
• 1st degree relative
• 2 or more of the above
![Page 177: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/177.jpg)
Nerve Tumors
Neurofibromatosis - Criteria
• 6 or more café-au-lait • >5mm prepubertal
• >15mm postpubertal
• >1 neurofibromas or one plexiform
• Axillary or inguinal freckling
• Optic glioma
• >1 Lisch nodules
• Distinctive bone lesion • Sphenoid dysplasia
• Pseudo arthrosis
• 1st degree relative
• 2 or more of the above
![Page 178: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/178.jpg)
Nerve Tumors
Neurofibromatosis - Criteria
• 6 or more café-au-lait • >5mm prepubertal
• >15mm postpubertal
• >1 neurofibromas or one plexiform
• Axillary or inguinal freckling
• Optic glioma
• >1 Lisch nodules
• Distinctive bone lesion • Sphenoid dysplasia
• Pseudo arthrosis
• 1st degree relative
• 2 or more of the above
![Page 179: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/179.jpg)
Nerve Tumors
Neurofibromatosis - Criteria
• 6 or more café-au-lait • >5mm prepubertal
• >15mm postpubertal
• >1 neurofibromas or one plexiform
• Axillary or inguinal freckling
• Optic glioma
• >1 Lisch nodules
• Distinctive bone lesion • Sphenoid dysplasia
• Pseudo arthrosis
• 1st degree relative
• 2 or more of the above
![Page 180: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/180.jpg)
Nerve Tumors
Neurofibromatosis - Criteria
• 6 or more café-au-lait • >5mm prepubertal
• >15mm postpubertal
• >1 neurofibromas or one plexiform
• Axillary or inguinal freckling
• Optic glioma
• >1 Lisch nodules
• Distinctive bone lesion • Sphenoid dysplasia
• Pseudo arthrosis
• 1st degree relative
• 2 or more of the above
![Page 181: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/181.jpg)
Nerve Tumors - Neurofibromatosis
Osseous abnormalities of NF1
• Scoliosis (short or long segment)
• Kyphosis (often predominates)
• Facial or orbital dysplasia
• Lambdoid suture defects (left sided)
• Pseudoarthrosis (tibia + congenital)
• Periosteal abnormalities (reaction or cyst)
• Multiple NOF or fibroxanthomas
• Rib deformity (ribbon ribs)
• Posterior vertebral scalloping (dural ectasia)
• Elephantiasis neuromatosa
• Mesodermal dysplasia pseudofracture
![Page 182: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/182.jpg)
Nerve Tumors - Neurofibromatosis
Osseous abnormalities of NF1
• Scoliosis (short or long segment)
• Kyphosis (often predominates)
• Facial or orbital dysplasia
• Lambdoid suture defects (left sided)
• Pseudoarthrosis (tibia + congenital)
• Periosteal abnormalities (reaction or cyst)
• Multiple NOF or fibroxanthomas
• Rib deformity (ribbon ribs)
• Posterior vertebral scalloping (dural ectasia)
• Elephantiasis neuromatosa
• Mesodermal dysplasia pseudofracture
![Page 183: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/183.jpg)
Nerve Tumors - Neurofibromatosis
Osseous abnormalities of NF1
• Scoliosis (short or long segment)
• Kyphosis (often predominates)
• Facial or orbital dysplasia
• Lambdoid suture defects (left sided)
• Pseudoarthrosis (tibia + congenital)
• Periosteal abnormalities (reaction or cyst)
• Multiple NOF or fibroxanthomas
• Rib deformity (ribbon ribs)
• Posterior vertebral scalloping (dural ectasia)
• Elephantiasis neuromatosa
• Mesodermal dysplasia pseudofracture
![Page 184: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/184.jpg)
Nerve Tumors - Neurofibromatosis
Osseous abnormalities of NF1
• Scoliosis (short or long segment)
• Kyphosis (often predominates)
• Facial or orbital dysplasia
• Lambdoid suture defects (left sided)
• Pseudoarthrosis (tibia + congenital)
• Periosteal abnormalities (reaction or cyst)
• Multiple NOF or fibroxanthomas
• Rib deformity (ribbon ribs)
• Posterior vertebral scalloping (dural ectasia)
• Elephantiasis neuromatosa
• Mesodermal dysplasia pseudofracture
![Page 185: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/185.jpg)
Nerve Tumors - Neurofibromatosis
Osseous abnormalities of NF1
• Scoliosis (short or long segment)
• Kyphosis (often predominates)
• Facial or orbital dysplasia
• Lambdoid suture defects (left sided)
• Pseudoarthrosis (tibia + congenital)
• Periosteal abnormalities (reaction or cyst)
• Multiple NOF or fibroxanthomas
• Rib deformity (ribbon ribs)
• Posterior vertebral scalloping (dural ectasia)
• Elephantiasis neuromatosa
• Mesodermal dysplasia pseudofracture
![Page 186: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/186.jpg)
Nerve Tumors - Neurofibromatosis
Osseous abnormalities of NF1
• Scoliosis (short or long segment)
• Kyphosis (often predominates)
• Facial or orbital dysplasia
• Lambdoid suture defects (left sided)
• Pseudoarthrosis (tibia + congenital)
• Periosteal abnormalities (reaction or cyst)
• Multiple NOF or fibroxanthomas
• Rib deformity (ribbon ribs)
• Posterior vertebral scalloping (dural ectasia)
• Elephantiasis neuromatosa
• Mesodermal dysplasia pseudofracture
![Page 187: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/187.jpg)
Nerve Tumors - Neurofibromatosis
Osseous abnormalities of NF1
• Scoliosis (short or long segment)
• Kyphosis (often predominates)
• Facial or orbital dysplasia
• Lambdoid suture defects (left sided)
• Pseudoarthrosis (tibia + congenital)
• Periosteal abnormalities (reaction or cyst)
• Multiple NOF or fibroxanthomas
• Rib deformity (ribbon ribs)
• Posterior vertebral scalloping (dural ectasia)
• Elephantiasis neuromatosa
• Mesodermal dysplasia pseudofracture
![Page 188: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/188.jpg)
Nerve Tumors - Neurofibromatosis
Osseous abnormalities of NF1
• Scoliosis (short or long segment)
• Kyphosis (often predominates)
• Facial or orbital dysplasia
• Lambdoid suture defects (left sided)
• Pseudoarthrosis (tibia + congenital)
• Periosteal abnormalities (reaction or cyst)
• Multiple NOF or fibroxanthomas
• Rib deformity (ribbon ribs)
• Posterior vertebral scalloping (dural ectasia)
• Elephantiasis neuromatosa
• Mesodermal dysplasia pseudofracture
![Page 189: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/189.jpg)
Nerve Tumors - Neurofibromatosis
Osseous abnormalities of NF1
• Scoliosis (short or long segment)
• Kyphosis (often predominates)
• Facial or orbital dysplasia
• Lambdoid suture defects (left sided)
• Pseudoarthrosis (tibia + congenital)
• Periosteal abnormalities (reaction or cyst)
• Multiple NOF or fibroxanthomas
• Rib deformity (ribbon ribs)
• Posterior vertebral scalloping (dural ectasia)
• Elephantiasis neuromatosa
• Mesodermal dysplasia pseudofracture
![Page 190: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/190.jpg)
Nerve Tumors - Neurofibromatosis
Osseous abnormalities of NF1
• Scoliosis (short or long segment)
• Kyphosis (often predominates)
• Facial or orbital dysplasia
• Lambdoid suture defects (left sided)
• Pseudoarthrosis (tibia + congenital)
• Periosteal abnormalities (reaction or cyst)
• Multiple NOF or fibroxanthomas
• Rib deformity (ribbon ribs)
• Posterior vertebral scalloping (dural ectasia)
• Elephantiasis neuromatosa
• Mesodermal dysplasia pseudofracture
![Page 191: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/191.jpg)
Nerve Tumors - Neurofibromatosis
Osseous abnormalities of NF1
• Scoliosis (short or long segment)
• Kyphosis (often predominates)
• Facial or orbital dysplasia
• Lambdoid suture defects (left sided)
• Pseudoarthrosis (tibia + congenital)
• Periosteal abnormalities (reaction or cyst)
• Multiple NOF or fibroxanthomas
• Rib deformity (ribbon ribs)
• Posterior vertebral scalloping (dural ectasia)
• Elephantiasis neuromatosa
• Mesodermal dysplasia pseudofracture
![Page 192: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/192.jpg)
Tuberous Sclerosis
![Page 193: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/193.jpg)
Tuberous Sclerosis
![Page 194: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/194.jpg)
Tuberous Sclerosis
General
• AD, 25-50% fresh mutations
• Mental retardation 60%
• 75% dead by 20 years
![Page 195: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/195.jpg)
Tuberous Sclerosis
Radiology
• Sclerotic islands in 50%
• Calvarium, spine, pelvis
• Hands > Feet
• Cystic defects
• Periosteal new bone
![Page 196: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/196.jpg)
Spondyloepiphyseal Dysplasia
![Page 197: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/197.jpg)
Multiple Epiphyseal Dysplasia
12M
![Page 198: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/198.jpg)
Multiple Epiphyseal Dysplasia
12M
![Page 199: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/199.jpg)
Multiple Epiphyseal Dysplasia
12M
![Page 200: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/200.jpg)
Multiple Epiphyseal Dysplasia
12M
![Page 201: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/201.jpg)
Multiple Epiphyseal Dysplasia
8M
![Page 202: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/202.jpg)
Multiple Epiphyseal Dysplasia
45F
![Page 203: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/203.jpg)
Multiple Epiphyseal Dysplasia
45F
![Page 204: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/204.jpg)
Trichorhinophalangeal Syndrome of Giedion
7F
![Page 205: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/205.jpg)
Trichorhinophalangeal Syndrome of Giedion
7F
![Page 206: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/206.jpg)
Camurati Engleman
![Page 207: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/207.jpg)
Camurati Engleman
![Page 208: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/208.jpg)
Camurati Engelman
![Page 209: No Slide Title - bonepit.com Dysplasia used slides.pdf• Transverse metaphyseal bands • Fractures 3 5M Osteopetrosis • Sclerotic, peri and endosteal • Erlenmeyer flask • Bone](https://reader034.fdocuments.in/reader034/viewer/2022042119/5e981fb690580506d75d462b/html5/thumbnails/209.jpg)
Ribbings disease
59F