Approach to ext skel anomaly survey . Dr Saneej . PRIZE WINNER
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Transcript of Approach to ext skel anomaly survey . Dr Saneej . PRIZE WINNER
Extended skeletal anomaly survey
Dr. K. Saneej DMRD DNB(RD)Radiologist ARMC IVF Fetal Medicine UnitKozhikode
26 yr primi 26 wks GAReferd as“short bones for evaltn”
BPD, HC, OFD, CI, BMD : Normal AC- Asym IUGR
Case 1
Short HL Short FL
Normal HandShort forearm
Normal Kidneys
Narrow thoraxProtuberant Abd
TL : < 3rd %tile of GA
Heart > 2/3rd , Lungs hypoplastic
TC : < 3rd %tile of GATC/AC = 0.55 ( N= >0.8)
• Thoracic & Lung biometry various methods
•Compare with available nomogramsChest restriction Pulm hypoplasiaSevere skel dysplasia + marked thoracic inv + pulm hypoplasia
Counsel parents reg prognosis even if specific type of skel dysp is not known
The fetal musculoskeletal system, pg 439, Ultrasonography in obstetrics & Gynecology , Peter W Callen 5th edition, 2008
Conclusion• Severe Micromelia• Normal mineralization of
bones• Narrow thorax• Hypoplastic lungs• Protuberant abdomen• Asymmetrical IUGR
• No polydactyly/ syndactyly• No skull / face deformities• No micro/ macrognathia• No Hyper/ hypotelorism• Normal foot / hand size• No amputation/ # / bowing /
absence• No cardiac / renal defects
• Lethal skeletal dysplasia• Possibly
– Thanatophoric dysplasia Type-I
Post natal• Severe Micromelia• Protuberant Abdomen• Extended arms• Abducted & externally
rotated thighs• Narrow chest• Normal trunk length• Short thoracic length• Hands & feet are normal
Infantogram• Severe Micromelia• Protuberant abd• Large head with short base of
skull• Narrow chest• Short horizontal ribs• Not extending beyond ant axillary
line• Cupped anterior ends• Bone mineralization is normal• Vertebrae are unremarkable
Short curved “telephone handle” humeriSmall scapulaNormal claviclesTelephone receiver femora
Metaphyseal flaringThorn like projections in metaphyseal area
Autopsy• Hepatomegaly• Normal two Umbilical
arteries
Hypoplastic lungs
Diagnosis Thanatophoric Dysplasia Type- I
What do we do in a case of
-2SD ( <5th %tile) FL?• Measure all long bones – note %tile for GA• Rpt scan after 2-3 wks• If still < 5th %tile = No dysplasia• If < 3rd %tile = Suspect dysplasia• If < 1st %tile =Confirm lethal dysplasia• If FL <5mm below 5th %tile = confirm LD• Look at the parental build• Long bone morphology & pattern of shortening• Other findings encountered in a skeletal dysplasia
Ultrasound practice..
1) Office practice ultrasound.2) Ultrasound centres doing basic level
USG.3) Referral centres with high level of
expertise.4) Fetal medicine centers.
What is the difference ??• Basic level
– “SLIUP of 20 weeks Avg GA, FL is showing 3Wks disparity”
• Expert level– “Micromelic Short limb dwarfism with
narrow thorax, Polydactyly, Cardiac anomaly”
• Fetal medicine centre– “SRP Type III Verma-Naumoff Syn ( Lethal)”
Basic level scanning
• No need to specify what type of skel dysplasia
• Short limb sk dysplasia• Ass with narrow Tx• Not ass with narrow Tx• You can always do a postnatal diagnosis
11 Steps n Suspected Sk dysplasia
1) Measure all long bones2) Compare with other segm & classify
a) Rhizomeliab) Mesomeliac) Acromeliad) Severe micromelia
Bower man RA: anomalies of the fetal skeleton: sonographic findings AJR, 164:973, 1995
Expert level scanning
11 Steps n Suspected Skel dysplasia
3) Qualitative assessment of long bonesa) Demineralisationb) Fracturesc) Bowingd) Metaphyseal flaringe) Absence of bones
Hall CM, Washbrook J: REAMS: Radiological Electronic Atlas of Skeletal Malformation Syndromes. (1.0).2000.London, Oxford Press Electronic Publishing
11 Steps n Suspected Skel dysplasia
4) Chest dimensions- determine risk of pulm hypoplasia
5) Evaluation of hands & feeta) Digits ( poly/ syndactyly)b) Positional deformities
Yoshimura S, Masuzaki H, et al: USG prediction of lethal pulmonary hypoplasia: Comparison of 8 diff parameters Am J OBG 17: 477 , 1996
11 Steps n Suspected Skel dysplasia6) Evaln of cranium
a) Macrocraniab) Frontal bossingc) Cloverleaf skulld) Hyper/hypotelorism
7) Facial clefts
• US of cong fetal anomalies, Paladini & Volpe : 2007. P. 282
11 Steps n Suspected Skel dysplasia
8) Examn of spinea) Platyspondylyb) Demineralisaionc) Hemi vertebraed) Coronal clefts
9) Vertebral disorganisationEvaln of internal organs + fetal ECHO
10) Fetal movement11) AFI
The fetal musculoskeletal system, pg 437, Ultrasonography in obstetrics & Gynecology , Peter W Callen 5th edition, 2008
Case 2, G3P2L1MTP1• Last pregn : MTP for fetal anomaly
skeletal dysplasia with cleft lip
• 34 wks GA as per LMP
BPD, HC, OFD, CI, BMD Normal
HyperechoicEnlarged kidneys
Femur L
<2nd %tile
<2nd %tile
Radius L, Ulna L
Tibial L, Absent fibula
<2nd %tile
TC/AC = 0.6
<2nd %tile
Thoracic Circ
Abd Circ, Ascites<3rd %tile
Median cleft Lip
Spine: few under ossified vert bodies
CTEV
Fingers: Polydactyly
6
7
Brachydactyly
Double thumbExtra little finger
Polyhydramnios
ConclusionSevere micromeliaPulmonary hypoplasia ( Lethal)Fetal Ascitis & PolyhydramniosRenal DysplasiaPost & pre axial polysyndactylyBrachydactylyMedian Cleft lipAbsent Fibula, CTEV, under ossified
vertebral bodies
i. Short rib Polydactyly SyndromeType II (Majewski) or
IV ( Beemer- Langer)
Diagnosis
• Short limbs• Constricted
thorax• Midline cleft lip• Short flat nose• Low set &
malformed ears• Blepharophymosis
Postnatal
• Prominent Abd• Thick umbilical cord• Hypoplastic
epiglottis• Malformed larynx• Cystic renal
Dysplasia
•Post & pre axial polysyndactyly•Double thumb•Extra little finger•7 digits in one hand•B/l simian crease.•Brachydactyly
• Bifid scrotum• No penile stump• u/l CTEV• Polysyndactyly of feet
Infantogram• Micromelia• Extremly short hztly
oriented ribs• Few Under ossified
vertebral bodies• Underossified phalanges• Post & preaxial
polysyndactyly of hands & feet
• No fibula• Widened metaphyses of
femori• Disproportionately short
tibiae• Poly syndactyly of feet
Short rib-polydactyly syndrome II: Majewski type
Diagnosis
Dating Scan
Case III •19 yr primi•Nonconsanguinous marriage
Growth Scan
FL : < 5th %tile of GA ( - 2SD from mean)
Referred for higher Level scanning
Level II scanning Report
No ventriculomegaly
Case III Findings
FL < 1st %tile
HL < 4th %tile of GA
ULNA & RADIUS NORMAL
TIBIA & FIBULA NORMAL
Rhizomelic Short limbs
Hepatomegaly
Spleen : Normal
Ascites (+)
Narrow thorax
Right lobe length : < 3rd %tile
Transthoracic diameter : <1st %tile
Thoracic circ : < 1st %tileTC/AC : < 70 %
Absent LKRK seen
Grade I Echogenic bowel loops
Conclusion• Rhizomelic short limb dwarfism• Narrow thorax• Ascites• Hepatomegaly• Absent/hypoplastic LK• No polydactyly• No CL/ CP• Normal heart• Normal Spine
Diagnosis• Asphyxiating Thoracic dysplasia ( Jeune)
– Diagnosis in low risk pregn ( without family history) is challenging.• Reported only in 3rd TM
– +ve family history helps in 2nd TM diagnosis.– Moderate rhizomelia & Renal anomalies : not
easy to recognize on US• Delivered term. • Clinical diagnosis : ATD• Died due to respiratory distress
Correct diagnostic work upa) Ext examn with photographs;b) Post-mortem whole-body XRc) Skin/ other tissue Bx
– chromosome analysis & preservation of fibroblasts for possible later biochem, enzym,or genetc studies,
d) Complete autopsy by a pathologist exp in perinatal pathology
• Counselling parents for future pregn, formulating recurrence risk
• Designing strategies for prenatal monitoring & diagnosis in future pregn
Thank youDr. Saneej K, DMRD, DNB (RD)
Radiologist