Thanatophoric Dysplasia - TeenagerThanatophoric Dysplasia - Teenager Joseph Junewick, MD FACR...
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Thanatophoric Dysplasia - Teenager Joseph Junewick, MD FACR 07/03/2010 History Teenager with dwarfism. Diagnosis Thanatophoric Dysplasia Discussion Thanatophoric dysplasia is an autosomal dominant dwarfism characterized by very short extremities, narrow thorax, relatively normal trunk length and death in infancy. The underlying genetic defect is related to mutation of the fibroblast growth factor receptor 3. The major radiographic features include: 1) narrow thorax in AP and lateral dimensions secondary to short ribs, 2) Flat vertebral ossifications with central notches in the endplates, 3) abnormal ilia with decreased vertical height, horizontal inferior margins, and small sciatic notches, 4) small pubic and ischial bones, 5) short and broad tubular bones, 6) small facial bones with relatively large calvaria, and 7) craniosynostosis. Respiratory insufficiency usually results in death in the neonatal period; rarely patients can survive with thoracoplasty and/or assisted ventilation. Central nervous system anomalies are common and result in developmental delay and/or seizure disorders. Findings CR-Narrow thorax with horizontal ribs, short broad tubular bones, and abnormal pelvis with short ilia and small ischiopubic rami. The vertebral bodies have decreased AP diameter but relatively normal height. Reference Spranger JW, Brill PW, Poznanski A. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed (2002).
Transcript of Thanatophoric Dysplasia - TeenagerThanatophoric Dysplasia - Teenager Joseph Junewick, MD FACR...
Thanatophoric Dysplasia - TeenagerJoseph Junewick, MD FACR
07/03/2010
HistoryTeenager with dwarfism.
DiagnosisThanatophoric Dysplasia
DiscussionThanatophoric dysplasia is an autosomal dominant dwarfism characterized by very short extremities,narrow thorax, relatively normal trunk length and death in infancy. The underlying genetic defect isrelated to mutation of the fibroblast growth factor receptor 3.The major radiographic features include: 1) narrow thorax in AP and lateral dimensions secondary toshort ribs, 2) Flat vertebral ossifications with central notches in the endplates, 3) abnormal ilia withdecreased vertical height, horizontal inferior margins, and small sciatic notches, 4) small pubic andischial bones, 5) short and broad tubular bones, 6) small facial bones with relatively large calvaria,and 7) craniosynostosis.Respiratory insufficiency usually results in death in the neonatal period; rarely patients can survivewith thoracoplasty and/or assisted ventilation. Central nervous system anomalies are common andresult in developmental delay and/or seizure disorders.
FindingsCR-Narrow thorax with horizontal ribs, short broad tubular bones, and abnormal pelvis with short iliaand small ischiopubic rami. The vertebral bodies have decreased AP diameter but relatively normalheight.
ReferenceSpranger JW, Brill PW, Poznanski A. Bone Dysplasias: An Atlas of Genetic Disorders of SkeletalDevelopment, 2nd Ed (2002).
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