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Classical Lissencephaly
Joseph Junewick, MD FACR
over 5 years ago
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Thanatophoric Dysplasia - Teenager

Case Detail

Anatomy: Musculoskeletal
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Developmental or Congenital
Created: over 7 years ago
Updated: over 7 years ago
Tags: PEDS
Modality/Study Types: CR
Activities:
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History

Teenager with dwarfism.


Case Images


Diagnosis

Thanatophoric Dysplasia

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.

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.

Reference

Spranger JW, Brill PW, Poznanski A. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed (2002).



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