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Hemangioblastoma - Spinal Cord
Joseph Junewick, MD FACR
over 6 years ago
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Thanatophoric Dysplasia

Case Detail

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

Stillborn.


Case Images


Diagnosis

Thanatophoric Dysplasia

Findings

CR – Narrow chest with short ribs, flat vertebral bodies, short ilia with horizontal inferior portions, small sciatic notch, short and bowed long bones, and increased craniofacial ratio.

Discussion

Thanatophoric dysplasia is an autosomal dominant disorder caused by a mutation in the FGFR3 (fibroblast growth factor receptor) gene. This dysplasia is characterized by respiratory insufficiency at birth. Few infants survive unassisted; those that survive require ventilatory support, have mental deficiencies and short stature.

Reference

Spranger JW, Brill PW and Poznanski AK. Bone Dysplasia: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed. Oxford University Press (2002).



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