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Thanatophoric Dysplasia
Case Detail
| Anatomy: Musculoskeletal |
 Joseph Junewick, MD FACR |
| Diagnostic Category: Genetic |
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| Created: over 2 years ago |
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| Updated: over 2 years ago |
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| Tags:
PEDS
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| Modality/Study Types:
CR
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Activities:  PDF  ImageJA |
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).