thanatophoric dysplasia
Pronunciation: than-ah-toh-FOR-ik dis-PLAY-zhah
Severe lethal skeletal dysplasia characterized by short limbs and small chest cavity.
Full Definition
Thanatophoric dysplasia is the most common lethal skeletal dysplasia, occurring in approximately 1 in 20,000 births. The name derives from the Greek meaning 'death-bearing' due to the uniformly fatal outcome from respiratory insufficiency caused by severe thoracic hypoplasia. Two subtypes exist: Type I features curved femurs and flat vertebral bodies, while Type II has straight femurs and cloverleaf skull deformity. Both types are caused by mutations in the FGFR3 gene. Characteristic pathological features include extremely short limbs, narrow chest with small lungs, macrocephaly with prominent forehead, and distinctive radiological findings including telephone receiver-shaped femurs in Type I.
Usage
Usage note: Always specify type I or II when known. Uniformly lethal condition; genetic counseling essential for future pregnancies.
In Context
- "Radiological examination revealed the characteristic telephone receiver-shaped femurs diagnostic of thanatophoric dysplasia type I." — Perinatal radiology report
- "Molecular testing confirmed an FGFR3 mutation consistent with thanatophoric dysplasia." — Genetic pathology report