thanatophoric dysplasia
Pronunciation: than-ah-toe-FOR-ik
Lethal skeletal dysplasia characterized by severe micromelia, narrow thorax, and distinctive radiological features.
Full Definition
The most common lethal skeletal dysplasia, characterized by severe shortening of all long bones (rhizomelic micromelia), a narrow thoracic cage, and macrocephaly with frontal bossing. The condition is caused by mutations in the FGFR3 gene and is classified into two types based on radiological features. Type 1 shows curved ('telephone receiver') femora, while Type 2 displays straight femora with a cloverleaf skull deformity. The narrow thorax leads to pulmonary hypoplasia, making the condition incompatible with life. Prenatal diagnosis is possible through ultrasound detection of characteristic skeletal abnormalities and can be confirmed by genetic testing.
Usage
Usage note: Name derives from Greek 'thanatos' (death) and 'phoros' (bearing).
In Context
- "Ultrasound findings of severe micromelia and narrow thorax raised suspicion for thanatophoric dysplasia." — Anomaly scan report
- "Genetic testing confirmed thanatophoric dysplasia Type 1, allowing for appropriate counseling." — Genetic consultation