Синдром Жена
ORPHA:474· ICD-10 Q77.2· Jeune syndrome
Визначення(English summary)
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including 'trident' aspect of the acetabula and metaphyseal changes.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Neonatal