Ателостеогенез, тип I
ORPHA:1190· ICD-10 Q78.8· Atelosteogenesis type I
Визначення(English summary)
A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Antenatal, Neonatal