Бумерангова дисплазія
ORPHA:1263· ICD-10 Q87.1· Boomerang dysplasia
Визначення(English summary)
Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Not applicable
- Вік початку
- Antenatal, Neonatal