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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