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Недосконалий остеогенез з високою кістковою масою

ORPHA:314029· ICD-10 Q78.0· High bone mass osteogenesis imperfecta

Визначення(English summary)

High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Childhood