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Недосконалий остеогенез, тип 1

ORPHA:216796· ICD-10 Q78.0· Osteogenesis imperfecta type 1

Визначення(English summary)

A mild form of osteogenesis imperfecta (OI) characterized by increased bone fragility and low bone mass that clinically manifests with increased susceptibility to bone fractures (including vertebral crush fractures), normal height or short stature (typically between 0 and -2.0 SD scores), mild (Cobb angle <30 degrees) or no scoliosis, blue sclera, and in dentinogenesis imperfecta, and mild long bone bowing bone deformities.

Поширеність
Unknown
Успадкування
Autosomal dominant
Вік початку
Childhood