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Помірно виражений остеопетроз

ORPHA:210110· ICD-10 Q78.2· Intermediate osteopetrosis

Визначення(English summary)

A rare, genetic primary bone dysplasia with increased bone density characterized by susceptibility to fractures after minor trauma, anemia, and characteristic skeletal radiographic changes, such as sandwich vertebra, bone-within-bone appearance, Erlenmeyer-shaped femoral metaphysis, and mild osteosclerosis of the skull base. Dental anomalies and visual impairment secondary to optic nerve compression have been rarely described.

Поширеність
Unknown
Успадкування
Autosomal recessive
Вік початку
Childhood