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