Ізольований остеопоїкілоз
ORPHA:166119· ICD-10 Q78.8· Isolated osteopoikilosis
Визначення(English summary)
A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adolescent, Adult, Childhood