Osteogenesis Imperfecta

Osteogenesis imperfecta

Svensk definition

Kollagen sjukdom karakteriserad av sköra, porösa ben som lätt kan brytas. Blå ögonvita, lösa leder och defekt dentinbildning kan förekomma. Oftast autosomal dominant nedärvning och koppling till mutationer av kollagen typ I.

Engelsk definition

COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Brittle Bone Disease Fragilitas Ossium Ossiums, Fragilitas Lobstein's Disease Disease, Lobstein's Lobsteins Disease Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta with Blue Sclerae Osteogenesis Imperfecta, Type 1 Lobstein Disease Disease, Lobstein Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta Tardas