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