선천성 골형성부전증의 1례

Abstract

Osteogenesis imperfecta is a rare hereditary disorders characterized by an unusual fragility of the bones leading to multiple fractures often from a trivial cause.

There are two forms of the disease: osteogenesis imperfect congenita and osteogenesis imferfecta tarda.

Osteogenesis imperfecta congenita develops in utero and is noted at birth, the infant being born with multiple fractures and mortality is very high.

We experienced a case of unusual osteogenesis imperfecta congenita and reports it with brief review of literatures.