ASSOCIATION OF BILATERAL RADIOULNAR SYNOSTOSIS WITH OSTEOGENESIS IMPERFECTA TYPE 1 – CASE PRESENTATION

Abstract

Osteogenesis imperfecta (OI) is a group of rare congenital conditions characterized mainly by bone brittleness secondary to mutations in the genes encoding collagen. The medical history together with a clinical examination in detail of the fractures is highly important in directing the diagnosis towards OI. The authors present an OI case diagnosed in an 11-years old patient with a history of multiple fractures, with bone deformations, which associates a rare congenital malformation – bilateral radioulnar synostosis. This case needs multidisciplinary monitoring (pediatric, orthopaedic, genetic, psychologic).

Keywords

• child
• congenital radioulnar synostosis
• osteogenesis imperfecta