three month old infant with skeletal deformities

ABSTRACT

Osteogenesis imperfecta [OI] is a heritable disease of bone the hallmark of which is bone fragility. It is an autosomal dominant disorder. Diagnosis is usually clinical, based mainly on typical features. There is no curative treatment for OI. Active physical rehabilitation in the early years allows children to attain a higher functional level than does orthopaedic management alone. Therefore family physicians need to play an active role in guiding their patients to optimal rehabilitation