Cleidocranial dysostosis: Orthopaedic presentation as a shoulder deformity

Abstract

Cleidocranial dysostosis is a rare form of skeletal dysplasia inherited in an autosomal dominant fashion with high penetrance and variable expressivity. It is characterized by a range of skeletal abnormalities affecting mostly bone that undergoes intramembranous ossification. Here we present a case report of CCD in a male with no family history, who complained of reduced ability to raise heavy object with the left upper limb and deformity of the left shoulder. There is an absence of the medial half of the ipsilateral clavicle. He was counselled on the aetiology and nature of the disease and had sessions of physiotherapy with satisfactory outcome.