Pelvis-Shoulder Dysplasia

Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.

Epidemiology

Approximately 10 patients have been reported so far.

Clinical description

Additional skeletal abnormalities may include hypoplasia of the clavicles, ribs, femora and fibula, together with spina bifida and prominent lumbar lordosis. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Intelligence is described as normal.

Etiology

Pelvis-shoulder dysplasia seems to be a genetically heterogeneous disorder but no causative genes have been identified so far.

Differential diagnosis

Pelvis-shoulder dysplasia is phenotypically similar to pelvis-scapular dysplasia (Cousin syndrome, which also presents with craniocervical abnormalities; see this term), and, according to some authors, the two entities represent different manifestations of the same disease.

Genetic counseling

Autosomal dominant inheritance has been described in some cases.