Shoulder girdle dysplasia associated with nail patella syndrome. A case report and literature review

Abstract

Hereditary oncycho-osteodysplasia is a well-defined clinical entity consisting of four characteristics: (1) complete or partial absence of finger and thumb nails typically more severe on the radial side of the hand; (2) bony dysplasia about the knee consisting of patellar and lateral femoral condylar hypoplasia; (3) bony dysplasia about the elbow consisting of hypoplasia of the capitellum and radial head; and (4) iliac horns. The hereditary pattern is autosomal dominant with complete penetrance and variable expressivity. Other associated dysplasias have been reported, but there are only six articles reporting shoulder dysplasia and some of these are of questionable validity. This article reports the clinical and roentgenographic findings of a patient with an obvious deformity of the scapula consisting of a small acromion in both the anteroposterior (AP) and lateral planes. The acromion was deformed and slanted upwards at the lateral border. A slightly attenuated glenoid pointed laterally or slightly inferiorly, giving a humeral acromial interval of 2.5 cm.