Pelvis-Shoulder Dysplasia

Clinical Features

Kosenow et al. (1970) described 2 girls, each an illegitimate child without sibs, who showed marked hypoplasia of the scapulas and pelvis and hypoplasia of the clavicles. Associated malformations included eye anomalies, such as ectopic pupil, rib anomalies and spina bifida. A similar malformation could be diagnosed in the father on the basis of information from the mother and a radiograph of the pelvis taken at age 11. This condition was termed scapuloiliac dysostosis in the Paris nomenclature of skeletal dysplasias (Maroteaux, 1970).

Elliott et al. (2000) reported 3 patients (2 sibs and an unrelated adult woman) with scapuloiliac dysostosis, or pelvis-shoulder dysplasia. Each had additional abnormalities not previously reported. The sibs had the most severe form of the disorder reported to that time, which supported autosomal recessive inheritance. They suggested that these sibs might have the same disorder as the sibs reported by Cousin et al. (1982); see 260660, which may be a distinct entity.

Amor et al. (2000) presented evidence for autosomal dominant inheritance. They reported the affected son of the man reported by Hauser et al. (1998). The main features in the father were congenitally dislocated hips, marked hypoplasia of the ilia and acetabula, and lumbar lordosis. The scapulae and clavicles were spared. The son was born after a normal pregnancy. The pelvis was noted to be narrow at birth and hip dislocation was suspected clinically. Radiographs at 14 months of age showed global hypoplasia of the ilia which were ovoid in shape with no evidence of formation of the acetabula or sacrosciatic notches. The pubic bones and ischia were normal in size and shape. There was hypoplasia of the body of the scapulae and mild glenoid hypoplasia. The remaining skeleton was normal, including the clavicles, ribs, and humeri.