Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia

Clinical Features

Waaler and Aarskog (1980) reported a Norwegian family in which the mother had hydrocephalus, rib malformations, dysplasia of thoracic vertebrae and Sprengel anomaly, and each of her 3 daughters had 1 or more of these 4 features. The hydrocephalus (present in the mother and a daughter) was moderate and compensated spontaneously, making shunt operation unnecessary.

Ferlini et al. (1995) reported a family in which a mother and her 3 daughters had delayed psychomotor development and/or psychosis, hydrocephalus with white matter alterations, arachnoid cysts, and skeletal anomalies consisting of brachydactyly and Sprengel anomaly.

Inheritance

Ferlini et al. (1995) raised the possibility X-linked dominant inheritance of this disorder, but an autosomal dominant pattern of inheritance could not be ruled out in this family or in the family reported by Waaler and Aarskog (1980). It may be noteworthy that the mother reported by Ferlini et al. (1995) had had a spontaneous male abortion and a neonatal death of a male offspring, the cause of death being unknown.