Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal

Khosravi et al. (1998) described 3 sibs (2 males, 1 female) with multiple congenital anomalies, poor growth, seizures, and progressive central nervous system degeneration leading to death in infancy. Radiographic changes were similar and included moderate shortness of long bones, platyspondyly, and hypoplastic pelvis. Autopsies showed diffuse encephalomyelopathy and enlargement of the lateral and third ventricles. Lysosomal enzyme activities were normal. Collagen type II analysis on 2 of the sibs indicated normal collagen. Although the radiographic and chondroosseous morphologic findings in these sibs bore certain similarities to Dyggve-Melchior-Clausen syndrome (223800), their clinical course did not fit that condition. Thus, Khosravi et al. (1998) suggested that they represent a new syndrome of bone dysplasia and CNS degeneration inherited as an autosomal recessive. Two of the sibs died at age 5 months; 1 died at the age of almost 4 months after being on respiratory assistance for 7 weeks.