SPONDYLOENCHONDROMATOSIS - SYNDROMIC IDENTITY AND EVOLUTION OF THE PHENOTYPE

We present case details and depict the phenotypic manifestations of a dwarfing skeletal dysplasia in an adolescent boy who was first seen in early childhood. His initial clinical and radiological findings resem bled those of pseudoachondroplasia hut these subsequently metamorphose d to an appearance which was diagnostic of spondyleon-chondromatosis. It is uncertain whether this latter condition is a homogeneous entity or a group of heterogeneous disorders. Pedigree data were consistent w ith autosomal recessive inheritance. (C) 1995 Wiley-Liss, Inc.