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 resembled those of pseudoachondroplasia but these subsequently metamorphosed to an appearance which was diagnostic of spondyloenchondromatosis. It is uncertain whether this latter condition is a homogeneous entity or a group of heterogeneous disorders. Pedigree data were consistent with autosomal recessive inheritance.
Zack
P
P
St George's Hospital Medical School, London, United Kingdom.
Beighton
P
P
D000130:Achondroplasia / Q000175:diagnosis; D000293:Adolescent; D000367:Age Factors; D003241:Consanguinity; D004687:Enchondromatosis / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010641:Phenotype; D011859:Radiography; D013122:Spinal Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D013577:Syndrome