A spondyloepiphyseal dysplasia with peripheral dysostosis.
D002348:Carpal Bones / Q000000981:diagnostic imaging; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging