Spondylo-epiphyseal dysplasia with ocular changes: report of two "new" variants in two different families.
Two families with "new" types of spondyloepiphyseal dysplasias are reported. The disease(s) are characterised by spinal changes, capital femoral epiphyseal involvement and minor changes in the first family and shortening of the hands and feet in the second.
D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging; D005128:Eye Diseases / Q000209:etiology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009085:Mucopolysaccharidosis IV / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography