Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. (Catel-Hempel syndrome, Schwarz-Jampel syndrome, Aberfeld syndrome, chondrodystrophic myotonia).
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000367:Age Factors; D001842:Bone and Bones / Q000002:abnormalities; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging*; D004200:Diseases in Twins / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009224:Myotonia Congenita / Q000000981:diagnostic imaging*; D010641:Phenotype; D011859:Radiography