Spondylometaphyseal dysplasia (Kozlowski). Report of affected mother and son.
D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography