[Congenital spondyloepiphyseal dysplasia--an autosomal dominant hereditary skeletal dysplasia].
D002648:Child; D004550:Elbow / Q000000981:diagnostic imaging; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000032:analysis; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000097:blood / Q000000981:diagnostic imaging / Q000235:genetics*; D010388:Pelvis / Q000000981:diagnostic imaging; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging
Dysplasia spondyloepiphysaria congenita--eine autosomal dominant erbliche Skelettdysplasie.