[Radiologic changes in metaphyseal chondrodystrophy of the McKusick type (cartilage-hair hypoplasia)].
A ten year old boy with parents of Rumanian and Turkish origin suffered from metaphyseal chondrodysplasia (McKusick type) with typical radiological changes of the metaphyseal endplates. Microscopic examination of his hair revealed only slight diminution of its thickness, and signs of increased brittleness. Because of Hirschsprung's disease resection of colon was performed. No immunologic changes were found.
D000130:Achondroplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics; D005808:Genes, Recessive; D006201:Hair Diseases / Q000235:genetics*; D006801:Humans; D008297:Male; D011859:Radiography
Radiologische Veränderungen bei metaphysärer Chondrodystrophie Typ Mc Kusick (Knorpel-Haar-Hypoplasie).