[A case of Dyggve-Melchior-Clausen's syndrome (author's transl)].
A six year old girl is presented, who shows a short trunk dwarfism, is mentally retarded, lacks excretion of mucopolysaccharides in urine and has very severe generalized oseous alterations which corresponds to the characteristics of the Dyggve-Melchior-Clausen syndrome. The parents of the patient were cousins, which makes one think of a recessive autosomic inheritance.
D002648:Child; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006820:Hyaluronic Acid; D008607:Intellectual Disability / Q000000981:diagnostic imaging / Q000235:genetics; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D013577:Syndrome
D006820:Hyaluronic Acid
Síndrome de Dyggve-Melchior-Clausen. Presentación de un caso