[Dyggve-melchior-clausen's syndrome (author's transl)].
An eight year old boy of first grade consanguinity parents, with important growth and mental retardation, generalized bone alterations and without corneal opacity nor mucopolysacchariduria is presented. All these features account on the syndrome of Dyggve-Melchior and Clausen.
D002508:Cephalometry; D002648:Child; D003241:Consanguinity; D005808:Genes, Recessive; D006801:Humans; D006820:Hyaluronic Acid / Q000032:analysis; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009083:Mucopolysaccharidoses / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
D006820:Hyaluronic Acid
Síndrome de Dyggve-Melchior-Clausen.