[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.