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[A case of Dyggve-Melchior-Clausen's syndrome (author's transl)].

作者信息

Pascual-Castroviejo I, Casas C, Rodríguez Costa T

出版信息

An Esp Pediatr. 1976 Jan-Feb;9(1):91-6.

PMID:817633
Abstract

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.

摘要

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