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X‐linked Dyggve‐Melchior‐Clausen syndrome
Author(s) -
Yunis Emilio,
Fontalvos Justo,
Quintero Luis
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb00887.x
Subject(s) - dwarfism , autosomal recessive inheritance , inheritance (genetic algorithm) , medicine , biology , genetics , gene
Ten affected males studied from four generations of a Colombian family with Dyggve‐Melchior‐Clausen (DMC) syndrome are described. The ages of the affected males varied from 13 to 50 years and they presented with typical clinical and radiological manifestations of the syndrome. The association of normal intelligence and a clear X‐linked recessive inheritance in this family is evidence of heterogeneity in the Dyggve‐Melchior‐Clausen syndrome. In agreement with previous reports for DMC dwarfism, this new form has normal mucopolysaccharide excretion.