Literature DB >> 7192195

X-linked Dyggve-Melchior-Clausen syndrome.

E Yunis, J Fontalvo, L Quintero.   

Abstract

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.

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Year:  1980        PMID: 7192195     DOI: 10.1111/j.1399-0004.1980.tb00887.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  2 in total

1.  Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.

Authors:  Ola Khalifa; Faiqa Imtiaz; Nadia Al-Sakati; Khalid Al-Manea; Alain Verloes; Mohammed Al-Owain
Journal:  Eur J Pediatr       Date:  2010-09-24       Impact factor: 3.183

2.  Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome.

Authors:  Vladimir Kenis; Alexey Baindurashvili; Evgeniy Melchenko; Franz Grill; Ali Al Kaissi
Journal:  Ger Med Sci       Date:  2011-09-20
  2 in total

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