Literature DB >> 5006211

The Dyggve-Melchior-Clausen syndrome.

R L Kaufman, D L Rimoin, W H McAlister.   

Abstract

An 18-year-old mentally retarded girl with short-trunked dwarfism is described as a case of the Dyggve-Melchior-Clausen syndrome. This disorder is characterized by distinctive skeletal radiographic changes, particularly a lacey appearance of the iliac crest. This syndrome appears to be inherited as an autosomal recessive trait. Reports of several cases with similar radiographic changes but without mental retardation suggest heterogeneity within this syndrome.

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Year:  1971        PMID： 5006211

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


  5 in total

1.  Heterogeneity of Dyggve-Melchior-Clausen dwarfism.

Authors:  J Spranger; B Bierbaum; J Herrmann
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

2.  The Dyggve-Melchior-Clausen syndrome.

Authors:  J Naffah
Journal:  Am J Hum Genet       Date:  1976-11       Impact factor: 11.025

3.  Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.

Authors:  Nadia Ehtesham; Rita M Cantor; Lily M King; Kent Reinker; Berkley R Powell; Alan Shanske; Sheila Unger; David L Rimoin; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2002-08-02       Impact factor: 11.025

4.  Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

Authors:  Daniel H Cohn; Nadia Ehtesham; Deborah Krakow; Sheila Unger; Alan Shanske; Kent Reinker; Berkley R Powell; David L Rimoin
Journal:  Am J Hum Genet       Date:  2002-12-16       Impact factor: 11.025

5.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307
  5 in total

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