Literature DB >> 7282775

Brief clinical report: early recognition of the Coffin-Lowry syndrome.

W G Wilson, T E Kelly.   

Abstract

We report a 2-year-old male infant with the Coffin-Lowry syndrome, and describe the change in his clinical and radiographic manifestations during the first 2 years of life. Review of published cases of the Coffin-Lowry syndrome indicates that these manifestations are progressive, and that all of the associated characteristics may not be apparent in early childhood. The importance of continued evaluations of these patients and examination of relatives for mild manifestations is emphasized.

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Year:  1981        PMID: 7282775     DOI: 10.1002/ajmg.1320080212

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

Review 1.  The Coffin-Lowry syndrome.

Authors:  I D Young
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

2.  The Coffin-Lowry syndrome. A study of two new index patients and their families.

Authors:  M Haspeslagh; J P Fryns; L Beusen; F Van Dessel; L Vinken; E Moens; H Van den Berghe
Journal:  Eur J Pediatr       Date:  1984-12       Impact factor: 3.183

3.  Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.

Authors:  Maria Zeniou; Solange Pannetier; Jean-Pierre Fryns; André Hanauer
Journal:  Am J Hum Genet       Date:  2002-04-25       Impact factor: 11.025

Review 4.  Coffin-Lowry syndrome: clinical and molecular features.

Authors:  A Hanauer; I D Young
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318

  4 in total

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