Literature DB >> 15844782

A whistling face syndrome case with bilateral skin dimples.

M Buyukavci1, H Tan, S Eren, S Balci.   

Abstract

The whistling face syndrome (Freeman-Sheldon Syndrome) is a rare disorder characterized by typical face and limb abnormalities. A wide range of clinical findings have been reported. We report unusual skin dimples in a sporadic case with the whistling face syndrome.

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Year:  2005        PMID: 15844782

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  1 in total

1.  p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.

Authors:  Mohammad Al-Haggar; Soheir Yahia; Kristy Damjanovich; Nermin Ahmad; Iman Hamada; Pinar Bayrak-Toydemir
Journal:  Indian J Pediatr       Date:  2010-10-06       Impact factor: 1.967

  1 in total

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