Literature DB >> 11152153

Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome.

J McGaughran.   

Abstract

A 1-year-old male with branchio-oculo-facial syndrome together with preaxial polydatyly and a white forelock at birth is described. This is only the second case where preaxial polydactyly has been described in branchio-oculo-facial syndrome. In both cases a diagnosis of Waardenburg syndrome had been considered.

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Year:  2001        PMID: 11152153     DOI: 10.1097/00019605-200101000-00015

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  1 in total

Review 1.  Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.

Authors:  M S Al-Dosari; M Almazyad; L Al-Ebdi; J Y Mohamed; Saad Al-Dahmash; Hassan Al-Dhibi; Eman Al-Kahtani; Shahira Al-Turkmani; Hisham Alkuraya; B D Hall; F S Alkuraya
Journal:  Mol Vis       Date:  2010-05-08       Impact factor: 2.367

  1 in total

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