Literature DB >> 16101871

Branchio-oculo-facial syndrome with bilateral linear scars of the neck.

Mohammad A El Darouti1, Salonas A Marzouk, Omar A Azzam, Hanan R Nada, Rehab M Sobhi, Iman El Nabarawi.   

Abstract

A case of branchio-oculo-facial syndrome with bilateral linear scars affecting both sides of the neck is described. The disease occured in a male patient aged 20 years and presented with facial asymmetry, pre and postauricular pits, lip pits, microphthalmia, broad malformed nose, colobomas and dystrophic right kidney. In addition, there were bilateral linear hypertrophic scars on both sides of the neck. We believe that the latter lesions may represent the end stage of dermal thymus; a rare condition which has been reported so far in only four cases, two of which had branchio-oculo-facial syndrome.

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Year:  2005        PMID: 16101871     DOI: 10.1111/j.1365-4632.2005.01284.x

Source DB:  PubMed          Journal:  Int J Dermatol        ISSN: 0011-9059            Impact factor:   2.736


  2 in total

1.  A Case of Branchio-oculo-facial Syndrome.

Authors:  Min Young Park; You Chan Kim
Journal:  Ann Dermatol       Date:  2009-08-31       Impact factor: 1.444

Review 2.  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

  2 in total

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