Literature DB >> 8574425

Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis.

H V Toriello1, J V Higgins, R Mann.   

Abstract

We report a male with features of frontonasal dysplasia, but also with ocular and auricular defects. This child most likely has oculoauriculofrontonasal syndrome, an autosomal recessive syndrome first described in 1981. We also review the literature on this syndrome, and discuss differential diagnosis.

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Year:  1995        PMID: 8574425     DOI: 10.1097/00019605-199510000-00010

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


  2 in total

1.  Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.

Authors:  Elif Uz; Yasemin Alanay; Dilek Aktas; Ibrahim Vargel; Safak Gucer; Gokhan Tuncbilek; Ferdinand von Eggeling; Engin Yilmaz; Ozgur Deren; Nicole Posorski; Hilal Ozdag; Thomas Liehr; Sevim Balci; Mehmet Alikasifoglu; Bernd Wollnik; Nurten A Akarsu
Journal:  Am J Hum Genet       Date:  2010-05-06       Impact factor: 11.025

2.  Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1.

Authors:  Tamer Mansour; Sainan Wei; Michael Netzloff; Tarek Mohamed; Brian Schutte; Said A Omar
Journal:  AJP Rep       Date:  2015-05-15
  2 in total

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