Article
Craniofacial phenotype in the branchio-oculo-facial syndrome: four case reports.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 May 2012
Galliani Eva, Burglen Lydie, Kadlub Natacha, Just Walter, Sznajer Yves, de Villemeur Thierry Billette, Soupre Véronique, Picard Arnaud, Vazquez Marie-Paule
Abstract excerpt
Branchio-oculo-facial syndrome represents a craniofacial disorder in which affected patients may develop a wide range of distinctive features that include cleft lip and/or palate, cervical aplastic skin defect, malformed pinna, and ocular anomalies. This study reports four new cases confirmed by the identification of mutations in the TFAP2A gene and describes in detail the findings in the craniofacial region. The...
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