The branchio-oculo-facial syndrome is a dominant autosomic condition with variable expressivity that affects particularly the facial and neck structures by an inadequate development of the first and second branchial arch. It is characterized by malformations of eyes and ears, with distinct facial characteristics. It is associated with alterations in TFAP2A gene. We present a patient with 9 years of age with phenotype of the branchio-oculo-facial syndrome and the presence of 2 new oral manifestations, the bifid uvula and the tongue with partial central cleft, not yet described in this clinical condition.
|Translated title of the contribution||New oral manifestations of branchio-oculo-facial syndrome. Case report|
|Number of pages||3|
|Journal||Archivos Argentinos de Pediatria|
|Publication status||Published - 1 Jan 2015|
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health