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.
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
García Flores, J. B., Escamilla Ocañas, C. E., Martínez Menchaca, H. R., Treviño Alanís, M. G., & Rivera Silva, G. (2015). Nuevas manifestaciones orales del síndrome branquio-óculo-facial. Caso clínico. Archivos Argentinos de Pediatria, 113(1), e14-e16. https://doi.org/10.5546/aap.2015.e14