Open AccessNuevas manifestaciones orales del síndrome branquio-óculo-facial. Caso clínico
Author(s) -
Juan B García Flores,
César E Escamilla Ocañas,
Héctor R Martínez Menchaca,
Ma Guadalupe Treviño Alanís,
Gerardo Rivera-Silva
Publication year - 2015
Publication title -
archivos argentinos de pediatría
Language(s) - Spanish
Resource type - Journals
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2015.e14
Subject(s) - tongue , medicine , branchial arch , expressivity , oral cavity , anatomy , orthodontics , pathology , biology , genetics , embryo
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.