García Flores Juan B, Escamilla Ocañas César E, Martínez Menchaca Héctor R, Treviño Alanís Ma Guadalupe, Rivera Silva Gerardo
División de Ciencias de la Salud, Universidad de Monterrey, San Pedro Garza García, NL, MEX.
Arch Argent Pediatr. 2015 Jan;113(1):e14-6. doi: 10.5546/aap.2015.e14.
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.
鳃裂-眼-面综合征是一种具有可变表达性的常染色体显性疾病，主要通过第一和第二鳃弓发育不全影响面部和颈部结构。其特征为眼和耳的畸形以及独特的面部特征。它与TFAP2A基因的改变有关。我们报告了一名9岁的患者，具有鳃裂-眼-面综合征的表型，并出现了2种新的口腔表现，即双裂悬雍垂和部分中央裂舌，在这种临床病症中尚未有过描述。
