1. [New oral manifestations of Branchio-oculo-facial syndrome. Case report].
- Author
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García Flores JB, Escamilla Ocañas CE, Martínez Menchaca HR, Treviño Alanís MG, and Rivera Silva G
- Subjects
- Child, Female, Humans, Phenotype, Abnormalities, Multiple diagnosis, Branchio-Oto-Renal Syndrome diagnosis, Mouth Abnormalities diagnosis
- Abstract
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.
- Published
- 2015
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