TY - JOUR T1 - A Case of Child with Branchio-Oculo-Facial Syndrome TT - گزارش موردی کودک مبتلا به سندرم نادر برانکیو-اکولو-فاسیال JF - J-Mazand-Univ-Med-Sci JO - J-Mazand-Univ-Med-Sci VL - 26 IS - 137 UR - http://jmums.mazums.ac.ir/article-1-7720-en.html Y1 - 2016 SP - 217 EP - 223 KW - Branchio-Oculo-Facial Syndrome KW - Genetics KW - TFAP2A gene KW - branchial arches KW - pseudo cleft KW - ocular anomalies N2 - Branchio-oculo-facial (BOF) is a rare genetic disorder inherited as an autosomal dominant trait resulting from maldevelopment in the branchial arches. This paper presents a case of sporadic BOF for the first time in Iran. He was 2 years and 9 months old that was born in the first pregnancy (normal birth). His parents were healthy and they were 3rd degree relatives. The patient had normal intelligence. His obvious symptoms were holes in both sides of the neck (he had surgery at 6 months of age), broad nasal bridge, nasal duct obstruction, pseudocleft of the upper lip, submucos cleft palate, microphthalmia, and squint eye (more dropping in right eye). He also had hypernasal speech. This rare syndrome is accompanied with different anomalies, and physical and mental disorders, therefore, a team of specialists is needed in treatment of such patients. M3 ER -