Shabbir Arsalan Q, Nazareth Michael R, Rothman Ilene L
Department of Dermatology, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York 14222, USA.
Pediatr Dermatol. 2012 May-Jun;29(3):383-4. doi: 10.1111/j.1525-1470.2011.01667.x. Epub 2012 Jan 26.
Branchial cleft anomalies are rare developmental defects of the neck, with an estimated 2% to 3% being bilateral. Although most are isolated findings, some are associated with syndromes. We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated in branchio-oculo-facial (BOF) syndrome. Magnetic resonance imaging (MRI) revealed a thyroglossal duct cyst at the base of the tongue. To our knowledge, this is the first reported case of BOF syndrome presenting concomitantly with a thyroglossal duct cyst.
鳃裂畸形是一种罕见的颈部发育缺陷，估计有2%至3%为双侧性。虽然大多数是孤立发现，但有些与综合征相关。我们报告一名2个月大的男孩，患有双侧鳃裂畸形、低位耳和肾积水，其TFAP2A基因（A256V）突变检测呈阳性，该基因与鳃-眼-面（BOF）综合征有关。磁共振成像（MRI）显示舌根部有一个甲状舌管囊肿。据我们所知，这是首例报告的同时伴有甲状舌管囊肿的BOF综合征病例。
