title: Branchio-oculo-facial syndrome presenting with concomitant thyroglossal duct cyst.
abstract: 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.
authors.affiliation: Department of Dermatology, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York 14222, USA.
authors.forename: Arsalan Q
authors.initials: AQ
authors.lastname: Shabbir
authors.forename: Michael R
authors.initials: MR
authors.lastname: Nazareth
authors.forename: Ilene L
authors.initials: IL
authors.lastname: Rothman
mesh_terms: D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D013955:Thyroglossal Cyst / Q000235:genetics / Q000473:pathology*; D014059:Tongue; D050656:Transcription Factor AP-2 / Q000235:genetics
chemical_list: C493673:TFAP2A protein, human; D050656:Transcription Factor AP-2