title: Branchiooculofacial syndrome and bilateral ectopic thymus: report of a family.
abstract: Branchiooculofacial syndrome (BOFS) is a rare autosomal-dominant condition characterized by branchial cleft sinus and ophthalmologic and craniofacial abnormalities that can range from mild to severe forms. Ectopic thymus, an uncommon condition with just over 100 cases reported in the literature, is seen in BOFS. We report a family with BOFS affecting the mother and two daughters, showing the dominant inheritance and variable phenotypical expression of BOFS.
authors.affiliation: Department of Internal Medicine, University of Alberta, Edmonton, AB, Canada. jaloh@ualberta.ca
authors.forename: James
authors.initials: J
authors.lastname: Loh
authors.forename: Hamdy
authors.initials: H
authors.lastname: El-Hakim
authors.forename: Consolato Maria
authors.initials: CM
authors.lastname: Sergi
authors.forename: Loretta
authors.initials: L
authors.lastname: Fiorillo
mesh_terms: D000328:Adult; D019280:Branchio-Oto-Renal Syndrome / Q000150:complications*; D002828:Choristoma / Q000150:complications* / Q000473:pathology*; D004817:Epidermis / Q000473:pathology; D005192:Family Health; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012871:Skin Diseases / Q000150:complications* / Q000473:pathology*; D013950:Thymus Gland