title: Further delineation of the branchio-oculo-facial syndrome.
abstract: We review 43 patients (15 new, 28 literature) with the branchio-oculo-facial (BOF) syndrome, which has a distinctive phenotype ranging from mild to severe forms, consisting of eye, ear, oral, and craniofacial anomalies. Virtually ubiquitous and possibly pathognomonic are the cervical/infra-auricular skin defects. Much less common are supra-auricular defects occurring as isolated anomalies or with cervical defects. Regardless of location, these lesions may have aplastic, "hemangiomatous," or otherwise abnormal overlying skin, and draining sinus fistulae. Renal malformations are frequent, but congenital heart and central nervous system defects are rare. Psychomotor performance is usually normal, but development delays, hypotonia, and visual, hearing, and speech problems are common. Autosomal dominant inheritance seems likely. Overlap between the BOF and branchio-otorenal syndromes has been observed, but elucidation of its molecular basis is not yet available. This article also discusses 5 patients with atypical manifestations considered to be possibly affected or probably unaffected, who are sufficiently unusual to be excluded from the final data analysis.
authors.affiliation: Department of Genetics, Franciscan Children's Hospital, Boston, Massachusetts, USA.
authors.forename: A E
authors.initials: AE
authors.lastname: Lin
authors.forename: R J
authors.initials: RJ
authors.lastname: Gorlin
authors.forename: I W
authors.initials: IW
authors.lastname: Lurie
authors.forename: H G
authors.initials: HG
authors.lastname: Brunner
authors.forename: I
authors.initials: I
authors.lastname: van der Burgt
authors.forename: I V
authors.initials: IV
authors.lastname: Naumchik
authors.forename: N V
authors.initials: NV
authors.lastname: Rumyantseva
authors.forename: S
authors.initials: S
authors.lastname: Stengel-Rutkowski
authors.forename: K
authors.initials: K
authors.lastname: Rosenbaum
authors.forename: P
authors.initials: P
authors.lastname: Meinecke
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001934:Branchial Region / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D008875:Middle Aged