title: Two brothers with Burn-McKeown syndrome.
abstract: We report on two brothers with normal intelligence, bilateral choanal atresia, and a characteristic pattern of facial dysmorphic features consisting of hypertelorism, lower lid coloboma, narrow palpebral fissures, prominent nasal bridge, small mouth with thin lips, and protruding ears. These features show striking similarity to patients with Burn-McKeown syndrome [Burn et al., 1992 Clin. Dysmorphol 1: 137-144] and confirm the existence of this rare condition. These brothers show some additional features that were not previously reported in patients with this syndrome including median cleft palate with oronasal fistula, preauricular tag, hypomimic face, and hypoplastic unilateral kidney, thus indicating that the clinical spectrum of this entity is broader.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstr. 55, 45122 Essen, Germany. dagmar.wieczorek@uni-essen.de
authors.forename: Dagmar
authors.initials: D
authors.lastname: Wieczorek
authors.forename: Ozge Altug
authors.initials: OA
authors.lastname: Teber
authors.forename: Dietmar
authors.initials: D
authors.lastname: Lohmann
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D002648:Child; D002754:Choanal Atresia / Q000235:genetics* / Q000473:pathology*; D041321:Chromosomes, Human, X; D005145:Face / Q000002:abnormalities*; D006801:Humans; D008297:Male; D010641:Phenotype; D035781:Siblings