title: [Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)].
abstract: We report a family in which Opitz-Frias G syndrome is expressed across 4 generations. The propositus displays hypertelorism, low grade hypospadias, cleft palate and lips and cleft larynx, making the diagnosis of G syndrome very likely. A cousin of his mother discloses similar clefts, vulviform hypospadias, anal imperforation and mental retardation. His clinical appearance fits perfectly the diagnosis of BBB syndrome. A nephew shows ambiguous genitalia and hypertelorism. Authors suggest the lumping of the BBB and the G syndrome.
authors.affiliation: Clinique de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris.
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: P
authors.initials: P
authors.lastname: Narcy
authors.forename: M L
authors.initials: ML
authors.lastname: Briard
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007021:Hypospadias / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome
vernacular_title: Expression variable d'un syndrome dominant autosomique: (syndrome BBB ou syndrome G).