title: Opitz BBBG syndrome: new family with late-onset, serious complication.
abstract: The Opitz BBBG syndrome is characterized by hypertelorism and (in male patients) hypospadias, in addition to a number of midline abnormalities: posterior laryngeal cleft, stridor, swallowing dysfunction, cardiac defects, imperforate anus, and urinary tract and CNS anomalies. Inheritance is autosomal dominant (McKusick number *145410) with partial male sex limitation in most pedigrees. We report a Dutch family with Opitz BBBG syndrome in which the proband developed late-onset symptoms of a structural laryngeal abnormality.
authors.affiliation: Department of Pediatrics, University of Limburg, Maastricht, The Netherlands.
authors.forename: J
authors.initials: J
authors.lastname: Schrander
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: J
authors.initials: J
authors.lastname: Berg
authors.forename: J L
authors.initials: JL
authors.lastname: Frias
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D017668:Age of Onset; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D006801:Humans; D007223:Infant; D007830:Larynx / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014132:Trachea / Q000002:abnormalities*