title: Total laryngotracheal hypoplasia in a case of G syndrome.
abstract: We report a case of congenital hypoplasia of the larynx and trachea in the presence of an essentially normal cartilaginous structure. To our knowledge this abnormality is not recognised in the literature. Previously reported hypoplastic laryngeal anomalies have all shown anatomical defects ranging from clefts to atresia (Smith and Bain 1965, Gatti et al., 1987). Similarly total congenital tracheal stenosis is accompanied by abnormalities of the cartilaginous structure, usually complete tracheal rings. These types of anomaly typically present either at, or soon after, birth and are associated with other congenital abnormalities. In this particular case the laryngotracheal hypoplasia occurred in the context of a herditary condition of multiple congenital abnormalities known as G syndrome (also known as Opitz-Frias syndrome or the Opitz-G syndrome).
authors.affiliation: E.N.T. Department, Selly Oak Hospital, Birmingham.
authors.forename: J G
authors.initials: JG
authors.lastname: Buckley
authors.forename: A E
authors.initials: AE
authors.lastname: Hinton
authors.forename: G
authors.initials: G
authors.lastname: Penter
authors.forename: P A
authors.initials: PA
authors.lastname: Farndon
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications*; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000150:complications*; D007021:Hypospadias / Q000150:complications; D007830:Larynx / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome; D014132:Trachea / Q000002:abnormalities* / Q000000981:diagnostic imaging