title: Townes-Brocks syndrome. Report of a case and review of the literature.
abstract: The authors report a new case of Townes-Brocks syndrome with cardiac defect, ossicular anomalies and dominant transmission. The intrafamilial variability of the phenotype and the difficulty of diagnosis in isolated cases are underlined.
authors.affiliation: Genetics Unit, HCL, Pediatric Hospital of D. Estefania, Lisbon, Portugal.
authors.forename: F G
authors.initials: FG
authors.lastname: Ferraz
authors.forename: L
authors.initials: L
authors.lastname: Nunes
authors.forename: M E
authors.initials: ME
authors.lastname: Ferraz
authors.forename: J P
authors.initials: JP
authors.lastname: Sousa
authors.forename: M
authors.initials: M
authors.lastname: Santos
authors.forename: C
authors.initials: C
authors.lastname: Carvalho
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
mesh_terms: D001006:Anus, Imperforate / Q000235:genetics*; D002648:Child; D004429:Ear Ossicles / Q000002:abnormalities; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities