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Townes-Brocks syndrome. Report of a case and review of the literature

1989; Elsevier BV; Volume: 18; Issue: 2 Linguagem: Inglês

10.1016/0165-5876(89)90076-1

1872-8464

F G Ferraz, Luiz Maurício Nogueira Nunes, Maria Eduarda Dorneles Ferraz, J P Sousa, M Santos, Catarina Carvalho, P Maroteaux,

Genetics and Neurodevelopmental Disorders

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.