Townes-Brocks syndrome. Report of a case and review of the literature.
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.
Ferraz
F G
FG
Genetics Unit, HCL, Pediatric Hospital of D. Estefania, Lisbon, Portugal.
Nunes
L
L
Ferraz
M E
ME
Sousa
J P
JP
Santos
M
M
Carvalho
C
C
Maroteaux
P
P
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