[Townes-brocks syndrome: report of a first case]

ABSTRACT

Townes-Brocks syndrome [TBS] is characterized by imperforated anus [82%], dysplastic ears [88%] [over-folded superior helices and preauricular tags] and frequently associated with sensorineural and/or conductive hearing impairment [65%], and thumb malformations [89%] [triphalangeal thumbs, duplication of the thumb, preaxial polydactyly and rarely hypoplasia of the thumb]. Renal impairment [27%], including end-stage renal disease [ESRD] [42%], may occur with or without structural abnormalities [mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoutereral reflux]. Congenital heart disease occurs in 25%, genitourinary malformations [36%]. Mental retardation occurs in approximately 10% of cases. It is autosomal dominant disease with variability in the severity of expression. We are reporting a 8-year-old girl with dysplastic ears, deafness, dysplastic thumbs, small kidneys, history of repaired imperforated anus, and rectovaginal fistula. She is also diagnosed with congenital adrenal hyperplasia. We believe our patient is the first case of Townes-Brocks syndrome with congenital adrenal hyperplasia