Phenotypic variability in Townes-Brocks syndrome

Am J Med Genet. 1984 May;18(1):147-52. doi: 10.1002/ajmg.1320180118.


This is a report on a child with sensorineural deafness, imperforate anus with rectovaginal fistula, hypoplastic thumb, and congenital heart defect. This pattern of congenital anomalies is similar to that described in patients with the Townes-Brocks syndrome, although the present patient has characteristics that have not been reported previously in this syndrome. It is proposed that the clinical spectrum of the Townes-Brocks syndrome must be extended to include congenital heart defect, auricular changes differing from those previously described, and anomalies of other internal organs. The syndrome is an autosomal dominant trait. The present case may represent a de novo mutation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anus, Imperforate / genetics*
  • Deafness / genetics*
  • Female
  • Genetic Variation
  • Heart Septal Defects, Atrial / genetics
  • Humans
  • Infant
  • Phenotype*
  • Rectovaginal Fistula / genetics
  • Syndrome
  • Thumb / abnormalities*