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

Ann Genet. 1989;32(2):120-3.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Anus, Imperforate / genetics*
  • Child
  • Ear Ossicles / abnormalities
  • Ear, External / abnormalities*
  • Female
  • Fingers / abnormalities*
  • Hearing Loss, Sensorineural / genetics*
  • Heart Septal Defects, Ventricular / genetics
  • Humans
  • Pedigree
  • Phenotype
  • Syndrome
  • Thumb / abnormalities