Two cases of Townes-Brocks syndrome with previously undescribed anomalies

Clin Dysmorphol. 1998 Oct;7(4):295-8. doi: 10.1097/00019605-199810000-00011.


Townes-Brocks syndrome is characterized by the association of anorectal, radial ray and outer ear malformations and deafness. We describe two patients affected with several typical clinical signs of Townes-Brocks syndrome in addition to growth and puberty delays and vertebral anomalies not previously reported.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anus, Imperforate / genetics*
  • Cervical Vertebrae / abnormalities
  • Child
  • Ear, External / abnormalities*
  • Female
  • Growth Disorders / genetics
  • Hearing Disorders / genetics*
  • Humans
  • Syndrome
  • Thumb / abnormalities*