[Clinical heterogeneity of Townes-Brocks syndrome]

Arch Pediatr. 1995 Jun;2(6):551-4. doi: 10.1016/0929-693x(96)81200-0.
[Article in French]


Background: Townes-Brocks syndrome (TBS) is a rare autosomal dominant entity mainly characterized by ano-rectal, ear and extremities abnormalities with variable clinical expression.

Case reports: The first case had ear and extremities, but not anorectal, abnormalities; a Pierre-Robin sequence with esophageal atresia was also observed. The second case had the classical triad of abnormalities also associated with tetralogy of Fallot which has been only once reported in the literature.

Conclusions: Both cases are other examples of the frequent clinical variability observed in this syndrome explaining diagnostic difficulties in the absence of a specific marker.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Anal Canal / abnormalities*
  • Ear, External / abnormalities*
  • Esophageal Atresia / complications
  • Esophageal Atresia / genetics
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital*
  • Male
  • Pierre Robin Syndrome / complications
  • Pierre Robin Syndrome / genetics
  • Rectum / abnormalities*
  • Syndrome
  • Tetralogy of Fallot / complications
  • Tetralogy of Fallot / genetics