Townes-Brocks syndrome

Eur J Pediatr. 1990 Dec;150(2):100-3. doi: 10.1007/BF02072048.


A 2-week-old male is presented with the clinical findings of the autosomal dominant Townes-Brocks syndrome in an otherwise unaffected family. The patient showed the full spectrum of anomalies including imperforate anus, perineal fistula, triphalangeal thumb, preaxial polydactyly, pre-auricular tags, and microtia. As there is considerable overlap with the VACTERL association, careful examination of the parents is necessary with regard to the genetic counselling risk.

Publication types

  • Case Reports

MeSH terms

  • Anus, Imperforate*
  • Ear, External / abnormalities*
  • Face / abnormalities*
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital*
  • Male
  • Syndrome