Posterior helical pits

Eur J Med Genet. 2007 Mar-Apr;50(2):159-61. doi: 10.1016/j.ejmg.2006.11.003. Epub 2006 Nov 30.


Posterior helical pits are an easily overlooked finding. They are uncommon in the general population although they do occur as an isolated autosomal dominant trait. We have observed posterior helical pits as a feature in three syndromes only: Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome and Rubinstein-Taybi syndrome. We suggest that posterior helical pits, when present, are an excellent diagnostic handle.

MeSH terms

  • Beckwith-Wiedemann Syndrome / genetics*
  • Ear, External / abnormalities*
  • Genes, Dominant*
  • Humans
  • Rubinstein-Taybi Syndrome / genetics*