The oto-palato-digital syndrome, proposed type II

Am J Med Genet. 1983 Aug;15(4):655-64. doi: 10.1002/ajmg.1320150416.


We present a follow-up of the infant with oral, cranial, facial, and limb abnormalities described by us in 1976. Since then, several other very similar cases have been reported. We propose that this syndrome be called the oto-palato-digital syndrome, type II.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / classification*
  • Child
  • Follow-Up Studies
  • Humans
  • Male
  • Orofaciodigital Syndromes / classification*
  • Orofaciodigital Syndromes / diagnostic imaging
  • Orofaciodigital Syndromes / genetics
  • Radiography
  • Terminology as Topic