Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal

J Med Genet. 1996 May;33(5):416-8. doi: 10.1136/jmg.33.5.416.

Abstract

We report on a patient with a constellation of anomalies including hamartomas of the tongue, polysyndactyly, and atrioventricular canal. A similar association has been previously described by Orstavik et al in two sibs. The clinical spectrum of the oralfacial-digital syndrome (OFDS) type II includes all these features. In particular, congenital heart defect, mainly atrioventricular canal, has been described in a few cases. It has been previously suggested that these latter patients may be affected by a variant of OFDS type II. We propose to distinguish this orocardiodigital variant and point out the association of the syndrome with atrioventricular canal.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Endocardial Cushion Defects* / complications
  • Face / abnormalities
  • Female
  • Fingers / abnormalities
  • Fingers / diagnostic imaging
  • Humans
  • Male
  • Orofaciodigital Syndromes* / diagnostic imaging
  • Orofaciodigital Syndromes* / genetics
  • Orofaciodigital Syndromes* / physiopathology
  • Radiography
  • Toes / abnormalities
  • Toes / diagnostic imaging