Oral-facial-digital syndrome: report on a transitional type between the Mohr and Váradi syndromes in a fetus

Am J Med Genet. 1994 Nov 1;53(2):196-8. doi: 10.1002/ajmg.1320530215.

Abstract

Oral-facial-digital syndromes (OFDS) constitute a heterogeneous group of entities whose clinical manifestations are often overlapping. We report on a 23-week-old aborted fetus who showed a transitional phenotype between OFD II and OFD VI syndromes.

Publication types

  • Case Reports

MeSH terms

  • Face / abnormalities
  • Female
  • Fetus / pathology
  • Foot / diagnostic imaging
  • Hand / diagnostic imaging
  • Hand / pathology
  • Humans
  • Mouth / pathology
  • Orofaciodigital Syndromes / classification
  • Orofaciodigital Syndromes / diagnosis*
  • Orofaciodigital Syndromes / genetics
  • Phenotype
  • Pregnancy
  • Radiography