Classification of limb anomalies in oral-facial-digital syndromes

J Hand Surg Br. 1997 Apr;22(2):250-2. doi: 10.1016/s0266-7681(97)80074-5.

Abstract

A classification of limb anomalies in oral-facial-digital (OFD) syndromes is offered to help differentiate between the various types of OFD syndromes. A clinical case is presented with clinical features consistent with both OFD syndrome type I (Papillon Leage-Psaume syndrome) and type VI (Váradi syndrome). The final diagnosis as a new mutation of type I syndrome was established after reviewing the radiological findings in the hands.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital*
  • Mutation
  • Orofaciodigital Syndromes / classification*
  • Orofaciodigital Syndromes / diagnosis
  • Orofaciodigital Syndromes / genetics