Classification of Limb Anomalies in Oral-Facial-Digital Syndromes

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.