Classification of limb anomalies in oral-facial-digital syndromes.
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.
al-Qattan
M M
MM
Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia.
Hassanain
J M
JM
D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D009154:Mutation; D009958:Orofaciodigital Syndromes / Q000145:classification* / Q000175:diagnosis / Q000235:genetics