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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
In 1954, Papillon-Leage and Psaume were the first to describe the clinical characteristics of oral-facial-digital syndrome (OFDS). On the basis of their clinical features and the inheritance pattern, 2 variants were initially distinguished, namely OFDS type I (Papillon-Leage and Psaume) and OFDS type II, or Mohr syndrome. At present, 11 types of OFDS have been discovered. OFDS represents a heterogeneous group of disorders characterized by oral manifestations including oral frenula, cleft or lobulated tongue, high arched palate, cleft lip and/or palate, facial anomalies, and digital abnormalities such as syndactyly, polydactyly, brachydactyly, and clinodactyly. Depending on the type of OFDS, abnormalities may be present in other organs, such as the brain and heart. We report a patient with OFDS in whom multiple recurrent and de novo keratocysts were found. Although multiple keratocysts are commonly found in Gorlin-Goltz nevoid basal cell carcinoma syndrome, a relationship between OFDS and multiple keratocysts has not been described.[1]
