A case of basal cell nevus syndrome associated with bilateral cleft lip, alveolus and palate

An 8-year-old boy with a history of bilateral cleft lip, alveolus and palate presented with multiple jaw cysts, and was diagnosed as basal cell nevus syndrome. Detailed examination revealed bifurcation of the ribs, calcification of the falx cerebri, pituitary fossa bridging, retained testis, ocular hypertelorism, and a large head. His parents also have malformation of the ribs. This syndrome is very complex and includes a wide variety of possible abnormalities. In addition, clinical symptoms do not necessarily appear and there is considerable variation in the age of onset.Therefore, this syndrome is very difficult to diagnose. We discussed some criteria for diagnosis.