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Diagnosis of Mohr syndrome was confirmed by the observation of polydactylia of the feet; syndactylia of toes 1-2 and 3-4 of both feet; bifid tongue tip with broad, short uvula; bilateral hexadactylia of the hands; and a peculiar facies with micrognathia and microcephaly.
3), also born from a consanguineous relation, showed similar skeletal malformations and was also diagnosed as having Mohr syndrome. Both the propositus' brother and nephew had normal liver function, and liver enzymes including ALT were within reference limits.
Oral-facial-digital syndrome type II (Mohr syndrome) is a rare malformation syndrome, mainly involving the musculoskeletal system.