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Abstract:
Two female siblings with the oral-facial-digital type II syndrome, or Mohr syndrome, presented an associated brain malformation: the Dandy-Walker syndrome. Up till now, patients with the Mohr syndrome have been considered to be free of mental deficits and/or brain defects. After reviewing the literature and considering the current criteria for OFD type II syndrome, other possible cases of Mohr syndrome associated with brain abnormality are discussed.