ATAXIA, MENTAL DETERIORATION, EPILEPSY IN A FAMILY WITH DOMINANT ENAMEL HYPOPLASIA - A VARIANT OF KOHLSCHUTTER-TONZ SYNDROME

We describe 3 sibs, their father, and paternal grandfather with amelog enesis imperfecta. In 2 sibs and the father the defect is associated w ith a neurological syndrome which has a wide range of phenotypic varia bility. The proposita has ataxia, EEG abnormalities, moderate dementia , and enamel hypoplasia. This case and the affected relatives are disc ussed in relation to Kohlschutter-Tonz syndrome and neuroectodermal di seases. The syndrome described here, characterized by the association of a genetic enamel defect and neurological impairment, may be of cons iderable interest in advancing genetic and clinical knowledge on ectod ermal tissues and their development. (C) 1994 Wiley-Liss, Inc.