title: Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta.
abstract: Kohlschütter-Tönz syndrome is a central nervous system (CNS) degenerative disease with convulsions and mental regression in which the affected children present with yellow teeth due to defective enamel. We present a family in which 2 affected children (a boy and a girl) were born to consanguineous parents. This report confirms the autosomal recessive inheritance of the disorder. The combination of a CNS and an enamel defect may represent pleiotropy or a contiguous gene syndrome.
authors.affiliation: Department of Human Genetics, Hadassah Medical Center, Hebrew University Jerusalem, Israel.
authors.forename: J
authors.initials: J
authors.lastname: Zlotogora
authors.forename: A
authors.initials: A
authors.lastname: Fuks
authors.forename: Z
authors.initials: Z
authors.lastname: Borochowitz
authors.forename: Y
authors.initials: Y
authors.lastname: Tal
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000567:Amelogenesis Imperfecta / Q000235:genetics*; D003704:Dementia / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome