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  • Title: Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta.
    Author: Zlotogora J, Fuks A, Borochowitz Z, Tal Y.
    Journal: Am J Med Genet; 1993 Jun 01; 46(4):453-4. PubMed ID: 8357021.
    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.
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