Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta.
Z. Borochowitz
Bok Bokmål 1993
| Utgitt | Department of Human Genetics, Hadassah Medical Center, Hebrew University Jerusalem, Israel. , 1993
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| Opplysninger | 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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