American journal of medical genetics 1993-Jun
Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta.
只有注册用户可以翻译文章
登陆注册
链接已保存到剪贴板
关键词
抽象
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.