Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta.
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.
Zlotogora
J
J
Department of Human Genetics, Hadassah Medical Center, Hebrew University Jerusalem, Israel.
Fuks
A
A
Borochowitz
Z
Z
Tal
Y
Y
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