Kohlschütter‐Tönz syndrome: Epilepsy, dementia, and amelogenesis imperfecta
- 7 June 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 46 (4) , 453-454
- https://doi.org/10.1002/ajmg.1320460422
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.Keywords
This publication has 1 reference indexed in Scilit:
- A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.Journal of Medical Genetics, 1988