Epileptic enzephalopathy and enamel defects (Kohlschütter-Tönz syndrome). Three case reports and review of the literature;Epileptische enzephalopathie und zahnschmelzdefekt (Kohlschütter- Tönz-Syndrom). Drei fallberichte und literaturübersicht

Medizinische Genetik

Volumn 19, Issue 4, 2007, Pages 422-426

  Schossig, A ^a   Wolf, N ^a   Koch, M J ^a   Bast, T ^a   Hoffmann, G F ^a   Zschocke, J ^a   Kohlschutter A ^b  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Enamel defect; Epilepsy; Genetic heterogeneity; Kohlsch tter T nz syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DISEASE SEVERITY; ENAMEL; EPILEPSY; GENETIC DISORDER; GENETIC HETEROGENEITY; HUMAN; KOHLSCHUTTER TONZ SYNDROME; SEX DIFFERENCE; TOOTH DISEASE;

EID: 42049085969     PISSN: 09365931     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11825-007-0053-z     Document Type: Article

References (11)

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3. Donnai D, Tomlin PI, Winter RM (2005) Kohlschutter syndrome in siblings. Clin Dysmorphol 14: 123-126
4. Guazzi G, Palmeri S, Malandrini A et al. (1994) Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschutter-Tonz syndrome? Am J Med Genet 50: 79-83
5. Haberlandt E, Svejda C, Felber S et al. (2006) Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschutter-Tonz syndrome. Am J Med Genet A140: 281-283
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8. Petermoller M, Kunze J, Gross-Selbeck G (1993) Kohlschutter syndrome: syndrome of epilepsy - dementia - amelogenesis imperfecta. Neuropediatrics 24: 337-338
9. Wright JT (2006) The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am J Med Genet A 140: 2547-2555
10. Wygold T, Kurlemann G, Schuierer G (1996) [Kohlschutter syndrome-an example of a rare progressive neuroectodermal disease. Case report and review of the literature]. Klin Padiatr 208: 271-275
11. Zlotogora J, Fuks A, Borochowitz Z, Tal Y (1993) Kohlschutter-Tonz syndrome: epilepsy, dementia, and amelogenesis imperfecta. Am J Med Genet 46: 453-454