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De Souza CM, Souza J, Furtado CM, et al. Kohlschütter-Tönz syndrome in siblings without ROGDI mutation. Oral Health Dent Manag. 2014;13(3):728-30
De Souza, C. M., Souza, J., Furtado, C. M., Cleto, J. L., Antoniuk, S. A., & Raskin, S. (2014). Kohlschütter-Tönz syndrome in siblings without ROGDI mutation. Oral health and dental management, 13(3), 728-30.
De Souza, C M, et al. "Kohlschütter-Tönz syndrome in siblings without ROGDI mutation." Oral health and dental management vol. 13,3 (2014): 728-30.
De Souza CM, Souza J, Furtado CM, Cleto JL, Antoniuk SA, Raskin S. Kohlschütter-Tönz syndrome in siblings without ROGDI mutation. Oral Health Dent Manag. 2014 Sep;13(3):728-30. PMID: 25284547.
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Oral Health Dent Manag. 2014 Sep;13(3):728-30.

Kohlschütter-Tönz syndrome in siblings without ROGDI mutation.

Oral health and dental management

C M De Souza, J Souza, C M G Furtado, J L T Cleto, S A Antoniuk, S Raskin

Affiliations

  1. Rua Saldanha Marinho, 1782, Curitiba Parana 80730-180 Brazil; Tel: +55-41-33066838, e-mail: [email protected].

PMID: 25284547

Abstract

BACKGROUND: Kohlschütter-Tönz syndrome is a rare neurodegenerative disorder presenting with intractable seizures, developmental regression, and characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta. Recently, mutations in ROGDI were identified in part of Kohlschütter-Tönz syndrome cases, but the siblings reported here do not have a mutation in the ROGDI gene, showing that there is genetic heterogeneity in Kohlschütter-Tönz syndrome.

AIM: Report two siblings that have Kohlschütter-Tönz syndrome.

CONCLUSION: Early onset of seizures and lack of the ability to walk without support may be signs of non-ROGDI mutations in Kohlschütter-Tönz syndrome patients.

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