Kohlschütter-tönz syndrome-report of an additional case

Wilfredo Alejandro González-Arriagada, Román Carlos-Bregni, Elisa Contreras, Oslei Paes de Almeida, Marcio Ajudarte Lopes*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


Kohlschütter-Tönz Syndrome is a rare disorder clinically characterized by amelogenesis imperfecta, epilepsy and progressive mental deterioration. We present an additional case of this syndrome of a nine year-old boy who was referred by pigmented teeth. The mental deterioration was associated with speech delay, impulsive behavior, attention-deficit/hyperactivity disorder, and learning problems. The physical examination revealed a reduction of lower third, slightly palpebral fissures, low ear and hair implantation, coarse hair and hypertrichosis. The intraoral examination showed alteration in teeth pigmentation diagnosed as amelogenesis imperfecta. Although rare, the present case report illustrates a syndrome that has dental anomalies and systemic alterations. It is important to recognize this syndrome as early as possible and paediatric dentist may contribute to the diagnosis and consequently to better manage the patients.

Original languageEnglish
Pages (from-to)e108-e111
JournalJournal of Clinical and Experimental Dentistry
Issue number2
StatePublished - Apr 2013
Externally publishedYes


  • Amelogenesis imperfecta
  • Kohlschütter-Tönz syndrome
  • Mental deterioration.
  • Seizures


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