Kohlschütter-Tönz Syndrome: A Rare Clinical Entity with Amelogenesis Imperfecta in Two Siblings, Dental Management and Scoping Review

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dc.authoridSezer, Berkant / 0000-0001-9731-6156
dc.contributor.authorAkbeyaz Sivet, Ecem
dc.contributor.authorAkbeyaz, İsmail Hakkı
dc.contributor.authorBerkel, Gülcan
dc.contributor.authorYeşilyurt, Ahmet
dc.contributor.authorSezer, Berkant
dc.contributor.authorMenteş, Ali
dc.date.accessioned2026-02-03T11:59:41Z
dc.date.available2026-02-03T11:59:41Z
dc.date.issued2025
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractKohlschütter-Tönz syndrome (KTS) (OMIM#226750) is a rare autosomal recessive disorder characterized by epileptic encephalopathy, developmental delay, and amelogenesis imperfecta. Early diagnosis and management are crucial, but the complexity of symptoms, particularly dental and neurological impairments, poses significant challenges. The aim of this report is to describe the clinical findings of 2 siblings and their dental management, whose dental examination led to genetic referral and subsequent diagnosis of KTS. Dental examinations revealed enamel defects consistent with amelogenesis imperfecta, including yellow-brown discoloration, soft enamel, and diastemas in both siblings. The younger sibling, a 9-year-old boy, exhibited early-onset seizures, intellectual disability, spasticity, and a history of kidney stones. The older sibling, a 13-year-old boy, presented with more severe neurodevelopmental delay, early-onset seizures, and drug-resistant epilepsy. Genetic testing confirmed homozygous deletions in the ROGDI gene, leading to the diagnosis of KTS in both siblings. The younger sibling received successful restorative treatment under general anesthesia, while the older sibling’s oral care was managed conservatively due to contraindications for general anesthesia. These cases underscore the importance of pediatric dentists in the early identification of rare genetic disorders such as KTS, especially when dental anomalies like amelogenesis imperfecta are present. Timely referral for genetic evaluation can facilitate accurate diagnosis and appropriate care planning. Moreover, sharing clinical experiences and treatment outcomes contributes to a better understanding of this rare syndrome and helps guide future diagnostic and therapeutic strategies.
dc.identifier.doi10.5152/TurkArchPediatr.2025.25085
dc.identifier.issn2757-6256
dc.identifier.issue5
dc.identifier.pmid40960323
dc.identifier.scopus2-s2.0-105015535596
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://doi.org/10.5152/TurkArchPediatr.2025.25085
dc.identifier.urihttps://hdl.handle.net/20.500.12428/34379
dc.identifier.volume60
dc.identifier.wosWOS:001575042000015
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherTurkish Pediatric Association
dc.relation.ispartofTurkish Archives of Pediatrics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20260130
dc.subjectAmelogenesis imperfecta
dc.subjectdevelopmental delay
dc.subjectepilepsy
dc.subjectgenetics
dc.subjectKohlschütterTönz syndrome
dc.titleKohlschütter-Tönz Syndrome: A Rare Clinical Entity with Amelogenesis Imperfecta in Two Siblings, Dental Management and Scoping Review
dc.typeReview Article

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