Home CONTACT Bratislava Medical Journal 2024 Bratislava Medical Journal Vol.125, No.12, p 807–812, 2024

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Published Monthly, in English
Founded: 1919
ISSN 0006-9248
(E)ISSN 1336-0345

Impact factor 1.5

 

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Bratislava Medical Journal Vol.125, No.12, p 807–812, 2024

Title: Overview of typical dental abnormalities in rare genetic syndromes occurring in the Czech Roma population
Author: Tatjana DOSTALOVA, Marketa HAVLOVICOVA, Silvia TIMKOVA, Diana FILIPOVA, Hana ELIASOVA, Marketa BATKOVA, Petra LISKOVA, Milan MACEK
Abstract: BACKGROUND: The Roma population is a genetically isolated population with a shared origin, totaling between 10 to 14 million individuals worldwide, stemming from a limited number of “genetic founders”. Roma individuals exhibit specific hereditary diseases, often stemming from recessive genetic variants due to a higher degree of consanguinity, with recent molecular-genetic investigations shedding light on several conditions prevalent within the Czech Roma population. However, an overview of stomatological issues in diagnosing such diseases proves challenging, leading to frequent underdiagnosis or misdiagnosis.
METHODS: The contribution monitors the clinical description, typical symptoms and treatment options including dental abnormalities in rare genetic diseases in the Roma population which are treated in ERN CRANIO centre at Motol University Hospital in Prague.
RESULTS: Our research provides examples of autosomal recessive diseases, which can be molecularly confirmed, and prevalent within the Roma community. These include congenital cataract syndrome, facial dysmorphism and demyelinating neuropathy, non-syndromic prelingual e.g. deafness with GJB2 gene impairment, and myasthenic syndrome.
CONCLUSION: Our report aimed to provide a systematic review of dental phenotypes which can relate to Czech Roma’s rare genetic disorders therapy including dental treatment. Understanding is important for preventing unterdiagnosis or treatment for the patients affected review of observed (Fig. 6, Ref. 27).
Keywords: Roma, rare and facilitate treatment, dental anomalies, congenital cataracts, pathogenic variants
Year: 2024, Volume: 125, Issue: 12 Page From: 807, Page To: 812
doi:10.4149/BLL_2024_124


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