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Overview of typical dental abnormalities in rare genetic syndromes occurring in the Czech Roma population
Tatjana Dostalova, Marketa Havlovicova, Silvia Timkova, Diana Filipova, Hana Eliasova, Marketa Batkova, Petra Liskova, Milan Macek
Status minimální Jazyk angličtina Země Slovensko
Typ dokumentu časopisecké články, přehledy, systematický přehled
- MeSH
- abnormality zubů * genetika diagnóza etnologie MeSH
- lidé MeSH
- Romové * genetika MeSH
- syndrom MeSH
- vzácné nemoci genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- systematický přehled MeSH
- Geografické názvy
- Česká republika MeSH
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).
Citace poskytuje Crossref.org
Literatura
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