Overview of typical dental abnormalities in rare genetic syndromes occurring in the Czech Roma population
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F24%3A10489004" target="_blank" >RIV/00216208:11130/24:10489004 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/24:10489004 RIV/00064203:_____/24:10489004 RIV/00064165:_____/24:10489004
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=zGZOThdM3Y" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=zGZOThdM3Y</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.4149/BLL_2024_124" target="_blank" >10.4149/BLL_2024_124</a>
Alternative languages
Result language
angličtina
Original language name
Overview of typical dental abnormalities in rare genetic syndromes occurring in the Czech Roma population
Original language description
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). Text in PDF www.elis.sk
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30208 - Dentistry, oral surgery and medicine
Result continuities
Project
<a href="/en/project/NW24-06-00083" target="_blank" >NW24-06-00083: Ultra-rare diseases with an ocular phenotype: optimization of diagnostics and management powered by advanced genomic analyses, artificial intelligence and 3D facial digital phenotyping</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Bratislavské lekárske listy / Bratislava Medical Journal
ISSN
0006-9248
e-ISSN
1336-0345
Volume of the periodical
125
Issue of the periodical within the volume
12
Country of publishing house
SK - SLOVAKIA
Number of pages
6
Pages from-to
807-812
UT code for WoS article
001383566400009
EID of the result in the Scopus database
2-s2.0-85211416186