[SMC] Overview of typical dental abnormalities in rare genetic syndromes occurring in the Czech Roma population

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Bratisl Lek Listy. 2024;125(12):807-812. doi: 10.4149/BLL_2024_124.

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).

PMID:39629652 | DOI:10.4149/BLL_2024_124


Source: https://pubmed.ncbi.nlm.nih.gov/3962965 ... t9+e462414