2q37.3 delection syndrome – The first description of oral phenotype, a case report

Carolina Maschietto Pucinelli, Raquel Assed Bezerra Segato, Paulo Nelson-Filho, Léa Assed Bezerra da Silva, Vivian Vicentin Massoni, Clara Marina Pereira Cavalcanti Silva, Alexandra Mussolino de Queiroz

Abstract


Introduction: The 2q37.3 deletion syndrome is a disorder caused by the microdeletion of a subband on chromosome 2, whose epidemiology is approximately 150 cases worldwide, and the prevalence of 1: 10000. Its characteristics are developmental delay, facial dysmorphia, musculoskeletal abnormalities, and increased risk of congenital diseases. The purpose is to present, for the first time in the literature, the oral and dental clinical findings associated with the syndrome. Case report: The main physical characteristics of the syndrome were identified during the physical examination: thin upper lip, prominent columella, and epicanthic folds. In the intraoral examination, dental characteristics were reported, which may be associated with the syndrome: accumulation of dental calculus, hypomineralization and hypoplasia, crossbite, open bite, agenesis, taurodontism, and dentigerous cyst. The dental treatment consisted of the application of behavior management techniques, hygiene and diet instruction, prophylaxis, supragingival scraping, topical fluoride application, and extraction of the lower second molar. This is the first report of oral characteristics of the 2q37.3 deletion syndrome, giving importance to the characteristics observed in this patient. Such findings will be useful in the characterization of the syndrome, which is extremely rare, and may contribute to the clinical diagnosis of these patients, in addition to subsidizing the dental treatment of other individuals. Conclusion: We present oral clinical findings such as hypomineralization and hypoplasia, crossed and an open bite, agenesis, taurodontism, and dentigerous cyst present in the patient with the syndrome and we suggest that the involved gene or its deletion may be responsible for such findings.

Keywords


Rare diseases; Syndrome; Gene deletion; Oral health; Case reports

References


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DOI: https://doi.org/10.22456/2177-0018.107564

e-ISSN 2177-0018 / ISSN 0566-1854. Indexers: descrição da foto descrição da foto descrição da foto