Dental treatment in a patient with Cornelia de Lange Syndrome: case report
DOI:
https://doi.org/10.33448/rsd-v10i11.19531Keywords:
Craniofacial Abnormalities; Cornelia de Lange syndrome; Pathology.Abstract
Cornelia de Lange syndrome (CLS) is a rare genetic disease with an estimated prevalence of 1 in every 30,000 live births. The main features are distinct craniofacial disorders, abnormalities in the upper and lower limbs and intellectual deficit, varying between patients, being the main clinical diagnosis. The aim of the paper is to report a case of a patient with a dental impairment SCL. A 31-year-old male patient with a genetic diagnosis performed at the age of 3 years presented macrodontia, agenesis of upper lateral incisors, impacted teeth, crowding, protrusion of anterior teeth, caries, mandibular micrognathia, anterior open bite, posterior crossbite, palate ogival, periodontal disease and fissured tongue, therefore, he was submitted to dental treatment, under general anesthesia, due to non-collaboration for outpatient treatment. They were performed as tip extractions, restorations with composite resin in units 11 and 21, scaling of sub and supra gingival calculi, as well as topical application of fluoride. The patient remained in the hospital for a day and made a good recovery. The importance of a multidisciplinary team in monitoring patients with SCL, including dentists, should be highlighted, contributing to an improvement in the quality of life of these clients. Patients must have periodic follow-up with the dentist, including in the case reported, will be monitored every 03 months, due to the fact that it is a rare pathology, difficult to manage clinically, for the control and prevention of important dental changes.
References
Aoi, H., Mizuguchi, T., Ceroni, J. R., Kim, V., Furquim, I., Honjo, R. S., Iwaki, T., Suzuki, T., Sekiguchi, F., Uchiyama, Y., Azuma, Y., Hamanaka, K., Koshimizu, E., Miyatake, S., Mitsuhashi, S., Takata, A., Miyake, N., Takeda, S., Itakura, A., Bertola, D. R., … Matsumoto, N. (2019). Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome. Journal of human genetics, 64(10), 967–978. PMID: 31337854.
Barisic, I., Tokic, V., Loane, M., Bianchi, F., Calzolari, E., Garne, E., Wellesley, D., Dolk, H., & EUROCAT Working Group (2008). Descriptive epidemiology of Cornelia de Lange syndrome in Europe. American journal of medical genetics. Part A, 146A(1), 51–59. PMID: 18074387.
Basile, E., Villa, L., Selicorni, A., & Molteni, M. (2007). The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals. Journal of intellectual disability research : JIDR, 51(Pt 9), 671–681. PMID: 17845236.
Bergeron, M., Chang, K., & Ishman, S. L. (2020). Cornelia de lange manifestations in otolaryngology: A systematic review and meta-analysis. The Laryngoscope, 130(4), E122–E133. PMID: 31301187.
Cornelia de Lange Foundation (2017). Last accessed June 21. www.CdLSusa.org.
Deardorff, M. A., Noon, S. E. & Krantz, I. D. (2020). Cornelia de Lange Syndrome. In: Adam, M. P., Ardinger, H. H., Pagon, R. A., Wallace, S.E., Bean, L. J. H., Mirzaa, G., Amemiya, A.., editors. GeneReviews®️. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301283.
França, D. C. C., Biancardini, A., Pinheiro, E. D. S., Aburad, A. T., & Aguiar, S. M. H. C. Á. D. (2009). Características clínicas, morfológicas e genéticas da Síndrome de Cornélia de Lange. Rev. Odontol. Araçatuba (Online), 55-58.
Grau Carbó, J., López Jiménez, J., Giménez Prats, M. J., & Sànchez Molins, M. (2007). Cornelia de Lange syndrome: a case report. Medicina oral, patologia oral y cirugia bucal, 12(6), E445–E448. PMID: 17909511.
Groves, L., Moss, J., Crawford, H., Nelson, L., Stinton, C., Singla, G., & Oliver, C. (2019). Lifespan trajectory of affect in Cornelia de Lange syndrome: towards a neurobiological hypothesis. Journal of neurodevelopmental disorders, 11(1), 6. PMID: 31174462.
Kinjo, T., Mekaru, K., Nakada, M., Nitta, H., Masamoto, H., & Aoki, Y. (2019). A Case of Cornelia de Lange Syndrome: Difficulty in Prenatal Diagnosis. Case reports in obstetrics and gynecology, 2019, 4530491. PMID: 31214369.
Kline, A. D., Krantz, I. D., Sommer, A., Kliewer, M., Jackson, L. G., FitzPatrick, D. R., Levin, A. V., & Selicorni, A. (2007). Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. American journal of medical genetics. Part A, 143A(12), 1287–1296. PMID: 17508425.
Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A. M., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P. F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., … Hennekam, R. C. (2018). Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nature reviews. Genetics, 19(10), 649–666. PMID: 29995837.
Krawczynska, N., Wierzba, J., & Wasag, B. (2019). Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome. Frontiers in pediatrics, 7, 203. PMID: 31157197.
Maia, M. M. C (2008). O papel dos profissionais da educação/reabilitação na promoção da resiliência na família de uma criança com Síndrome de Cornélia de Lange [monografia na Internet]. Porto: Escola Superior de Educação de Paula Frassinetti.
Michael, L. C. D. R., Eliason, J., Usn, M. D., Jonathan, L. C. D. R., Melzer. M., Usn, M. D., Thomas, C. D. R., Gallagher, Q. & Usn, D. O. (2017). Cornelia de Lange syndrome: What every otolaryngologist should know. Ear, Nose and Throat Journal. 96, E6.
Mikołajewska E. (2013). Interdisciplinary therapy in Cornelia de Lange syndrome - review of the literature. Advances in clinical and experimental medicine : official organ Wroclaw Medical University, 22(4), 571–577. PMID: 23986218.
Montes, M. L., Saldarriaga, W., & Isaza, C. (2006). Descripción de un caso de síndrome de Cornelia de Lange Aporte para un mejor diagnóstico pre-y post-natal. Colombia Médica, 37(4), 323-327.
Mora-Bautista, V. M., Mendoza-Rojas, V., & Contreras-García, G. A. (2017). Síndrome de Cornelia de Lange y deficiencias hormonales pituitáricas múltiples, una asociación inusual. Caso clínico [Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case]. Archivos argentinos de pediatria, 115(3), e170–e174. PMID: 28504504.
Moschini, V., Ambrosini, M. T., & Sofi, G. (2000). Considerazioni anestesiologiche nella sindrome di Cornelia de Lange [Anesthesiologic considerations in Cornelia de Lange syndrome]. Minerva anestesiologica, 66(11), 799–806. PMID: 11213547.
Pereira, A. S., Shitsuka, D. M., Parreira, F. J., & Shitsuka, R. (2018). Metodologia da pesquisa científica.
Taqua R., Blanca, Sabonet M., Lorena, Perez-Moneo P., Patricia, Perez E., Maria Luisa, Sanchís, Amparo, & Reyes Balanzá C., Maria. (2018). Diagnostico prenatal en Sindrome de Cornelia de Lange a propósito de 2 casos. Revista chilena de obstetricia y ginecología, 83(1), 93-98. https://dx.doi.org/10.4067/s0717-75262018000100093
Toker, A. S., Ay, S., Yeler, H., & Sezgin, I. (2009). Dental findings in Cornelia de Lange syndrome. Yonsei medical journal, 50(2), 289–292. PMID: 19430566.
Wierzba, J., Mazurkiewicz-Bełdzińska, M., Jabłońska-Brudło, J., Potaż, P., & Banach, P. (2015). Challenges of caring for a patient with a rare disease--as demonstrated by Cornelia de Lange Syndrome. Developmental period medicine, 19(4), 511–515. PMID: 26982763.
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Copyright (c) 2021 Luana Ferreira Gomes; Beatriz Reis de Oliveira; Naynne Soares de Lima; Victória Rocha de Oliveira; Ellen Maiany Ribeiro Santana; Sara Juliana de Abreu de Vasconcellos; Alina Lúcia de Oliveira Barros; Álvaro Bezerra Macedo
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