Oral manifestations of a rare variant of Marfan syndrome

Marfan syndrome is a disorder of connective tissue inherited, with a great variability of clinical expression. Primarily affects the skeletal, cardiovascular and ocular systems. Skeletal abnormalities are easier to see signs, but oral manifestations, such as dental caries and periodontal diseases, although they are common in the general population, also have a higher incidence in patients with Marfan syndrome. Therefore, the objective of this study was to show a children case report of a 4 years and 6 months of age diagnosed with a genetic disorder such as Marfan syndrome, which had carious lesions with pulp commitment plus malocclusion. Comprehensive dental treatment and dental procedures at the surgical center is described. The alterations of the stomatognathic system, along with cardiovascular and skeletal are of great importance to the dentist not only to recognize this condition but also for the proper care of these patients. [ABSTRACT FROM AUTHOR] Resumen (español):El síndrome de Marfan es un trastorno del tejido conectivo, hereditaria, con una gran variabilidad de expresión clínica. Afecta fundamentalmente, los sistemas esqueléticos, cardiovasculares y oculares. Las anomalías esqueléticas son los signos más fáciles de ver, pero las manifestaciones orales, como la caries dental y enfermedades periodontales, a pesar de que son comunes en la población general, también tienen una mayor incidencia en pacientes con el síndrome de Marfan. Por lo tanto, el objetivo de este trabajo fue mostrar el reporte de un caso de una niña de 4 años 6 meses de edad con una alteración genética diagnosticada como Síndrome de Marfan, la cual presentaba lesiones cariosas con compromiso pulpar, además de maloclusión. Se describe el tratamiento odontológico integral e intervención odontológica en el Centro quirúrgico. Las alteraciones del sistema estomatognático, junto a las cardiovasculares y esquelética son de gran importancia para el odontopediatra no solo para reconocer esta condición sino también para la atención adecuada de estos pacientes. [ABSTRACT FROM AUTHOR]

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Aspectos gerais e bucais da Síndrome de Marfan

ARCHIVES OF HEALTH INVESTIGATION ◽

10.21270/archi.v9i5.4672 ◽

2020 ◽

Vol 9 (5) ◽

pp. 498-502

Author(s):

Roberta Andréia Lammers ◽

Letícia Stefenon ◽

Paula Wietholter

Keyword(s):

Marfan Syndrome ◽

Pectus Excavatum ◽

Root Resorption ◽

Genetic Alterations ◽

Cone Beam ◽

Oral Manifestations ◽

Pectus Carinatum ◽

Review Of The Literature ◽

Porto Alegre ◽

Maxillary Constriction

Introdução: A Síndrome de Marfan é uma desordem genética que afeta o tecido conectivo. No contexto da Odontologia, poucos profissionais da área conhecem os sintomas da síndrome, bem como os cuidados necessários no atendimento ao paciente. Objetivo: O objetivo deste trabalho foi descrever as características anatômicas gerais e bucais de pessoas com Síndrome de Marfan. Material e método: Foram realizadas pesquisas nas bases de dados EBSCO, Bireme e Pubmed entre os anos de 2017 e 2018, sendo utilizados os seguintes descritores: Síndrome de Marfan AND Odontologia AND Manifestações bucais. Resultados: Foram localizados 13 artigos na base de dados BIREME, 23 no PubMed e cinco no EBSCO, totalizando 41 artigos. Desses, 10 foram selecionados para a realização desta pesquisa. As principais alterações gerais descritas na literatura incluem membros superiores e inferiores longos, pé chato, corpo fino com o segmento inferior maior que o segmento superior, aracnodactilia, peito plano com costelas proeminentes e escoliose, pectus carinatum, pectus excavatum, cifose, hiperextensibilidade, dolicostenomelia, alterações oculares e problemas cardíacos. As principais alterações bucais descritas incluem hipoplasia maxilar, retrognatia mandibular, macrostomia, dentição altamente apinhada com mordidas cruzadas anteriores e posteriores, palato de arco alto e relação molar classe II de Angle em ambos os lados e apresentam maior índice de doenças periodontais do que pacientes normais. Conclusões: Os principais cuidados que devem ser observados durante o tratamento odontológico relacionam-se a anamnese e ao exame clínico. O melhor entendimento dessa patologia poderá orientar decisões terapêuticas para prevenção e correção das desordens mencionadas neste trabalho. Descritores: Síndrome de Marfan; Odontologia; Manifestações Bucais. Referências Muñoz Sandoval J, Saldarriaga-Gil W, Isaza de Lourido C. Síndrome de Marfan, mutaciones nuevas y modificadoras del gen FBN1. 2014;27(2):206-15. García JLG, Cedeño LM, Medina JAG. Síndrome de Marfan. Medisan. 2007;11(4):1-5. Pfeiffer MET. Síndrome de Marfan em crianças e adolescentes: importância, critérios e limites para o exercício físico. Rev DERC. 2011;17(3):82-6. Lebreiro A, Martins E, Cruz C, Almeida J, Maciel MJ, Cardoso JC, et al. Síndrome de Marfan: manifestações clínicas, fisiopatologia e novas perspectivas da terapêutica farmacológica. Rev Port Cardiol. 2010; 29(6):1021-36. Velásquez C. Manejo odontológico integral en centro quirúrgico de un paciente con Sindrome de Marfan. Odontol Pediatr (Lima). 2015;14(1):80-5. Tsang AK, Taverne A, Holcombe T. Marfan syndrome: a review of the literature and case report. Spec Care Dentist. 2013;33(5):248-54. Bilodeau JE. Retreatment of a patient with Marfan syndrome and severe root resorption. Am J Orthod Dentofacial Orthop. 2010;137(1):123-34. Baraldi CEE, Paris MF, Robinson WM. A síndrome de Marfan e seus aspectos odontológicos: relato de caso e revisão da literatura. Rev Fac Odontol Porto Alegre. 2008;49(3):36-9. Sinha A, Kaur S, Raheel SA, Kaur K, Alshehri M, Kujan O. Oral manifestations of a rare variant of Marfan syndrome. Clin Case Rep. 2017;5(9):1429-34. Anuthama K, Prasad H, Ramani P, Premkumar P, Natesan A, Sherlin HJ. Genetic alterations in syndromes with oral manifestations. Dent Res J (Isfahan). 2013;10(6):713-22. Jain E, Pandrey RK. Marfan Syndrome. BMJ Case Rep. 2013;25(16):16-22. Staufenbiel I, Hauschild C, Kahl-Nieke B, Vahle-Hinz E, von Kodolitsch Y, Berner M, et al. Periodontal Conditions in patients with Marfan Syndrome: a multienter case conrol study. BMC Oral Health. 2013;13:59. Mallineni SK, Jayaraman J, Yiu CK, King NM. Concomitant occurrence of hypohyperdontia in a patient with Marfan syndrome: a review of the literature and report of a case. J Investig Clin Dent. 2012;3(4):253-57. Gott VL. Antoine Marfan and his syndrome: one hundred years later. Md Med J. 1998;47(5):247-52. Alves IC, Navarro F. Exercício fisico e sindrome de Marfan. Rev Bras Prescrição e Fisiologia do Exercício. 2008;2(8):149-57. Sivasankari T, Mathew P, Austin RD, Devi S. Marfan Syndrome. J Pharm Bioallied Sci. 2017;9(1):73-7. Sabbatini IF. Avaliação dos components anatômicos do sistema estomatognático de crianças com bruxismo, por meio de imagens obtidas por tomografia computadorizada cone beam [dissertação de Mestrado]. Ribeirão Preto: Universidade do Estado de São Paulo; 2012. Cistulli PA, Richards GN, Palmisano RG, Unger G, Berthon-Jones M, Sullivan CE. Influence of maxillary constriction on nasal resistance and sleep apnea severity in patients with Marfan's syndrome. Chest. 1996;110(5):1184-8.

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Banded aggregates containing fibrillin are present in the cartilage matrix adjacent to chondrocytes in individuals affected with scoliosis

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100124860 ◽

1992 ◽

Vol 50 (1) ◽

pp. 892-893

Author(s):

Douglas R. Keene ◽

Magaret Fairhurst ◽

Catherine C. Ridgway ◽

Lynn Y. Sakai

Keyword(s):

Connective Tissue ◽

Marfan Syndrome ◽

Cross Section ◽

Immunoelectron Microscopy ◽

Cartilage Matrix ◽

Negative Stain ◽

Gene Coding ◽

Rotary Shadowing

Matrix microfibrils are present in the connective tissue matrices of all tissues. Following standard TEM processing, they appear in cross section as cylindrical fibrils 8-10 nm in diameter, often associated with amorphous elastin. They are also seen in the absence of amorphous elastin, for example in the shallow papillary layer of skin, and also in cartilage matrix (Figure 1). Negative stain and rotary shadowing studies suggest that microfibrils are composed of laterally associated globular structures connected by fine filamentous strands (“ beaded strings”), and that they are extendable. Immunoelectron microscopy has demonstrated that fibrillin, a 350 Kd glycoprotein, is distributed along all microfibrils with a relaxed periodicity of about 54 nm The gene coding for fibrillin has recently been identified and is defective in the Marfan syndrome.

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Marfan Syndrome Mobile Web Site

Pediatric News ◽

10.1016/s0031-398x(11)70103-5 ◽

2011 ◽

Vol 45 (5) ◽

pp. 22

Keyword(s):

Marfan Syndrome ◽

Web Site ◽

Mobile Web

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Marfan Syndrome Mobile Site Launch

Skin & Allergy News ◽

10.1016/s0037-6337(11)70392-8 ◽

2011 ◽

Vol 42 (7) ◽

pp. 34

Keyword(s):

Marfan Syndrome

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Marfan Syndrome Update

Internal Medicine News ◽

10.1016/s1097-8690(11)70418-8 ◽

2011 ◽

Vol 44 (8) ◽

pp. 54-55

Author(s):

HOWARD P. LEVY

Keyword(s):

Marfan Syndrome

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Glutathione system participation in thoracic aneurysms from patients with Marfan syndrome

VASA ◽

10.1024/0301-1526/a000609 ◽

2017 ◽

Vol 46 (3) ◽

pp. 177-186 ◽

Cited By ~ 8

Author(s):

Alejandra María Zúñiga-Muñoz ◽

Israel Pérez-Torres ◽

Verónica Guarner-Lans ◽

Elías Núñez-Garrido ◽

Rodrigo Velázquez Espejel ◽

...

Keyword(s):

Aortic Aneurysm ◽

Marfan Syndrome ◽

Aortic Aneurysms ◽

Aortic Dilatation ◽

Glutathione S Transferase ◽

Reduced And Oxidized Glutathione ◽

Total Antioxidant ◽

Elevated Activity ◽

Acute Dissection ◽

Thoracic Aneurysms

Abstract. Background: Aortic dilatation in Marfan syndrome (MFS) is progressive. It is associated with oxidative stress and endothelial dysfunction that contribute to the early acute dissection of the vessel and can result in rupture of the aorta and sudden death. We evaluated the participation of the glutathione (GSH) system, which could be involved in the mechanisms that promote the formation and progression of the aortic aneurysms in MFS patients. Patients and methods: Aortic aneurysm tissue was obtained during chest surgery from eight control subjects and 14 MFS patients. Spectrophotometrical determination of activity of glutathione peroxidase (GPx), glutathione-S-transferase (GST), glutathione reductase (GR), lipid peroxidation (LPO) index, carbonylation, total antioxidant capacity (TAC), and concentration of reduced and oxidized glutathione (GSH and GSSG respectively), was performed in the homogenate from aortic aneurysm tissue. Results: LPO index, carbonylation, TGF-β1, and GR activity were increased in MFS patients (p < 0.04), while TAC, GSH/GSSG ratio, GPx, and GST activity were significantly decreased (p < 0.04). Conclusions: The depletion of GSH, in spite of the elevated activity of GR, not only diminished the activity of GSH-depend GST and GPx, but increased LPO, carbonylation and decreased TAC. These changes could promote the structural and functional alterations in the thoracic aorta of MFS patients.

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