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      Management of unilateral temporomandibular joint ankylosis & orthomorphic correction in a patient with Marfan syndrome: A rare case report

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          Highlights

          • Its a case report of a patient suffering from Unilateral TMJ Ankylosis, Marfan Syndrome & OSA.

          • Surgical intervention is often needed to correct the various deformities affecting the patients to restore the function, improving the patient’s aesthetic appearance and quality of life.

          • This paper highlights the various surgical procedures undertaken to correct the deformities affecting the individual and improving the overall health of the patient.

          • Our patient’s management shows the necessity of a multidisciplinary, multi factorial and multi-faceted approach with early visual identification and diagnosis.

          Abstract

          Introduction

          Marfan syndrome (MFS) is a disorder of the connective tissue that is inherited in an autosomal dominant fashion and is caused by mutations in the gene coding for fibrillin-1 (FBN1). This condition commonly affects the skeletal system, pulmonary system, ocular system and the cardiovascular system. Surgical intervention is often needed to correct the various deformities affecting the patients to restore the function, improving the patient’s aesthetic appearance and quality of life.

          Presentation of case

          It’s a rare case report of a young male patient suffering through unilateral temporomandibular joint ankylosis, obstructive sleep apnea and unaesthetic appearance while being a case of Marfan syndrome.

          Discussion

          This paper highlights the various surgical procedures undertaken to correct the deformities affecting the individual and improving the overall health of the patient.

          Conclusion

          Our patient’s management shows the necessity of a multidisciplinary, multi factorial and multi-faceted approach with early visual identification and diagnosis.

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          Most cited references9

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          Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

          Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2). We reviewed the literature and discussed the challenges and concepts of diagnosing MFS in adults. Ghent-1 proposed more stringent clinical criteria, which led to the confirmation of MFS in only 32%–53% of patients formerly diagnosed with MFS according to the Berlin nosology. Conversely, both the Ghent-1 and Ghent-2 nosologies diagnosed MFS, and both yielded similar frequencies of MFS in persons with a causative FBN1 mutation (90% for Ghent-1 versus 92% for Ghent-2) and in persons not having a causative FBN1 mutation (15% versus 13%). Quality criteria for diagnostic methods include objectivity, reliability, and validity. However, the nosology-based diagnosis of MFS lacks a diagnostic reference standard and, hence, quality criteria such as sensitivity, specificity, or accuracy cannot be assessed. Medical utility of diagnosis implies congruency with the historical criteria of MFS, as well as with information about the etiology, pathogenesis, diagnostic triggers, prognostic triggers, and potential complications of MFS. In addition, social and psychological utilities of diagnostic criteria include acceptance by patients, patient organizations, clinicians and scientists, practicability, costs, and the reduction of anxiety. Since the utility of a diagnosis or exclusion of MFS is context-dependent, prioritization of utilities is a strategic decision in the process of nosology development. Screening tests for MFS should be used to identify persons with MFS. To confirm the diagnosis of MFS, Ghent-1 and Ghent-2 perform similarly, but Ghent-2 is easier to use. To maximize the utility of the diagnostic criteria of MFS, a fair and transparent process of nosology development is essential.
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            Oral manifestations of patients with Marfan syndrome: a case-control study.

            The purpose of this study was to conduct a complete analysis of the oral abnormalities of patients with Marfan syndrome. Twenty three patients with Marfan syndrome and 69 healthy controls were studied. The subjects were screened for cariologic and periodontal alterations, as well as structural defects of enamel and dentin. Data analysis was performed by using the t test, the chi-square test, and regression models. Patients aged 0 to 17 years were significantly at risk for caries. Local hypoplastic enamel spots were more frequent in Marfan syndrome and could be related to caries history of the deciduous dentition. Root deformity, abnormal pulp shape, and pulpal inclusions were a frequent finding in patients with Marfan syndrome. Calculus and gingival indices were significantly higher in the study group as well. This study shows the importance of early diagnosis of oral anomalies and timely treatment of dental problems in Marfan syndrome. A series of therapeutic guidelines to be integrated in treatment strategies is proposed.
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              Obstructive sleep apnea in children with Marfan syndrome: Relationships between three-dimensional palatal morphology and apnea-hypopnea index

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                Author and article information

                Contributors
                Journal
                Int J Surg Case Rep
                Int J Surg Case Rep
                International Journal of Surgery Case Reports
                Elsevier
                2210-2612
                11 September 2020
                2020
                11 September 2020
                : 75
                : 157-161
                Affiliations
                [a ]Professor and Head of Department, Department of Oral and Maxillofacial Surgery, JMF’s ACPM Dental College and Hospital, Dhule, India
                [b ]Post-Graduate Student, Department of Oral and Maxillofacial Surgery, JMF’s ACPM Dental College and Hospital, Dhule, India
                Author notes
                [* ]Corresponding author at: JMF’s ACPM Dental College and Hospital, Dhule, Maharashtra, 424001, India. rishabhjain78632@ 123456gmail.com
                Article
                S2210-2612(20)30705-7
                10.1016/j.ijscr.2020.09.033
                7508685
                32950946
                726342e1-bd31-46cc-826f-e0bbf6487f0c
                © 2020 The Authors

                This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

                History
                : 14 August 2020
                : 5 September 2020
                Categories
                Case Report

                marfan syndrome,orthomorphic,ankylosis,obstructive sleep apnea,temporomandibular joint,case report

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