Orthodontic Perspective on Marfan Syndrome: A Unique Case Report
Marfan syndrome is considered a relatively rare genetic disorder that affects the connective tissues in the body. It is caused by a specific mutation in the Fibrillin 1 (FBN1) gene, which is a critical component of microfibrils. The elastic fibres in various connective tissues, composed of microfi...
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Private Limited
2023-11-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://www.jcdr.net/articles/PDF/18668/65591_CE[Ra1]_F(SS)_QC(SD_RDW_IS)_PF1(HB_SS_OM)_PFA_NC(HB_KM)_PN(KM).pdf |
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| author | Shiladitya Sil D Kerthna Shubhankar Ghosh Nilanjana Saha |
| author_facet | Shiladitya Sil D Kerthna Shubhankar Ghosh Nilanjana Saha |
| author_sort | Shiladitya Sil |
| collection | DOAJ |
| description | Marfan syndrome is considered a relatively rare genetic disorder that affects the connective tissues in the body. It is caused by a specific
mutation in the Fibrillin 1 (FBN1) gene, which is a critical component of microfibrils. The elastic fibres in various connective tissues,
composed of microfibrils, are affected in Marfan syndrome. This syndrome is associated with a vast array of clinical features involving
the cardiovascular, ocular, musculoskeletal, respiratory, and nervous systems. Skeletal malocclusion is an early and characteristic
manifestation of Marfan syndrome. Other cardinal features of the syndrome include tall stature, arachnodactyly, ectopic lentis, and
thoracic aortic aneurysm and dissection. Most clinicians fail to correlate the systemic features with the oral features, leading to
misdiagnosis or under-reported. Marfan Syndrome requires thorough understanding of the genetic components that directly result
in systemic manifestations, eventually leading to skeletal malocclusion, is crucial in managing the syndrome. A multidisciplinary
approach is required to assess the condition before planning and implementing appropriate treatment protocols. In the present
case report, authors presented a diagnosed case of Marfan syndrome. An 18-year-old female visited the Outpatient Department
(OPD) of Oral Medicine and Radiology at a Tertiary Care Centre in Siliguri, West Bengal, India, seeking management for her skeletal
malocclusion. After a thorough intraoral and extraoral examination, as well as smile assessment, orthognathic surgery was performed
for preliminary tooth alignment using fixed appliances. The patient’s healing process was uneventful, and she is currently being
followed-up without any evidence of relapse. Early diagnosis, intervention, and judicious treatment planning with a multidisciplinary
approach are key to achieving long-term stable results in correcting skeletal malocclusions associated with Marfan syndrome.
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| first_indexed | 2024-03-11T10:13:51Z |
| format | Article |
| id | doaj.art-78015cf6c1be45648bbc3fb623691f55 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-03-11T10:13:51Z |
| publishDate | 2023-11-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-78015cf6c1be45648bbc3fb623691f552023-11-16T12:17:33ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2023-11-011711010510.7860/JCDR/2023/65591.18668Orthodontic Perspective on Marfan Syndrome: A Unique Case ReportShiladitya Sil0D Kerthna1Shubhankar Ghosh2Nilanjana Saha3Assistant Professor, Department of Oral Medicine and Radiology, North Bengal Dental College and Hospital, Sushrutanagar, West Bengal, India.Senior Lecturer, Department of Orthodontics, CODS, Davangaree, Karnataka, India.Associate Professor, Department of Dentistry, Burdwan Medical College and Hospital, Burdwan, West Bengal, India.Associate Professor, Department of Pedodontics, Dr. R Ahmed Dental College and Hospital, Kolkata, West Bengal, India.Marfan syndrome is considered a relatively rare genetic disorder that affects the connective tissues in the body. It is caused by a specific mutation in the Fibrillin 1 (FBN1) gene, which is a critical component of microfibrils. The elastic fibres in various connective tissues, composed of microfibrils, are affected in Marfan syndrome. This syndrome is associated with a vast array of clinical features involving the cardiovascular, ocular, musculoskeletal, respiratory, and nervous systems. Skeletal malocclusion is an early and characteristic manifestation of Marfan syndrome. Other cardinal features of the syndrome include tall stature, arachnodactyly, ectopic lentis, and thoracic aortic aneurysm and dissection. Most clinicians fail to correlate the systemic features with the oral features, leading to misdiagnosis or under-reported. Marfan Syndrome requires thorough understanding of the genetic components that directly result in systemic manifestations, eventually leading to skeletal malocclusion, is crucial in managing the syndrome. A multidisciplinary approach is required to assess the condition before planning and implementing appropriate treatment protocols. In the present case report, authors presented a diagnosed case of Marfan syndrome. An 18-year-old female visited the Outpatient Department (OPD) of Oral Medicine and Radiology at a Tertiary Care Centre in Siliguri, West Bengal, India, seeking management for her skeletal malocclusion. After a thorough intraoral and extraoral examination, as well as smile assessment, orthognathic surgery was performed for preliminary tooth alignment using fixed appliances. The patient’s healing process was uneventful, and she is currently being followed-up without any evidence of relapse. Early diagnosis, intervention, and judicious treatment planning with a multidisciplinary approach are key to achieving long-term stable results in correcting skeletal malocclusions associated with Marfan syndrome. https://www.jcdr.net/articles/PDF/18668/65591_CE[Ra1]_F(SS)_QC(SD_RDW_IS)_PF1(HB_SS_OM)_PFA_NC(HB_KM)_PN(KM).pdfmalocclusionorthodontic correctionorthognathic surgeryskeletal deformity |
| spellingShingle | Shiladitya Sil D Kerthna Shubhankar Ghosh Nilanjana Saha Orthodontic Perspective on Marfan Syndrome: A Unique Case Report Journal of Clinical and Diagnostic Research malocclusion orthodontic correction orthognathic surgery skeletal deformity |
| title | Orthodontic Perspective on Marfan Syndrome: A Unique Case Report |
| title_full | Orthodontic Perspective on Marfan Syndrome: A Unique Case Report |
| title_fullStr | Orthodontic Perspective on Marfan Syndrome: A Unique Case Report |
| title_full_unstemmed | Orthodontic Perspective on Marfan Syndrome: A Unique Case Report |
| title_short | Orthodontic Perspective on Marfan Syndrome: A Unique Case Report |
| title_sort | orthodontic perspective on marfan syndrome a unique case report |
| topic | malocclusion orthodontic correction orthognathic surgery skeletal deformity |
| url | https://www.jcdr.net/articles/PDF/18668/65591_CE[Ra1]_F(SS)_QC(SD_RDW_IS)_PF1(HB_SS_OM)_PFA_NC(HB_KM)_PN(KM).pdf |
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