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"Journal of Clinical and Diagnostic Research is at present a well-known Indian originated scientific journal which started with a humble beginning. I have been associated with this journal since many years. I appreciate the Editor, Dr. Hemant Jain, for his constant effort in bringing up this journal to the present status right from the scratch. The journal is multidisciplinary. It encourages in publishing the scientific articles from postgraduates and also the beginners who start their career. At the same time the journal also caters for the high quality articles from specialty and super-specialty researchers. Hence it provides a platform for the scientist and researchers to publish. The other aspect of it is, the readers get the information regarding the most recent developments in science which can be used for teaching, research, treating patients and to some extent take preventive measures against certain diseases. The journal is contributing immensely to the society at national and international level."



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Professor and Head
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Saraswati Dental College
Lucknow
On Sep 2018




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Dr. Arundhathi. S
MBBS, MD (Pathology),
Sanjay Gandhi institute of trauma and orthopedics,
Bengaluru.
On Aug 2018




Dr. Mamta Gupta,
"It gives me great pleasure to be associated with JCDR, since last 2-3 years. Since then I have authored, co-authored and reviewed about 25 articles in JCDR. I thank JCDR for giving me an opportunity to improve my own skills as an author and a reviewer.
It 's a multispecialty journal, publishing high quality articles. It gives a platform to the authors to publish their research work which can be available for everyone across the globe to read. The best thing about JCDR is that the full articles of all medical specialties are available as pdf/html for reading free of cost or without institutional subscription, which is not there for other journals. For those who have problem in writing manuscript or do statistical work, JCDR comes for their rescue.
The journal has a monthly publication and the articles are published quite fast. In time compared to other journals. The on-line first publication is also a great advantage and facility to review one's own articles before going to print. The response to any query and permission if required, is quite fast; this is quite commendable. I have a very good experience about seeking quick permission for quoting a photograph (Fig.) from a JCDR article for my chapter authored in an E book. I never thought it would be so easy. No hassles.
Reviewing articles is no less a pain staking process and requires in depth perception, knowledge about the topic for review. It requires time and concentration, yet I enjoy doing it. The JCDR website especially for the reviewers is quite user friendly. My suggestions for improving the journal is, more strict review process, so that only high quality articles are published. I find a a good number of articles in Obst. Gynae, hence, a new journal for this specialty titled JCDR-OG can be started. May be a bimonthly or quarterly publication to begin with. Only selected articles should find a place in it.
An yearly reward for the best article authored can also incentivize the authors. Though the process of finding the best article will be not be very easy. I do not know how reviewing process can be improved. If an article is being reviewed by two reviewers, then opinion of one can be communicated to the other or the final opinion of the editor can be communicated to the reviewer if requested for. This will help one’s reviewing skills.
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Dr. Mamta Gupta
Consultant
(Ex HOD Obs &Gynae, Hindu Rao Hospital and associated NDMC Medical College, Delhi)
Aug 2018




Dr. Rajendra Kumar Ghritlaharey

"I wish to thank Dr. Hemant Jain, Editor-in-Chief Journal of Clinical and Diagnostic Research (JCDR), for asking me to write up few words.
Writing is the representation of language in a textual medium i e; into the words and sentences on paper. Quality medical manuscript writing in particular, demands not only a high-quality research, but also requires accurate and concise communication of findings and conclusions, with adherence to particular journal guidelines. In medical field whether working in teaching, private, or in corporate institution, everyone wants to excel in his / her own field and get recognised by making manuscripts publication.


Authors are the souls of any journal, and deserve much respect. To publish a journal manuscripts are needed from authors. Authors have a great responsibility for producing facts of their work in terms of number and results truthfully and an individual honesty is expected from authors in this regards. Both ways its true "No authors-No manuscripts-No journals" and "No journals–No manuscripts–No authors". Reviewing a manuscript is also a very responsible and important task of any peer-reviewed journal and to be taken seriously. It needs knowledge on the subject, sincerity, honesty and determination. Although the process of reviewing a manuscript is a time consuming task butit is expected to give one's best remarks within the time frame of the journal.
Salient features of the JCDR: It is a biomedical, multidisciplinary (including all medical and dental specialities), e-journal, with wide scope and extensive author support. At the same time, a free text of manuscript is available in HTML and PDF format. There is fast growing authorship and readership with JCDR as this can be judged by the number of articles published in it i e; in Feb 2007 of its first issue, it contained 5 articles only, and now in its recent volume published in April 2011, it contained 67 manuscripts. This e-journal is fulfilling the commitments and objectives sincerely, (as stated by Editor-in-chief in his preface to first edition) i e; to encourage physicians through the internet, especially from the developing countries who witness a spectrum of disease and acquire a wealth of knowledge to publish their experiences to benefit the medical community in patients care. I also feel that many of us have work of substance, newer ideas, adequate clinical materials but poor in medical writing and hesitation to submit the work and need help. JCDR provides authors help in this regards.
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In the era of fast growing newer technologies, and in computer and internet friendly environment the manuscripts preparation, submission, review, revision, etc and all can be done and checked with a click from all corer of the world, at any time. Of course there is always a scope for improvement in every field and none is perfect. To progress, one needs to identify the areas of one's weakness and to strengthen them.
It is well said that "happy beginning is half done" and it fits perfectly with JCDR. It has grown considerably and I feel it has already grown up from its infancy to adolescence, achieving the status of standard online e-journal form Indian continent since its inception in Feb 2007. This had been made possible due to the efforts and the hard work put in it. The way the JCDR is improving with every new volume, with good quality original manuscripts, makes it a quality journal for readers. I must thank and congratulate Dr Hemant Jain, Editor-in-Chief JCDR and his team for their sincere efforts, dedication, and determination for making JCDR a fast growing journal.
Every one of us: authors, reviewers, editors, and publisher are responsible for enhancing the stature of the journal. I wish for a great success for JCDR."



Thanking you
With sincere regards
Dr. Rajendra Kumar Ghritlaharey, M.S., M. Ch., FAIS
Associate Professor,
Department of Paediatric Surgery, Gandhi Medical College & Associated
Kamla Nehru & Hamidia Hospitals Bhopal, Madhya Pradesh 462 001 (India)
E-mail: drrajendrak1@rediffmail.com
On May 11,2011




Dr. Shankar P.R.

"On looking back through my Gmail archives after being requested by the journal to write a short editorial about my experiences of publishing with the Journal of Clinical and Diagnostic Research (JCDR), I came across an e-mail from Dr. Hemant Jain, Editor, in March 2007, which introduced the new electronic journal. The main features of the journal which were outlined in the e-mail were extensive author support, cash rewards, the peer review process, and other salient features of the journal.
Over a span of over four years, we (I and my colleagues) have published around 25 articles in the journal. In this editorial, I plan to briefly discuss my experiences of publishing with JCDR and the strengths of the journal and to finally address the areas for improvement.
My experiences of publishing with JCDR: Overall, my experiences of publishing withJCDR have been positive. The best point about the journal is that it responds to queries from the author. This may seem to be simple and not too much to ask for, but unfortunately, many journals in the subcontinent and from many developing countries do not respond or they respond with a long delay to the queries from the authors 1. The reasons could be many, including lack of optimal secretarial and other support. Another problem with many journals is the slowness of the review process. Editorial processing and peer review can take anywhere between a year to two years with some journals. Also, some journals do not keep the contributors informed about the progress of the review process. Due to the long review process, the articles can lose their relevance and topicality. A major benefit with JCDR is the timeliness and promptness of its response. In Dr Jain's e-mail which was sent to me in 2007, before the introduction of the Pre-publishing system, he had stated that he had received my submission and that he would get back to me within seven days and he did!
Most of the manuscripts are published within 3 to 4 months of their submission if they are found to be suitable after the review process. JCDR is published bimonthly and the accepted articles were usually published in the next issue. Recently, due to the increased volume of the submissions, the review process has become slower and it ?? Section can take from 4 to 6 months for the articles to be reviewed. The journal has an extensive author support system and it has recently introduced a paid expedited review process. The journal also mentions the average time for processing the manuscript under different submission systems - regular submission and expedited review.
Strengths of the journal: The journal has an online first facility in which the accepted manuscripts may be published on the website before being included in a regular issue of the journal. This cuts down the time between their acceptance and the publication. The journal is indexed in many databases, though not in PubMed. The editorial board should now take steps to index the journal in PubMed. The journal has a system of notifying readers through e-mail when a new issue is released. Also, the articles are available in both the HTML and the PDF formats. I especially like the new and colorful page format of the journal. Also, the access statistics of the articles are available. The prepublication and the manuscript tracking system are also helpful for the authors.
Areas for improvement: In certain cases, I felt that the peer review process of the manuscripts was not up to international standards and that it should be strengthened. Also, the number of manuscripts in an issue is high and it may be difficult for readers to go through all of them. The journal can consider tightening of the peer review process and increasing the quality standards for the acceptance of the manuscripts. I faced occasional problems with the online manuscript submission (Pre-publishing) system, which have to be addressed.
Overall, the publishing process with JCDR has been smooth, quick and relatively hassle free and I can recommend other authors to consider the journal as an outlet for their work."



Dr. P. Ravi Shankar
KIST Medical College, P.O. Box 14142, Kathmandu, Nepal.
E-mail: ravi.dr.shankar@gmail.com
On April 2011
Anuradha

Dear team JCDR, I would like to thank you for the very professional and polite service provided by everyone at JCDR. While i have been in the field of writing and editing for sometime, this has been my first attempt in publishing a scientific paper.Thank you for hand-holding me through the process.


Dr. Anuradha
E-mail: anuradha2nittur@gmail.com
On Jan 2020

Important Notice

Case report
Year : 2023 | Month : November | Volume : 17 | Issue : 11 | Page : ZD01 - ZD05 Full Version

Orthodontic Perspective on Marfan Syndrome: A Unique Case Report


Published: November 1, 2023 | DOI: https://doi.org/10.7860/JCDR/2023/65591.18668
Shiladitya Sil, D Kerthna, Shubhankar Ghosh, Nilanjana Saha

1. Assistant Professor, Department of Oral Medicine and Radiology, North Bengal Dental College and Hospital, Sushrutanagar, West Bengal, India. 2. Senior Lecturer, Department of Orthodontics, CODS, Davangaree, Karnataka, India. 3. Associate Professor, Department of Dentistry, Burdwan Medical College and Hospital, Burdwan, West Bengal, India. 4. Associate Professor, Department of Pedodontics, Dr. R Ahmed Dental College and Hospital, Kolkata, West Bengal, India.

Correspondence Address :
Dr. Shiladitya Sil,
Assistant Professor, Department of Oral Medicine and Radiology, North Bengal Dental College and Hospital, Sushrutanagar, West Bengal-734012, India.
E-mail: shiladitya.sil@gmail.com

Abstract

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.

Keywords

Malocclusion, Orthodontic correction, Orthognathic surgery, Skeletal deformity

Case Report

An 18-year-old female patient presented to the OPD of a Tertiary Care Centre with a chief complaint of improper tooth alignment and inability to close her mouth. The patient had a positive history of being diagnosed with Marfan syndrome and mild mitral valve tip prolapse. She was taking beta-blockers for her cardiac condition and occasionally experienced dyspnoea with slight exertion. Her cardiologist closely monitored her condition. During the patient’s family history assessment, it was found that she had two perfectly normal siblings who were five and three years older than her, respectively. Neither her paternal nor maternal family members had any history of similar conditions. The patient had a stout build and good nutritional status. Apart from mild pallor, there was no evidence of anaemia, cyanosis, clubbing, jaundice, or oedema.

In terms of facial features, the patient had a convex profile with posterior divergence, an obtuse nasolabial angle, and a shallow mentolabial sulcus. The Frankfort Mandibular Plane Angle (FMPA) was clinically evaluated at 220, indicating that the patient was a horizontal grower with a hypodivergent growth pattern. She had a positive lip step with an everted, incompetent, and protruded lower lip. Her face was dolichocephalic with a hyperleptoproscopic facial index. The patient’s skeletal midline was shifted to the right by 2 mm, with a philtrum height of 13 mm and commissure height of 24 mm. During smile assessment, it was observed that there was a 4 mm incisor exposure at rest and full crown exposure with 8 mm gingival exposure during smiling. The patient had a decreased buccal corridor and a flat smile arc (Table/Fig 1).

An end-on molar and canine relation was observed on the right-side, while a class III molar and canine relation was observed on the left-side. The patient had a 4 mm anterior open bite, 5 mm overjet, and enlarged adenoids. There was a positive history of tongue thrusting and mouth breathing habits. The upper midline was shifted to the right in relation to the skeletal midline, and the lower midline was shifted to the left in relation to the upper midline. The patient also had a V-shaped maxillary arch and a square-shaped mandibular arch with a high palatal contour. Severe crowding was present in the upper and lower anterior teeth. Additionally, tooth 15 was rotated, and there was excessive palatal soft tissue and cross-bite involving teeth 15, 22, 24, 25, 26, 27, 33, 34, 35, 36, 37, and 45 (Table/Fig 2),(Table/Fig 3). The clinical diagnosis was Angle’s class III malocclusion with proclined upper anterior teeth, lower anterior crowding, anterior open bite on a skeletal class III base with a hypodivergent growth pattern, anteriorly divergent maxilla and mandible, and habits of tongue thrusting and mouth breathing with incompetent, hypotonic lips.

Preoperative assessment of the airway was conducted using the Malampatti classification, neck mobility, and upper lip bite test (1). The initial examination revealed a restricted airway. Preoperative radiographic investigations, like Orthopantomogram (OPG) and lateral cephalogram, confirmed the preliminary diagnosis of a restricted airway (Table/Fig 4). The pre- and post-treatment cephalometric values are listed in (Table/Fig 5),(Table/Fig 6),(Table/Fig 7). The treatment objectives included correcting the proclined upper anterior teeth, lower anterior crowding, and anterior open bite, as well as correcting the cross bite. Additionally, the goal was to establish a patent airway, achieve a stable and harmonious soft tissue profile, and achieve functional occlusion with normal overjet and overbite. Prophylactic antibiotics were administered prior to tooth banding to reduce the risks of bacteraemia and subsequent endocarditis.

The stage I of treatment aimed at presurgical leveling and aligning. Orthodontic treatment began with the extraction of first premolars in the mandibular arch. Fixed appliance treatment was initiated using a 0.022”×0.028” MBT prescription. Initial aligning and leveling involved the use of a 0.014” Stainless Steel (SS) wire with bite blocks, followed by a 0.014” SS wire and a 0.018” SS wire in both the upper and lower arches. Extraction space closure was achieved using friction mechanics on a 0.019”×0.025” SS wire, with the second molar bonded. This was followed by the use of a 0.019” x 0.025” SS wire with buccal root torque in tooth 14. The total treatment duration was approximately 15 months. These interventions resulted in improvement in the inclination of the upper anterior teeth, relief of crowding in the lower arch, correction of proclination and crowding of the upper incisors, and decrowding, uprighting, and retracting of the lower incisors by utilising the space created by the molar extraction, thus increasing the overjet.

The surgical phase, stage II of treatment, primarily aimed at correcting the skeletal anomalies. Prior to the surgery, a 0.019” x 0.025” SS wire was placed in the upper arch and a 0.018” SS wire was placed in the lower arch. Orthognathic surgery was performed, resulting in a 6 mm mandibular setback, 4 mm maxillary setback, and 3 mm maxillary impaction. Immediately after the surgery, a temporary plate was placed, which was later removed for radiography. The 0.019” x 0.025” SS wire in the upper arch and 0.018” SS wire in the lower arch were left in place for four weeks postsurgery. The patient’s postoperative recovery was uneventful. Postoperative OPG and lateral cephalogram were taken to assess the skeletal outcome and revealed an improved airway in the patient (Table/Fig 8).

The finishing and settling phase began one month after the surgery, using a 0.018” SS wire and settling elastics in both the upper and lower arches. The total duration of the settling and finishing phase was six weeks, with periodic follow-ups at two weeks interval. Once functional, stable, and aesthetic occlusion was achieved (Table/Fig 3),(Table/Fig 9), the wires were removed, and the patient underwent rigid bi-weekly follow-ups for a total duration of 12 months. No relapses have been identified thus far.

Discussion

The National Marfan Foundation describes Marfan syndrome as an inheritable disorder of connective tissue that affects the heart, blood vessels, lungs, eyes, bones, and ligaments (2). The majority of mutations in the FBN1 gene are missense mutations, where a single nucleotide change results in the substitution of one amino acid for another in the FBN1 protein sequence. These mutations often disrupt the structure and function of fibrillin-1, leading to the characteristic features of Marfan syndrome (3). The worldwide incidence of Marfan syndrome is 7-17/100,000 (4). With the lack of specific laboratory tools, the main method of identification relies on the Ghent criteria, which delineate major and minor diagnostic features of the syndrome (5). The characteristic features of Marfan syndrome include serious cardiovascular complications with varying degrees of manifestation. While in the case report by Jain E and Pandey RK found patent ductus arteriosus and Ganesh R et al., revealed the presence of tricuspid and mitral valve prolapse with aortic dilatation (4),(6). Mitral valve tip prolapse was present in the present case report. Stengl R et al., and Price-Kuehne F et al., both reported aortic insufficiency in Marfan syndrome patients secondary to aneurysms and root dilatation, respectively (7),(8).

Pathognomonic ocular anomalies in Marfan syndrome include myopia and ectopic lentis, cataracts and retinal detachment, and rarely dislocation of the lens (4),(7),(9). In the present case report, no serious ocular complications were present. Other systemic manifestations among syndromic patients include musculoskeletal anomalies like joint laxity and hypermobility, skeletal anomalies like tall stature, long slender build with long arms, legs, and fingers, and a greater than normal wingspan. Respiratory complications like pneumothorax and obstructive sleep apnoea, and rarely neurological manifestations like dural ectasia, can also occur (5). Among the relatively uncommon systemic manifestations, Jain E and Pandey RK reported branchial arch syndrome, while Price-Kuehne F et al., reported systemic vasculitis, and Naidoo P et al., reported arachnodactyly, pectus carinatum deformity, hind foot valgus, scoliosis, down-slanting palpebral fissures, and malar hypoplasia (4),(8),(9). In the present case report, arachnodactyly was present.

Skeletal malocclusions in Marfan syndrome can have significant functional and psychosocial implications. Skeletal malocclusion is known to affect biting and chewing efficiency, leading to difficulties in food consumption and eventually digestion. Speech may also be affected due to improper alignment of the teeth and jaws. Additionally, the visible impact of skeletal malocclusions on facial aesthetics can have a negative impact on an individual’s self-esteem and overall quality of life (5),(10). Almost all of the Marfan syndrome patients reported by Ganesh R et al., Stengl R et al., Price-Kuehne F et al., Jain E and Pandey RK, and Naidoo P et al., were associated with some form of skeletal malocclusion ranging from Angle’s class I to class II with subdivisions (4),(6),(7),(8),(9). This indicates that skeletal malocclusion is one of the most common and diagnostic features among Marfan syndrome patients, highlighting the role of dentists in the early diagnosis and intervention. The management of skeletal malocclusions in syndromic patients often requires a multidisciplinary approach, involving collaboration between orthodontists and other medical professionals. Close coordination with cardiologists and ophthalmologists is crucial to ensure the overall health and well-being of the patients (3).

The index patient had already been diagnosed with Marfan syndrome when she reported to the OPD and was undergoing extensive treatment for her systemic conditions. No major challenges were faced during her treatment and/or surgical phase. Her cardiologist was consulted before commencing the surgery, and the entire treatment was done in collaboration with her treating cardiologist, general physician, and ophthalmologist. The patient presented at 18 years of age, allowing for early initiation of treatment. Early diagnosis and treatment planning played a pivotal role in avoiding severe skeletal symptoms that could have developed later in her life (6),(7),(8),(9). Before planning orthognathic surgery, her dental crowding was aligned with fixed appliances. The goal of treatment was to improve dental alignment, optimise functional occlusion, and enhance facial aesthetics. The desired results could be achieved with the proposed treatment plan, and the patient is currently under strict follow-up without any evidence of relapse.

This is the first reported case of Marfan syndrome where the orthodontic management of skeletal malocclusion has been discussed in detail. The present case report can serve as a guide on how to clinically assess skeletal malocclusion and provide management using an interdisciplinary approach. Future directions would be to understand the underlying mechanisms of skeletal malocclusions in Marfan syndrome and develop targeted therapies to address these specific dental challenges (11). None of the previously reported cases of Marfan syndrome discuss the management of skeletal malocclusion and the challenges encountered (Table/Fig 10) (4),(6),(7),(8),(9),(12).

Conclusion

Patients with Marfan syndrome can undergo orthodontic treatment, just like their healthy counterparts. Surgical procedures can be undertaken with appropriate precautions and a multidisciplinary approach. The presence of cardiac and systemic conditions, along with skeletal malocclusion and a prior diagnosis, makes the present case unique and likely the first of its kind where the complete orthodontic treatment, including the surgical part, has been described in detail. Early diagnosis and proper treatment planning remain imperative for the long-term success of treatment and stable results.

References

1.
Mouri M, Krishnan S, Hendrix JM, Maani CV. Airway Assessment. [Updated 2023 May 25]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan.
2.
Bauss O, Neter D, Rahman A. Prevalence of pulp calcifications in patients with Marfan Syndrome. Oral Surg. Oral Med. Oral Pathol. Oral Radiol. Endodontol. 2008;106(6):e56-e61. [crossref][PubMed]
3.
Suzuki JI, Imai Y, Aoki M, Fujita D, Aoyama, N, Tada Y, et al., High incidence and severity of periodontitis in patients with Marfan Syndrome in Japan. Heart Vessel. 2015;30(5):692-95. [crossref][PubMed]
4.
Jain E, Pandey RK. Marfan syndrome. BMJ Case Rep Published online. 2013;23(2):211-14. Doi:10.1136/bcr-2013-201632. [crossref][PubMed]
5.
Ades L, CSANZ Cardiovascular Genetics Working Group. Guidelines for the diagnosis and management of Marfan syndrome. Heart Lung Circ. 2007;16(1):28-30. [crossref][PubMed]
6.
Ganesh R, Vijayakumar R, Selvakumar H. Marfan Syndrome- A case report. Case Rep in Dent. 2012;12(4):361-64. [crossref][PubMed]
7.
Stengl R, Ágg B, Szilveszter B, Benke K, Daradics N, Ruskó B, et al. Morphological characterisation and long-term observation of bilateral sequential internal mammary artery aneurysms in a patient with confirmed FBN1 mutation. Front Cardiovasc Med. 2021;8:697591. Doi: 10.3389/fcvm.2021.697591.[crossref][PubMed]
8.
Price-Kuehne F, Omoyinmi E, Younes M, Edwards M, Eleftheriou D, Brogan P. Marfan syndrome (MFS) mimicking cutaneous vasculitis. Front Pediatr. 2023;11:1205-09. Doi: 10.3389/fped.2023.1205255. [crossref][PubMed]
9.
Naidoo P, Ranjith N, Zikalala Z, Mahoney S, Ho K. Marfan syndrome: A case report and pictorial essay. Pan Afr Med J. 2018;30:171-76. [crossref][PubMed]
10.
Nienaber CA, Von Kodolitsch Y. Therapeutic management of patients with Marfan syndrome: Focus on cardiovascular involvement. Cardiol Rev. 1999;7(6):332-41. [crossref][PubMed]
11.
Ammash NM, Sundt TM Connolly HM. Marfan Syndrome-Diagnosis and management. Curr. Probl. Cardiol. 2008;33(1):07-39. [crossref][PubMed]
12.
Cheema T, Balek M, Smith P, Hanan S. A case report of Marfan Syndrome presenting with atypical chest pain: A 28-year-old male with Non-ST-Elevation Myocardial Infarction (NSTEMI). Cureus. 2022;14(2):e22040.[crossref]

DOI and Others

DOI: 10.7860/JCDR/2023/65591.18668

Date of Submission: May 24, 2023
Date of Peer Review: Jul 22, 2023
Date of Acceptance: Sep 14, 2023
Date of Publishing: Nov 01, 2023

AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. Yes

PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: May 25, 2023
• Manual Googling: Aug 05, 2023
• iThenticate Software: Sep 12, 2023 (11%)

ETYMOLOGY: Author Origin

EMENDATIONS: 7

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