Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Dr Mohan Z Mani

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On Sep 2018




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Prof. Somashekhar Nimbalkar
Head, Department of Pediatrics, Pramukhswami Medical College, Karamsad
Chairman, Research Group, Charutar Arogya Mandal, Karamsad
National Joint Coordinator - Advanced IAP NNF NRP Program
Ex-Member, Governing Body, National Neonatology Forum, New Delhi
Ex-President - National Neonatology Forum Gujarat State Chapter
Department of Pediatrics, Pramukhswami Medical College, Karamsad, Anand, Gujarat.
On Sep 2018




Dr. Kalyani R

"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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Sri Devaraj Urs Medical College
Sri Devaraj Urs Academy of Higher Education and Research , Kolar, Karnataka
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Dr. Saumya Navit

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Dr Saumya Navit
Professor and Head
Department of Pediatric Dentistry
Saraswati Dental College
Lucknow
On Sep 2018




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Dr. Arunava Biswas
MD, DM (Clinical Pharmacology)
Assistant Professor
Department of Pharmacology
Calcutta National Medical College & Hospital , Kolkata




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Best regards,
C.S. Ramesh Babu,
Associate Professor of Anatomy,
Muzaffarnagar Medical College,
Muzaffarnagar.
On Aug 2018




Dr. Arundhathi. S
"Journal of Clinical and Diagnostic Research (JCDR) is a reputed peer reviewed journal and is constantly involved in publishing high quality research articles related to medicine. Its been a great pleasure to be associated with this esteemed journal as a reviewer and as an author for a couple of years. The editorial board consists of many dedicated and reputed experts as its members and they are doing an appreciable work in guiding budding researchers. JCDR is doing a commendable job in scientific research by promoting excellent quality research & review articles and case reports & series. The reviewers provide appropriate suggestions that improve the quality of articles. I strongly recommend my fraternity to encourage JCDR by contributing their valuable research work in this widely accepted, user friendly journal. I hope my collaboration with JCDR will continue for a long time".



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.
My best wishes to Dr. Hemant Jain and all the editorial staff of JCDR for their untiring efforts to bring out this journal. I strongly recommend medical fraternity to publish their valuable research work in this esteemed journal, JCDR".



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.
Timely publication of journal: Publication of manuscripts and bringing out the issue in time is one of the positive aspects of JCDR and is possible with strong support team in terms of peer reviewers, proof reading, language check, computer operators, etc. This is one of the great reasons for authors to submit their work with JCDR. Another best part of JCDR is "Online first Publications" facilities available for the authors. This facility not only provides the prompt publications of the manuscripts but at the same time also early availability of the manuscripts for the readers.
Indexation and online availability: Indexation transforms the journal in some sense from its local ownership to the worldwide professional community and to the public.JCDR is indexed with Embase & EMbiology, Google Scholar, Index Copernicus, Chemical Abstracts Service, Journal seek Database, Indian Science Abstracts, to name few of them. Manuscriptspublished in JCDR are available on major search engines ie; google, yahoo, msn.
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

Images in Medicine
Year : 2024 | Month : March | Volume : 18 | Issue : 3 | Page : ZJ03 - ZJ04 Full Version

Dental Management of a Rare Case of Cornelia de Lange Syndrome


Published: March 1, 2024 | DOI: https://doi.org/10.7860/JCDR/2024/67225.19170
Joby Peter, R Krishna Kumar, John Joseph Methippara, Reshma A Joseph, Amina Sherafudeen

1. Professor and Head, Department of Paediatric and Preventive Dentistry, Annoor Dental College and Hospital, Muvattupuzha, Kerala, India. 2. Professor, Department of Paediatric and Preventive Dentistry, Annoor Dental College and Hospital, Muvattupuzha, Kerala, India. 3. Professor, Department of Paediatric and Preventive Dentistry, Annoor Dental College and Hospital, Muvattupuzha, Kerala, India. 4. Assistant Professor, Department of Paediatric and Preventive Dentistry, Annoor Dental College and Hospital, Muvattupuzha, Kerala, India. 5. Final Year Postgraduate Student, Department of Paediatric and Preventive Dentistry, Annoor Dental College and Hospital, Muvattupuzha, Kerala, India.

Correspondence Address :
Dr. R Krishna Kumar,
Professor, Department of Paediatric and Preventive Dentistry, Annoor Dental College and Hospital, Muvattupuzha-686673, Kerala, India.
E-mail: drkrishnapedo@gmail.com

Abstract

A six-year-old female patient with Cornelia de Lange Syndrome (CdLS) presented to the Department of Paediatric and Preventive Dentistry with multiple mutilated teeth and an inability to chew, resulting in low food intake. The patient complained of nocturnal pain and disturbed sleep. A behavioural analysis of the child showed that she was introverted, had difficulty in interacting with other children or strangers, and exhibited distinctly negative behaviour, as per Frankel’s behaviour rating scale.

Extraoral findings included facial dysmorphism, a triangular face, low frontal hairline, thick and highly arched eyebrows, widely spaced eyes (hypertelorism) with mild epicanthal fold, a shallow and protruded philtrum, and a wide mouth with downward-slanting corners (Table/Fig 1),(Table/Fig 2). No skeletal deformities were noted. These facial findings were suggestive of CdLS.

Intraoral findings included narrowed mandibular and maxillary arches, a high-arched palate, and crowding of teeth (Table/Fig 3),(Table/Fig 4). Dental caries were observed in relation to 52, 62, and 63, with deep dental caries in relation to 55, 65, 64, 51, 52, 74, 75, 84, and 85. Due to the child’s inability to cooperate during dental treatment because of her mental disability and difficulties in managing her behaviour, it was decided that full mouth rehabilitation would be done under General Anaesthesia (GA). The major challenge in performing the procedure under GA was the child’s airway features, specifically micrognathia, restricted mouth opening, receding chin, and stiff neck. These features hindered the visualisation of the vocal cords during laryngoscopy and Endotracheal Tube (ETT) placement. To manage the narrow airway of the patient, a modification in the Ryles tube was performed. An Oral/Nasal Endotracheal Tube (ONETT) was used in the present study. The family was fully informed about all clinical procedures, and the parents signed an informed consent form before the treatment.

Pulpectomy was performed on teeth 55 and 65, followed by the placement of Stainless Steel Crowns (SSCs) (Table/Fig 5). Silver Diamine Fluoride (SDF) was applied, followed by the Hall technique in relation to teeth 54 and 64. Additionally, SDF application was done with respect to teeth 52, 53, 62, and 63, and extractions were performed for teeth 51, 61, 74, 75, 84, and 85. Immediate post-operative images of the mandibular arch could not be taken due to profuse bleeding. A follow-up image has been added as (Table/Fig 6). The patient was followed-up after six months and one year, showing an improvement in dental hygiene and no new caries. Thus, there was an overall improvement in the quality of life and general health of the patient.

Keywords

Full mouth rehabilitation, General anesthesia, Mandibular arch, Maxillary arch

Discussion

In 1916, Dr. Brachmann initially described CdLS, also known as Brachmann-de Lange syndrome. Two cases of this syndrome were reported by Dr. Cornelia de Lange in 1933 (1). CdLS is a genetic syndrome that affects between 1 in 10,000 and 1 in 60,000 neonates, with no racial predilection. It is more commonly observed in females (1.3:1) (2). The molecular and genetic basis of this syndrome is not completely clear. However, it is thought to involve a dominant mutation in five genes, namely Nipped-Blike Protein (NIPBL), Structural Maintenance of Chromosomes 1A (SMC1A), Structural Maintenance of Chromosomes 3 (SMC3), Human Homolog of Schizosaccharomyces pombe radiation-sensitive mutant 21 (RAD21) and Hstone Deacetylase 8 (HDAC8), which have been associated with CdLS (3).

Anomalies in limb structure, delayed growth and development, mental retardation, hirsutism, and distinctive facial characteristics are the main clinical features of this syndrome (4). Regarding mental retardation, most cases fall under the profoundly disabled category. The Intellectual Quotient ranges from below 30 to 86 (average: 53), and initial hypertonicity is a common finding that hinders their performance (5).

Extraoral findings include micrognathia, down-slanted mouth angles, a long shallow philtrum, and a prominent symphysis. Intraoral examination usually reveals delayed eruption with a high-arched palate (6).

The aim of the present case report was to describe the challenges faced during the dental management of patients with CdLS, to identify the clinical features, and to demonstrate how treatment resulted in the improvement of the quality of life for these patients.

The above case presents the main characteristics of this syndrome, which have been well-documented previously. CdLS not only exhibits clinical but also genetic heterogeneity and, so far, pathogenic Deoxyribonucleic Acid (DNA) sequence variation. The genes responsible for CdLS are NIPBL, SMC1A, SMC3, RAD21, and HDAC8 (7). Mutations in NIPBL, SMC3, and RAD21 lead to the autosomal dominant form of CdLS (AD-CdLS), while the causative genes in X-linked CdLS are SMC1A and HDAC8. Among the five genes, the NIPBL gene accounts for about 80% of the mutated cases (8).

Due to the difficulty in managing the child’s behaviour and her mental disability, it was decided to perform full mouth rehabilitation under GA. The present case report mainly emphasises the dental management of CdLS.

Even for an experienced clinician, diagnosing mild cases of this syndrome is a challenging task. Complications associated with CdLS, both medically and developmentally, make dental treatment difficult. The prime concern in treating such patients is the management of the airway. Difficult airway should thus be expected in every case of CdLS, and proper preparations for airway management should be conducted. To manage the narrow airway in this patient, modifications were made to the Ryles tube. Special attention was given to the patient throughout the postoperative period. Managing patients with CdLS requires a multidisciplinary approach that includes nutritionists, cardiologists, geneticists, nephrologists, gastroenterologists, ophthalmologists, paediatric dentists, and paediatricians (9).

The CdLS is a complicated disorder in which multiple body systems are affected, and understanding the role of a paediatric dentist in treating patients with CdLS is important. It is not just limited to treating dental defects. Dental management and behaviour shaping of such children are crucial to deliver quality dental care. Thorough evaluation and early intervention are necessary in these patients, as they are at a higher risk for self-inflicting oral habits, orthodontic problems, and dental caries.

References

1.
Jackson L, Kline AD, Barr MA, Koch S. de Lange syndrome: A clinical review of 310 individuals. Am J Med Genet. 1993;47(7):940-46. [crossref][PubMed]
2.
Guadagni MG, Cetrullo N, Piana, G. Cornelia de Lange syndrome: Description of the orofacial features and case report. Eur J Paediatr Dent. 2008;9(4 Suppl):09-13.
3.
Boyle MI, Jespersgaard C, Brøndum-Nielsen K, Bisgaard AM, Tümer Z. Cornelia de Lange syndrome. Clin Genet. 2015;88(1):01-12. [crossref][PubMed]
4.
Grau-Carbó J, López-Jimenez J, Gimenez-Prats MJ, Sánchez-Molins M. Cornelia de Lange syndrome: A case report. Med Oral Patol Oral Cir Bucal. 2007;12(6):E445-48.
5.
Kouchaji C, al Saitary MMS. Cornelia De lange syndrome and dental treatment: A case report. Mod Res Dent. 2021;6(2):000631. [crossref]
6.
Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet. 2007;145C(3):248-60. [crossref][PubMed]
7.
Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet. 2004;36(6):636-41. [crossref][PubMed]
8.
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, et al. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet. 2014;23(11):2888-900. [crossref][PubMed]
9.
Gupta D, Goyal S. Cornelia de Lange syndrome. J Indian Soc Pedod Prev Dent. 2005;23(1):38-41.[crossref][PubMed]

DOI and Others

DOI: 10.7860/JCDR/2024/67225.19170

Date of Submission: Aug 25, 2023
Date of Peer Review: Nov 16, 2023
Date of Acceptance: Jan 11, 2024
Date of Publishing: Mar 01, 2024

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: Aug 29, 2023
• Manual Googling: Nov 22, 2023
• iThenticate Software: Jan 08, 2024 (20%)

ETYMOLOGY: Author Origin

EMENDATIONS: 6

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