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INTERNATIONAL JOURNAL OF SCIENTIFIC DEVELOPMENT AND RESEARCH International Peer Reviewed & Refereed Journals, Open Access Journal ISSN Approved Journal No: 2455-2631 | Impact factor: 8.15 | ESTD Year: 2016 open access , Peer-reviewed, and Refereed Journals, Impact factor 8.15 |
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| Paper Title: | Cockayne Syndrome - A Review |
| Authors Name: | M. Pooja Umaiyal , M. Dinesh Prabhu |
| Unique Id: | IJSDR2007052 |
| Published In: | Volume 5 Issue 7, July-2020 |
| Abstract: | Cockayne syndrome is a rare disorder with a recessive autosomal inheritance. It is also known as Neill-Dingwall syndrome. Patients with this syndrome are characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate, abnormally small head size, photosensitivity and impaired development of the nervous system. Oral features present in this syndrome include delayed eruption of the primary teeth, congenitally absent of some permanent teeth, partial macrodontia, atrophy of the alveolar process and caries. It is described to be caused by two gene mutations, ERCC6 and ERCC8, causing two types of cockayne syndrome, CS-A, secondary to a ERCC8 mutation and CS-B with ERCC6 mutation. Mutantations of XPB, XPD and XPG genes are also associated with cockayne syndrome.This article provides information on the types of cockayne syndrome, causes, symptoms, clinical features and treatment. This article has been initiated to provide the readers with required information on the syndrome and to bring in an awareness about the presence and occurrence of cockayne syndrome with its possible characteristics. The aim of this review is to expand the knowledge of the clinical characteristics of children with cockayane syndrome. |
| Keywords: | Recessive autosomal inheritance,Premature ageing, photosensitivity, CKN1 type, CSA type, CSB type, ERCC6 gene, ERCC8 gene, macrodontia,growth and development retardation. |
| Cite Article: | "Cockayne Syndrome - A Review", International Journal of Science & Engineering Development Research (www.ijsdr.org), ISSN:2455-2631, Vol.5, Issue 7, page no.381 - 383, July-2020, Available :http://www.ijsdr.org/papers/IJSDR2007052.pdf |
| Downloads: | 000337070 |
| Publication Details: | Published Paper ID: IJSDR2007052 Registration ID:192121 Published In: Volume 5 Issue 7, July-2020 DOI (Digital Object Identifier): Page No: 381 - 383 Publisher: IJSDR | www.ijsdr.org ISSN Number: 2455-2631 |
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