Cornelia de-Lange syndrome - A case report
Cornelia de-Lange syndrome (CdLS) is a rare multisystem developmental disorder characterized by psychomotor retardation and delayed growth associated with a series of malformations, including facial dysmorphia, upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal abnormali...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2018-01-01
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| Series: | Journal of Indian Academy of Oral Medicine and Radiology |
| Subjects: | |
| Online Access: | http://www.jiaomr.in/article.asp?issn=0972-1363;year=2018;volume=30;issue=1;spage=92;epage=95;aulast=Chawla |
| _version_ | 1818109972061356032 |
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| author | Charvi Chawla Prasanna Kumar Rao Raghavendra Kini Devika Shetty |
| author_facet | Charvi Chawla Prasanna Kumar Rao Raghavendra Kini Devika Shetty |
| author_sort | Charvi Chawla |
| collection | DOAJ |
| description | Cornelia de-Lange syndrome (CdLS) is a rare multisystem developmental disorder characterized by psychomotor retardation and delayed growth associated with a series of malformations, including facial dysmorphia, upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal abnormalities. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of syndrome so it is important for the clinician to know etiopathological aspects and characteristic features to provide health care and help improve the quality of life of affected individuals. |
| first_indexed | 2024-12-11T02:39:44Z |
| format | Article |
| id | doaj.art-e97253426a9944b888b7a05875d8e801 |
| institution | Directory Open Access Journal |
| issn | 0972-1363 |
| language | English |
| last_indexed | 2024-12-11T02:39:44Z |
| publishDate | 2018-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Indian Academy of Oral Medicine and Radiology |
| spelling | doaj.art-e97253426a9944b888b7a05875d8e8012022-12-22T01:23:36ZengWolters Kluwer Medknow PublicationsJournal of Indian Academy of Oral Medicine and Radiology0972-13632018-01-01301929510.4103/jiaomr.JIAOMR_153_16Cornelia de-Lange syndrome - A case reportCharvi ChawlaPrasanna Kumar RaoRaghavendra KiniDevika ShettyCornelia de-Lange syndrome (CdLS) is a rare multisystem developmental disorder characterized by psychomotor retardation and delayed growth associated with a series of malformations, including facial dysmorphia, upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal abnormalities. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of syndrome so it is important for the clinician to know etiopathological aspects and characteristic features to provide health care and help improve the quality of life of affected individuals.http://www.jiaomr.in/article.asp?issn=0972-1363;year=2018;volume=30;issue=1;spage=92;epage=95;aulast=ChawlaCornelia de Lange Syndromecongenital abnormalitydysmorphic featuresgrowth retardation |
| spellingShingle | Charvi Chawla Prasanna Kumar Rao Raghavendra Kini Devika Shetty Cornelia de-Lange syndrome - A case report Journal of Indian Academy of Oral Medicine and Radiology Cornelia de Lange Syndrome congenital abnormality dysmorphic features growth retardation |
| title | Cornelia de-Lange syndrome - A case report |
| title_full | Cornelia de-Lange syndrome - A case report |
| title_fullStr | Cornelia de-Lange syndrome - A case report |
| title_full_unstemmed | Cornelia de-Lange syndrome - A case report |
| title_short | Cornelia de-Lange syndrome - A case report |
| title_sort | cornelia de lange syndrome a case report |
| topic | Cornelia de Lange Syndrome congenital abnormality dysmorphic features growth retardation |
| url | http://www.jiaomr.in/article.asp?issn=0972-1363;year=2018;volume=30;issue=1;spage=92;epage=95;aulast=Chawla |
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