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 |
| Published: |
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 |
| Summary: | 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. |
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| ISSN: | 0972-1363 |