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...
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Format: | Book |
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Wolters Kluwer Medknow Publications,
2018-01-01T00:00:00Z.
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LEADER | 00000 am a22000003u 4500 | ||
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001 | doaj_e97253426a9944b888b7a05875d8e801 | ||
042 | |a dc | ||
100 | 1 | 0 | |a Charvi Chawla |e author |
700 | 1 | 0 | |a Prasanna Kumar Rao |e author |
700 | 1 | 0 | |a Raghavendra Kini |e author |
700 | 1 | 0 | |a Devika Shetty |e author |
245 | 0 | 0 | |a Cornelia de-Lange syndrome - A case report |
260 | |b Wolters Kluwer Medknow Publications, |c 2018-01-01T00:00:00Z. | ||
500 | |a 0972-1363 | ||
500 | |a 10.4103/jiaomr.JIAOMR_153_16 | ||
520 | |a 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. | ||
546 | |a EN | ||
690 | |a Cornelia de Lange Syndrome | ||
690 | |a congenital abnormality | ||
690 | |a dysmorphic features | ||
690 | |a growth retardation | ||
690 | |a Dentistry | ||
690 | |a RK1-715 | ||
690 | |a Medical physics. Medical radiology. Nuclear medicine | ||
690 | |a R895-920 | ||
655 | 7 | |a article |2 local | |
786 | 0 | |n Journal of Indian Academy of Oral Medicine and Radiology, Vol 30, Iss 1, Pp 92-95 (2018) | |
787 | 0 | |n http://www.jiaomr.in/article.asp?issn=0972-1363;year=2018;volume=30;issue=1;spage=92;epage=95;aulast=Chawla | |
787 | 0 | |n https://doaj.org/toc/0972-1363 | |
856 | 4 | 1 | |u https://doaj.org/article/e97253426a9944b888b7a05875d8e801 |z Connect to this object online. |