CORNELIA DE LANGE SYNDROME: A CASE REPORT
Abstract
Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The first ever documented case was in 1916 by W. Brachmann followed up by Cornelia de Lange, a Dutch pediatrician, in 1933 after whom the disorder has been named.1,2
References
1. Jones KL: Smith’s Recognizable Patterns of Human Malformation, 4th ed. Saunders, 1988.
2. http://www.whonamedit.com/synd.cfm/1080.html
3. Buyse ML: Birth Defects Encyclopedia. Blackwell, 1990.
4. Stevenson RE, Hall JG, Goodman RM (editors): Human Malformations and Related Anomalies. Vols 1 and 2. Oxford Univ Press, 1993.
5. Krantz ID, McCallum J, DeScipio C, et al. (2004). "Cornelia de Lange syndrome is
caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-
B". Nature Genetics 36 (6): 631–5.
6. Tonkin E, Wang TJ, Lisgo S, Bamshad MJ, Strachan T (2004). "NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome". Nature Genetics 36 (6): 636–641.
7. Liu J, Krantz ID (October 2009). "Bushy Syndrome, cohesin, and beyond". Clin. Genet. 76 (4): 303–14.
2. http://www.whonamedit.com/synd.cfm/1080.html
3. Buyse ML: Birth Defects Encyclopedia. Blackwell, 1990.
4. Stevenson RE, Hall JG, Goodman RM (editors): Human Malformations and Related Anomalies. Vols 1 and 2. Oxford Univ Press, 1993.
5. Krantz ID, McCallum J, DeScipio C, et al. (2004). "Cornelia de Lange syndrome is
caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-
B". Nature Genetics 36 (6): 631–5.
6. Tonkin E, Wang TJ, Lisgo S, Bamshad MJ, Strachan T (2004). "NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome". Nature Genetics 36 (6): 636–641.
7. Liu J, Krantz ID (October 2009). "Bushy Syndrome, cohesin, and beyond". Clin. Genet. 76 (4): 303–14.
Published
2011-06-01
How to Cite
BABIKIR, Haydar E..
CORNELIA DE LANGE SYNDROME: A CASE REPORT.
Gezira Journal of Health Sciences, [S.l.], v. 7, n. 2, june 2011.
ISSN 1810-5386. Available at: <http://37.60.236.48/index.php/gjhs/article/view/305>. Date accessed: 03 june 2026.
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