Home|Journals|Articles by Year

Directory for Medical Articles

Case Report

Med Arch. 2018; 72(4): 297-299

Cornelia De Lange Syndrome In A 4-Year-Old Child From India: Phenotype Description And Role Of Genetic Counseling

Girish Gulab Meshram, Neeraj Kaur, Kanwaljeet Singh Hura.


Introduction: Cornelia de Lange syndrome (CdLS) is a congenital disorder marked by distinctive facial features, severe growth restriction, cognitive disability, global developmental delay, and anomalies involving multiple body organs. Majority cases of CdLS are caused due to sporadic mutations in the NIPBL, SMC1A, SMC3, RAD21, or HDAC8 genes, which form/regulate a multiprotein complex called cohesin. Cohesin is required for the separation of sister chromatids during cell division. Case report: We present a rare case of a 4-year-old child from India depicting classical features of CdLS. The patient was managed symptomatically by a multidisciplinary team and was requested regular follow-ups. Conclusion: Phenotype description according to ethnicity may help in diagnosing CdLS. A multipronged approach by a team of physicians from various faculties is required for providing comprehensive medical care to patients with CdLS.

Key words: Cornelia de Lange syndrome, NIPBL, limb malformations.

Full-text options

Share this Article

Online Article Submission
• ejmanager.com

Review(er)s Central
About BiblioMed
License Information
Terms & Conditions
Privacy Policy
Contact Us

The articles in Bibliomed are open access articles licensed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License (https://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.