MARATTO

article · Cureus

A Nine-Year-Old Girl With Cornelia de Lange Syndrome: A Case Report and Review of the Literature

2024Open accessMohamed I University

Abstract

Cornelia de Lange syndrome is a genetic disorder that affects multiple systems. It is characterized by growth delays and psychomotor retardation associated with various anomalies, including hirsutism, facial dysmorphism, cardiac abnormalities, upper-extremity malformations, and gastrointestinal disorders. Early detection and appropriate management of associated disorders are essential for achieving favorable outcomes. We present our first case of Cornelia de Lange syndrome, diagnosed at the age of nine years in the Pediatrics Department of Mohammed VI University Hospital in Oujda, Morocco.

Research topics

  • Genomics and Chromatin Dynamics
  • RNA Research and Splicing
  • Cancer-related gene regulation

Sustainable Development Goals

Read the original research

This page summarises published work. The authoritative version sits with the publisher.

DOI: 10.7759/cureus.74007

Is something wrong with this record? Report it or request removal.

Discussion

Discuss this research

Have you built on this work, tried to replicate it, or seen it applied in practice? Share what you know. Verified researchers and MARATTO™ domain experts can open a discussion, and any member can reply. Contributions are reviewed before they appear.

No discussion yet. Open the first thread.