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

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.

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Journal
Cureus
Published
2024-11-19
DOI
https://doi.org/10.7759/cureus.74007
Primary Topic
Genomics and Chromatin Dynamics
Type
article
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0.00
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article

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

Hanae Bahari, Aziza Elouali, Hind Zahiri, Abdeladim Babakhouya et al.
Cureus
Genomics and Chromatin Dynamics
article

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

Hanae Bahari, Aziza Elouali, Hind Zahiri, Abdeladim Babakhouya, Maria Rkain
article en

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.

CureusVol. 16(11)
Mohamed I University (MA)
Gender equality
Openalex Percentile: Top 81%
Genomics and Chromatin Dynamics
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