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Cornelia de Lange Syndrome: A Case Series from a Resource-Limited Country

Indar K Sharawat1, Lesa Dawman2

  • 1Department of Pediatrics, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

Journal of Pediatric Neurosciences
|October 2, 2018
PubMed

Insights

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder causing developmental issues. Early diagnosis and management of CdLS symptoms are crucial for better patient outcomes.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by developmental abnormalities and malformations affecting multiple organ systems.
  • Understanding the clinical spectrum and outcomes of CdLS is essential for effective patient management.

Observation:

  • A retrospective study of six children diagnosed with CdLS between 2013 and 2015 was conducted.
  • Commonly observed features included developmental retardation, recurrent respiratory infections, feeding difficulties, and characteristic facial anomalies such as synophrys and low hairline.

Findings:

  • All studied children presented with developmental retardation and distinct facial features.
  • Recurrent respiratory tract infections and feeding difficulties were prevalent among the cases.

Implications:

  • CdLS is a multisystem disorder necessitating interdisciplinary care.
  • Prompt diagnosis and management of associated conditions are vital for improving outcomes in children with CdLS.

Keywords:
Brachmann-de Lange syndromedevelopmental disorderrespiratory tract infectionsynophrys

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