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Related Experiment Video

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Cornelia de Lange syndrome.

Nida Noor¹, Zehra Kazmi, Ayesha Mehnaz

¹Department of Paediatrics, Civil Hospital, Dow University of Health Sciences, Karachi.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP

|May 29, 2012

Summary

This summary is machine-generated.

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder presenting with distinctive facial features, developmental delays, and physical malformations. This case highlights a newborn male diagnosed with CdLS due to characteristic facial dysmorphia and growth issues.

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Area of Science:

Genetics
Pediatrics
Developmental Biology

Background:

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder.
It is characterized by multisystem developmental abnormalities.

Observation:

A newborn male presented with feeding regurgitation, choking, and cyanosis.
Distinctive facial dysmorphism including arched eyebrows, long philtrum, thin upper lip, depressed nasal bridge, and hirsutism was noted.

Findings:

The patient exhibited pre- and postnatal growth retardation.
Physical malformations, including limb defects, were present.
Diagnosis of CdLS was confirmed based on characteristic facial features and developmental issues.

Implications:

Early recognition of CdLS is crucial for timely intervention.
Understanding CdLS aids in managing associated medical complications.
This case contributes to the literature on CdLS presentation in newborns.