Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature

TL;DR

This paper reviews pediatric cases of Cornelia de Lange Syndrome to better understand its clinical and genetic variability and improve treatment strategies.

Contribution

The study integrates case series with literature to highlight new insights into CdLS diagnosis and management.

Findings

CdLS presents a wide clinical spectrum, complicating diagnosis and management in pediatric care.

Genetic testing innovations help detect mosaicism and novel variations, improving diagnostic accuracy.

Integrated, evidence-based care is essential for enhancing outcomes and quality of life for CdLS patients.

Abstract

Cornelia de Lange syndrome (CdLS) is a complex genetic disorder with distinct facial features, growth limitations, and limb anomalies. Its broad clinical spectrum presents significant challenges in pediatric diagnosis and management. Due to cohesin complex mutations, the disorder’s variable presentation requires extensive research to refine care and improve outcomes. This article provides a case series review of pediatric CdLS patients alongside a comprehensive literature review, exploring clinical variability and the relationship between genotypic changes and phenotypic outcomes. It also discusses the evolution of diagnostic and therapeutic techniques, emphasizing innovations in genetic testing, including detecting mosaicism and novel genetic variations. The aim is to synthesize case studies with current research to advance our understanding of CdLS and the effectiveness of management strategies in pediatric healthcare. This work highlights the need for an integrated, evidence-based approach to diagnosis and treatment. It aims to fill existing research gaps and advocate for holistic care protocols and tailored treatment plans for CdLS patients, ultimately improving their quality of life.

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