Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

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

Karolina Gruca-Stryjak
* ORCID logo ,
Emilia Doda-Nowak
,
Julia Dzierla
,
Karolina Wrobel
,
Marta Szymankiewicz-Breborowicz
,
Jan Mazela
Version 1 : Received: 10 February 2024 / Approved: 12 February 2024 / Online: 13 February 2024 (08:04:32 CET)

A peer-reviewed article of this Preprint also exists.

Gruca-Stryjak, K.; Doda-Nowak, E.; Dzierla, J.; Wróbel, K.; Szymankiewicz-Bręborowicz, M.; Mazela, J. Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature. J. Clin. Med. 2024, 13, 2423. Gruca-Stryjak, K.; Doda-Nowak, E.; Dzierla, J.; Wróbel, K.; Szymankiewicz-Bręborowicz, M.; Mazela, J. Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature. J. Clin. Med. 2024, 13, 2423.

Abstract

Cornelia de Lange syndrome (CdLS) is a complex genetic disorder with a distinct set of facial features, growth limitations, and limb anomalies. Its clinical spectrum is broad and presents significant challenges in pediatric diagnosis and management. The variable presentation of the disorder, due to cohesin complex mutations, 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, with an emphasis on innovations in genetic testing, including the detection of mosaicism and novel genetic variations. The aim is to synthesise 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, and 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.

Keywords

Cornelia de Lange syndrome; pediatric genetics; phenotypic variability; cohesinopathies; rare diseases

Subject

Medicine and Pharmacology, Clinical Medicine

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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