ArticlePediatric investigation2025
Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients.
Article in Pediatric investigation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients.Pediatric investigation · 2025Article
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11 authors.
Funding
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Abstract
Importance: Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by a spectrum of developmental and physical anomalies. Understanding the clinical and genetic landscape of CdLS in pediatric patients is crucial for improving diagnosis and management. Objective: To investigate the clinical and genetic characteristics of 19 pediatric patients with CdLS in China, with a focus on identifying the association between genetic variants and clinical severity. Methods: We performed whole exome sequencing on 19 patients with CdLS and compared their clinical characteristics based on the presence of null variants. Results: Among the 19 patients, 16 (84.2%) showed global developmental delays and 14 (73.7%) experienced prenatal growth retardation and short stature. Craniofacial anomalies-short noses and anteverted nares were observed in 94.7% (18/19) of patients. Small hands and/or feet were present in 16 patients, skin manifestations (hirsutism or mottled skin) in six, and hearing loss in four. Genetic testing identified 19 variants in Interpretation: This study highlights the clinical heterogeneity of CdLS and suggests a potential link between specific genetic variants and disease severity. These findings warrant further research to optimize treatments and better understand the functional impact of these genetic variants.
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