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Clinical delineation and genotype-phenotype correlation of 84 pediatric patients with Cornelia de Lange syndrome: insights from a single-center Chinese study.

European journal of pediatrics - 28 May 2026

Li Qun, Chang Guoying, Huang Yiguo, Li Xin, Yu Tingting, Ding Yu, Wang Yirou, Feng Biyun, Ying Lingwen, Chen Yao, Li Juan, Wang Xiumin

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder, which has clinical and genetic heterogeneity. This study investigated the clinical and genetic characteristics of a large cohort of CdLS in China and elucidated genotype-phenotype correlations. The clinical manifestations, laboratory tests, and genetic testing of pediatric participants from January 2011 to December 2025 were retrospectively analyzed....

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PMID: 42207311
DOI: 10.1007/s00431-026-07094-z

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