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Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. Mutation in the  NIPBL  gene accounts for nearly 60% of the cases. This study reports the clinical and genetic findings of three cases of CdLS from unrelated Chinese families. Clinically, all the three cases were classified as classic CdLS based on the cardinal (distinctive facial features and limb malformations) and suggestive (developmental delay, growth retardation, microcephaly, hirsutism, etc.) manifestations. SNP array detected a novel  de novo  heterozygous microdeletion of 0.2 Mb [arr[GRCh37]5p13.2(36848530_37052821) × 1] that spans the first 43 exons of  NIPBL  in the fetus with nuchal translucency thickening in case 1. Whole-exome sequencing in family trios plus Sanger sequencing validation identified a  de novo  heterozygous  NIPBL  c.5566G>A (p.R1856G) mutation in the fetus with intrauterine growth retardation in case 2 and a novel  de novo  heterozygous  NIPBL  c.448dupA (p.S150Kfs * 23) mutation in the proband (an 8-month-old girl) in case 3. The cases presented in this study may serve as references for increasing our understanding of the mutation spectrum of  NIPBL  in association with CdLS.

Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients