Abstract
BackgroundCornelia de Lange syndrome (CdLS) is a rare dominantly inherited developmental disorder with an estimated prevalence of 0.5–10:100,000 and no racial disparity in prevalence. The aim of this study was to present two unrelated Chinese CdLS individuals with mutations in NIPBL and to perform a comprehensive analysis of a Chinese cohort with CdLS.Subjects and methodsTwo unrelated Chinese patients complaining of short stature were referred to the outpatient department of Peking Union Medical College Hospital (PUMCH). Their clinical data at birth and at the most recent assessment were collected. Mutation analysis was carried out by whole exome sequencing. Twenty‐four Chinese cases with CdLS were identified through a systematic review of the literature published between 1987 and 2017.ResultsTwo patients presented with typical phenotypes, characteristic complications of CdLS and mutations in the NIPBL gene. The average age at diagnosis of the 26 Chinese cases was higher than that of other cohorts. The frequencies of characteristic manifestations of CdLS were similar with those of other populations.ConclusionsBy investigating 26 Chinese cases of CdLS, we observed that the clinical data and gene variants in the Chinese cohort of CdLS patients were generally in accordance with those of other populations.
Highlights
Cornelia de Lange syndrome (CdLS, called Brachmann-de Lange syndrome, Online Mendelian Inheritance in Man (OMIM) entries 122,470, 300,590, 300,882, 610,759 and 614,701), which was initially reported Brachmann (1916) and further characterized by de Lange (1933), is a rare genetically heterogeneous disorder affecting a wide range of Huijuan Zhu and Hui Pan are contributed to the current research paper
We systematically searched the online literature databases Pubmed, Embase, Medline, Wanfang, China National Knowledge Infrastructure (CNKI) and the Cochrane Collaboration Library for articles associated with a Chinese cohort of CdLS patients
We are the first to apply the consensus criteria of clinical phenotype in CdLS patients proposed by Kline et al in 2018 to Chinese patients with CdLS
Summary
Cornelia de Lange syndrome (CdLS, called Brachmann-de Lange syndrome, Online Mendelian Inheritance in Man (OMIM) entries 122,470, 300,590, 300,882, 610,759 and 614,701), which was initially reported Brachmann (1916) and further characterized by de Lange (1933), is a rare genetically heterogeneous disorder affecting a wide range of Huijuan Zhu and Hui Pan are contributed to the current research paper. The characteristic manifestations of CdLS include facial dysmorphia, growth retardation, psychomotor delay, abnormality of the upper limbs, major malformations (especially microcephaly and malformations of the cardiac, genital, gastrointestinal and urological systems) and medical complications (ocular defects, gastrointestinal reflux, neurosensory deafness, etc.). We present two unrelated Chinese CdLS cases. The clinical characteristics of Chinese CdLS cases published previously were summarized and compared with those of other populations
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
