{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T18:04:25Z","timestamp":1759773865966,"version":"3.41.2"},"reference-count":28,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,9,30]],"date-time":"2021-09-30T00:00:00Z","timestamp":1632960000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Purpose<\/jats:title><jats:p>Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder, and cases caused by variants in <jats:italic>SMC3<\/jats:italic> are infrequent. This article describes a case of CdLS related to a pathogenic variant in <jats:italic>SMC3<\/jats:italic> and performs a literature review.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We collected clinical data and biological samples from a 12-year-old boy with \u201cshort stature for 11 years\u201d. Gene variants in the proband were detected by whole-exome sequencing, and the variants in his parents were verified by Sanger sequencing. All <jats:italic>SMC3<\/jats:italic>-related CdLS patients from the PubMed and Web of Science databases were collected and summarized using the available data.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A pathogenic variant in <jats:italic>SMC3<\/jats:italic> in the proband, c.1942A&amp;gt;G, was identified. Neither of his parents carried the same variant. Twenty-eight patients were diagnosed with CdLS with variants in <jats:italic>SMC3<\/jats:italic>, including the cases in this study and those reported in the literature, where half of the variant types were missense, followed by 32% (9\/28) with a deletion and 11% (3\/28) with a duplication. All patients showed symptoms of verbal development delay and intellectual disability to different degrees, and 90% patients had long eyelashes while 89% patients had arched eyebrows.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study summarized different gene variants in <jats:italic>SMC3<\/jats:italic> and the frequencies of the various clinical manifestations according to the reported literature. For CdLS caused by <jats:italic>SMC3<\/jats:italic> variants, short stature and facial dysmorphic features are the two most important clinical clues. Definite diagnosis of this rare disease may be challenging clinically; thus, it is significant to use molecular diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2021.604500","type":"journal-article","created":{"date-parts":[[2021,9,30]],"date-time":"2021-09-30T22:07:38Z","timestamp":1633039658000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature 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