{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T20:39:09Z","timestamp":1773693549771,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,3,2]],"date-time":"2022-03-02T00:00:00Z","timestamp":1646179200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Craniosynostosis is the result of the early fusion of cranial sutures. Syndromic craniosynostosis includes but not limited by Crouzon syndrome and Pfeiffer syndrome. Considerable phenotypic overlap exists among these syndromes and mutations in <jats:italic>FGFR2<\/jats:italic> may cause different syndromes. This study aims to investigate the explanation of the phenotypic variability via clinical and genetic evaluation for eight patients in a large pedigree.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>For each patient, comprehensive physical examination, cranial plain CT scan with three\u2010dimensional CT reconstruction (3D\u2010CT), and eye examinations were conducted. Whole exome sequencing was applied for genetic diagnosis of the proband. Variants were analyzed and interpreted following the ACMG\/AMP guidelines. Sanger sequencing was performed to reveal genotypes of all the family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A pathogenic variant in the <jats:italic>FGFR2<\/jats:italic> gene, c.833G\u00a0&gt;\u00a0T (p.C278F), was identified and proved to be co\u2010segregate with the disease. Some symptoms of head, hearing, vision, mouth, teeth expressed differently by affected individuals. Nonetheless, all the eight patients manifested core symptoms of Crouzon syndrome without abnormality in the limbs, which could exclude diagnosis of Pfeiffer syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We have established clinical and genetic diagnosis of Crouzon syndrome for eight patients in a five\u2010generation Chinese family. Variability of clinical features among these familial patients was slighter than that in previously reported sporadic cases.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1901","type":"journal-article","created":{"date-parts":[[2022,3,2]],"date-time":"2022-03-02T20:20:00Z","timestamp":1646252400000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Phenotypic variability of syndromic craniosynostosis caused by c.833G &gt; T in <i>FGFR2<\/i>: Clinical and genetic evaluation of eight patients from a five\u2010generation family"],"prefix":"10.1002","volume":"10","author":[{"given":"Xianda","family":"Wei","sequence":"first","affiliation":[{"name":"Center for Medical Genetics and Genomics The Second Affiliated Hospital of Guangxi Medical University  Nanning China"},{"name":"The Guangxi Health Commission Key Laboratory of Medical Genetics and Genomics The Second Affiliated Hospital of Guangxi Medical University  Nanning 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