{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T04:03:39Z","timestamp":1792037019821,"version":"4.4.0"},"reference-count":30,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T00:00:00Z","timestamp":1739836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:p>\n                    We report a case of multiple suture craniosynostosis in a patient with hypochondroplasia. The patient presented with short stature marked by a relatively long trunk and short extremities. The clinical and radiological findings were suggestive of hypochondroplasia. Additionally, craniosynostosis was identified during the evaluation, which is an unusual finding in hypochondroplasia. To further investigate, exome sequencing was performed, revealing previously reported pathogenic heterozygous variants in\n                    <jats:italic toggle=\"yes\">FGFR3<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">ERF<\/jats:italic>\n                    genes. Exome sequencing not only enhances the accuracy of diagnosing individual cases of genetic skeletal disorders but also contributes to the collective knowledge base, advancing future research in the field.\n                  <\/jats:p>","DOI":"10.1177\/10556656251319644","type":"journal-article","created":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T00:49:31Z","timestamp":1739926171000},"page":"887-894","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report"],"prefix":"10.1177","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-6889-2079","authenticated-orcid":false,"given":"Gozel","family":"Jumayeva","sequence":"first","affiliation":[{"name":"Hacettepe University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merve","family":"So\u011fukp\u0131nar","sequence":"additional","affiliation":[{"name":"Hacettepe University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beren","family":"Karaosmano\u011flu","sequence":"additional","affiliation":[{"name":"Hacettepe University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9928-3236","authenticated-orcid":false,"given":"Gizem","family":"\u00dcrel-Demir","sequence":"additional","affiliation":[{"name":"Hacettepe University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rah\u015fan","family":"G\u00f6\u00e7men","sequence":"additional","affiliation":[{"name":"Hacettepe University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fclen Eda","family":"Utine","sequence":"additional","affiliation":[{"name":"Hacettepe University Faculty of Medicine"},{"name":"Hacettepe University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pelin \u00d6zlem","family":"\u015eimsek-Kiper","sequence":"additional","affiliation":[{"name":"Hacettepe University Faculty of Medicine"},{"name":"Hacettepe University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,2,18]]},"reference":[{"key":"e_1_3_2_2_2","volume-title":"GeneReviews((R))","author":"Bober MB","unstructured":"Bober MB, Bellus GA, Nikkel SM, Tiller GE, . Hypochondroplasia. In: Adam MP, Feldman J, Mirzaa GM, eds. GeneReviews((R)). Seattle, WA: University of Washington, Seattle; 1993-2025:1-22 [Updated 2020 May 7]."},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63132"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780190626655.001.0001"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10171"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30974"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35642"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000542"},{"issue":"12","key":"e_1_3_2_9_2","article-title":"Syndromic craniosynostosis: a comprehensive review","volume":"15","author":"Katouni K","year":"2023","unstructured":"Katouni K, Nikolaou A, Mariolis T, Protogerou V, Chrysikos D, Theofilopoulou S, Filippou D. Syndromic craniosynostosis: a comprehensive review. 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