{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T00:00:25Z","timestamp":1770336025481,"version":"3.49.0"},"reference-count":0,"publisher":"Discover STM Publishing Ltd.","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/sudanjp.com\/\/?sec=licenseinfo"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sudan J Paed"],"abstract":"<jats:p>Homozygous achondroplasia, due to biallelic pathogenic FGFR3 variants, is the homozygous lethal expression of an autosomal dominant skeletal dysplasia and is clinically distinct from the classical heterozygous form. We describe a male infant born to two achondroplastic heterozygous parents with severe rhizomelic shortening and radiographic features typical of homozygous achondroplasia. Molecular analysis revealed a homozygous c.1138G&amp;gt;A (p.Gly380Arg) variant in FGFR3. The infant developed progressive respiratory compromise and died at 63 days of age due to pulmonary hypoplasia-related respiratory failure.<\/jats:p>","DOI":"10.24911\/sjp.106-1759127221","type":"journal-article","created":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T23:28:22Z","timestamp":1769038102000},"page":"148-151","source":"Crossref","is-referenced-by-count":0,"title":["A homozygous variant in FGFR3 causing lethal Skeletal Dysplasia"],"prefix":"10.24911","author":[{"given":"Zuhair","family":"Rahbeeni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamdan","family":"Al-Shahrani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Noon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarar","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10538","published-online":{"date-parts":[[2025]]},"container-title":["Sudanese Journal of Paediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.ejmanager.com\/fulltextpdf.php?mno=287139","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T11:28:56Z","timestamp":1770290936000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejmanager.com\/fulltextpdf.php?mno=287139"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":0,"URL":"https:\/\/doi.org\/10.24911\/sjp.106-1759127221","relation":{},"ISSN":["0256-4408"],"issn-type":[{"value":"0256-4408","type":"print"}],"subject":[],"published":{"date-parts":[[2025]]}}}