{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T00:25:52Z","timestamp":1771028752218,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2018,7,31]],"date-time":"2018-07-31T00:00:00Z","timestamp":1532995200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005378","name":"Hacettepe University","doi-asserted-by":"publisher","award":["TAY\u20102015\u20107335"],"award-info":[{"award-number":["TAY\u20102015\u20107335"]}],"id":[{"id":"10.13039\/501100005378","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:p>Our understanding of the molecular basis of the genetic disorders of the skeleton has steadily increased, as the application of high\u2010throughput sequencing technology has expanded. One of the newcomers is Spondyloepimetaphyseal dysplasia Faden\u2010Alkuraya type. In this study, we aimed to further delineate the clinical, radiographic, and molecular findings of this entity in five affected individuals from two unrelated families. All patients have short stature, extremity deformities, facial dysmorphism and intellectual disability. The skeletal hallmarks include (a) mild spondylar dysplasia, (b) epimetaphyseal dysplasia of the long bones associated with coxa vara and genu valgum, (c) brachymesophalangy with cone\u2010shaped epiphyses, and (d) craniosynostosis. Unlike the previously reported clinical findings, all patients except one are normocephalic, and all share the clinical findings including craniosynostosis, varying degrees of intellectual disability, facial dysmorphism, and skeletal findings including pes planus, prominent heels, and pectus deformity. Interestingly one of the patients presented with a cemento\u2010ossifying fibrous lesion of the maxilla. Whole exome sequencing revealed a novel homozygous [c.377delT] [p.Ile126fs*] frameshift mutation at exon 2 in one family, while Sanger sequencing revealed a novel homozygous splice site mutation [c.516+2T&gt;A] at exon 4\/intron 4 border of <jats:italic>RSPRY1<\/jats:italic> in the other family. In conclusion; we provide further evidence that Spondyloepimetaphyseal dysplasia Faden\u2010Alkuraya type is a RSPRY1\u2010associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono\u2010brachydactyly, and craniosynostosis along with recognizable facial features and intellectual disability.<\/jats:p>","DOI":"10.1002\/ajmg.a.40427","type":"journal-article","created":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T11:37:24Z","timestamp":1533123444000},"page":"2009-2016","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Further delineation of spondyloepimetaphyseal dysplasia Faden\u2010Alkuraya type: A RSPRY1\u2010associated spondylo\u2010epi\u2010metaphyseal dysplasia with cono\u2010brachydactyly and craniosynostosis"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-7766","authenticated-orcid":false,"given":"Pelin 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