{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T08:38:37Z","timestamp":1792658317874,"version":"4.5.0"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T00:00:00Z","timestamp":1696550400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T00:00:00Z","timestamp":1696550400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We report on a female neonate with a clinico\u2010radiological presentation in keeping with a lethal form of prenatal Caffey disease (PCH). She had antenatal and postnatal features of severely bowed long bones, small chest, diaphyseal hyperostosis and polyhydramnios and died shortly after birth. Initial testing excluded\n                    <jats:italic>COL1A1<\/jats:italic>\n                    \u2010related PCH, as an OI gene panel, consisting of\n                    <jats:italic>COL1A1, COL1A2, CRTAP<\/jats:italic>\n                    , and\n                    <jats:italic>P3H1<\/jats:italic>\n                    genes, was negative. Targeted sequencing using a gene panel was performed and a\n                    <jats:italic>de novo<\/jats:italic>\n                    heterozygous, likely pathogenic variant in\n                    <jats:italic>IFITM5<\/jats:italic>\n                    : c.119C\u2009&gt;\u2009T(p.Ser40Leu) was identified, which was previously described to cause a severe form of progressively deforming osteogenesis imperfect (OI). To our knowledge, variants in\n                    <jats:italic>IFITM5<\/jats:italic>\n                    have not been reported in infantile Caffey disease (ICH) or PCH. Given that the pathogenesis of PCH is largely unknown, we postulate that a subset of PCH may be associated with variants in\n                    <jats:italic>IFITM5<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63420","type":"journal-article","created":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T03:29:20Z","timestamp":1696562960000},"page":"358-362","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The\n                    <i>IFITM5<\/i>\n                    Ser40Leu variant can manifest as prenatal Caffey disease"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2912-4448","authenticated-orcid":false,"given":"Jia Ying Celeste","family":"Yap","sequence":"first","affiliation":[{"name":"Nephrology Service, Department of Pediatrics KK Women's and Children's Hospital  Singapore Singapore"},{"name":"Pediatric Academic Clinical Programme Duke\u2010NUS Medical School  Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiin Ying","family":"Lim","sequence":"additional","affiliation":[{"name":"Pediatric Academic Clinical Programme Duke\u2010NUS Medical School  Singapore Singapore"},{"name":"Genetics Service, Department of Pediatrics KK Women's and Children's Hospital  Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anju","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Medicine KK Women's and Children's Hospital  Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vic Khi June","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Medicine KK Women's and Children's Hospital  Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Koo","sequence":"additional","affiliation":[{"name":"Pediatric Academic Clinical Programme Duke\u2010NUS Medical School  Singapore Singapore"},{"name":"KK Research Centre, KK Women's and Children's Hospital  Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Radiology Musashino\u2010Yowakai Hospital  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4463-3067","authenticated-orcid":false,"given":"Shahida","family":"Moosa","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health Sciences, Division of Molecular Biology and Human Genetics Stellenbosch University  Cape Town South Africa"},{"name":"Department of Medical Genetics Tygerberg Hospital  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4514-6869","authenticated-orcid":false,"given":"Ai Ling","family":"Koh","sequence":"additional","affiliation":[{"name":"Pediatric Academic Clinical Programme Duke\u2010NUS Medical School  Singapore Singapore"},{"name":"Genetics Service, Department of Pediatrics KK Women's and Children's Hospital  Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5497-6058","authenticated-orcid":false,"given":"Ene Choo","family":"Tan","sequence":"additional","affiliation":[{"name":"Pediatric Academic Clinical Programme Duke\u2010NUS Medical School  Singapore Singapore"},{"name":"Department of Maternal\u2010Fetal Medicine KK Women's and Children's Hospital  Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikki","family":"Fong","sequence":"additional","affiliation":[{"name":"Pediatric Academic Clinical 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