{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T21:47:55Z","timestamp":1773006475103,"version":"3.50.1"},"reference-count":7,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,1,8]],"date-time":"2025-01-08T00:00:00Z","timestamp":1736294400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>We report a 28\u2010year\u2010old G2P0 at 24\u2009weeks 5\u2009days who presented for evaluation secondary to suspected skeletal dysplasia in her fetus. Fetal ultrasound imaging demonstrated foreshortened long bones by 9\u201310\u2009weeks, multiple bowing deformities and fractures, 11 foreshortened paired ribs with fractures, decreased skull mineralization, frontal bossing, enlarged cavum septum pellucidi, and severe fetal growth restriction (&lt;\u20092%). Findings were concerning for life limiting condition with thoracic circumference &lt;\u20092.5%, femur length\/abdominal circumference ratio of 0.13, and the thoracic circumference\/abdominal circumference ratio of 0.77 and a palliative care path was pursued. Exome sequencing through chorionic villus sampling revealed two variants <jats:italic>SEC24D<\/jats:italic>, a maternally inherited likely pathogenic variant at c.3031_3040delinsC, and a variant of uncertain significance (VUS) at c.2676\u2009+\u20095del. These variants, along with the clinical overlap in the fetus were likely causative of a diagnosis of Cole\u2010carpenter syndrome type 2 (CLCRP2). Most publications of CLCRP2 report a fairly favorable prognosis. Concern for life limiting prenatal presentation has not been reported. We report a case of CLCRP2 that phenocopies perinatally lethal type OI and that resulted in early neonatal demise from respiratory compromise.<\/jats:p>","DOI":"10.1002\/ajmg.a.63988","type":"journal-article","created":{"date-parts":[[2025,1,9]],"date-time":"2025-01-09T06:28:38Z","timestamp":1736404118000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Phenotypic Expansion: Fetus With Cole\u2010Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia"],"prefix":"10.1002","volume":"197","author":[{"given":"Natalie","family":"Burrill","sequence":"first","affiliation":[{"name":"The Children's Hospital of Philadelphia, Department of Pediatrics Individualized Medical Genetics Center  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina Paidas","family":"Teefey","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"},{"name":"Department of Surgery Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renee","family":"Wright","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minh\u2010Huy","family":"Huynh","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"},{"name":"Department of Clinical Radiology Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erica","family":"Schindewolf","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia, Department of Pediatrics Undiagnosed Disease Network  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Pilchman","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-2645-6767","authenticated-orcid":false,"given":"Haley","family":"Crane","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda G.","family":"Noyes","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Roman","sequence":"additional","affiliation":[{"name":"Thomas Jefferson University Hospital  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moti","family":"Gulersen","sequence":"additional","affiliation":[{"name":"Thomas Jefferson University Hospital  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie S.","family":"Moldenhauer","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"},{"name":"Department of Surgery Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,1,8]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010023\u201006045\u20100"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40348\u2010020\u201000101\u20109"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.002"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12678"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.148"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40643"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198\u2010016\u20103866\u20102"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63988","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,5]],"date-time":"2025-04-05T08:12:04Z","timestamp":1743840724000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63988"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,8]]},"references-count":7,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1002\/ajmg.a.63988"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63988","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,8]]},"assertion":[{"value":"2024-11-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-08","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63988"}}