{
    "abstract": "We report a 28-year-old 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 9-10\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 (<\u20092%). Findings were concerning for life limiting condition with thoracic circumference <\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 SEC24D, 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-carpenter 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.",
    "authors": [
        {
            "affiliation": "The Children's Hospital of Philadelphia, Department of Pediatrics, Individualized Medical Genetics Center, Philadelphia, Pennsylvania, USA.",
            "firstname": "Natalie",
            "initials": "N",
            "lastname": "Burrill"
        },
        {
            "affiliation": "Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.\nDepartment of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.",
            "firstname": "Christina Paidas",
            "initials": "CP",
            "lastname": "Teefey"
        },
        {
            "affiliation": "Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.",
            "firstname": "Renee",
            "initials": "R",
            "lastname": "Wright"
        },
        {
            "affiliation": "Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.\nDepartment of Clinical Radiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.",
            "firstname": "Minh-Huy",
            "initials": "MH",
            "lastname": "Huynh"
        },
        {
            "affiliation": "Children's Hospital of Philadelphia, Department of Pediatrics, Undiagnosed Disease Network, Philadelphia, Pennsylvania, USA.",
            "firstname": "Erica",
            "initials": "E",
            "lastname": "Schindewolf"
        },
        {
            "affiliation": "Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.",
            "firstname": "Lisa",
            "initials": "L",
            "lastname": "Pilchman"
        },
        {
            "affiliation": "Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.",
            "firstname": "Haley",
            "initials": "H",
            "lastname": "Crane"
        },
        {
            "affiliation": "GeneDx, Gaithersburg, Maryland, USA.",
            "firstname": "Amanda G",
            "initials": "AG",
            "lastname": "Noyes"
        },
        {
            "affiliation": "Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.",
            "firstname": "Amanda",
            "initials": "A",
            "lastname": "Roman"
        },
        {
            "affiliation": "Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.",
            "firstname": "Moti",
            "initials": "M",
            "lastname": "Gulersen"
        },
        {
            "affiliation": "Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.\nDepartment of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.",
            "firstname": "Julie S",
            "initials": "JS",
            "lastname": "Moldenhauer"
        }
    ],
    "conclusions": null,
    "copyrights": "\u00a9 2025 Wiley Periodicals LLC.",
    "doi": "10.1002/ajmg.a.63988",
    "journal": "American journal of medical genetics. Part A",
    "keywords": [
        "SEC24D",
        "cole\u2010carpenter syndrome type 2",
        "exome sequencing",
        "osteogenesis imperfecta",
        "perinatal life\u2010limiting",
        "prenatal diagnosis"
    ],
    "methods": null,
    "publication_date": "2025-01-09",
    "pubmed_id": "39780448",
    "results": null,
    "title": "Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.",
    "xml": "<Element 'PubmedArticle' at 0x788504fc92b0>"
}