{
    "abstract": "Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder that exhibits etiologic genomic imprinting characterized by molecular heterogeneity and phenotypic variability. Associations with localized developmental dysplastic chondromatous lesions and cortical neuronal heterotopias have not previously been described.\nA 33-week gestational age female had an omphalocele and intractable hypoglycemia at birth. The placenta demonstrated placental mesenchymal dysplasia. Detection of hypermethylation of IC1 and hypomethylation of IC2 confirmed Beckwith-Wiedemann syndrome, most likely due to uniparental disomy. Additional findings included right mid-tibial and right 5-8th developmental dysplastic chondromatous lesions, absent corpus callosum and numerous right-sided cortical neuronal heterotopias, right hemihypertrophy, multiple cystic hepatic mesenchymal hamartomas and hepatic infantile hemangiomas, nisidioblastosis and cystic pancreatic lesions. The infant died with multi-organ failure and anasarca at 7 weeks of life.\nBeckwith-Wiedemann syndrome anomalies may include multifocal developmental dysplastic chondromatous lesions and cerebral neuronal heterotopias, lateralized, and corpus callosum aplasia.",
    "authors": [
        {
            "affiliation": "Department of Pathology, New Orleans Children's Hospital, LA State University Health Science Center and Children's Hospital of New Orleans, New Orleans, LA, USA.",
            "firstname": "Stephanie",
            "initials": "S",
            "lastname": "Collier"
        },
        {
            "affiliation": "Department of Radiology, Tulane School of Medicine, Children's Hospital of New Orleans. New Orleans Children's Hospital, New Orleans, LA, USA.",
            "firstname": "Ewa M",
            "initials": "EM",
            "lastname": "Wasilewska"
        },
        {
            "affiliation": "Department of Pathology, New Orleans Children's Hospital, LA State University Health Science Center and Children's Hospital of New Orleans, New Orleans, LA, USA.",
            "firstname": "Randall",
            "initials": "R",
            "lastname": "Craver"
        }
    ],
    "conclusions": "Beckwith-Wiedemann syndrome anomalies may include multifocal developmental dysplastic chondromatous lesions and cerebral neuronal heterotopias, lateralized, and corpus callosum aplasia.",
    "copyrights": null,
    "doi": "10.1080/15513815.2024.2337639",
    "journal": "Fetal and pediatric pathology",
    "keywords": [
        "Beckwith-Wiedemann syndrome",
        "multifocal developmental chondrodysplasia",
        "neuronal heterotopias"
    ],
    "methods": null,
    "publication_date": "2024-04-08",
    "pubmed_id": "38587479",
    "results": null,
    "title": "Novel Autopsy Findings in Premature Infant With Beckwith-Wiedemann Syndrome Uniparental Disomy: Multifocal Developmental Dysplastic Chrondromatous Lesions and Cortical Neuronal Heterotopias.",
    "xml": "<Element 'PubmedArticle' at 0x7885044c4860>"
}