Prenatal Spectrum of COL2A1-Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports
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The authors aim to review the prenatal findings associated with COL2A1-related spondyloepiphyseal dysplasia congenita (SEDC) by analyzing existing literature and presenting two additional case reports. They found that while prenatal imaging can identify various skeletal anomalies, there is no reliable genotype-phenotype correlation to predict severity or outcomes, highlighting the need for comprehensive diagnostic strategies that combine imaging and molecular testing. Ultimately, the study emphasizes the nonspecific nature of prenatal manifestations, which complicates diagnosis without molecular confirmation or family history.
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