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Inventi Impact: Biomedical Engineering

Articles

  • Inventi:ebe/114467/26
    Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a COL2A1 Missense Mutation
    01-Apr-2026 Research 2026 : April-June
    Yi-Cheng Wu, Chih-Yao Chen, Guan-Yeu Chen, Ching-Hua Hsiao, Woei-Chyn Chu, Jack Yu-Jen Huang

    This case report describes a fetus with achondrogenesis type II, a severe and lethal type II collagen disorder, presenting with micrognathia and hydrops. Prenatal evaluation with 2D/3D ultrasound, followed by postmortem imaging and pathological examination, confirmed the diagnosis. Genetic testing revealed a heterozygous COL2A1 mutation (1703G>A; Gly516Ser, exon 24). The significance of this study lies in the identification of a missense mutation in COL2A1 associated with achondrogenesis type II. This report highlights that the condition may present with hydrops and craniofacial anomalies, establishing this variant as a pathogenic mutation associated with the disorder.

    How to Cite this Article
    Attribution/ CC Compliant Citation: Wu, Y.-C.; Chen, C.-Y.; Chen, G.-Y.; Hsiao, C.-H.; Chu,W.-C.; Huang, J.Y.-J. Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a COL2A1 Missense Mutation. Int. J. Mol. Sci. 2025, 26, 11472, https://doi.org/10.3390/ijms262311472 http://creativecommons.org/licenses/by/4.0/, Some formatting elements, header, footer, logos, dates and pagination were modified while adapting this article.
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