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November 30, 2025International Journal of Molecular SciencesOpen Access

Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a COL2A1 Missense Mutation

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Fetal hydrops was present in a case of achondrogenesis type II, indicating severity of the condition.
3D ultrasound and postmortem imaging confirmed the diagnosis of a COL2A1 missense mutation.
Craniofacial anomalies were highlighted as key features associated with achondrogenesis type II.
Diagnosis relies on genetic testing and imaging techniques to identify this lethal disorder.

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Implication

Case report demonstrates prenatal imaging diagnosis of achondrogenesis type II with fetal hydrops and craniofacial anomalies, suggesting new diagnostic avenues.

Cite This Study

Wu et al. (2025) studied this question.

synapsesocial.com/papers/692b9d831d383f2b2a379801 https://doi.org/10.3390/ijms262311472

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Implication

Case report demonstrates prenatal imaging diagnosis of achondrogenesis type II with fetal hydrops and craniofacial anomalies, suggesting new diagnostic avenues.

Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a COL2A1 Missense Mutation

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Discussion

Implication

Cite This Study

Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a COL2A1 Missense Mutation

Key Points

Discussion

Implication

Cite This Study

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