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August 30, 2025Prenatal DiagnosisOpen Access

Antenatal Pulmonary Hypoplasia Expands the Variety of Phenotypes Associated With MED12‐Related Disorders

Vijaya Ramachandran Natalie Chandler Alexander Gibbs Elspeth Whitby R. Braham Christopher Joseph Sarju Mehta

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Key Points

Antenatal pulmonary hypoplasia is now recognized as a phenotype in MED12-related disorders, expanding clinical understanding.
Previous studies focused primarily on genetic and developmental disorders, but this study highlights the role of pulmonary conditions.
The findings are based on clinical data from diverse patient cases, which enhances the understanding of MED12-related syndromes.
This research may enable more precise diagnoses and management strategies for affected individuals with variable phenotypes.

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Implication

Observational analysis reveals diverse phenotypes in antenatal pulmonary hypoplasia, suggesting broader implications.

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Cite This Study

Ramachandran et al. (2025) studied this question.

synapsesocial.com/papers/68c1dd9b54b1d3bfb60fc428 https://doi.org/10.1002/pd.6881

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Prenatal Phenotype of Common Arterial Trunk With Tricuspid Atresia and Bilateral Cleft Lip‐Palate With Novel MASP1 VariantOriginal Research · 2026
2Expansion of the Phenotypic and Genotypic Spectrum of <scp>MED13L</scp> ‐Associated Neurodevelopmental Disorder: A Case Report and Literature ReviewCase Report · 2026
3Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo <i>BICD2</i> Variant: Expanding the Prenatal Phenotype of SMALED2B2025
4Pulmonary HypoplasiaOriginal Research · 2026
5<i>MED12</i> Loss‐of‐Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability2024 · 7 citations

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