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November 17, 2025Prenatal DiagnosisOpen Access

Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2B

Francesca Romana Lepri Ludovico Graziani Lucia Menale Milena Viggiano Roberta Bucci Angela Gentile Leonardo Caforio Antonio Novelli

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Lepri et al. (2025) studied this question.

synapsesocial.com/papers/692509f6c0ce034ddc352e41 https://doi.org/10.1002/pd.70024

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

1Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia2024 · 2 citations
2Early Second Trimester Diagnosis of Bardet‐Biedel in a Fetus With a Novel In‐Frame Deletion Variant in <i>BBS12</i> Gene: The Phenotype Informs the Genotype2025
3Prenatal Phenotype of a Heterozygous de Novo Missense <i>COL4A1</i> Variant in a Fetus With Pleural Effusion, Ascites, Increased Placental Thickness, Decreased Amniotic Fluid, and Cerebral Structural MalformationsOriginal Research · 2026
4Expanding the Prenatal Phenotype of Lethal Congenital Contracture Syndrome 11: Novel Homozygous <i>GLDN</i> Variant in a Family With Recurrent Affected FetusesOriginal Research · 2026
5Fetus with multiple congenital anomaly syndrome caused by novel variant in <i>ATP1A2</i>2024 · 1 citations

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Novel Compound Heterozygous Variants in the <scp> <i>COG5</i> </scp> Gene Causing Fetal Hydrops and Skeletal Dysplasia2026
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