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September 3, 2025Prenatal DiagnosisOpen Access

A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant

Molly Jackson Ian Suchet Kristopher D. Langdon Rati Chadha Weiming Yu Elaine S. Chan Mary Ann Thomas

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Key Points

This case reveals new associations between focal dermal hypoplasia and split hand/foot malformations.
Further, it emphasizes the importance of genetic testing in prenatal cases showing unexpected malformations.
This report highlights that lack of characteristic skin findings does not rule out significant genetic disorders.
Overall, it sheds light on the need for comprehensive evaluation in similar prenatal cases.

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Implication

Case report details split hand/foot malformations and renal agenesis in prenatal diagnosis, suggesting NOVEL genetic factors.

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Cite This Study

Jackson et al. (2025) studied this question.

synapsesocial.com/papers/68c18c169b7b07f3a06151d7 https://doi.org/10.1002/pd.6880

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

1Focal dermal hypoplasia associated with pathogenic PORCN gene variant in postzygotic, unilateral mosaic form2024
2Novel Biallelic Variants in CPOX Gene in a Case of Hereditary Coproporphyria With Antenatal Onset and Adverse Neonatal Outcome: A Potential Diagnostic Clue of Harderoporphyria?2025
3Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature ReviewCase Report · 2026
4Novel compound heterozygous POR variants in a neonate with Antley-Bixler syndrome and 46,XY DSD: a case report and literature reviewCase Report · 2026
5Fetal Phenotype and Diagnosis of Treacher Collins Syndrome Due to a Novel <i>POLR1D</i> Variant2025

More related papers

Surviving Males With <scp> <i>PORCN</i> </scp> Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum2026
Prenatal 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 Malformations2026
Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single‐Center Report2024

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