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Article

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Prenatal diagnosis - 1 Sept 2026

Liebmann Alexandra, Richter Tanja, Krstić Nevena, Hoopmann Markus, Kagan Karl Oliver, Menig-Benzig Lena-Sophie, Olivieri Simone, Riess Olaf, Dufke Andreas

Abstract excerpt

OBJECTIVE: To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses with biallelic pathogenic RNU4ATAC variants linked to microcephalic osteodysplastic primordial dwarfism type I (MOPD1). METHODS: This retrospective case series includes five prenatal cases with MOPD1. Diagnoses were established by prenatal ultrasound and genetic testing. Genome sequencing (GS) or targeted...

Read the complete abstract on PubMed

Topics

Humans
Female
Microcephaly
Dwarfism
Pregnancy
Osteochondrodysplasias

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Retrospective Studies

RNA, Small Nuclear

Ultrasonography, Prenatal

Fetal Growth Retardation

Phenotype

Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 42598898
DOI: 10.1002/pd.70240
PMCID: PMC13571799

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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