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Article

Prenatal diagnosis of non-typical Chiari malformation type I associated with de novo Nuclear Factor I A gene mutation: a case report.

Journal of medical case reports - 13 Feb 2024

Tomai Xuan-Hong, Nguyen Huu-Trung, Nguyen Thi Thanh-Truc, Nguyen Tuan-Anh, Nguyen Thuy-Vy

Abstract excerpt

BACKGROUND: Chiari malformation is one of the most common Central nervous system (CNS) abnormalities that can be detected in routine fetal scanning. Chiari malformation type I (CMI) is a congenital defect characterized by a displacement of the cerebellar tonsils through the foramen magnum. The etiology of CMI has not been well established and suggested having multifactorial contributions, especially genetic...

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Identifiers

PMID: 38347602
DOI: 10.1186/s13256-024-04361-1
PMCID: PMC10863238

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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