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Article

Noonan syndrome and type 1 Chiari malformation: Possible association.

American journal of medical genetics. Part A - 1 Oct 2024

Samuels Megan, Northrup Hope

Abstract excerpt

Noonan syndrome (NS) is mostly an autosomal dominant genetic disorder that affects between 1 in 1000 and 1 in 2500 people. Type 1 Chiari malformations (CM1) have an estimated prevalence of <1 in 1000 people. Though NS typically spares the posterior fossa, there have been 11 past instances of patients with NS having a concurrent CM1 that have been published in the literature. Each of these 11 cases occurred...

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Source

Identifiers

PMID: 38847235
DOI: 10.1002/ajmg.a.63776

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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