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Article

Myhre syndrome: expanding its paediatric phenotypic spectrum.

Cardiology in the young - 1 Nov 2023

Brunet-Garcia Laia, Prada Martínez Fredy Hermógenes, Carretero Bellon Juan Manuel

Abstract excerpt

Myhre syndrome is a rare disease secondary to pathogenic variants in SMAD4 gene. It is a multisystem disease characterised by short stature, deafness, joint stiffness, craniofacial dysmorphism, and potential cardiac manifestations. Herein, we report two new paediatric cases of Myhre syndrome who, additionally, presented with mid-aortic syndrome. This confirms and extends the scarce reports describing the...

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PMID: 37325812
DOI: 10.1017/S1047951123001592

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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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