Myhre syndrome: expanding its paediatric phenotypic spectrum

Myhre syndrome is a rare disease secondary to pathogenic variants in 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, addition...

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Bibliographic Details
Published in:Cardiology in the young 2023-11, Vol.33 (11), p.1-2410
Main Authors: Brunet-Garcia, Laia, Prada Martínez, Fredy Hermógenes, Carretero Bellon, Juan Manuel
Format: Article
Language:English
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Summary:Myhre syndrome is a rare disease secondary to pathogenic variants in 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 association between these two entities.
ISSN:1047-9511
1467-1107
DOI:10.1017/S1047951123001592