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Myhre syndrome: expanding its paediatric phenotypic spectrum
Published online by Cambridge University Press: 16 June 2023
Abstract
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 association between these two entities.
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- © The Author(s), 2023. Published by Cambridge University Press
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