Myhre syndrome: expanding its paediatric phenotypic spectrum

Abstract

AbstractMyhre syndrome is a rare disease secondary to pathogenic variants inSMAD4gene. 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.