In:
Cardiology in the Young, Cambridge University Press (CUP), Vol. 33, No. 11 ( 2023-11), p. 2408-2410
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.
Type of Medium:
Online Resource
ISSN:
1047-9511
,
1467-1107
DOI:
10.1017/S1047951123001592
Language:
English
Publisher:
Cambridge University Press (CUP)
Publication Date:
2023
detail.hit.zdb_id:
2060876-7
Permalink