Myhre syndrome: expanding its paediatric phenotypic spectrum

Area of Science:

• Genetics
• Rare Diseases
• Pediatrics

Background:

• Myhre syndrome is a rare genetic disorder caused by pathogenic variants in the SMAD4 gene.
• It is a multisystem condition with characteristic features including short stature, hearing loss, joint stiffness, and craniofacial abnormalities.
• Cardiac involvement is a known potential manifestation of Myhre syndrome.

Purpose of the Study:

• To report two new pediatric cases of Myhre syndrome.
• To investigate the co-occurrence of mid-aortic syndrome in patients with Myhre syndrome.
• To contribute to the understanding of the association between Myhre syndrome and mid-aortic syndrome.

Main Methods:

• Clinical case reporting of two pediatric patients.
• Genetic analysis to confirm SMAD4 gene variants.
• Review of existing literature on Myhre syndrome and mid-aortic syndrome.

Main Results:

• Two pediatric patients diagnosed with Myhre syndrome were identified.
• Both cases presented with the additional diagnosis of mid-aortic syndrome.
• The findings support a connection between Myhre syndrome and mid-aortic syndrome.

Conclusions:

• The co-occurrence of Myhre syndrome and mid-aortic syndrome in pediatric patients is confirmed.
• This association, though rare, should be considered in the clinical evaluation of Myhre syndrome.
• Further research is warranted to elucidate the underlying mechanisms linking these two conditions.