Myhre Syndrome Associated With Dunbar Syndrome and Urinary Tract Abnormalities: A Case Report

Myhre syndrome is a rare condition caused by a mutation in the SMAD4 gene, which leads to a defective TGF-/BMP signaling, resulting in the proliferation of abnormal fibrous tissues. Clinically, patients with Myhre syndrome manifest with defects of connective tissue (skin, muscles, joints), and cardiovascular and neurological impairment.