Duraisamy Balaguru

May 23, 2024 | onlinelibrary.wiley.com | Angela Lin |Eleanor Scimone |Robyn P. Thom |Duraisamy Balaguru

1 INTRODUCTION Since the first description in two unrelated male patients (Myhre et al., 1981), Myhre syndrome (MIM #139210, ORPHA #2588) has been increasingly recognized as a distinctive short stature syndrome with a recognizable facial appearance, hearing loss, and progressive abnormalities of the cardiovascular system, upper airway, lungs, skin, bones, and joints.