Abstract

AIM : To write a review on Freeman-Sheldon Syndrome OBJECTIVE: To explore the features, etiology and treatments related to this syndrome BACKGROUND: Freeman-Sheldon syndrome is a condition that affects the face, limbs and feet. Individual with this disorder have a distinctive facial appearance including a small mouth and mandible with a pursed lips, giving the appearance of ‘whistling face’. It is likely caused by mutations in in genes that encode fast twitch skeletal muscle isoforms of troponin I (TNNI2) and troponin T (TNNT3) and embryonic myosin (MYH3)

Full Text
Published version (Free)

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call