Freeman-Sheldon Syndrome

A 15-month-old male child presented with feeding difficulty. The child was the only offspring, conceived and born spontaneously, after 14 years of non consanguineous marriage. There was no significant antenatal or family history of congenital anomalies. The patient had multiple admissions for evaluation of chest infection, congenital defects, and feeding difficulties. On examination, the patient had 9 kg weight. He had abnormal whistling facies including an extremely small puckered mouth; thin, pursed lips with long and well developed philtrum of upper lip, unusually prominent cheeks, and broad forehead.