Freeman Sheldon syndrome with marked kyphoscoliosis at birth: a case report

Freeman sheldon syndrome or Whistling face syndrome is a disorder involving face and the musculoskeletal system. There are three basic abnormalities like microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers and talipes equinovarus. Other associated less specific abnormalities are short broad neck, kyphoscoliosis. Most of the features are due to increased muscle tone. Here we are presenting a newborn with multiple congenital anomaly like microstomia with pouting lips, H like dimple of the chin, hypoplastic alae nasi, plug like nostrils, short and broad neck. Bilateral talipes equinovarus, gibbus, contracture of both upper and lower limbs with ulnar deviation of the fingers of the hand was noted. On radiological evaluation kyphoscoliosis and oar blade shaped ribs arranged in centrifugal fashion was found. The patient was diagnosed as a case of Freeman Sheldon syndrome (whistling face syndrome) on the basis of minimal diagnostic criteria, unique clinical and radiological features. She received both medical and orthopaedic management and improved.