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"Contracture of Facial Muscles - Whistling Face Syndrome"

This inherited autosomal dominant gene mutation is a cause of a myopathy of facial muscles (and in other sites). The myopathy is active during fetal life and evolves toward fibrosis - contractures of facial muscles of expression (and other muscles). The result is a characteristic "whistling facies" - the contractures of the buccinator (whistling) and the sphincter-like orbicularis oris (puckered lips) are characteristic.

Signal: in combination of a family history of an affected father, siblings and other relatives, the facial and digital contractures (not shown here) suggest the diagnosis of Freeman Sheldon or Whistling Face syndrome. 

Comment: This illustration demonstrates the power, significance and value of "facies recognition" - in this instance, one teenager male perished from obstructive cardio-myopathy thus the understanding of the scope of this genetic disorder has expanded significantly to demand attention to cardiac functions. (Observed by Dr. W. Wertelecki, M.D.) 


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