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Article
April 1970

Picture of the Month

Author Affiliations

Boston; Montreal
From the Montreal Children's Hospital, Montreal.

Am J Dis Child. 1970;119(4):339-340. doi:10.1001/archpedi.1970.02100050341011
Abstract

Denouement and Discussion 

Cranio-carpo-tarsal Dystrophy  (Whistling Face Syndrome, Freeman-Sheldon Syndrome)

Manifestations  Major manifestations include small mouth and tongue, lips protruded as in whistling, long upper lip, a receding chin with a mound of subcutaneous tissue inferior to the lower lip demarcated by a vertical furrow on either side, small, narrow nose and nostrils, deep-set eyes, ocular hypertelorism, full cheeks, high arched palate, and flattening of the facial bones.Associated defects include ulnar deviation of the hands without boney abnormalities, bilateral equinovarus, thickening of the skin and subcutaneous tissues over the flexor surface of the first phalanx of the fingers, finger contractures, dimples on the flexor surface of the first phalanx of the fingers, finger contractures, dimples on the flexor surface of the hands, spina bifida, thoracic scohosis, and a short broad neck. Mental retardation is not present.

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