Long Face Syndrome

Whistling Face Syndrome

Figure 3.55. Freeman-Sheldon syndrome ("whistling face" syndrome or cranio-car-potarsal dystrophy) is an autosomal dominant condition. Note the full forehead and mask-like facies with a small mouth giving a "whistling face" appearance. There is a broad nasal bridge with deep set eyes and blepharophimosis. The nose is small with hypoplastic alae nasi and a long philtrum. Note the H-shaped cutaneous dimpling on the chin and there may be a high palate and small tongue. These infants may have failure to thrive due to swallowing difficulties, but intelligence is in the normal range.

3.56

Figure 3.55. Freeman-Sheldon syndrome ("whistling face" syndrome or cranio-car-potarsal dystrophy) is an autosomal dominant condition. Note the full forehead and mask-like facies with a small mouth giving a "whistling face" appearance. There is a broad nasal bridge with deep set eyes and blepharophimosis. The nose is small with hypoplastic alae nasi and a long philtrum. Note the H-shaped cutaneous dimpling on the chin and there may be a high palate and small tongue. These infants may have failure to thrive due to swallowing difficulties, but intelligence is in the normal range.

Figure 3.56. The upper extremity of the same infant with the Freeman-Sheldon syndrome. Note the ulnar deviation of the hand and contracted fingers.

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