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Freeman-Sheldon Syndrome

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Freeman-Sheldon syndrome
[frē′mən shel′dən]
Etymology: Ernest Arthur Freeman, British orthopedic surgeon, 1900-1975; Joseph Harold Sheldon, British physician, 1920-1964
a congenital anomaly, transmitted as an autosomal-dominant trait, consisting of characteristic flattened, masklike facies; small mouth, the lips protruding as in whistling; deep-set eyes with hypertelorism; camptodactyly with ulnar drift of the fingers; and clubfoot. Also called craniocarpotarsal dystrophy, whistling face syndrome, whistling face-windmill vane hand syndrome.

Whistling Face
An autosomal dominant [MIM 193700] or less commonly, or autosomal recessive [MIM 277720] condition with atypical mask-like facies—small ‘pursed’ lips, deep-set/sunken eyes, epicanthus, hypoplastic nasal alae, blepharophimosis,strabismus, patientosis—accompanied by failure to thrive, normal IQ, short stature, scoliosis, camptodactyly with ulnar deviation—‘windmill hands’—talipes equinovarus or clubfoot


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From the DNA of the four people with Freeman-Sheldon syndrome, the researchers were able to pinpoint the causal genetic variant by applying a multi-step systematic strategy to filter out common variants and variants that were specific to each individual.
11) LMA has been used in patients with various pediatric syndromes, including craniodiaphyseal dysplasia, the mucopolysaccharidoses, Freeman-Sheldon syndrome, Hurler's syndrome, and Cockayne's syndrome.
The infant, Amy, was just 12 weeks old in 1997 when she was hit by the rare Freeman-Sheldon syndrome which affects muscles, causing eating problems and then death.
 
 
 
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