Freeman-Sheldon syndrome


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cra·ni·o·car·po·tar·sal dys·tro·phy

[MIM*193700]
a syndrome characterized by specific facial features with sunken eyes, hypertelorism, long philtrum, small nose, and small mouth with pursing of lips as in whistling, and skeletal malformations with ulnar deviation of hands, camptodactyly, talipes equinovarus, and frontal bone defects; autosomal dominant inheritance.

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.
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

Freeman,

Ernest A., English orthopedic surgeon, 1900-1975.
Freeman-Sheldon syndrome - Synonym(s): craniocarpotarsal dystrophy

Sheldon,

Joseph H., English pediatrician, 1920-1964.
Freeman-Sheldon syndrome - Synonym(s): craniocarpotarsal dystrophy
References in periodicals archive ?
Freeman-Sheldon syndrome (FSS) (craniocarpotarsal dysplasia or whistling face syndrome) is a rare congenital myopathic dysplasia that was first reported in 1938 (1).
Sanchez JM, Kaminker CE New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome.
Anaesthetic management of a patient with Freeman-Sheldon syndrome.
Prenatal diagnosis of Freeman-Sheldon syndrome has never been reported, although sonographic detection of face, hand, and foot deformities has been described.