whistling face syndrome

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.

Synonym(s): craniocarpotarsal dysplasia, Freeman-Sheldon syndrome, whistling face 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

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References in periodicals archive ?

Sagui, "Autosomal recessive form of whistling face syndrome in sibs," American Journal of Medical Genetics, vol.

Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

Freeman-Sheldon syndrome (FSS) (craniocarpotarsal dysplasia or whistling face syndrome) is a rare congenital myopathic dysplasia that was first reported in 1938 (1).

Whistling face syndrome: general anesthesia and early postoperative caudal analgesia.

Anaesthetic management of a child with Freeman-Sheldon syndrome undergoing spinal surgery