Whistling Face


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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
References in periodicals archive ?
[20] Tso-Ren Wang and Shio-Jean Lin, "Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family," American Journal of Medical Genetics, vol.
Washington, "Freeman-Sheldon (whistling face) syndrome: anaesthetic and airway management," Paediatric Anaesthesia, vol.
Contractions of the facial musculature and other soft tissues cause the patient to have a mask-like facies with circumoral fibrosis and microstomia ('whistling face').