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

单词	whistling face syndrome
释义	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
随便看	wind side wind signal wind slab wind sleeve winds, local winds me up winds, mountain and valley wind sock windsock windsock deformity wind socks windsocks winds of change windsole wind (someone) around (one's) (little) finger wind (someone) round (one's) (little) finger winds one up windsor windsor agreement of 1899 windsor and maidenhead windsor bean windsor cap windsor castle windsor chair windsor chairs