| craniocarpotarsal dystrophy |
a congenital anomaly transmitted as an autosomal dominant trait, consisting of characteristic flattened, masklike facies; microstomia, the lips protruding as in whistling; deep-set eyes with hypertelorism; camptodactyly with ulnar deviation of the fingers; and talipes equinovarus. Called also Freeman-Sheldon syndrome, whistling face syndrome, and whistling face
출처: www.merckmedicus.com/pp/us/hcp/thcp_dorlands_conte...
|
|---|