A Case of Freeman-Sheldon Syndrome in Father and Son

ABSTRACT

Freeman-Sheldon syndrome is a rare syndrome first described by Freeman and Sheldon in 1938. Features of the syndrome include a characteristic facial appearance with multiple skeletal anomalies due to abnormal muscle tone. Since its first description, the syndrome has been called the Freeman-Sheldon syndrome, Windmill-Vane-Hand syndrome and Whistling-Face syndrome. The diagnosis may be made clinically during the first year of life. The majority of reported cases of Freeman-Sheldon syndrome are autosomal dominantly inherited but a clinically indistinguishable autosomal recessive type has been reported. We experienced a case of Freeman-Sheldon syndrome in a newborn who presented with prominent supraorbital ridge, sunken eyes, telecanthus, short nose, long philtrum, and marked microstomia. The neck was short. The hands showed symmetrically clenched fingers with camptodactyly and feet demonstrated bilateral talipes equinovarus. His father has a slight microstomia and contractures of both fingers.