Freeman-Sheldon Syndrome: Report of Two Cases in a Family / 대한정형외과학회잡지

ABSTRACT

Freeman-Sheldon Syndrome is one of the very rare genetic diseases which primarily affects face, hands and feet. At first, Freeman and Sheldon described this syndrome as cranio-carpo-tarsal dystrophy in 1938 and later Burian, as "whistling face" syndrome in 1963. There were 60 cases of reports in the world up to now, and only one paper with 5 cases in a family was reported in Korea. The authors report 2 cases of Freeman-Sheldon Syndrome associated with bilateral inguinal hernias and undescended tests in a family, briefly review the literature and alert orthopaedic surgeons to this condition.