J Korean Orthop Assoc.
1996 Aug;31(4):937-941. 10.4055/jkoa.1996.31.4.937.
Freeman-Sheldon Syndrome: Report of Two Cases in a Family
- KMID: 2423691
- DOI: http://doi.org/10.4055/jkoa.1996.31.4.937
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.
