Freeman-Sheldon Syndrome: Report of Two Cases in a Family
10.4055/jkoa.1996.31.4.937
- Author:
Jae In AHN
;
Byoung Suck KIM
;
Yeong Seong KIM
;
Jeong HONG
- Publication Type:Case Report
- Keywords:
Freeman-Sheldon Syndrome;
Inguinal hernia;
Undescended testis
- MeSH:
Cryptorchidism;
Foot;
Hand;
Hernia, Inguinal;
Humans;
Korea;
Male;
Surgeons
- From:The Journal of the Korean Orthopaedic Association
1996;31(4):937-941
- CountryRepublic of Korea
- Language:Korean
-
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.
