LEGG-PERTHES-DISEASE IN 3 SIBLINGS, 2 HETEROZYGOUS AND ONE HOMOZYGOUSFOR THE FACTOR-V-LEIDEN MUTATION

A family is described with three-generation transmission of factor V L eiden (a thrombophilic mutation that causes resistance to activated pr otein C). Legg-Perthes disease developed in three siblings in this fam ily The male proband and his sister were heterozygous for the mutation and had unilateral hip disease at age 2 years. The brother, who had b ilateral hip disease, was homozygous. This novel family provides compe lling evidence for the pathoetiologic role of familial thrombophilia i n Legg-Perthes disease.