Legg-Perthes disease in three siblings, two heterozygous and one homozygous for the factor V Leiden mutation.
A family is described with three-generation transmission of factor V Leiden (a thrombophilic mutation that causes resistance to activated protein C). Legg-Perthes disease developed in three siblings in this family. The male proband and his sister were heterozygous for the mutation and had unilateral hip disease at age 2 years. The brother, who had bilateral hip disease, was homozygous. This novel family provides compelling evidence for the pathoetiologic role of familial thrombophilia in Legg-Perthes disease.
Gruppo
R
R
Division of Hematology/Oncology, Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
Glueck
C J
CJ
Wall
E
E
Roy
D
D
Wang
P
P
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007873:Legg-Calve-Perthes Disease / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011486:Protein C / Q000235:genetics; D011859:Radiography
D011486:Protein C; D005165:Factor V