Legg-Calve-Perthes disease (LCPD) is a type of avascular necrosis of the femoral head occurring mainly in male children and causing early osteoarthritis. We report 2 generations of 4 male family members with LCPD-like features and mutation of the COL2A1 gene of the 12q13 chromosome. If LCPD occurs in any family member, we recommend genetic analysis and counselling as well as early radiological screening of related children.
AlpaslanAMAksoyMCYaziciM. Interruption of the blood supply of the femoral head: An experimental study on the pathogenesis of Legg-Calve-Perthes Disease. Arch Orthop Trauma Surg2007;127:485–91.
2.
GriffithsHEWitherowPJ. Perthes' disease and multiple epiphyseal dysplasia. Postgrad Med J1977;53:464–72.
3.
CaffeyJ. Pediatric X-ray diagnosis. Chicago: Yearbook Medical Publishers; 1978:1372–5.
4.
FarajAANevelosAB. Ethnic factors in Perthes disease: A retrospective study among white and Asian population living in the same environment. Acta Orthop Belg2000;66:255–8.
5.
GrayIMLowryRBRenwickDH. Incidence and genetics of Legg-Perthes disease (osteochondritis deformans) in British Columbia: Evidence of polygenic determination. J Med Genet1972;9:197–202.
6.
WiigOTerjesenTSvenningsenSLieSA. The epidemiology and aetiology of Perthes' disease in Norway. A nationwide study of 425 patients. J Bone Joint Surg Br2006;88:1217–23.
7.
HallAJMargettsBMBarkerDJWalshHPRedfernTRTaylorJF. Low blood manganese levels in Liverpool children with Perthes' disease. Paediatr Perinat Epidemiol1989;3:131–5.
8.
KealeyWDMooreAJCookSCosgroveAP. Deprivation, urbanisation and Perthes' disease in Northern Ireland. J Bone Joint Surg Br2000;82:167–71.
9.
GlueckCJCrawfordARoyDFreibergRGlueckHStroopD. Association of antithrombotic factor deficiencies and hypofibrinolysis with Legg-Perthes disease. J Bone Joint Surg Am1996;78:3–13.
10.
GoffCW. Legg-Calve-Perthes syndrome (LCPS). An up-to-date critical review. Clin Orthop1962;22:93–107.
11.
MiyamotoYMatsudaTKitohHHagaNOhashiHNishimuraG. A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family. Hum Genet2007;121:625–9.
12.
KannuPIrvingMAftimosSSavarirayanR. Two novel COL2A1 mutations associated with a Legg-Calve-Perthes diseaselike presentation. Clin Orthop Relat Res2011;469:1785–90.
13.
KenetGEzraEWientroubSSteinbergDMRosenbergNWaldmanD. Perthes' disease and the search for genetic associations: Collagen mutations, Gaucher's disease and thrombophilia. J Bone Joint Surg Br2008;90:1507–11.
14.
HarelLKornreichLAshkenaziSRachmelAKarmazynBAmirJ. Meyer dysplasia in the differential diagnosis of hip disease in young children. Arch Pediatr Adolesc Med1999;153:942–5.
15.
VosmaerAPereiraRRKoendermanJSRosendaalFRCannegieterSC. Coagulation abnormalities in Legg-Calve-Perthes disease. J Bone Joint Surg Am2010;92:121–8.