Legg-Calve-Perthes disease in two generations of male family members: a case report

J Orthop Surg (Hong Kong). 2013 Aug;21(2):258-61. doi: 10.1177/230949901302100230.

Abstract

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.

Keywords: Legg-Calve-Perthes disease; femur head necrosis; mutations.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Collagen Type II / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Legg-Calve-Perthes Disease / diagnostic imaging
  • Legg-Calve-Perthes Disease / genetics*
  • Male
  • Radiography

Substances

  • COL2A1 protein, human
  • Collagen Type II