Developmental dysplasia of the hip: a systematic literature review of the genes related with its occurrence

[摘要] Developmental dysplasia of the hip (DDH), also known by the preceding term congenital dislocation of the hip (CDH), is one of the most prevalent congenital malformations.1,2 DDH has a wide spectrum of anatomical abnormalities of the hip joint and is characterized by mild or incomplete formation of the acetabulum, leading to laxity of the joint capsule, secondary deformity of the proximal femur and irreducible hip dislocation.3 The leading cause of osteoarthritis of the hip in young individuals is undetected hip dysplasia.4 Variability in phenotypic presentation is observed in DDH-affected patients.1,5 Genetic and environmental factors are both involved in the pathogenesis of DDH.1,4 Breech presentation, oligohydramnios, female gender, large birth weight and primiparity may play a role in the occurrence of DDH.2 The condition may often affect multiple individuals in a single family through generations and a 12-fold increase of DDH among firstdegree relatives of those affected by the disorder has been noticed. A large Chinese cohort study proved that there is a high sibling recurrent risk of DDH in the Asian population, with female siblings having double the risk in comparison with male siblings.6 Several studies have reported multiple genes to be associated with DDH. This underlines the evidence of a genetic cause as the dominant factor in the development of DDH.

[学科分类] 神经科学

[关键词] developmental dysplasia of the hip;genes;congenital malformation