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Some etiologic factors in Perthes' disease
Insights
Perthes' disease is not primarily genetic. Delayed skeletal maturation and environmental factors, including prenatal conditions, appear to increase risk in disadvantaged children.
Area of Science:
- Pediatrics
- Orthopedics
- Developmental Biology
Background:
- The etiology of Perthes' disease remains largely unknown.
- Research is increasingly focusing on environmental and developmental factors rather than genetics.
Purpose of the Study:
- To review genetic and environmental aspects of Perthes' disease.
- To explore potential predisposing factors and developmental sequences involved.
Main Methods:
- Literature review of genetic and environmental factors.
- Analysis of patient characteristics including birth history and socioeconomic status.
Main Results:
- No strong evidence for genetic factors in most Perthes' disease cases.
- Delayed skeletal maturation and retarded growth are present at diagnosis.
- Associated factors include breech birth, older parents, low income, and potentially prenatal environment.
Conclusions:
- Perthes' disease is likely a nongenetic developmental disorder with unknown etiology.
- Delayed maturation or intrauterine factors may predispose the femoral head to infarction.
- Undersized, disadvantaged children face a higher risk.
Abstract:
The cause of Perthes' disease remains unknown but the nature of the problem and area of research have now become more clearly defined. Genetic and environmental aspects are here reviewed, with the conclusion that there is no good evidence for genetic factors in the great majority of patients. Retarded growth and delayed skeletal maturation have been shown to be already present at the time of diagnosis of the disease. These children are more likely to have been breech births, born late in the family of older-than-average parents. A high proportion of the children come from low income homes. It seems that the study of the relevant environment must be extended back in time to include the prenatal surroundings. The question arises whether the delay in skeletal maturation (for whatever reason) itself makes the femoral head more susceptible to infarction, or whether there is a common predisposing factor during intrauterine development which effects both the rate of maturation and the femoral head itself, leading to Perthes' disease at a later age. The disorder is perhaps more one of developmental sequences than a specific disease process of the femoral head. For the moment the disease must take its place among the nongenetic developmental disorders of unknown etiology, but with the understanding that the undersized, disadvantaged child is at a greater risk than normal.