Camptodactyly is an autosomal dominant trait occurring in less than 1% of the population. We have studied an involved kindred of 71 persons through seven generations. Penetrance was variable and involvement of the right hand predominated. Prevalence rate decreased with succeeding generations, suggesting "genetic dilution" of a necessary modifier gene. Association with radio-ulnar synostosis was found in two sons of sisters, but orthopedic or biochemical associations were not confirmed, and linkage with peptic ulcer was disestablished.
Littman A, Yates JW, Treger A. Camptodactyly: A Kindred Study. JAMA. 1968;206(7):1565–1567. doi:10.1001/jama.1968.03150070103025
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