Abstract:Joubert syndrome (JS) is a genetically heterogenous disorder of nonmotile cilia with a characteristic "molar tooth sign" on axial brain imaging. Clinical features can include developmental delay, kidney failure, liver disease, and retinal dystrophy. Prospective growth and measurement data on 170 individuals with JS were collected, including parental measurements, birth measurements, and serial measures when available. Analysis of growth parameters in the context of hepatorenal disease, genotype, and other feat… Show more
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