Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders.

@article{Saleem2010RoleOM,
  title={Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders.},
  author={Sahar N. Saleem and Mona Saad Zaki},
  journal={AJNR. American journal of neuroradiology},
  year={2010},
  volume={31 3},
  pages={424-9}
}
BACKGROUND AND PURPOSE JSRD are rare autosomal recessive brain malformations. We hypothesized that MR imaging can assess fetuses at risk for JSRD and might influence their diagnoses. MATERIALS AND METHODS We prospectively performed cranial MR imaging for 12 fetuses (mean GA, 23 weeks; SD, 3.7) at 25% recurrence risk for JSRD. We correlated prenatal MR imaging findings with postnatal MR imaging and clinical outcome. Retrospectively, we compared posterior fossa measurements of the cases with… CONTINUE READING
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