|
|
Purpose : Joubert syndrome is known tobean autosomal recessive disorder characterized
by cerebellar vermian dysgenesis with many symptoms and variety of other
malformations. We studied the relevant symptoms and various malformations of seven
patients diagnosed as Joubert syndrome at our institution.
Methods : Seven children with cerebellarvermian dysgenesis consistent with Joubert
syndrome were included in ourstudy. Each child was diagnosed at the Seoul National
University Children's... |
