title: Dentato-olivary dysplasia in sibs: an autosomal recessive disorder?
abstract: The cases of a brother and sister with dentato-olivary dysplasia are described. Both had severe developmental delay, severe epilepsy of early onset, evolving hypertonic quadriplegia, and death in early childhood. Postmortem examination of the brain in one child showed a particular form of dentato-olivary dysplasia. These children show many features in common with previously described cases of this condition, but this is the first report of occurrence in sibs.
authors.affiliation: Department of Paediatric Neurology, University Hospital, Nottingham, UK.
authors.forename: T
authors.initials: T
authors.lastname: Martland
authors.forename: B N
authors.initials: BN
authors.lastname: Harding
authors.forename: R E
authors.initials: RE
authors.lastname: Morton
authors.forename: I
authors.initials: I
authors.lastname: Young
mesh_terms: D018891:Dentate Gyrus / Q000473:pathology*; D002658:Developmental Disabilities / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006973:Hypertension / Q000235:genetics; D007223:Infant; D008297:Male; D009679:Nuclear Family