Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari type I malformation.

ABSTRACT: Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the base of the skull. Although cerebellar tonsillar herniation (CTH) is hypothesized to result from an underdeveloped posterior cranial fossa (PF), patients are frequently diagnosed by the extent of CTH without cranial morphometric assessment. We recently completed the largest CMI whole genome qualitative linkage screen to date. Despite an initial lack of statistical evidence, stratified analyses using clinical criteria to reduce heterogeneity resulted in a striking increase in evidence for linkage. The present study focused on the use of cranial base morphometrics to further dissect this heterogeneity and increase power to identify disease genes. We characterized the genetic contribution for

SUBMITTER: Markunas CA 

PROVIDER: S-EPMC4041368 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature