Chiari malformation type I

This study looked at 250 people with Chiari malformation type I and syringomyelia to compare two surgical approaches: one that opens the covering of the brain and spinal cord, and another that also removes or shrinks the tonsils at the base of the brain. The goal was to see which…

This study followed 180 adults with syringomyelia, a condition where a cyst forms in the spinal cord, for up to 5 years. Researchers tracked symptoms, muscle strength, and MRI scans to learn how the disease progresses and how surgery affects outcomes. The goal was to gather knowl…

This study looked at the genetics of Chiari I malformation, a condition where part of the brain pushes into the spinal canal. Researchers analyzed DNA and family histories from 152 participants to find genes that may cause the malformation. The goal was to better understand why i…

This completed study looked for genetic causes of Chiari type I malformation, a condition where part of the brain pushes into the spinal canal. Researchers took blood samples from 40 people with the condition and their relatives to analyze their DNA. The goal was to find specific…

This study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…

This study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…