A genetic hypothesis for Chiari I malformation with or without syringomyelia.
In several reports the authors have suggested occasional familial aggregation of syringomyelia and/or Chiari 1 malformation (CM1). Familial aggregation is one characteristic of traits that have an underlying genetic basis. The authors provide evidence for familial aggregation of CM1 and syringomyelia (CM1/S) in a large series of families, establishing that there may be a genetic component to CM1/S in at least a subset of families. The authors observed no cases of isolated familial syringomyelia in their family studies, suggesting that familial syringomyelia is more accurately classified as familial CM1 with associated syringomyelia. These data, together with the cosegregation of the trait with known genetic syndromes, support the authors' hypothesis of a genetic basis for some CM1/S cases.
Speer
M C
MC
Center for Human Genetics, Division of Neuroradiology, Department of Surgery, Duke University Medical Center, Durham, North Carolina 27710, USA. marcy@chg.mc.duke.edu
George
T M
TM
Enterline
D S
DS
Franklin
A
A
Wolpert
C M
CM
Milhorat
T H
TH