A genetic hypothesis for Chiari I malformation with or without syringomyelia

• DOI: 10.3171/foc.2000.8.3.12
• Publication Date: 2008-01-24T11:50:11Z
• Authors: Marcy C. Speer; Timothy M. George; David S. Enterline; Amy Franklin; Chantelle M. Wolpert; Thomas H. Milhorat
• Keywords: Chiari I malformation; Family aggregation; Chiari Malformation; Trait

In several reports the authors have suggested occasional familial aggregation of syringomyelia and/or Chiari 1 malformation (CM1). Familial is one characteristic traits that an underlying genetic basis. The provide evidence for CM1 and (CM1/S) in a large series families, establishing there may be component to CM1/S at least subset families. observed no cases isolated their family studies, suggesting more accurately classified as with associated syringomyelia. These data, together cosegregation trait known syndromes, support authors' hypothesis basis some cases.