Conflict of interest: none.
Lateral meningocele syndrome: Additional report and further evidence supporting a connective tissue basis
Article first published online: 21 MAY 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 7, pages 1768–1772, July 2013
How to Cite
2013. Lateral meningocele syndrome: Additional report and further evidence supporting a connective tissue basis. Am J Med Genet Part A 161A:1768–1772., , , .
Ethical Approval: A case report is not subject to ethics review. Patient privacy and confidentiality has been protected, and the parents' signed consent was obtained.
- Issue published online: 19 JUN 2013
- Article first published online: 21 MAY 2013
- Manuscript Accepted: 14 MAR 2013
- Manuscript Received: 21 AUG 2012
- lateral meningocele syndrome;
- Lehman syndrome
Lateral meningocele syndrome is a rare disorder of unknown etiology, first described in 1977 and subsequently reported in nine other patients. These patients present distinctive craniofacial features and skeletal abnormalities in addition to multiple lateral meningoceles, suggesting a connective tissue disorder. Autosomal dominant inheritance is clearly suggested in one family and could explain familiar aggregation in another. We describe a simplex case of lateral meningocele syndrome with bicuspid aortic valve, supporting the hypothesis of a connective tissue basis for this disorder and further expanding the phenotype. © 2013 Wiley Periodicals, Inc.