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Lateral meningocele syndrome: Additional report and further evidence supporting a connective tissue basis
Author(s) -
Alves Daniela,
Sampaio Mafalda,
Figueiredo Rita,
Leão Miguel
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35968
Subject(s) - connective tissue disorder , connective tissue , craniofacial , anatomy , bicuspid aortic valve , pathology , phenotype , etiology , medicine , biology , genetics , aortic valve , gene
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.