title: Lateral meningocele syndrome: additional report and further evidence supporting a connective tissue basis.
abstract: 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.
authors.affiliation: Department of Pediatrics, Centro Hospitalar de S. João, Porto, Portugal. desafiart@gmail.com
authors.forename: Daniela
authors.initials: D
authors.lastname: Alves
authors.forename: Mafalda
authors.initials: M
authors.lastname: Sampaio
authors.forename: Rita
authors.initials: R
authors.lastname: Figueiredo
authors.forename: Miguel
authors.initials: M
authors.lastname: Leão
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D001021:Aortic Valve / Q000002:abnormalities; D000082882:Bicuspid Aortic Valve Disease; D002675:Child, Preschool; D003238:Connective Tissue / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005260:Female; D006349:Heart Valve Diseases / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D008588:Meningocele / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D011247:Pregnancy