title: Lateral meningocele syndrome: vertical transmission and expansion of the phenotype.
abstract: Lateral meningoceles were first described by Lehman et al. [(1977); J Pediatr 90: 49-54] in a patient with other skeletal findings and distinctive craniofacial features. Subsequently, six more patients with the so-called lateral meningocele syndrome (LMS) have been reported. We describe the findings in three new cases and expand the phenotype. The existence of an affected mother and daughter supports the hypothesis that LMS is a dominant disorder affecting primarily the connective tissue.
authors.affiliation: Department of Pediatrics, Division of Genetics, Stanford University, 300 Pasteur Drive, Stanford, CA 94305-5208, USA.
authors.forename: Kelly M
authors.initials: KM
authors.lastname: Chen
authors.forename: Lynne
authors.initials: L
authors.lastname: Bird
authors.forename: Pat
authors.initials: P
authors.lastname: Barnes
authors.forename: Richard
authors.initials: R
authors.lastname: Barth
authors.forename: Louanne
authors.initials: L
authors.lastname: Hudgins
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008588:Meningocele / Q000473:pathology*; D011859:Radiography; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome