Lateral meningocele syndrome: vertical transmission and expansion of the phenotype.
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.
Chen
Kelly M
KM
Department of Pediatrics, Division of Genetics, Stanford University, 300 Pasteur Drive, Stanford, CA 94305-5208, USA.
Bird
Lynne
L
Barnes
Pat
P
Barth
Richard
R
Hudgins
Louanne
L
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