title: Lateral meningocele syndrome: three new patients and review of the literature.
abstract: One female and two male patients with multiple lateral meningoceles are presented. They do not have neurofibromatosis or Marfan syndrome and share findings with the two previously described patients with multiple lateral meningoceles. The original report by Lehman et al. [1977: J Pediatr 90:49-54] was titled "familial osteosclerosis," because osteosclerosis was present in the proposita and her mother; the patient described by Philip et al. [1995: Clin Dysmorphol 4:347-351] also had increased bone density of the skull base and the sutures. Thickened calvaria were present in one of our patients; two had a prominent metopic suture. Other shared findings include multiple lateral meningoceles, Wormian bones, malar hypoplasia, downslanted palpebral fissures, a high narrow palate, and cryptorchidism in males. In addition, our patients showed ligamentous laxity, keloid formation, hypotonia, and developmental delay. A short umbilical cord was noted in two patients. One had a hypoplastic posterior arch of the atlas and an enlarged sella, as reported by Lehman et al. [1977]. Our patients appear to have the same syndrome as previously reported. We suggest it be called "lateral meningocele syndrome," because of this unique finding.
authors.affiliation: Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Pennsylvania 19104-4399, USA.
authors.forename: K W
authors.initials: KW
authors.lastname: Gripp
authors.forename: C I
authors.initials: CI
authors.lastname: Scott
authors.forename: H E
authors.initials: HE
authors.lastname: Hughes
authors.forename: R
authors.initials: R
authors.lastname: Wallerstein
authors.forename: L
authors.initials: L
authors.lastname: Nicholson
authors.forename: L
authors.initials: L
authors.lastname: States
authors.forename: L D
authors.initials: LD
authors.lastname: Bason
authors.forename: P
authors.initials: P
authors.lastname: Kaplan
authors.forename: S A
authors.initials: SA
authors.lastname: Zderic
authors.forename: A C
authors.initials: AC
authors.lastname: Duhaime
authors.forename: F
authors.initials: F
authors.lastname: Miller
authors.forename: M R
authors.initials: MR
authors.lastname: Magnusson
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008588:Meningocele / Q000473:pathology*; D011859:Radiography; D013577:Syndrome