Lateral meningocele syndrome: vertical transmission and expansion of the phenotype

Am J Med Genet A. 2005 Mar 1;133A(2):115-21. doi: 10.1002/ajmg.a.30526.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adult
  • Child
  • Child, Preschool
  • Face / abnormalities
  • Family Health
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Meningocele / pathology*
  • Radiography
  • Spine / abnormalities
  • Spine / diagnostic imaging
  • Syndrome