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Case Reports
. 2016 Apr;170A(4):1070-5.
doi: 10.1002/ajmg.a.37541. Epub 2016 Jan 11.

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation

Resham Ejaz  1 , Wen Qin  2 , Lijia Huang  2 , Susan Blaser  3 , Martine Tetreault  4   5 , Taila Hartley  2 , Kym M Boycott  2 , Melissa T Carter  1 ; Care4Rare Canada Consortium
Collaborators, Affiliations
Case Reports

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation

Resham Ejaz et al. Am J Med Genet A. 2016 Apr.

Abstract

Lateral meningocele syndrome (LMS), or Lehman syndrome, is a rare disorder characterized by multiple lateral spinal meningoceles, distinctive facial features, joint hypermobility and hypotonia, along with skeletal, cardiac, and urogenital anomalies. Heterozygous NOTCH3 mutations affecting the terminal exon 33 were recently reported as causative in six families with LMS. We report a boy with LMS, the fourteenth reported case, with a de novo 80 base pair deletion in exon 33 of NOTCH3. Our patient's prenatal findings, complex cardiac anomalies, and severe feeding difficulties further expand our understanding of this rare condition.

Keywords: Lehman syndrome; NOTCH3; connective tissue disorders; lateral meningocele syndrome.

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