Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation
- 11 January 2016
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 170 (4), 1070-1075
- https://doi.org/10.1002/ajmg.a.37541
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
Funding Information
- Genome Canada
- Canadian Institutes of Health Research
- Ontario Genomics Institute
- Hospital for Sick Children
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