title: Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.
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.
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Resham
authors.initials: R
authors.lastname: Ejaz
authors.affiliation: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Wen
authors.initials: W
authors.lastname: Qin
authors.affiliation: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Lijia
authors.initials: L
authors.lastname: Huang
authors.affiliation: Division of Neuroradiology, Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Susan
authors.initials: S
authors.lastname: Blaser
authors.affiliation: Department of Human Genetics, McGill University, Montreal, Quebec, Canada.|McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.
authors.forename: Martine
authors.initials: M
authors.lastname: Tetreault
authors.affiliation: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Taila
authors.initials: T
authors.lastname: Hartley
authors.affiliation: Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Kym M
authors.initials: KM
authors.lastname: Boycott
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Melissa T
authors.initials: MT
authors.lastname: Carter
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons; D019066:Facies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008588:Meningocele / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D059906:Neuroimaging; D010641:Phenotype; D000071656:Receptor, Notch3 / Q000235:genetics*
chemical_list: D000071656:Receptor, Notch3
keywords: Lehman syndrome; NOTCH3; connective tissue disorders; lateral meningocele syndrome