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Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation
Author(s) -
Ejaz Resham,
Qin Wen,
Huang Lijia,
Blaser Susan,
Tetreault Martine,
Hartley Taila,
Boycott Kym M.,
Carter Melissa T.
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37541
Subject(s) - exon , medicine , hypotonia , genitourinary system , joint hypermobility , anatomy , pediatrics , genetics , biology , gene
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. © 2016 Wiley Periodicals, Inc.