外显子
医学
张力减退
泌尿生殖系统
关节过度活动
解剖
儿科
遗传学
生物
基因
作者
Resham Ejaz,Qiuyuan Wen,Lijia Huang,Susan Blasér,Martine Tétreault,Taila Hartley,Kym M. Boycott,Melissa T. Carter
摘要
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.
科研通智能强力驱动
Strongly Powered by AbleSci AI