Novel variants and phenotypes of ROBO3 gene associated with horizontal gaze palsy with progressive scoliosis  

作　　者：Yan Xie Lijuan Huang Yunyu Zhou Jin Wu Ningdong Li 

机构地区：[1]Department of Ophthalmology,Beijing Children’s Hospital,Capital Medical University,National Center for Children’s Health,Beijing,China [2]Department of Ophthalmology,The Second Affiliated Hospital of Fujian Medical University,Fujian,China [3]Department of Ophthalmology,Shenzhen Children’s Hospital,Guangdong,China [4]Department of Ophthalmology,Shanghai General Hospital,Shanghai,China [5]Department of Ophthalmology,Children’s Hospital,Capital Institute of Pediatrics,Beijing,China

出　　处：《Pediatric Investigation》2024年第1期72-74,共3页儿科学研究（英文）

摘　　要：To the editor:Horizontal gaze palsy with progressive scoliosis(HGPPS)is a rare autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis.Based on the clinical features and molecular diagnosis,HGPPS could be classified into two subtypes.HGPPS1(OMIM1#607313)is caused by mutations of the ROBO3 gene.1 With exceptions of inability to move eyes horizontally and scoliosis,patients may have symptoms such as nystagmus,strabismus,facial palsy,sensory hearing loss,nodding of the head,and motor delay2.

关 键 词：PALSY SCOLIOSIS diagnosis 

分 类 号：R682.3[医药卫生—骨科学]