Bainbridge-Ropers syndrome in children: a case report and literature review

  • 张广宇,王军,李三松,等
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  • Department of Children Rehabilitation, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, Henan, China

Online published: 2019-04-18

Abstract

 Objective To explore the clinical characteristics of Bainbridge-Ropers syndrome. Method Clinical data and gene test results of Bainbridge-Ropers syndrome in a child were retrospectively analyzed, and related literature was reviewed. Results A girl aged 11 months had feeding difficulties, failure to thrive, developmental retardation, specific facial features (microcephaly, arched eyebrows, upslanting palpebral fissures, anteverted nares and low ear), ulnar deviation of the hands, and hypotonia of the four limbs. Genomic sequencing showed ASXL3 gene has a de novo heterozygous mutation, C. 3106 (exon 12) C > T, resulting in a protein change to P. (Arg1036*). Conclusion Gene detection is helpful for the early diagnosis of Bainbridge-Ropers syndrome.

Cite this article

张广宇,王军,李三松,等 . Bainbridge-Ropers syndrome in children: a case report and literature review[J]. Journal of Clinical Pediatrics, 2019 , 37(4) : 297 . DOI: 10.3969/j.issn.1000-3606.2019.04.013

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