Acknowledgements
The authors would like to thank the patient’s family and the Beijing JinZhun Gene Technology Co., Ltd. The work couldn’t be done without their participation and help.

Funding
We receive no funding support.

Availability of data and materials
Not applicable. For protecting patient privacy.

Authors’ contributions
Study design and drafting of manuscript: YL, XZ. Clinical study perform: YL, XZ, HZ. Genetic analysis: HZ, HW. Acquisition and interpretation of data: YL, XG, AZ, LZ, XL. Critical revision of the manuscript: XH, HW, YL. All authors have read and approved the final manuscript.

Competing interest
The authors declare that they have no competing interests.

Consent for publication
Written informed consents were obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.

Ethics approval and consent to participate
This case report has been approved by the Beijing Tiantan Hospital, Capital Medical University’s Research Ethics Board. Written informed consent was obtained from the patient and her families for genetic analysis and publication of this case report.