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A case of 18p deletion syndrome after blepharoplasty

Authors Xu LJ, Wu LX, Yuan Q, Lv ZG, Jiang XY

Received 5 October 2016

Accepted for publication 8 November 2016

Published 12 January 2017 Volume 2017:10 Pages 15—18

DOI https://doi.org/10.2147/IMCRJ.S123938

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Yusuke Okuma

Peer reviewer comments 2

Editor who approved publication: Dr Scott Fraser


Li-juan Xu,1 Lv-xian Wu,2 Qing Yuan,3 Zhi-gang Lv,1 Xue-yan Jiang2

1Department of Opthalmology, 2Department of Pediatrics, 3Department of Clinical Laboratory, Jinhua Central Hospital, Jinhua, Zhejiang, People’s Republic of China

Objective: The deletion of the short arm of chromosome 18 is thought to be one of the rare chromosomal aberrations. Here, we report a case to review this disease.
Case report: The proband is a five-and-a-half-year-old girl who has had phenotypes manifested mainly by ptosis, broad face, broad neck with low posterior hairline, mental retardation, short stature, and other malformations. Chromosomal analysis for her mother showed a normal karyotype. Her father and younger brother were phenotypically normal.
Result: Phenotypical features were quite similar throughout other cases and in accordance with the usual phenotype of del(18p) suggested within the same cases and among the del(18p) cases described. She underwent blepharoplasty, which improved her appearance.
Conclusion: 18p deletion syndrome is diagnosed by gene analysis. Plastic surgeries for improving the appearance might be an option for these patients.

Keywords: chromosome, deletion, blepharoplasty

A Letter to the Editor has been received and published for this article.

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