Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review

Ying Lv; Liuyan Zhu; Jing Zheng; Dingwen Wu; Jie Shao

doi:10.3389/fped.2018.00430

Frontiers in Pediatrics (Jan 2019)

Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review

Ying Lv,
Liuyan Zhu,
Jing Zheng,
Dingwen Wu,
Jie Shao

Affiliations

Ying Lv: Department of Pediatric Health Care, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China
Liuyan Zhu: Department of Pediatric Health Care, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China
Jing Zheng: Department of Gene Screening Laboratory, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China
Dingwen Wu: Department of Gene Screening Laboratory, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China
Jie Shao: Department of Pediatric Health Care, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China

DOI: https://doi.org/10.3389/fped.2018.00430
Journal volume & issue: Vol. 6

Abstract

Read online

Mutation of RPS6KA3 can induce Coffin–Lowry syndrome, an X-linked syndrome. The case here reported manifests its signature characteristic of short stature, facial dysmorphism, development retardation, hearing defect. The mutation of RPS6KA3 we detected by NGS analysis is c.2185 C > T. The short stature is a noteworthy problem we discuss here to improve the patient's growth and development. The efficacy and safety of application of growth hormone analogs on patients with CLS are not confirmed and need to be carefully considered.

Published in Frontiers in Pediatrics

ISSN: 2296-2360 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Pediatrics
Website: http://journal.frontiersin.org/journal/pediatrics

About the journal

Abstract

Keywords