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

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 s...

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Autores principales: Lv, Ying, Zhu, Liuyan, Zheng, Jing, Wu, Dingwen, Shao, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357678/
https://www.ncbi.nlm.nih.gov/pubmed/30740391
http://dx.doi.org/10.3389/fped.2018.00430
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author Lv, Ying
Zhu, Liuyan
Zheng, Jing
Wu, Dingwen
Shao, Jie
author_facet Lv, Ying
Zhu, Liuyan
Zheng, Jing
Wu, Dingwen
Shao, Jie
author_sort Lv, Ying
collection PubMed
description 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.
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spelling pubmed-63576782019-02-08 Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review Lv, Ying Zhu, Liuyan Zheng, Jing Wu, Dingwen Shao, Jie Front Pediatr Pediatrics 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. Frontiers Media S.A. 2019-01-25 /pmc/articles/PMC6357678/ /pubmed/30740391 http://dx.doi.org/10.3389/fped.2018.00430 Text en Copyright © 2019 Lv, Zhu, Zheng, Wu and Shao. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Lv, Ying
Zhu, Liuyan
Zheng, Jing
Wu, Dingwen
Shao, Jie
Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review
title Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review
title_full Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review
title_fullStr Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review
title_full_unstemmed Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review
title_short Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review
title_sort growth concerns in coffin–lowry syndrome: a case report and literature review
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357678/
https://www.ncbi.nlm.nih.gov/pubmed/30740391
http://dx.doi.org/10.3389/fped.2018.00430
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AT wudingwen growthconcernsincoffinlowrysyndromeacasereportandliteraturereview
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