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 sho...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2019-01-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/article/10.3389/fped.2018.00430/full |
| _version_ | 1818272421882363904 |
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| author | Ying Lv Liuyan Zhu Jing Zheng Dingwen Wu Jie Shao |
| author_facet | Ying Lv Liuyan Zhu Jing Zheng Dingwen Wu Jie Shao |
| author_sort | Ying Lv |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-12T21:41:48Z |
| format | Article |
| id | doaj.art-239e974e97154f59b69e64cdc19d14cc |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-12T21:41:48Z |
| publishDate | 2019-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-239e974e97154f59b69e64cdc19d14cc2022-12-22T00:11:02ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602019-01-01610.3389/fped.2018.00430423968Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature ReviewYing Lv0Liuyan Zhu1Jing Zheng2Dingwen Wu3Jie Shao4Department of Pediatric Health Care, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaDepartment of Pediatric Health Care, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaDepartment of Gene Screening Laboratory, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaDepartment of Gene Screening Laboratory, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaDepartment of Pediatric Health Care, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaMutation 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.https://www.frontiersin.org/article/10.3389/fped.2018.00430/fullRSK2Coffin–Lowrygrowth retardationpervasive development disordergrowth hormone |
| spellingShingle | Ying Lv Liuyan Zhu Jing Zheng Dingwen Wu Jie Shao Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review Frontiers in Pediatrics RSK2 Coffin–Lowry growth retardation pervasive development disorder growth hormone |
| 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 | RSK2 Coffin–Lowry growth retardation pervasive development disorder growth hormone |
| url | https://www.frontiersin.org/article/10.3389/fped.2018.00430/full |
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