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遗传因素导致的身材矮小：三个经典案例回顾。

Genetic conditions of short stature: A review of three classic examples.

机构信息

Department of Psychiatry & Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS, United States.

Department of Pediatrics, University of Kansas Medical Center, Kansas City, KS, United States.

出版信息

Front Endocrinol (Lausanne). 2022 Oct 21;13:1011960. doi: 10.3389/fendo.2022.1011960. eCollection 2022.

DOI:10.3389/fendo.2022.1011960
PMID:36339399
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9634554/
Abstract

Noonan, Turner, and Prader-Willi syndromes are classical genetic disorders that are marked by short stature. Each disorder has been recognized for several decades and is backed by extensive published literature describing its features, genetic origins, and optimal treatment strategies. These disorders are accompanied by a multitude of comorbidities, including cardiovascular issues, endocrinopathies, and infertility. Diagnostic delays, syndrome-associated comorbidities, and inefficient communication among the members of a patient's health care team can affect a patient's well-being from birth through adulthood. Insufficient information is available to help patients and their multidisciplinary team of providers transition from pediatric to adult health care systems. The aim of this review is to summarize the clinical features and genetics associated with each syndrome, describe best practices for diagnosis and treatment, and emphasize the importance of multidisciplinary teams and appropriate care plans for the pediatric to adult health care transition.

摘要

努南综合征、特纳综合征和普拉德-威利综合征是经典的遗传疾病，其特征是身材矮小。每种疾病都已被认识几十年，并得到了广泛的文献支持，描述了其特征、遗传起源和最佳治疗策略。这些疾病伴随着多种合并症，包括心血管问题、内分泌疾病和不孕不育。诊断延迟、综合征相关合并症以及患者医疗团队成员之间沟通不畅，会影响患者从出生到成年的健康。目前可获得的信息不足以帮助患者及其多学科医疗团队从儿科过渡到成人保健系统。本综述的目的是总结每个综合征的临床特征和遗传学，描述诊断和治疗的最佳实践，并强调多学科团队和适当的护理计划对儿科到成人保健过渡的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebc9/9634554/487924e6a3d3/fendo-13-1011960-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebc9/9634554/9ccf89e9fd85/fendo-13-1011960-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebc9/9634554/7c8a180fba29/fendo-13-1011960-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebc9/9634554/4c59c850093a/fendo-13-1011960-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebc9/9634554/c28fe1e1ce03/fendo-13-1011960-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebc9/9634554/e183f6faf723/fendo-13-1011960-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebc9/9634554/314566a25960/fendo-13-1011960-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebc9/9634554/487924e6a3d3/fendo-13-1011960-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebc9/9634554/9ccf89e9fd85/fendo-13-1011960-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebc9/9634554/7c8a180fba29/fendo-13-1011960-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebc9/9634554/4c59c850093a/fendo-13-1011960-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebc9/9634554/c28fe1e1ce03/fendo-13-1011960-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebc9/9634554/e183f6faf723/fendo-13-1011960-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebc9/9634554/314566a25960/fendo-13-1011960-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebc9/9634554/487924e6a3d3/fendo-13-1011960-g007.jpg

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JAMA Netw Open. 2022 Jan 4;5(1):e2141911. doi: 10.1001/jamanetworkopen.2021.41911.
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Clocks Sleep. 2024 Nov 5;6(4):656-667. doi: 10.3390/clockssleep6040044.
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Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.德斯布夸斯发育不良的临床与遗传学研究：111 例病例报告综述。
Int J Mol Sci. 2024 Sep 7;25(17):9700. doi: 10.3390/ijms25179700.
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