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[Experts consensus on diagnosis and treatment of achondroplasia].

出版信息

Zhonghua Er Ke Za Zhi. 2021 Jul 2;59(7):545-550. doi: 10.3760/cma.j.cn112140-20201229-01142.

DOI:10.3760/cma.j.cn112140-20201229-01142
PMID:34405635
Abstract
摘要

相似文献

1
[Experts consensus on diagnosis and treatment of achondroplasia].[软骨发育不全诊断与治疗专家共识]
Zhonghua Er Ke Za Zhi. 2021 Jul 2;59(7):545-550. doi: 10.3760/cma.j.cn112140-20201229-01142.
2
Health supervision for children with achondroplasia.软骨发育不全患儿的健康监管
Pediatrics. 2005 Sep;116(3):771-83. doi: 10.1542/peds.2005-1440.
3
Failure to early prenatal diagnosis in classic achondroplasia.经典型软骨发育不全的产前早期诊断失败。
Am J Med Genet. 1979;3(4):371-5. doi: 10.1002/ajmg.1320030408.
4
First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia.
Lancet. 1994 Nov 26;344(8935):1511-2. doi: 10.1016/s0140-6736(94)90332-8.
5
[Achondroplasia revealed by ultrasound in utero].[超声产前诊断软骨发育不全]
Jugosl Ginekol Opstet. 1977 Jul-Aug;17(4):239-41.
6
[DNA diagnosis for short limb dwarfism, possibility of prenatal diagnosis for achondroplasia].[短肢侏儒症的DNA诊断，软骨发育不全的产前诊断可能性]
Nihon Sanka Fujinka Gakkai Zasshi. 1996 Mar;48(3):229-32.
7
Appraisal of Clinical Practice Guideline: International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
J Physiother. 2023 Jul;69(3):197. doi: 10.1016/j.jphys.2023.05.006. Epub 2023 Jun 13.
8
Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy.婴儿期软骨发育不全患者枕大孔狭窄评估与治疗的最佳实践
Am J Med Genet A. 2016 Jan;170A(1):42-51. doi: 10.1002/ajmg.a.37394. Epub 2015 Sep 23.
9
[Prenatal ultrasonic diagnosis of achondroplasia].[软骨发育不全的产前超声诊断]
Ultraschall Med. 1985 Aug;6(4):229-32. doi: 10.1055/s-2007-1006061.
10
Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses.软骨发育不全与唐氏综合征的关联：超声及三维螺旋计算机断层扫描分析在产前诊断中的困难
Congenit Anom (Kyoto). 2015 May;55(2):116-20. doi: 10.1111/cga.12097.

引用本文的文献

1
[Significance and considerations of early diagnosis and treatment for improving height outcomes in children with achondroplasia].[关于改善软骨发育不全患儿身高结局的早期诊断与治疗的意义及考量]
Zhongguo Dang Dai Er Ke Za Zhi. 2025 Mar 15;27(3):262-268. doi: 10.7499/j.issn.1008-8830.2410107.
2
Failure to diagnose hypochondroplasia by prenatal diagnosis: a case report.未能通过产前诊断诊断出软骨发育不全症：一例报告。
BMC Pediatr. 2023 Mar 2;23(1):100. doi: 10.1186/s12887-023-03917-2.
3
[Clinical features and mutations of children with achondroplasia].
[软骨发育不全患儿的临床特征与突变]
Zhongguo Dang Dai Er Ke Za Zhi. 2022 Apr 15;24(4):405-410. doi: 10.7499/j.issn.1008-8830.2111039.