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与I型Chiari畸形相关的Silver-Russell综合征。病例报告。

Silver-Russell syndrome associated with type-I Chiari malformation. A case report.

作者信息

Naeem Babar, Nasim Javeria, Sultan Tipu

机构信息

Allama Iqbal Medical College Lahore Pakistan.

Punjab Medical College Faisalabad Pakistan.

出版信息

Clin Case Rep. 2023 Apr 25;11(4):e7203. doi: 10.1002/ccr3.7203. eCollection 2023 Apr.

DOI:10.1002/ccr3.7203
PMID:37124545
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10130416/
Abstract

Comprehensive medical evaluation is important for patients with SRS to identify associated medical conditions and provide timely interventions. Clinicians should remain vigilant for potential neurological manifestations in SRS patients.

摘要

全面的医学评估对于患有SRS的患者识别相关的医疗状况并提供及时干预非常重要。临床医生应时刻警惕SRS患者潜在的神经学表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89f5/10130416/9cb06d9413b6/CCR3-11-e7203-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89f5/10130416/7bc3871e3a10/CCR3-11-e7203-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89f5/10130416/95f66c0a3bda/CCR3-11-e7203-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89f5/10130416/9cb06d9413b6/CCR3-11-e7203-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89f5/10130416/7bc3871e3a10/CCR3-11-e7203-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89f5/10130416/95f66c0a3bda/CCR3-11-e7203-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89f5/10130416/9cb06d9413b6/CCR3-11-e7203-g001.jpg

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本文引用的文献

1
Effects of growth hormone therapy in pediatric patients with growth hormone deficiency and Chiari I malformation: a retrospective study.生长激素治疗对生长激素缺乏症合并Chiari I畸形患儿的影响：一项回顾性研究。
Childs Nerv Syst. 2020 Apr;36(4):835-839. doi: 10.1007/s00381-019-04370-2. Epub 2019 Sep 9.
2
Russell-Silver syndrome associated with low conus medullaris.罗素-西尔弗综合征合并脊髓圆锥低位。
J Pediatr Neurosci. 2016 Oct-Dec;11(4):361-363. doi: 10.4103/1817-1745.199482.
3
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Silver-Russell 综合征的诊断和管理：首个国际共识声明。
Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2.
4
Clinical spectrum of Silver - Russell syndrome.Silver-Russell综合征的临床谱
Contemp Clin Dent. 2013 Jul;4(3):363-5. doi: 10.4103/0976-237X.118346.
5
Progression of Chiari I malformations while on growth hormone replacement: a report of two cases.生长激素替代治疗期间Chiari I型畸形的进展：两例报告
Childs Nerv Syst. 2013 Dec;29(12):2291-4. doi: 10.1007/s00381-013-2080-1. Epub 2013 Mar 15.
6
The genetic aetiology of Silver-Russell syndrome.Silver-Russell综合征的遗传病因学。
J Med Genet. 2008 Apr;45(4):193-9. doi: 10.1136/jmg.2007.053017. Epub 2007 Dec 21.
7
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.11p15印记中心区域1甲基化缺失是典型罗素-西尔弗综合征常见且特定的病因：临床评分系统及表观遗传学-表型相关性
J Clin Endocrinol Metab. 2007 Aug;92(8):3148-54. doi: 10.1210/jc.2007-0354. Epub 2007 May 15.
8
Russell Silver syndrome and tethered spinal cord.罗素-西尔弗综合征与脊髓拴系
Childs Nerv Syst. 2004 Jul;20(7):473-5; discussion 476-82. doi: 10.1007/s00381-004-0919-1. Epub 2004 May 19.
9
The Chiari malformations.Chiari 畸形
J Neurol Neurosurg Psychiatry. 2002 Jun;72 Suppl 2(Suppl 2):ii38-ii40. doi: 10.1136/jnnp.72.suppl_2.ii38.
10
Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?患有母源7号染色体单亲二体的患者是否具有独特的轻度Silver-Russell表型？
J Med Genet. 2001 Apr;38(4):273-8. doi: 10.1136/jmg.38.4.273.