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伴有颅骨骼发育异常、多囊肾和肾小球肾炎的散发性特发性肢端骨质溶解症。一例哈伊杜-切尼综合征病例。

Sporadic idiopathic acroosteolysis with cranio-skeletal dysplasis, polycystic kidneys and glomerulonephritis. A case of the Hajdu-Cheney syndrome.

作者信息

Rosenmann E, Penchas S, Cohen T, Aviad I

出版信息

Pediatr Radiol. 1977 Sep 1;6(2):116-20. doi: 10.1007/BF00973535.

DOI:10.1007/BF00973535
PMID:896350
Abstract

A case of the Hajdu-Cheney syndrome in a 15 year old boy is described. The manifestations were: 1. isiopathic progressive acro-osteotions; 2. mutiple cranio-skeletal abnormalities; and 3. polycystic kidneys complicated by a rapidly progressive glomerulonephritis.

摘要

本文描述了一名15岁男孩患哈伊杜-切尼综合征的病例。其临床表现为:1. 特发性进行性肢端骨溶解;2. 多发性颅骨骨骼异常;3. 多囊肾并发快速进展性肾小球肾炎。

相似文献

1
Sporadic idiopathic acroosteolysis with cranio-skeletal dysplasis, polycystic kidneys and glomerulonephritis. A case of the Hajdu-Cheney syndrome.伴有颅骨骼发育异常、多囊肾和肾小球肾炎的散发性特发性肢端骨质溶解症。一例哈伊杜-切尼综合征病例。
Pediatr Radiol. 1977 Sep 1;6(2):116-20. doi: 10.1007/BF00973535.
2
Acro-osteolysis in a patient with Hajdu-Cheney syndrome demonstrated by bone scintigraphy.骨闪烁显像显示一名患有哈-切综合征患者的肢端骨质溶解。
Clin Nucl Med. 1984 Nov;9(11):659. doi: 10.1097/00003072-198411000-00017.
3
Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome). Review of a genetic "acro-osteolysis" syndrome.关节-牙-骨发育不良(哈伊杜-切尼综合征)。一种遗传性“肢端骨质溶解”综合征的综述。
Z Kinderheilkd. 1973 Apr 4;114(2):93-110. doi: 10.1007/BF00440497.
4
Acroosteolysis (Hajdu-Cheney syndrome).肢端骨质溶解症(哈伊杜-切尼综合征)。
Birth Defects Orig Artic Ser. 1974;10(12):106-23.
5
[Idiopathic osteolysis (Hajdu-Cheney) (author's transl)].特发性骨质溶解症(哈伊杜-切尼综合征)(作者译)
Rofo. 1978 Jan;128(1):75-9.
6
[Hajdu-Cheney Syndrome: a case of acroosteolysis].[哈伊杜-切尼综合征:一例肢端骨质溶解症]
Acta Reumatol Port. 2007 Apr-Jun;32(2):169-74.
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Hadju-Cheney syndrome. Report of a non-familial case.哈朱-切尼综合征。一例非家族性病例报告。
Neuroradiology. 1981;21(5):295-301. doi: 10.1007/BF02100164.
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Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.进一步证明哈伊杜-切尼综合征与“蛇形腓骨-多囊肾综合征”为同一病症。
Am J Med Genet. 1998 Aug 6;78(5):474-81. doi: 10.1002/(sici)1096-8628(19980806)78:5<474::aid-ajmg14>3.0.co;2-c.
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Acroosteolysis and facial dysmorphia: a new case of Hajdu-Cheney syndrome.肢端肥大性骨溶解和面部畸形:哈杰-切尼综合征的新病例。
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Hajdu-Cheney syndrome: report of a case.哈伊杜-切尼综合征:一例报告
Pediatr Dev Pathol. 2007 Nov-Dec;10(6):470-6. doi: 10.2350/06-07-0132.1.

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Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report.伴有NOTCH2基因新变异的哈伊杜-切尼综合征:一例报告
Bone Rep. 2023 Aug 18;19:101709. doi: 10.1016/j.bonr.2023.101709. eCollection 2023 Dec.
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Surgical management of high-grade lumbar spondylolisthesis associated with Hajdu-Cheney syndrome: illustrative case.与哈伊杜-切尼综合征相关的重度腰椎滑脱的手术治疗:病例说明
J Neurosurg Case Lessons. 2022 Aug 15;4(7). doi: 10.3171/CASE22171.
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Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report.

本文引用的文献

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Cranio-skeletal dysplasia.颅骨骼发育异常
Br J Radiol. 1948 Jan;21(241):42-8. doi: 10.1259/0007-1285-21-241-42.
2
[Pyknodysostosis].[致密性骨发育不全]
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Idiopathic nonfamilial acro-osteolysis associated with other bone abnormalities.特发性非家族性肢端骨质溶解伴其他骨骼异常。
哈伊杜-切尼综合征:一名接受振动疗法治疗的西班牙儿童中的一种新型NOTCH2突变:病例报告
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Nursing Care Plan for Patients with Hajdu-Cheney Syndrome.哈杰金-切尼综合征患者的护理计划。
Int J Environ Res Public Health. 2022 Jun 18;19(12):7489. doi: 10.3390/ijerph19127489.
5
Hajdu-Cheney Syndrome: Report of a Case in Spain.哈伊杜-切尼综合征:西班牙一例病例报告。
Diagnostics (Basel). 2022 Feb 23;12(3):566. doi: 10.3390/diagnostics12030566.
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Hajdu-Cheney Syndrome: A Systematic Review of the Literature.哈杰杜-切尼综合征:文献系统回顾。
Int J Environ Res Public Health. 2020 Aug 25;17(17):6174. doi: 10.3390/ijerph17176174.
7
Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease.伴有蛇形腓骨和多囊肾病的哈伊杜-切尼综合征。
Pediatr Radiol. 2009 Jan;39(1):47-52. doi: 10.1007/s00247-008-0992-9. Epub 2008 Sep 25.
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Multicentric/massive idiopathic osteolysis in a 17-year-old girl.一名17岁女孩的多中心/大块特发性骨质溶解症。
Pediatr Radiol. 1990;21(1):48-51. doi: 10.1007/BF02010815.
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Lupus nephritis with polycystic kidney disease.狼疮性肾炎合并多囊肾病
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Am J Roentgenol Radium Ther Nucl Med. 1960 Apr;83:687-91.
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ACRO-OSTEOLYSIS.肢端骨质溶解
Am J Roentgenol Radium Ther Nucl Med. 1965 Jul;94:595-607.
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OSTEOLYSIS: A COMPLICATION OF TRAUMA. REPORT OF 2 CASES.骨质溶解:创伤的一种并发症。2例报告。
Am J Roentgenol Radium Ther Nucl Med. 1965 Jul;94:591-4.
6
OSTEOARTICULAR CHANGES IN A CASE OF ESSENTIAL OSTEOLYSIS; AN ANATOMICAL AND RADIOLOGICAL STUDY.原发性骨质溶解症一例的骨关节改变;解剖学与放射学研究
J Bone Joint Surg Br. 1965 May;47:339-53.
7
CRANIO-SKELETAL DYSPLASIA WITH ACRO-OSTEOLYSIS.伴有肢端骨质溶解的颅骨-骨骼发育异常
Br J Radiol. 1964 Sep;37:702-5. doi: 10.1259/0007-1285-37-441-702.
8
[Nonfamilial pseudosyringomyelic ulceromutilating acropathies of the lower limbs; concerning 23 observations].[下肢非家族性假性脊髓空洞症性溃疡毁损性肢端病;关于23例观察病例]
Presse Med (1893). 1957 Dec 25;65(94):2127-32.
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Idiopathic non-familial acro-osteolysis; report of a case observed for five years.特发性非家族性肢端骨质溶解症;一例五年观察报告
Radiology. 1957 Aug;69(2):259-62. doi: 10.1148/69.2.259.
10
Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone); its relation to hemangiomatosis.巨大性骨溶解(骨的急性自发性吸收、幻影骨、骨消失);其与血管瘤病的关系。
J Bone Joint Surg Am. 1955 Oct;37-A(5):985-1004.