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杜安综合征与先天性上肢异常。家族性发病。

Duane syndrome and congenital upper-limb anomalies. A familial occurrence.

作者信息

Okihiro M M, Tasaki T, Nakano K K, Bennett B K

出版信息

Arch Neurol. 1977 Mar;34(3):174-9. doi: 10.1001/archneur.1977.00500150060012.

DOI:10.1001/archneur.1977.00500150060012
PMID:843249
Abstract

We report a family in which five members in three generations have been afflicted with Duane syndrome. Four of the five members also have congenital hypoplasia of the thenar eminence. One also was afflicted with Hirschsprung disease and another was born deaf. A sixth member, who does not have Duane syndrome, is afflicted with a more extensive malformation of the upper extremities and unilateral deafness. We present a discussion of Duane syndrome and its association with other congenital anomalies. Although some members of this family presented in this report show features that are similar to the Holt-Oram syndrome, Wildervanck's syndrome, and others reported in the literature, there are several unique features about this family that we thought were worth reporting.

摘要

我们报告了一个家族,三代人中的五名成员患有杜安综合征。这五名成员中有四名还患有大鱼际肌先天性发育不全。其中一人还患有先天性巨结肠,另一人先天性耳聋。第六名成员没有杜安综合征,但患有更广泛的上肢畸形和单侧耳聋。我们对杜安综合征及其与其他先天性异常的关联进行了讨论。尽管本报告中呈现的该家族一些成员表现出与文献中报道的霍尔特-奥勒姆综合征、维尔德文克综合征及其他综合征相似的特征,但该家族仍有几个独特之处,我们认为值得报告。

相似文献

1
Duane syndrome and congenital upper-limb anomalies. A familial occurrence.杜安综合征与先天性上肢异常。家族性发病。
Arch Neurol. 1977 Mar;34(3):174-9. doi: 10.1001/archneur.1977.00500150060012.
2
The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness.杜安异常、桡骨射线异常和耳聋的大日宏综合征。
Am J Med Genet. 1985 Oct;22(2):273-80. doi: 10.1002/ajmg.1320220208.
3
Congenital vascular abnormalities in Okihiro's syndrome--a case report.冲广综合征中的先天性血管异常——一例报告
Angiology. 1987 Aug;38(8):642-6. doi: 10.1177/000331978703800812.
4
Bilateral Duane retraction syndrome associated with an extraordinary hand anomaly.双侧杜安眼球后退综合征伴一种罕见手部异常
Strabismus. 2003 Sep;11(3):157-62. doi: 10.1076/stra.11.3.157.16646.
5
Wildervanck's syndrome--unilateral Mondini dysplasia identified by computed tomography.
J Laryngol Otol. 1989 Apr;103(4):408-11. doi: 10.1017/s0022215100109077.
6
Cholelithiasis in cervico-oculo-acoustic (Wildervanck's) syndrome.
Acta Paediatr. 1993 Oct;82(10):890-1. doi: 10.1111/j.1651-2227.1993.tb12589.x.
7
Vascular insufficiency in Okihiro's syndrome secondary to hypothenar hammer syndrome.小鱼际锤状指综合征继发于冲博综合征中的血管功能不全。
J Hand Surg Am. 1987 May;12(3):401-5. doi: 10.1016/s0363-5023(87)80013-8.
8
Congenital anomalies in patients with Duane retraction syndrome and their relatives.杜安眼球后退综合征患者及其亲属的先天性异常。
J AAPOS. 2000 Apr;4(2):106-9. doi: 10.1067/mpa.2000.103439.
9
Duane's retraction syndrome associated with cerebral arteriovenous malformation.杜安眼球后退综合征伴大脑动静脉畸形
South Med J. 1986 May;79(5):623-5. doi: 10.1097/00007611-198605000-00026.
10
[The Stilling-Duane-plus syndrome].[施蒂林-杜安综合征伴其他症状]
Bull Soc Ophtalmol Fr. 1983 Oct;83(10):1199-200.

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A mutation of in a Chinese family with Okihiro syndrome.一个中国 Okihiro 综合征家系中的 突变。
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Ultrasonography in patients with congenital thenar hypoplasia (Cavanagh syndrome) and co-morbid carpal tunnel syndrome.先天性大鱼际肌发育不全(卡瓦纳综合征)合并腕管综合征患者的超声检查
Clin Neurophysiol Pract. 2021 Oct 13;6:256-259. doi: 10.1016/j.cnp.2021.09.003. eCollection 2021.
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Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.
遗传因素在人类桡骨发育不全发病机制中的作用。
Curr Genomics. 2015 Aug;16(4):264-78. doi: 10.2174/1389202916666150528000412.
4
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.在中国一个患有杜安眼球后退综合征的家系中,与一种新的类SALL4基因突变相关的多样化临床表现。
Mol Vis. 2013 May 6;19:986-94. Print 2013.
5
Immunoexpression of SALL4 in Wilms tumors and developing kidney.SALL4 在威尔姆斯瘤和发育肾中的免疫表达。
Pathol Oncol Res. 2011 Sep;17(3):639-44. doi: 10.1007/s12253-011-9364-0. Epub 2011 Jan 22.
6
[Okihiro syndrome : Duane's syndrome and radial malformations of the limbs].[奥基希罗综合征:杜安综合征与肢体桡骨畸形]
Ophthalmologe. 2008 Jun;105(6):588-91. doi: 10.1007/s00347-007-1633-7.
7
A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis.一种用于研究Sall4在早期胚胎发育和器官发生中作用的Sall4突变小鼠模型。
Genesis. 2007 Jan;45(1):51-8. doi: 10.1002/dvg.20264.
8
[Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD)].[先天性眼外肌纤维化(CFEOM)及先天性颅神经支配障碍综合征(CCDD)的其他表型]
Nervenarzt. 2005 Apr;76(4):395-402. doi: 10.1007/s00115-004-1742-3.
9
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.20号染色体上SALL4基因座的突变会导致一系列临床上重叠的表型,包括冲弘综合征、心手综合征、肢-肾-眼综合征,以及之前报道的代表沙利度胺胚胎病的患者。
J Med Genet. 2003 Jul;40(7):473-8. doi: 10.1136/jmg.40.7.473.
10
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.杜安桡骨射线综合征(奥基希罗综合征)定位于20q13,由SAL家族的新成员SALL4基因突变引起。
Am J Hum Genet. 2002 Nov;71(5):1195-9. doi: 10.1086/343821. Epub 2002 Oct 22.