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颈眼听觉(维尔德文克)综合征中的听力损失。

Hearing loss in the cervico-oculo-acoustic (Wildervanck) syndrome.

作者信息

Cremers C W, Hoogland G A, Kuypers W

出版信息

Arch Otolaryngol. 1984 Jan;110(1):54-7. doi: 10.1001/archotol.1984.00800270058015.

DOI:10.1001/archotol.1984.00800270058015
PMID:6689909
Abstract

A 22-year-old woman with mixed hearing loss, Klippel-Feil anomalad (fused cervical vertebrae), and bilateral abducens palsy with retracted bulb (Duane's syndrome) is classified as having the cervico-oculo-acoustic syndrome or Wildervanck syndrome. In this syndrome, the unilateral or bilateral congenital hearing loss is usually severe and of neurosensory origin. To our knowledge, this is the third case of this syndrome with the classical triad and a mixed hearing loss. It is the second case in which an exploratory tympanotomy was performed. An ankylosis of the stapes was found. Stapedectomy and Teflon interposition were successfully carried out. Since the triad of the cervico-oculo-acoustic syndrome can be incomplete, a review of the association of Klippel-Feil anomalad and hearing loss is also presented, with special attention to the anomalies of the ossicular chain.

摘要

一名22岁女性,患有混合性听力损失、克-费二氏异常(颈椎融合)以及双侧展神经麻痹伴眼球后缩(杜安综合征),被归类为患有颈-眼-耳综合征或维尔德文克综合征。在该综合征中,单侧或双侧先天性听力损失通常严重且源于神经感觉。据我们所知,这是该综合征出现典型三联征及混合性听力损失的第三例。这是第二例进行了探查性鼓室切开术的病例。发现镫骨固定。成功实施了镫骨切除术和聚四氟乙烯植入术。由于颈-眼-耳综合征的三联征可能不完整,本文还对克-费二氏异常与听力损失的关联进行了综述,特别关注听骨链的异常情况。

相似文献

1
Hearing loss in the cervico-oculo-acoustic (Wildervanck) syndrome.颈眼听觉(维尔德文克)综合征中的听力损失。
Arch Otolaryngol. 1984 Jan;110(1):54-7. doi: 10.1001/archotol.1984.00800270058015.
2
[Wildervanck or cervico-oculo-acoustic syndrome].[维尔代凡克综合征或颈眼耳综合征]
Lin Chuang Er Bi Yan Hou Ke Za Zhi. 1997 Nov;11(11):499-501.
3
The Wildervanck syndrome: cervico-oculo-acoustic dysplasia.维尔万克综合征:颈-眼-听觉发育异常。
Otolaryngol Head Neck Surg (1979). 1979 Nov-Dec;87(6):892-7. doi: 10.1177/019459987908700626.
4
Wildervanck syndrome (cervico-oculo-acoustic syndrome).
J Postgrad Med. 1992 Oct-Dec;38(4):180-2.
5
Surgery for congenital conductive deafness in Klippel-Feil syndrome.
Ann Otol Rhinol Laryngol. 1988 Jul-Aug;97(4 Pt 1):347-52. doi: 10.1177/000348948809700404.
6
Wildervanck or cervico-oculo-acoustic syndrome and MRI findings.维尔代凡克综合征或颈眼听觉综合征与磁共振成像表现
J Neurol Neurosurg Psychiatry. 1991 Jun;54(6):503-4. doi: 10.1136/jnnp.54.6.503.
7
Klippel-Feil syndrome with conductive deafness and histological findings of removed stapes.伴有传导性耳聋及镫骨切除组织学表现的克-费综合征
Ann Otol Rhinol Laryngol. 1983 Mar-Apr;92(2 Pt 1):202-6. doi: 10.1177/000348948309200222.
8
[Middle ear abnormalities in Klippel-Feil syndrome].
HNO. 1996 Sep;44(9):521-5. doi: 10.1007/s001060050048.
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Cervico-oculo-acoustic syndrome.颈眼耳综合征
Ophthalmic Paediatr Genet. 1985 Dec;6(3):183-7. doi: 10.3109/13816818509087639.
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Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings.
Clin Dysmorphol. 2002 Apr;11(2):125-8. doi: 10.1097/00019605-200204000-00010.

引用本文的文献

1
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.8q12 重复:伴有动眼神经退缩综合征和发育迟缓的新型可识别表型的确认。
Eur J Hum Genet. 2012 May;20(5):580-3. doi: 10.1038/ejhg.2011.243. Epub 2012 Jan 18.
2
Surgery for congenital anomalies of the middle ear with mobile stapes.镫骨活动的中耳先天性异常的手术治疗。
Eur Arch Otorhinolaryngol. 1993;250(6):327-31. doi: 10.1007/BF00188380.
3
Congenital corneal anaesthesia and the MURCS association: a case report.先天性角膜麻醉与MURCS综合征:一例报告
Br J Ophthalmol. 1988 Mar;72(3):236-8. doi: 10.1136/bjo.72.3.236.
4
Wildervanck or cervico-oculo-acoustic syndrome and MRI findings.维尔代凡克综合征或颈眼听觉综合征与磁共振成像表现
J Neurol Neurosurg Psychiatry. 1991 Jun;54(6):503-4. doi: 10.1136/jnnp.54.6.503.
5
Thalidomide embryopathy: a model for the study of congenital incomitant horizontal strabismus.沙利度胺胚胎病:先天性非共同性水平斜视研究的一个模型。
Trans Am Ophthalmol Soc. 1991;89:623-74.