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眼耳椎体发育不良(Goldenhar-Gorlin综合征)中的颅内脂肪瘤、脑积水及其他中枢神经系统异常

Intracranial lipomas, hydrocephalus and other CNS anomalies in oculoauriculo-vertebral dysplasia (Goldenhar-Gorlin syndrome).

作者信息

Aleksic S, Budzilovich G, Greco M A, McCarthy J, Reuben R, Margolis S, Epstein F, Feigin I, Pearson J

出版信息

Childs Brain. 1984;11(5):285-97. doi: 10.1159/000120189.

DOI:10.1159/000120189
PMID:6499566
Abstract

13 cases of Goldenhar-Gorlin syndrome are presented in which numerous central nervous system anomalies have been found. These include occipital encephalocele, hydrocephalus, aqueductal stenosis, agenesis of corpus callosum, multiple congenital lipomas and many others. Pertinent literature has been reviewed. It is concluded that any part of the central nervous system can be involved in this condition and that careful evaluation is indicated in order to rule out a treatable intracranial anomaly.

摘要

本文报告了13例Goldenhar-Gorlin综合征病例,其中发现了许多中枢神经系统异常。这些异常包括枕部脑膨出、脑积水、导水管狭窄、胼胝体发育不全、多发性先天性脂肪瘤等等。相关文献已被综述。结论是,中枢神经系统的任何部分都可能受累于这种疾病,因此需要进行仔细评估以排除可治疗的颅内异常。

相似文献

1
Intracranial lipomas, hydrocephalus and other CNS anomalies in oculoauriculo-vertebral dysplasia (Goldenhar-Gorlin syndrome).眼耳椎体发育不良(Goldenhar-Gorlin综合征)中的颅内脂肪瘤、脑积水及其他中枢神经系统异常
Childs Brain. 1984;11(5):285-97. doi: 10.1159/000120189.
2
Imaging of lipoma of the corpus callosum and intracranial dermoids in the Goldenhar syndrome.Goldenhar综合征中胼胝体脂肪瘤和颅内皮样囊肿的影像学表现
Pediatr Radiol. 1988;18(1):72-3. doi: 10.1007/BF02395767.
3
[Hydrocephalus and the Goldenhar syndrome].[脑积水与Goldenhar综合征]
J Genet Hum. 1987 Aug;35(4):275-7.
4
Encephalocele (cerebellocele) in the Goldenhar-Gorlin syndrome.Goldenhar-Gorlin综合征中的脑膨出(小脑膨出)。
Eur J Pediatr. 1983 Apr;140(2):137-8. doi: 10.1007/BF00441665.
5
[Lipoma of the corpus callosum as a constituent of Goldenhar syndrome].[胼胝体脂肪瘤作为Goldenhar综合征的一个组成部分]
Monatsschr Kinderheilkd. 1986 Aug;134(8):541-3.
6
Goldenhar association and cranial defects.戈尔登哈综合征与颅骨缺损
Am J Med Genet. 1983 May;15(1):177-9. doi: 10.1002/ajmg.1320150130.
7
[An infant case of Goldenhar syndrome associated with intracranial lesions].[1例与颅内病变相关的Goldenhar综合征婴儿病例]
No To Hattatsu. 1985 May;17(3):251-5.
8
Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome).面耳椎序列征(Goldenhar-Gorlin综合征)的眼部表现。
Am J Ophthalmol. 1985 Oct 15;100(4):555-9. doi: 10.1016/0002-9394(85)90681-6.
9
[Difficulty in tracheal intubation in a case of Goldenhar-Gorlin syndrome].[一例Goldenhar-Gorlin综合征患者的气管插管困难]
Rev Esp Anestesiol Reanim. 1989 Nov-Dec;36(6):364.
10
Tracheo-oesophageal anomalies in the Goldenhar anomalad.Goldenhar综合征中的气管食管异常
J Med Genet. 1985 Apr;22(2):149-50. doi: 10.1136/jmg.22.2.149.

引用本文的文献

1
Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement.眼-耳-脊椎综合征:超越第一和第二鳃弓受累范围
Neuroradiology. 2017 Mar;59(3):305-316. doi: 10.1007/s00234-017-1795-1. Epub 2017 Mar 1.
2
Goldenhar syndrome with rare associations.伴有罕见关联的Goldenhar综合征。
Indian J Pediatr. 2000 Mar;67(3):231-3. doi: 10.1007/BF02723669.
3
Syringohydromyelia as a complication of Goldenhar syndrome.
Childs Nerv Syst. 1995 Dec;11(12):708-11. doi: 10.1007/BF00262236.
4
Goldenhar, Möbius and hypoglossia-hypodactyly anomalies in a patient: syndrome or association?一名患者出现的Goldenhar、Möbius及舌下神经-指趾减少异常:综合征还是关联?
Eur J Pediatr. 1996 May;155(5):385-9. doi: 10.1007/BF01955267.
5
'Inside-out', back-to-front: a model for clinical population genetic screening.由外而内,本末倒置:一种临床群体基因筛查模型
J Med Genet. 1993 Jul;30(7):580-2. doi: 10.1136/jmg.30.7.580.
6
Goldenhar syndrome and overlapping dysplasias, in vitro fertilisation and ovopathy.戈尔登哈综合征及重叠发育异常、体外受精与卵巢病
J Med Genet. 1987 Oct;24(10):616-20. doi: 10.1136/jmg.24.10.616.
7
Imaging of lipoma of the corpus callosum and intracranial dermoids in the Goldenhar syndrome.Goldenhar综合征中胼胝体脂肪瘤和颅内皮样囊肿的影像学表现
Pediatr Radiol. 1988;18(1):72-3. doi: 10.1007/BF02395767.
8
Oculoauriculovertebral spectrum and cerebral anomalies.眼耳脊椎综合征与脑异常
J Med Genet. 1992 May;29(5):326-31. doi: 10.1136/jmg.29.5.326.