Joubert syndrome.
作者信息
Karegowda Lakshmikanth Halegubbi, Shenoy Poonam Mohan, Sripathi Smiti, Varman Mugil
机构信息
Department of Radiodiagnosis, Kasturba Medical College, Manipal, Manipal, Karnataka, India.
出版信息
BMJ Case Rep. 2014 Mar 20;2014:bcr2014203887. doi: 10.1136/bcr-2014-203887.
Abstract
摘要
相似文献
1
Joubert syndrome.
BMJ Case Rep. 2014 Mar 20;2014:bcr2014203887. doi: 10.1136/bcr-2014-203887.
2
An unusual association of classical Joubert syndrome with retrocerebellar arachnoid cyst.
Childs Nerv Syst. 2016 Jul;32(7):1181-2. doi: 10.1007/s00381-016-3099-x. Epub 2016 May 2.
3
Bipolar disorder with intellectual disability in Joubert syndrome: A case report.
Psychiatry Clin Neurosci. 2019 Dec;73(12):761-762. doi: 10.1111/pcn.12937. Epub 2019 Nov 4.
4
Joubert syndrome: the clinical and radiological findings.
J Pak Med Assoc. 2014 Jan;64(1):91-4.
5
Craniovertebral junction abnormality in a case of Joubert syndrome.
Childs Nerv Syst. 2012 Jul;28(7):1109-12. doi: 10.1007/s00381-012-1682-3. Epub 2012 Jan 10.
6
The spectrum of sleep disordered breathing in Joubert Syndrome.
Sleep Med. 2018 Dec;52:177-179. doi: 10.1016/j.sleep.2018.08.016. Epub 2018 Sep 19.
7
Molar tooth sign is not pathognomonic for Joubert syndrome.
Pediatr Neurol. 2013 Dec;49(6):515-6. doi: 10.1016/j.pediatrneurol.2013.08.013. Epub 2013 Oct 10.
8
Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders.
Ultrasound Obstet Gynecol. 2014 Feb;43(2):227-32. doi: 10.1002/uog.12567.
9
Joubert syndrome overlapping with Dandy-Walker malformation.
Genet Couns. 2014;25(1):75-6.
10
Early second-trimester molar tooth sign.
Fetal Diagn Ther. 2014;36(3):259-62. doi: 10.1159/000358594. Epub 2014 May 28.
本文引用的文献
1
Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients.
AJNR Am J Neuroradiol. 2011 Sep;32(8):1459-63. doi: 10.3174/ajnr.A2517. Epub 2011 Jun 16.
2
Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome.
Am J Med Genet A. 2008 Jun 1;146A(11):1389-94. doi: 10.1002/ajmg.a.32282.
3
"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.
J Child Neurol. 1997 Oct;12(7):423-30. doi: 10.1177/088307389701200703.
4
Anaesthetic management of children with Joubert syndrome.
Paediatr Anaesth. 1997;7(3):251-3. doi: 10.1046/j.1460-9592.1997.d01-65.x.
5
Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.
Neurology. 1969 Sep;19(9):813-25. doi: 10.1212/wnl.19.9.813.
6
Joubert syndrome: a clinico-radiological study.
Neuroradiology. 1990;31(6):502-6. doi: 10.1007/BF00340131.
Zotero 插件