Case 25: Joubert Syndrome
2000; Radiological Society of North America; Volume: 216; Issue: 2 Linguagem: Inglês
10.1148/radiology.216.2.r00au34379
ISSN1527-1315
AutoresEdwin J.R. van Beek, Charles B.L.M. Majoie,
Tópico(s)Hedgehog Signaling Pathway Studies
ResumoHomeRadiologyVol. 216, No. 2 PreviousNext Diagnosis PleaseCase 25: Joubert SyndromeEdwin J. R. van Beek, Charles B. L. M. MajoieEdwin J. R. van Beek, Charles B. L. M. MajoieAuthor Affiliations1From the Department of Radiology, Academic Medical Center, G1-242, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands. Received December 9, 1998; revision requested February 15, 1999; revision received April 20; accepted June 28. Address correspondence toC.B.L.M.M.Edwin J. R. van BeekCharles B. L. M. MajoiePublished Online:Aug 1 2000https://doi.org/10.1148/radiology.216.2.r00au34379MoreSectionsFull textPDF ToolsImage ViewerAdd to favoritesCiteTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinked In References 1 Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969; 19:813-825. Crossref, Medline, Google Scholar2 Boltshauser E, Isler W. Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropaediatrie 1977; 8:57-66. Crossref, Medline, Google Scholar3 Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet 1992; 43:726-731. Crossref, Medline, Google Scholar4 Maria BL, Hoang KB, Tusa RJ, et al. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997; 12:423-430. Crossref, Medline, Google Scholar5 King MD, Dudgeon J, Stephenson JB. Joubert’s syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation. Arch Dis Child 1984; 59:709-718. Crossref, Medline, Google Scholar6 Kendall B, Kingsley D, Lambert SR, Taylor D, Finn P. Joubert syndrome: a clinico-radiological study. Neuroradiology 1990; 31:502-506. Crossref, Medline, Google Scholar7 Steinlin M, Schmid M, Landau K, Boltshauser E. Follow-up in children with Joubert’s syndrome. Neuropediatrics 1997; 28:204-211. Crossref, Medline, Google Scholar8 Lindhout D, Barth PG, Valk J, Boen-Tan TN. The Joubert syndrome associated with bilateral chorioretinal coloboma. Eur J Pediatr 1980; 134:173-176. Crossref, Medline, Google Scholar9 Ivarsson SA, Bjerre I, Brun A, Ljungberg O, Maly E, Taylor I. Joubert syndrome associated with Leber amaurosis and multicystic kidneys. Am J Med Genet 1993; 45:542-547. Crossref, Medline, Google Scholar10 Hildebrandt F, Nothwang HG, Vossmerbaumer U, et al. Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. Pediatr Nephrol 1998; 12:16-19. Crossref, Medline, Google Scholar11 Adamsbaum C, Moreau V, Bulteau C, Burstyn J, Lair Milan F, Kalifa G. Vermian agenesis without posterior fossa cyst. Pediatr Radiol 1994; 24:543-546. Crossref, Medline, Google Scholar12 Keogan MT, DeAtkine AB, Hertzberg BS. Cerebellar vermian defects: antenatal sonographic appearance and clinical significance. J Ultrasound Med 1994; 13:607-611. Crossref, Medline, Google Scholar13 Barkovich AJ. Pediatric neuroimaging 2nd ed. New York, NY: Raven, 1995; 249-257. Google Scholar14 Habre W, Sims C, D’Souze M. Anaesthetic management of children with Joubert syndrome. Paediatric Anaesth 1997; 7:251-253. Crossref, Medline, Google ScholarArticle HistoryPublished in print: Aug 2000 FiguresReferencesRelatedDetailsCited ByNeonatal Joubert Syndrome With Renal Involvement and Respiratory DistressBeena DAgarwal, SatyaMohapatra, SumedhaSingh, VijayGuduru, Soumya RNayak2022 | CureusDiagnosing Joubert Syndrome in Two Adult Siblings: A Very Rare Case ReportPankaj KKannauje, VinayPandit, PreetamWasnik, Saroj KPati, NandithaVenkatesan2022 | CureusA novel variant in C5ORF42 gene is associated with Joubert syndromeRajabMardani, EskandarTaghizadeh, ForoughTaheri, MohammadaliRaeisi, Mohammad RezaKarimzadeh, DaryoushRostami, Gordon A.Ferns, MajidGhayour-Mobarhan2020 | Molecular Biology Reports, Vol. 47, No. 5Pictorial Essay: Classic Signs in Pediatric NeuroradiologyMadhurimaSharma, DineshSood, Narvir S.Chauhan, Rajanna H.Manjuswamy, Preeti T.Kapila2020 | Current Pediatric Reviews, Vol. 16, No. 1Diagnostic Imaging: Pediatrics2017WITHDRAWN: Joubert syndrome in siblings: A rare case report with literature reviewVenkatesh Murthy DammaningalaVenkataramaiah, Alka Rani TPatil, H.S.Vinayaka2017 | Apollo MedicineJoubert Plus Syndrome with Self-Mutilation: A Case reportYousr NMowafy, Nadia AWahba, Aly ASharaf2017 | Journal of Clinical Pediatric Dentistry, Vol. 41, No. 1Lingual Frenectomy in Joubert SyndromeVivekGurjar, MinalGurjar, ChannaveerPattanshetti, BanashreeSankeshwari2017 | The Journal of Contemporary Dental Practice, Vol. 18, No. 8Orocraniofacial findings of a Pediatric Patient with Joubert SyndromeMaheshVerma, Anju SRajwar2016 | International Journal of Clinical Pediatric Dentistry, Vol. 9, No. 4Classical Signs and Appearances in Pediatric Neuroradiology: A Pictorial ReviewHulusiEgilmez2014 | Polish Journal of Radiology, Vol. 79Radiopaedia.orgMostafaEl-Feky, MaximeSt-Amant2012Síndrome de Joubert: hallazgos en resonancia magnética convencional y tensor de difusiónA.Burguete Moriones, T.Cabada Giadás, M.C.Bacaicoa Saralegui, F.J.Annicherico Sánchez2012 | Radiología, Vol. 54, No. 3Sinais em neurorradiologia: parte 2Filipe RamosBarra, Fabrício GuimarãesGonçalves, Valter de LimaMatos, Cássio LemosJovem, José Luis Furtado deMendonça, Lázaro Luís Faria doAmaral, RaqueldelCarpio-O'Donovan2011 | Radiologia Brasileira, Vol. 44, No. 2Radiopaedia.orgAmmarHaouimi, FrankGaillard2010MRI findings in Joubert syndromeSuhil A.Choh, Naseer A.Choh, Shabir A.Bhat, MajidJehangir2009 | The Indian Journal of Pediatrics, Vol. 76, No. 2Radiopaedia.orgYahyaBaba, YurangaWeerakkody2009Ritscher–Schinzel cranio-cerebello-cardiac syndromeT EHerman, M JSiegel2008 | Journal of Perinatology, Vol. 28, No. 10IMAGING DIAGNOSIS?CEREBELLAR VERMIS HYPOPLASIA IN A MINIATURE SCHNAUZERHOJUNGCHOI, SANGKYUKANG, SEONGMOKJEONG, SUNGWHANCHO, KICHANGLEE, KIDONGEOM, HEECHUNLEE, DONGWOOCHANG, JUNGHEEYOON, YOUNGWONLEE2007 | Veterinary Radiology & Ultrasound, Vol. 48, No. 2A 7-year-old female with hypotonia and atakiaJTynan, PSzkup2005 | The British Journal of Radiology, Vol. 78, No. 933The Molar Tooth Sign1Peter McGraw, 1 December 2003 | Radiology, Vol. 229, No. 3Recommended Articles RSNA Education Exhibits RSNA Case Collection Vol. 216, No. 2 Metrics Altmetric Score PDF download
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