Dandy-Walker malformation masking the molar tooth sign: An illustrative case with magnetic resonance imaging follow-up

Journal of Child Neurology

Volumn 25, Issue 11, 2010, Pages 1419-1422

  Sartori, Stefano ^a   Ludwig, Kathrin ^a   Fortuna, Manuela ^a   Marzocchi, Cinzia ^a   Calderone, Milena ^a   Toldo, Irene ^a   Salviati, Leonardo ^a   Laverda, Anna Maria ^a   Tenconi, Romano ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

Dandy Walker malformation; hydrocephalus; Joubert syndrome

Indexed keywords

AGENESIS; ARTICLE; CASE REPORT; CHILD; CHOLESTASIS; COMPUTER ASSISTED TOMOGRAPHY; DANDY WALKER SYNDROME; ELECTRORETINOGRAPHY; EYE EXAMINATION; FOLLOW UP; GAZE PARALYSIS; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; HYPERTRANSAMINASEMIA; JOUBERT SYNDROME; KARYOTYPE; MALE; MASKING; MOLAR TOOTH; NERVE CELL DIFFERENTIATION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POSTERIOR CRANIAL FOSSA TUMOR; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DYSTROPHY; VAGINAL DELIVERY;

CEREBELLAR DISEASES; DANDY-WALKER SYNDROME; EYE ABNORMALITIES; HUMANS; KIDNEY DISEASES, CYSTIC; MAGNETIC RESONANCE IMAGING; MALE; RETINA;

EID: 78650212461     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810370477     Document Type: Article

References (10)

1. Valente EM, Brancati F., Dalla Piccola B. Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet. 2008 ; 51: 1-23.
2. Maria BL, Quisling RG, Rosainz LC, et al. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol. 1999 ; 14: 368-376.
3. Boycott KM, Parboosingh JS, Scott JN, et al. Meckel syndrome in the Hutterite population is actually a Joubert-related cerebellooculo-renal Syndrome. Am J Med Genet. 2007 ; 143A: 1715-1725.
4. Alorainy IA, Sabir S., Seidahmed MZ, et al. Brain stem and cerebellar findings in Joubert syndrome. J Comput Assist Tomogr. 2006 ; 30: 116-121.
5. Tortori-Donati P. Pediatric Neuroradiology Brain. 1st ed. Heidelberg, Germany: Springer Verlag ; 2005.
6. Genel F., Atlihan F., Ozdemir D., Targan S. Development of hydrocefalus in a patient with Joubert syndrome. J Postgrad Med. 2004 ; 50: 153.
7. Aslan H., Ulker V., Gulcan EM, et al. Prenatal diagnosis of Joubert syndrome: a case report. Prenat Diagn. 2002 ; 22: 13-16. (Pubitemid 34146042)
8. Maria BL, Bozorgmanesh A., Kimmel KN, et al. Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker malformation. J Child Neurol. 2001 ; 16: 751-758.
9. Klein O., Pierre-Kahn A., Boddaert N., et al. Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst. 2003 ; 19: 484-489.
10. Parisi MA Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet. 2009 ; 15: 326-340.