Joubert syndrome with atrial septal defect and persistent left superior vena cava

Diagnostic and Interventional Radiology

Volumn 13, Issue 2, 2007, Pages 94-96

  Elmali, Muzaffer ^a   Özmen, Zafer ^b   Ceyhun, Meltem ^b   Tokatlioǧlu, Onur ^b   Incesu, Lütfi ^b   Diren, Bariş ^b  

^a ONDOKUZ MAYIS UNIVERSITY   (Turkey)

^b NONE

Author keywords

Cerebellar hypoplasia; Joubert syndrome; Magnetic resonance imaging; Molar tooth sign

Indexed keywords

ARTICLE; BRAIN SCINTISCANNING; CARDIOMEGALY; CASE REPORT; CLINICAL FEATURE; CONGENITAL BLOOD VESSEL MALFORMATION; DIFFERENTIAL DIAGNOSIS; ECHOCARDIOGRAPHY; FEMALE; HEART ATRIUM SEPTUM DEFECT; HUMAN; INFANT; JOUBERT SYNDROME; KARYOTYPE 46,XX; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; POLYDACTYLY; PULMONARY ARTERY MALFORMATION; SUPERIOR CAVA VEIN; THORAX RADIOGRAPHY;

ABNORMALITIES, MULTIPLE; BRAIN; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE ANGIOGRAPHY; POLYDACTYLY; SYNDROME; VENA CAVA, SUPERIOR;

EID: 34249984174     PISSN: 13053825     EISSN: 13053612     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. Zamponi N, Rossi B, Messori A, Polonara G, Regnicolo L, Cardinalli C. Joubert syndrome with associated corpus callosum agenesis. Eur J Paediatr Neurol 2002; 6:63-66.
2. Kumandas S, Akcakus M, Coskun A, Gumus H. Joubert syndrome: review and report of seven new cases. Eur J Neurol 2004; 11:505-510.
3. Van Beek EJ, Majoie CB. Case 25: Joubert syndrome. Radiology 2000; 216:379-382.
4. 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.
5. Quisling RG, Barkovich AJ, Maria BL. Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome. J Child Neurol 1999; 14:628-635.
6. Gleeson JG, Keler LC, Parisi MA et al. Molar tooth sign of the midbrain-hind-brain junction: occurence in multiple distinct syndromes. Am J Med Genet 2004; 125:125-134.
7. Graw PM. The molar tooth sign. Radiology 2003; 229:671-672.