title: Joubert syndrome with atrial septal defect and persistent left superior vena cava.
abstract: Joubert syndrome is a rare disorder characterized by hypotonia, ataxia, episodic hyperpnoea, psychomotor delay, abnormal ocular movements, and molar tooth sign on magnetic resonance imaging (MRI). This syndrome is inherited as an autosomal recessive trait, but the molecular basis and specific chromosomal locus have not yet been identified. MRI features are the most important diagnostic criteria. Molar tooth sign was previously described in Joubert syndrome and was found in 85% of patients with Joubert syndrome. Many authors now claim that this finding can be present in other syndromes, including Dekaban-Arima, Senior-Löken, COACH, and Varadi-Papp. We present a 7-month-old girl with Joubert syndrome in whom MRI showed the typical features of this condition. She also had polydactyly, atrial septal defect, and persistent left superior vena cava.
authors.affiliation: Department of Radiology, Ondokuz Mayis University Faculty of Medicine, Samsun, Turkey. muzafel@yahoo.com.tr
authors.forename: Muzaffer
authors.initials: M
authors.lastname: Elmali
authors.forename: Zafer
authors.initials: Z
authors.lastname: Ozmen
authors.forename: Meltem
authors.initials: M
authors.lastname: Ceyhun
authors.forename: Onur
authors.initials: O
authors.lastname: Tokatlioğlu
authors.forename: Lütfi
authors.initials: L
authors.lastname: Incesu
authors.forename: Bariş
authors.initials: B
authors.lastname: Diren
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D018810:Magnetic Resonance Angiography; D017689:Polydactyly / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome; D014683:Vena Cava, Superior / Q000473:pathology