Prenatal and Neonatal MR Imaging Findings in Oral-Facial-Digital Syndrome Type VI
Fig 2.
T2-weighted MR imaging at 2 days of age. A, Axial MR image showing hypoplasia of the vermis and both cerebellar hemispheres, the characteristic MTS (thin arrow) with thickened and elongated superior cerebellar peduncles, an abnormally deep interpeduncular fossa, and an HH (thick arrow). B, Sagittal MR image revealing significant hypoplasia of the cerebellar vermis and dysplasia of the remnants of the cerebellar vermis (arrow), an enlarged fourth ventricle and posterior fossa, and an HH (white arrow). In addition, the corpus callosum and the brain stem are hypoplastic, the pituitary stalk is thick, and the interthalamic adhesion is large. C, Coronal MR image demonstrating an HH (arrow), a missing left leaf of the septum pellucidum, a bulky left fornix, and a probably dysplastic cerebral cortex in the left Sylvian fissure.
In this issue
Related Articles
- No related articles found.
Cited By...
- Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
- Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes
- Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome
- Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients
- Interpeduncular Heterotopia in Joubert Syndrome: A Previously Undescribed MR Finding
- Malformations of Cerebral Cortical Development in Oral-Facial-Digital Syndrome Type VI
This article has been cited by the following articles in journals that are participating in Crossref Cited-by Linking.
- Enza Maria Valente, Rasim O. Rosti, Elizabeth Gibbs, Joseph G. GleesonNature Reviews Neurology 2014 10 1
- A. Poretti, T.A.G.M. Huisman, I. Scheer, E. BoltshauserAmerican Journal of Neuroradiology 2011 32 8
- Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H Giles, Colin A Johnson, Martijn A Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Reversade, Elisabeth Steichen-Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St-Onge, Daniel Birnbaum, Shubha R Phadke, Valérie Cormier-Daire, Thibaut Eguether, Gregory J Pazour, Vicente Herranz-Pérez, Jaclyn S Goldstein, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R Leroux, John B Wallingford, Oliver E Blacque, Maxence V Nachury, Tania Attie-Bitach, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-RobinetJournal of Medical Genetics 2017 54 6
- Gordana Juric-Sekhar, Jonathan Adkins, Dan Doherty, Robert F. HevnerActa Neuropathologica 2012 123 5
- Estelle Lopez, Christel Thauvin-Robinet, Bruno Reversade, Nadia El Khartoufi, Louise Devisme, Muriel Holder, Hélène Ansart-Franquet, Magali Avila, Didier Lacombe, Pascale Kleinfinger, Irahara Kaori, Jun-Ichi Takanashi, Martine Le Merrer, Jelena Martinovic, Catherine Noël, Mohammad Shboul, Lena Ho, Yeliz Güven, Ferechté Razavi, Lydie Burglen, Nadège Gigot, Véronique Darmency-Stamboul, Julien Thevenon, Bernard Aral, Hülya Kayserili, Frédéric Huet, Stanislas Lyonnet, Cédric Le Caignec, Brunella Franco, Jean-Baptiste Rivière, Laurence Faivre, Tania Attié-BitachHuman Genetics 2014 133 3
- Julie C. Van De Weghe, Tamara D.S. Rusterholz, Brooke Latour, Megan E. Grout, Kimberly A. Aldinger, Ranad Shaheen, Jennifer C. Dempsey, Sateesh Maddirevula, Yong-Han H. Cheng, Ian G. Phelps, Matthias Gesemann, Himanshu Goel, Ohad S. Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O. Khan, Michael J. Bamshad, Deborah A. Nickerson, Stephan C.F. Neuhauss, William B. Dobyns, Fowzan S. Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan DohertyThe American Journal of Human Genetics 2017 101 1
- Andrea Poretti, Avner Meoded, Andrea Rossi, Charles Raybaud, Thierry A. G. M. HuismanPediatric Radiology 2013 43 1
- Andrea Poretti, Giuseppina Vitiello, Raoul CM Hennekam, Filippo Arrigoni, Enrico Bertini, Renato Borgatti, Francesco Brancati, Stefano D'Arrigo, Francesca Faravelli, Lucio Giordano, Thierry AGM Huisman, Miriam Iannicelli, Gerhard Kluger, Marten Kyllerman, Magnus Landgren, Melissa M Lees, Lorenzo Pinelli, Romina Romaniello, Ianina Scheer, Christoph E Schwarz, Ronen Spiegel, Daniel Tibussek, Enza Maria Valente, Eugen BoltshauserOrphanet Journal of Rare Diseases 2012 7 1
- Sandeep Mittal, Monika Mittal, José Luis Montes, Jean-Pierre Farmer, Frederick AndermannNeurosurgical Focus 2013 34 6
- Andrea Poretti, Joseph Snow, Angela C Summers, Aylin Tekes, Thierry A G M Huisman, Nafi Aygun, Kathryn A Carson, Dan Doherty, Melissa A Parisi, Camilo Toro, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, Andrew R Cullinane, Thierry Vilboux, William A Gahl, Meral Gunay-AygunJournal of Medical Genetics 2017 54 8