OBJECTIVE: The study aims to demonstrate the value of the 'tail sign' in the assessment of Dandy-Walker malformation. METHODS: A total of 31 fetal magnetic resonance imaging (MRI), performed before 24 weeks of gestation after second-line ultrasound examination between May 2013 and September 2014, were examined retrospectively. All MRI examinations were performed using a 1.5 Tesla magnet without maternal sedation. RESULTS: Magnetic resonance imaging diagnosed 15/31 cases of Dandy-Walker malformation, 6/31 of vermian partial caudal agenesis, 2/31 of vermian hypoplasia, 4/31 of vermian malrotation, 2/31 of Walker-Warburg syndrome, 1/31 of Blake pouch cyst and 1/31 of rhombencephalosynapsis. All data were compared with fetopsy results, fetal MRI after the 30th week or postnatal MRI; the follow-up depended on the maternal decision to terminate or continue pregnancy. In our review study, we found the presence of the 'tail sign'; this sign was visible only in Dandy-Walker malformation and Walker-Warburg syndrome. CONCLUSION: The 'tail sign' could be helpful in the difficult differential diagnosis between Dandy-Walker, vermian malrotation, vermian hypoplasia and vermian partial agenesis.
OBJECTIVE: The study aims to demonstrate the value of the 'tail sign' in the assessment of Dandy-Walker malformation. METHODS: A total of 31 fetal magnetic resonance imaging (MRI), performed before 24 weeks of gestation after second-line ultrasound examination between May 2013 and September 2014, were examined retrospectively. All MRI examinations were performed using a 1.5 Tesla magnet without maternal sedation. RESULTS: Magnetic resonance imaging diagnosed 15/31 cases of Dandy-Walker malformation, 6/31 of vermian partial caudal agenesis, 2/31 of vermian hypoplasia, 4/31 of vermian malrotation, 2/31 of Walker-Warburg syndrome, 1/31 of Blake pouch cyst and 1/31 of rhombencephalosynapsis. All data were compared with fetopsy results, fetal MRI after the 30th week or postnatal MRI; the follow-up depended on the maternal decision to terminate or continue pregnancy. In our review study, we found the presence of the 'tail sign'; this sign was visible only in Dandy-Walker malformation and Walker-Warburg syndrome. CONCLUSION: The 'tail sign' could be helpful in the difficult differential diagnosis between Dandy-Walker, vermian malrotation, vermian hypoplasia and vermian partial agenesis.
Authors: Kimberly A Aldinger; Andrew E Timms; Zachary Thomson; Ghayda M Mirzaa; James T Bennett; Alexander B Rosenberg; Charles M Roco; Matthew Hirano; Fatima Abidi; Parthiv Haldipur; Chi V Cheng; Sarah Collins; Kaylee Park; Jordan Zeiger; Lynne M Overmann; Fowzan S Alkuraya; Leslie G Biesecker; Stephen R Braddock; Sara Cathey; Megan T Cho; Brian H Y Chung; David B Everman; Yuri A Zarate; Julie R Jones; Charles E Schwartz; Amy Goldstein; Robert J Hopkin; Ian D Krantz; Roger L Ladda; Kathleen A Leppig; Barbara C McGillivray; Susan Sell; Katherine Wusik; Joseph G Gleeson; Deborah A Nickerson; Michael J Bamshad; Dianne Gerrelli; Steven N Lisgo; Georg Seelig; Gisele E Ishak; A James Barkovich; Cynthia J Curry; Ian A Glass; Kathleen J Millen; Dan Doherty; William B Dobyns Journal: Am J Hum Genet Date: 2019-08-29 Impact factor: 11.025
Authors: M T Whitehead; M J Barkovich; J Sidpra; C A Alves; D M Mirsky; Ö Öztekin; D Bhattacharya; L T Lucato; S Sudhakar; A Taranath; S Andronikou; S P Prabhu; K A Aldinger; P Haldipur; K J Millen; A J Barkovich; E Boltshauser; W B Dobyns; K Mankad Journal: AJNR Am J Neuroradiol Date: 2022-09-22 Impact factor: 4.966
Authors: Parthiv Haldipur; Derek Dang; Kimberly A Aldinger; Olivia K Janson; Fabien Guimiot; Homa Adle-Biasette; William B Dobyns; Joseph R Siebert; Rosa Russo; Kathleen J Millen Journal: Elife Date: 2017-01-16 Impact factor: 8.140
Authors: G O Dovjak; M C Diogo; P C Brugger; G M Gruber; M Weber; S Glatter; R Seidl; D Bettelheim; D Prayer; G J Kasprian Journal: Ultrasound Obstet Gynecol Date: 2020-07 Impact factor: 7.299
Authors: Parthiv Haldipur; Kimberly A Aldinger; Silvia Bernardo; Mei Deng; Andrew E Timms; Lynne M Overman; Conrad Winter; Steven N Lisgo; Ferechte Razavi; Evelina Silvestri; Lucia Manganaro; Homa Adle-Biassette; Fabien Guimiot; Rosa Russo; Debora Kidron; Patrick R Hof; Dianne Gerrelli; Susan J Lindsay; William B Dobyns; Ian A Glass; Paula Alexandre; Kathleen J Millen Journal: Science Date: 2019-10-17 Impact factor: 47.728
Authors: Kaylee B Park; Teresa Chapman; Kimberly A Aldinger; Ghayda M Mirzaa; Jordan Zeiger; Anita Beck; Ian A Glass; Robert F Hevner; Anna C Jansen; Desiree A Marshall; Renske Oegema; Elena Parrini; Russell P Saneto; Cynthia J Curry; Judith G Hall; Renzo Guerrini; Richard J Leventer; William B Dobyns Journal: Am J Med Genet A Date: 2020-11-18 Impact factor: 2.802