Page 82 - JCTR-11-2
P. 82

Journal of Clinical and
            Translational Research                                                 Fetal posterior fossa imaging findings



               2021;128(2):366-374.                            54.  Khaladkar SM, Jhala NA, Shukla A, Shah R, Durgi EC.
                                                                  Rhombencephalosynapsis: A rare hindbrain malformation.
               doi: 10.1111/1471-0528.16496
                                                                  Cureus. 2024;16(7):e65400.
            43.  Khalaveh F, Seidl R, Czech T,  et al. Myelomeningocele-     doi: 10.7759/cureus.65400
               Chiari II malformation-neurological predictability based
               on fetal and postnatal magnetic resonance imaging. Prenat   55.  Stone SS, Warf BC. Combined endoscopic third
               Diagn. 2021;41(8):922-932.                         ventriculostomy and choroid plexus cauterization as primary
                                                                  treatment for infant hydrocephalus: A  prospective North
               doi: 10.1002/pd.5987                               American series. J Neurosurg Pediatr. 2014;14(5):439-446.
            44.  Talamonti G, Marcati E, Mastino L, Meccariello G, Picano M,      doi: 10.3171/2014.7.PEDS14152
               D’Aliberti G. Surgical management of Chiari malformation
               type II. Childs Nerv Syst. 2020;36(8):1621-1634.  56.  Adle-Biassette H, Saugier-Veber P, Fallet-Bianco C,  et  al.
                                                                  Neuropathological review of 138 cases genetically tested for
               doi: 10.1007/s00381-020-04675-7                    X-linked hydrocephalus: Evidence for closely related clinical
            45.  Osborn AG. Osborn’s Brain: Imaging, Pathology, and   entities of unknown molecular bases.  Acta Neuropathol.
               Anatomy. 2  ed. Netherlands: Elsevier; 2018. p. 1298.  2013;126(3):427-442.
                        nd
            46.  Thompson DN. Postnatal management and outcome      doi: 10.1007/s00401-013-1146-1
               for neural tube defects including spina bifida and   57.  Emery SP, Narayanan S, Greene S. Fetal aqueductal
               encephalocoeles. Prenat Diagn. 2009;29(4):412-419.  stenosis: Prenatal diagnosis and intervention. Prenat Diagn.
               doi: 10.1002/pd.2199                               2020;40(1):58-65.
            47.  Kasprian GJ, Paldino MJ, Mehollin-Ray AR, et al. Prenatal      doi: 10.1002/pd.5527
               imaging  of  occipital  encephaloceles.  Fetal Diagn Ther.   58.  Peiro JL, Fabbro MD. Fetal therapy for congenital
               2015;37(3):241-248.                                hydrocephalus-where we came from and where we are
               doi: 10.1159/000366159                             going. Childs Nerv Syst. 2020;36(8):1697-1712.
            48.  Markovic  I, Bosnjakovic  P, Milenkovic  Z. Occipital      doi: 10.1007/s00381-020-04738-9
               encephalocele: Cause, incidence, neuroimaging and surgical   59.  Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J
               management. Curr Pediatr Rev. 2020;16(3):200-205.  Med. 2011;364(16):1533-1543.
               doi: 10.2174/1573396315666191018161535             doi: 10.1056/NEJMra1010172
            49.  Demaerel P, Morel C, Lagae L, Wilms G. Partial   60.  Surisetti BK, Holla VV, Prasad S, et al. Clinical and imaging
               rhombencephalosynapsis.  AJNR  Am  J  Neuroradiol.   profile of patients with Joubert syndrome.  J  Mov Disord.
               2004;25(1):29-31.                                  2021;14(3):231-235.
            50.  Schell-Apacik CC, Cohen M, Vojta S, et al. Gomez-Lopez-     doi: 10.14802/jmd.21066
               Hernandez   syndrome  (cerebello-trigeminal-dermal  61.  Al-Smair  A,  Younes  S,  Saadeh  A,  Kaoukji  AR,  Jaber  O.
               dysplasia): Description of an additional case and review of   Joubert-Plus syndrome with an atretic cephalocele: A case
               the literature. Eur J Pediatr. 2008;167(1):123-126.  report. Radiol Case Rep. 2022;17(10):3630-3634.
               doi: 10.1007/s00431-007-0478-z                     doi: 10.1016/j.radcr.2022.07.038
            51.  Ishak  GE,  Dempsey  JC,  Shaw  DW,  et  al.   62.  Poretti A, Singhi S, Huisman TA,  et al. Tecto-cerebellar
               Rhombencephalosynapsis: A  hindbrain malformation   dysraphism with occipital encephalocele: Not a distinct
               associated with incomplete separation of midbrain and   disorder, but part of the Joubert syndrome spectrum?
               forebrain, hydrocephalus and a broad spectrum of severity.   Neuropediatrics. 2011;42(4):170-174.
               Brain. 2012;135(Pt 5):1370-1386.
                                                                  doi: 10.1055/s-0031-1287763
               doi: 10.1093/brain/aws065
                                                               63.  Van De Weghe JC, Gomez A, Doherty D. The Joubert-
            52.  Guibaud L. Practical approach to prenatal posterior fossa   Meckel-Nephronophthisis spectrum of ciliopathies.  Annu
               abnormalities using MRI.  Pediatr Radiol. 2004;34(9):   Rev Genomics Hum Genet. 2022;23:301-329.
               700-711.
                                                                  doi: 10.1146/annurev-genom-121321-093528
               doi: 10.1007/s00247-004-1248-y
                                                               64.  Online Mendelian Inheritance in Man.  Pontocerebellar
            53.  Massoud M, Guibaud L. Prenatal imaging of posterior   Hypoplasia  Search  Results. Available from:  https://www.
               fossa disorders: A review. Eur J Paediatr Neurol. 2018;22(6):   omim.org/search?index=entry&search=%22pontocer
               972-988.                                           ebellar+hypoplasia%22 [Last accessed on 2024 Apr  .
                                                                                                       21
               doi: 10.1016/j.ejpn.2018.07.007                 65.  Rüsch CT, Bölsterli BK, Kottke R, Steinfeld R, Boltshauser E.


            Volume 11 Issue 2 (2025)                        76                               doi: 10.36922/jctr.6240
   77   78   79   80   81   82   83   84   85   86   87