Research & Literature

Molecular Biology of Pediatric Hydrocephalus and Hydrocephalus-related Diseases.

Yamasaki M, Kanemura Y

Neurologia medico-chirurgica 2015; (55(8)):640-6 doi:10.2176/nmc.ra.2015-0075.

Delayed rotation of the cerebellar vermis: a pitfall in early second-trimester fetal magnetic resonance imaging.

Pinto J, Paladini D, Severino M, et al.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2016; (48(1)):121-124 doi:10.1002/uog.15782.

Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.

Haldipur P, Dang D, Aldinger KA, et al.

eLife 2017; (6()).

De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome.

Ramineni A, Coman D

Child neurology open 2016; (3()):2329048X16666362 doi:10.1177/2329048X16666362.

Value of Fetal MRI in the Era of Fetal Therapy for Management of Abnormalities Involving the Chest, Abdomen, or Pelvis.

Snyder E, Baschat A, Huisman TAGM, Tekes A

AJR. American journal of roentgenology 2018; (210(5)):998-1009 doi:10.2214/AJR.17.18948.

Dandy-Walker malformation and syringomyelia: a rare association.

Baro V, Manara R, Denaro L, d'Avella D

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2018; (34(7)):1401-1406 doi:10.1007/s00381-018-3773-2.

[Dandy-Walker malformation].

Reith W, Haussmann A

Der Radiologe 2018; (58(7)):629-635 doi:10.1007/s00117-018-0403-7.

Relationship between the location of the ventricular catheter tip and the ventriculoperitoneal shunt malfunction.

Dobran M, Nasi D, Mancini F, et al.

Clinical neurology and neurosurgery 2018; (175()):50-53 doi:10.1016/j.clineuro.2018.10.006.

A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation.

Iida A, Takeshita E, Kosugi S, et al.

Human genome variation 2019; (6()):1 doi:10.1038/s41439-018-0032-8.

Neurocognitive profile of a man with Dandy-Walker malformation: Evidence of subtle cerebellar cognitive affective syndrome.

Belser-Ehrlich J, Adrian Lafo J, Mangal P, et al.

The Clinical neuropsychologist 2020; (34(3)):591-610 doi:10.1080/13854046.2019.1569724.

Outcome Analysis of Patients of Congenital Hydrocephalus with Ventriculoperitoneal Shunt at a Tertiary Care Hospital in North India.

Bawa M, Dash V, Mahalik S, Rao KLN

Pediatric neurosurgery 2019; (54(4)):233-236 doi:10.1159/000501018.

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study.

Santoro M, Coi A, Barišić I, et al.

Neuroepidemiology 2019; (53(3-4)):169-179 doi:10.1159/000501238.

Clinical Indicators of Pediatric Shunt Malfunction: A Population-Based Study From the Nationwide Emergency Department Sample.

Razmara A, Jackson EM

Pediatric emergency care 2021; (37(11)):e764-e766 doi:10.1097/PEC.0000000000001862.

[Dandy-Walker malformation. The CRIT protocol. A propos of a case].

Rojas Martínez K, Neri Gámez S, Díaz Gómez A

Rehabilitacion 2019; (53(3)):211-213 doi:10.1016/j.rh.2018.09.002.

Redefining the Etiologic Landscape of Cerebellar Malformations.

Aldinger KA, Timms AE, Thomson Z, et al.

American journal of human genetics 2019; (105(3)):606-615 doi:10.1016/j.ajhg.2019.07.019.

Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present.

Ciaccio C, Pantaleoni C, Bulgheroni S, et al.

Cerebellum (London, England) 2020; (19(5)):629-635 doi:10.1007/s12311-020-01145-3.

Real-Life Diagnostic Accuracy of MRI in Prenatal Diagnosis.

Recio Rodríguez M, Andreu-Vázquez C, Thuissard-Vasallo IJ, et al.

Radiology research and practice 2020; (2020()):4085349 doi:10.1155/2020/4085349.

Diagnostic modalities to determine ventriculoperitoneal shunt malfunction: A systematic review and meta-analysis.

Jayanth A, Benabbas R, Chao J, Sinert R

The American journal of emergency medicine 2021; (39()):180-189 doi:10.1016/j.ajem.2020.09.024.

Taenia-tela choroidea complex and choroid plexus location help distinguish Dandy-Walker malformation and Blake pouch cysts.

Whitehead MT, Vezina G, Schlatterer SD, et al.

Pediatric radiology 2021; (51(8)):1457-1470 doi:10.1007/s00247-021-04991-3.

Prenatal diagnosis of the Dandy-Walker malformation associated with partial trisomy 12p and distal 15q deletion.

Sun Y, Zhang N, Tian H, et al.

Journal of genetics 2021; (100()).

Evaluation of Posterior Fossa Biometric Measurements on Fetal MRI in the Evaluation of Dandy-Walker Continuum.

Nagaraj UD, Kline-Fath BM, Horn PS, Venkatesan C

AJNR. American journal of neuroradiology 2021; (42(9)):1716-1721 doi:10.3174/ajnr.A7215.

Trigeminal neuralgia caused by Dandy-walker malformation: A case report and systematic review of the literature.

Musa J, Rahman M, Guy A, et al.

Radiology case reports 2021; (16(10)):3084-3089 doi:10.1016/j.radcr.2021.07.049.

Short- and Long-Term Outcomes of Prenatally Diagnosed Dandy-Walker Malformation, Vermian Hypoplasia, and Blake Pouch Cyst.

Venkatesan C, Kline-Fath B, Horn PS, et al.

Journal of child neurology 2021; (36(12)):1111-1119 doi:10.1177/08830738211049115.

Ocular manifestations in a patient with Dandy-Walker malformation: A case report.

Qurban Q, Kamil Z, Tebha SS, et al.

Radiology case reports 2022; (17(3)):812-815 doi:10.1016/j.radcr.2021.12.027.

Regional brain development in fetuses with Dandy-Walker malformation: A volumetric fetal brain magnetic resonance imaging study.

Akiyama S, Madan N, Graham G, et al.

PloS one 2022; (17(2)):e0263535 doi:10.1371/journal.pone.0263535.

Dandy-Walker malformation and variants: clinical features and associated anomalies in 28 affected children-a single retrospective study and a review of the literature.

Di Nora A, Costanza G, Pizzo F, et al.

Acta neurologica Belgica 2023; (123(3)):903-909 doi:10.1007/s13760-022-02059-z.

Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.

Whitehead MT, Barkovich MJ, Sidpra J, et al.

AJNR. American journal of neuroradiology 2022; (43(10)):1488-1493 doi:10.3174/ajnr.A7659.

Symptoms of Cerebrospinal Shunt Malfunction in Young Children: A National Caregiver Survey.

Dorner RA, Lemmon ME, Vazifedan T, et al.

Child neurology open 2023; (10()):2329048X231153513 doi:10.1177/2329048X231153513.

The Management of Hydrocephalus in Midline Posterior Fossa Cystic Collections: Surgical Outcome From a Retrospective Single-Center Case Series of 54 Consecutive Pediatric Patients.

Guida L, Benichi S, Bourgeois M, et al.

Neurosurgery 2023; (93(3)):576-585 doi:10.1227/neu.0000000000002450.

Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.

Alves CAPF, Sidpra J, Manteghinejad A, et al.

AJNR. American journal of neuroradiology 2023; (44(10)):1201-1207 doi:10.3174/ajnr.A7967.

Unveiling Dandy-Walker syndrome: A surprising twist in the tale of acute hydrocephalus and Down syndrome child.

Fahed E, Msheik A, Yazbeck M, et al.

eNeurologicalSci 2023; (33()):100480 doi:10.1016/j.ensci.2023.100480.

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

Blayney GV, Laffan E, Jacob PA, et al.

Prenatal diagnosis 2024; (44(4)):422-431 doi:10.1002/pd.6466.

Speech and Language Delays Associated With New-Onset Seizures Revealing Dandy-Walker Variant.

Moudaffar S, Arraji M, Aabbassi B, et al.

Cureus 2024; (16(1)):e52802 doi:10.7759/cureus.52802.

Clinical and socioeconomic predictors of shunt malfunction in the pediatric emergency department.

Lehner KR, Alawneh RJ, Lee RP, et al.

Journal of neurosurgery. Pediatrics 2024; (34(1)):75-83 doi:10.3171/2024.1.PEDS23489.

Fetal and neonatal outcomes of posterior fossa anomalies: a retrospective cohort study.

Alsehli H, Alshahrani SM, Alzahrani S, et al.

Scientific reports 2024; (14(1)):8411 doi:10.1038/s41598-024-59163-8.

Concurrent Dandy-Walker malformation and persistent fetal vasculature: A case report.

Nisa F, Nisa H, Nadeem A, Anwer M

International journal of surgery case reports 2024; (123()):110270 doi:10.1016/j.ijscr.2024.110270.

Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.

Luo C, Wen E, Liu Y, et al.

Molecular genetics & genomic medicine 2024; (12(10)):e70016 doi:10.1002/mgg3.70016.

Loss of tissue-type plasminogen activator causes multiple developmental anomalies.

Uguen K, Frey T, Muthaffar O, et al.

Brain communications 2024; (6(6)):fcae408 doi:10.1093/braincomms/fcae408.

Infant with Known Dandy-Walker Malformation and Poor Feeding Found to Have Additional Diagnosis.

Lin JQ, Cooke A, Townley N

AJP reports 2025; (15(2)):e43-e46 doi:10.1055/a-2562-1814.

Utility of Biometric Measurements from Fetal Magnetic Resonance Imaging for Improved Antenatal Diagnosis of Dandy-Walker Spectrum Posterior Fossa Lesions.

Bowker RM, Marathu KK, Pharel M, et al.

Diagnostics (Basel, Switzerland) 2025; (15(10)) doi:10.3390/diagnostics15101295.

Joubert Plus syndrome in a child with Dandy-Walker malformation and occipital cephalocele: A case report.

Mehari TH, Tessema BM, Gebrekidan RG

Radiology case reports 2025; (20(9)):4701-4705 doi:10.1016/j.radcr.2025.05.103.

Dandy-Walker spectrum with bilateral optic atrophy and seizure disorder: a case report and literature review.

Shah BK, Bhattarai K

Annals of medicine and surgery (2012) 2025; (87(8)):5283-5287 doi:10.1097/MS9.0000000000003554.

Dandy-Walker Syndrome and Congenital Heart Defects in a Child: A Case Report.

Al-Bitar A, Morteza MH

Radiology case reports 2025; (20(11)):5488-5496 doi:10.1016/j.radcr.2025.07.018.

Diagnosing Cerebrospinal Fluid Shunt Failure: Systematic Review and Meta-Analysis of Noninvasive and Minimally Invasive Tests in Children and Adults.

Koschnitzky JE, Shramuk ME, Kudlinski MV, et al.

Neurosurgery 2026; (98(6)):1206-1220 doi:10.1227/neu.0000000000003755.

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.

Birnbaum R, Slovik M, Zenvirt S, et al.

Clinical genetics 2026; (109(3)):529-538 doi:10.1111/cge.70079.

Diagnostic Impact of Fetal MRI in 556 Fetuses: Where It Adds Value Beyond Ultrasound.

Emiralioğlu Çakır Z, Golbasi H, Torun R, et al.

Journal of clinical medicine 2025; (14(19)) doi:10.3390/jcm14196690.

Dandy Walker malformation with occipital encephalocele - personal series and updated literature review.

Datta A, Vardhan MV, Srivastava C, Ojha BK

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2025; (41(1)):417 doi:10.1007/s00381-025-07061-3.

Predicting Failure of Ventricular Shunts in the Emergency Department: The SMaRT (Shunt Malfunction and Revision Triage) Score.

Lehner KR, Kalluri AL, Jiang K, et al.

The Journal of pediatrics 2026; (290()):114969 doi:10.1016/j.jpeds.2025.114969.

Dandy-Walker syndrome with hydrocephalus undergoing VPS or CPS? A single-center retrospective study.

Liu Z, Liu B, Weng C, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2026; (42(1)):22 doi:10.1007/s00381-025-07048-0.

Posterior Fossa Malformations in a Cohort of 116 Fetuses: A Retrospective Analysis of Imaging Characteristics, Postnatal Imaging Concordance, Pregnancy Outcomes and Yield of Genetic Testing.

Malta M, Fortin O, Badner B, et al.

Cerebellum (London, England) 2026; (25(3)).