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Isolated Dandy-Walker malformation without hydrocephalus

MedGen UID:
1842486
•Concept ID:
C5680778
•
Congenital Abnormality
Synonym: isolated Dandy-Walker malformation without hydrocephalus
 
Monarch Initiative: MONDO:0017111
Orphanet: ORPHA269215

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated Dandy-Walker malformation without hydrocephalus

Professional guidelines

PubMed

Blake's Pouch Cysts and Differential Diagnoses in Prenatal and Postnatal MRI : A Pictorial Review.
Kau T, Marterer R, Kottke R, Birnbacher R, Gellen J, Nagy E, Boltshauser E
Clin Neuroradiol 2020 Sep;30(3):435-445. Epub 2020 Jan 15 doi: 10.1007/s00062-019-00871-4. PMID: 31942658
Diagnosis, treatment, and long-term outcomes of fetal hydrocephalus.
Yamasaki M, Nonaka M, Bamba Y, Teramoto C, Ban C, Pooh RK
Semin Fetal Neonatal Med 2012 Dec;17(6):330-5. Epub 2012 Oct 23 doi: 10.1016/j.siny.2012.07.004. PMID: 23089488
Prenatal neurologic anomalies: sonographic diagnosis and treatment.
De Catte L, De Keersmaeker B, Claus F
Paediatr Drugs 2012 Jun 1;14(3):143-55. doi: 10.2165/11597030-000000000-00000. PMID: 22242843

Recent clinical studies

Etiology

Fetal and neonatal outcomes of posterior fossa anomalies: a retrospective cohort study.
Alsehli H, Alshahrani SM, Alzahrani S, Ababneh F, Alharbi NM, Alarfaj N, Baarmah D
Sci Rep 2024 Apr 10;14(1):8411. doi: 10.1038/s41598-024-59163-8. PMID: 38600369Free PMC Article
Clinical features and genetic analysis of Dandy-Walker syndrome.
Sun Y, Wang T, Zhang N, Zhang P, Li Y
BMC Pregnancy Childbirth 2023 Jan 18;23(1):40. doi: 10.1186/s12884-023-05367-1. PMID: 36653756Free PMC Article
Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal ultrasound imaging (part 1): nomenclature, diagnostic accuracy and associated anomalies.
D'Antonio F, Khalil A, Garel C, Pilu G, Rizzo G, Lerman-Sagie T, Bhide A, Thilaganathan B, Manzoli L, Papageorghiou AT
Ultrasound Obstet Gynecol 2016 Jun;47(6):690-7. Epub 2016 May 10 doi: 10.1002/uog.14900. PMID: 25970099
Dandy-Walker malformation: analysis of 38 cases.
Pascual-Castroviejo I, Velez A, Pascual-Pascual SI, Roche MC, Villarejo F
Childs Nerv Syst 1991 Apr;7(2):88-97. doi: 10.1007/BF00247863. PMID: 1863935
Dandy-Walker syndrome revisited.
Maria BL, Zinreich SJ, Carson BC, Rosenbaum AE, Freeman JM
Pediatr Neurosci 1987;13(1):45-51. doi: 10.1159/000120300. PMID: 3684815

Diagnosis

Fetal and neonatal outcomes of posterior fossa anomalies: a retrospective cohort study.
Alsehli H, Alshahrani SM, Alzahrani S, Ababneh F, Alharbi NM, Alarfaj N, Baarmah D
Sci Rep 2024 Apr 10;14(1):8411. doi: 10.1038/s41598-024-59163-8. PMID: 38600369Free PMC Article
Clinical features and genetic analysis of Dandy-Walker syndrome.
Sun Y, Wang T, Zhang N, Zhang P, Li Y
BMC Pregnancy Childbirth 2023 Jan 18;23(1):40. doi: 10.1186/s12884-023-05367-1. PMID: 36653756Free PMC Article
Blake's Pouch Cysts and Differential Diagnoses in Prenatal and Postnatal MRI : A Pictorial Review.
Kau T, Marterer R, Kottke R, Birnbacher R, Gellen J, Nagy E, Boltshauser E
Clin Neuroradiol 2020 Sep;30(3):435-445. Epub 2020 Jan 15 doi: 10.1007/s00062-019-00871-4. PMID: 31942658
Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study.
Santoro M, Coi A, Barišić I, Garne E, Addor MC, Bergman JEH, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M, Haeusler M, Kinsner-Ovaskainen A, Klungsøyr K, Kurinczuk JJ, Lelong N, Luyt K, Materna-Kiryluk A, Mokoroa O, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Yevtushok L, Pierini A
Neuroepidemiology 2019;53(3-4):169-179. Epub 2019 Jul 12 doi: 10.1159/000501238. PMID: 31302658
Prenatal neurologic anomalies: sonographic diagnosis and treatment.
De Catte L, De Keersmaeker B, Claus F
Paediatr Drugs 2012 Jun 1;14(3):143-55. doi: 10.2165/11597030-000000000-00000. PMID: 22242843

Therapy

Prognosis regarding shunt revision and mortality among hydrocephalus patients below the age of 2 years and the association to patient-related risk factors.
Munch TN, Gørtz S, Hauerberg J, Wohlfahrt J, Melbye M
Acta Neurochir (Wien) 2020 Oct;162(10):2475-2485. Epub 2020 Mar 26 doi: 10.1007/s00701-020-04299-5. PMID: 32219607
Hydrocephalus in children under the age of five from diagnosis to short-/medium-/long-term progression: a retrospective review of 142 children.
Perdaens O, Koerts G, Nassogne MC
Acta Neurol Belg 2018 Mar;118(1):97-103. Epub 2018 Feb 12 doi: 10.1007/s13760-018-0888-x. PMID: 29435827
Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal ultrasound imaging (part 1): nomenclature, diagnostic accuracy and associated anomalies.
D'Antonio F, Khalil A, Garel C, Pilu G, Rizzo G, Lerman-Sagie T, Bhide A, Thilaganathan B, Manzoli L, Papageorghiou AT
Ultrasound Obstet Gynecol 2016 Jun;47(6):690-7. Epub 2016 May 10 doi: 10.1002/uog.14900. PMID: 25970099
Cerebrospinal fluid shunt infection due to Gemella haemolysans.
Lo WB, Patel M, Solanki GA, Walsh AR
J Neurosurg Pediatr 2013 Feb;11(2):205-9. Epub 2012 Nov 30 doi: 10.3171/2012.10.PEDS12318. PMID: 23198840
Intraventricular vancomycin-induced cerebrospinal fluid eosinophilia: report of two patients.
Grabb PA, Albright AL
Neurosurgery 1992 Apr;30(4):630-4; discussion 634-5. doi: 10.1227/00006123-199204000-00029. PMID: 1584367

Prognosis

Clinical features and genetic analysis of Dandy-Walker syndrome.
Sun Y, Wang T, Zhang N, Zhang P, Li Y
BMC Pregnancy Childbirth 2023 Jan 18;23(1):40. doi: 10.1186/s12884-023-05367-1. PMID: 36653756Free PMC Article
Blake's Pouch Cysts and Differential Diagnoses in Prenatal and Postnatal MRI : A Pictorial Review.
Kau T, Marterer R, Kottke R, Birnbacher R, Gellen J, Nagy E, Boltshauser E
Clin Neuroradiol 2020 Sep;30(3):435-445. Epub 2020 Jan 15 doi: 10.1007/s00062-019-00871-4. PMID: 31942658
Prenatal neurologic anomalies: sonographic diagnosis and treatment.
De Catte L, De Keersmaeker B, Claus F
Paediatr Drugs 2012 Jun 1;14(3):143-55. doi: 10.2165/11597030-000000000-00000. PMID: 22242843
Dandy-Walker malformation: analysis of 38 cases.
Pascual-Castroviejo I, Velez A, Pascual-Pascual SI, Roche MC, Villarejo F
Childs Nerv Syst 1991 Apr;7(2):88-97. doi: 10.1007/BF00247863. PMID: 1863935
Dandy-Walker syndrome revisited.
Maria BL, Zinreich SJ, Carson BC, Rosenbaum AE, Freeman JM
Pediatr Neurosci 1987;13(1):45-51. doi: 10.1159/000120300. PMID: 3684815

Clinical prediction guides

Clinical features and genetic analysis of Dandy-Walker syndrome.
Sun Y, Wang T, Zhang N, Zhang P, Li Y
BMC Pregnancy Childbirth 2023 Jan 18;23(1):40. doi: 10.1186/s12884-023-05367-1. PMID: 36653756Free PMC Article
Phenotypic characterization of KCTD3-related developmental epileptic encephalopathy.
Faqeih EA, Almannai M, Saleh MM, AlWadei AH, Samman MM, Alkuraya FS
Clin Genet 2018 May;93(5):1081-1086. Epub 2018 Mar 15 doi: 10.1111/cge.13227. PMID: 29406573
Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal ultrasound imaging (part 1): nomenclature, diagnostic accuracy and associated anomalies.
D'Antonio F, Khalil A, Garel C, Pilu G, Rizzo G, Lerman-Sagie T, Bhide A, Thilaganathan B, Manzoli L, Papageorghiou AT
Ultrasound Obstet Gynecol 2016 Jun;47(6):690-7. Epub 2016 May 10 doi: 10.1002/uog.14900. PMID: 25970099
Dandy-Walker malformation: analysis of 38 cases.
Pascual-Castroviejo I, Velez A, Pascual-Pascual SI, Roche MC, Villarejo F
Childs Nerv Syst 1991 Apr;7(2):88-97. doi: 10.1007/BF00247863. PMID: 1863935
Clinicopathological findings associated with agenesis of the corpus callosum.
Jeret JS, Serur D, Wisniewski KE, Lubin RA
Brain Dev 1987;9(3):255-64. doi: 10.1016/s0387-7604(87)80042-6. PMID: 3310713

Recent systematic reviews

Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal ultrasound imaging (part 1): nomenclature, diagnostic accuracy and associated anomalies.
D'Antonio F, Khalil A, Garel C, Pilu G, Rizzo G, Lerman-Sagie T, Bhide A, Thilaganathan B, Manzoli L, Papageorghiou AT
Ultrasound Obstet Gynecol 2016 Jun;47(6):690-7. Epub 2016 May 10 doi: 10.1002/uog.14900. PMID: 25970099

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