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Isolated Dandy-Walker malformation without hydrocephalus

MedGen UID:
797538
•Concept ID:
CN202464
•
Finding
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
Follow this link to review classifications for Isolated Dandy-Walker malformation without hydrocephalus in Orphanet.

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
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
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

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: prenatal diagnosis and prognosis.
Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F
Childs Nerv Syst 2003 Aug;19(7-8):484-9. Epub 2003 Jul 16 doi: 10.1007/s00381-003-0782-5. PMID: 12879343
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

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
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 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

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
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
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
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
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: prenatal diagnosis and prognosis.
Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F
Childs Nerv Syst 2003 Aug;19(7-8):484-9. Epub 2003 Jul 16 doi: 10.1007/s00381-003-0782-5. PMID: 12879343
The sonographic diagnosis of Dandy-Walker and Dandy-Walker variant: associated findings and outcomes.
Ecker JL, Shipp TD, Bromley B, Benacerraf B
Prenat Diagn 2000 Apr;20(4):328-32. PMID: 10740206
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

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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