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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVIsolated Dandy-Walker malformation without hydrocephalus

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Abnormality of the nervous system
        Dandy-Walker syndrome
        Isolated 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

Enlarged posterior fossa on prenatal imaging: differential diagnosis, associated anomalies and postnatal outcome.

Wüest A, Surbek D, Wiest R, Weisstanner C, Bonel H, Steinlin M, Raio L, Tutschek B
Acta Obstet Gynecol Scand 2017 Jul;96(7):837-843. Epub 2017 Apr 10 doi: 10.1111/aogs.13131. PMID: 28295149

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

See all (11)

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: 38600369 Free 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: 36653756 Free PMC Article

Differential Diagnoses and Their Implications of Dandy-Walker Malformation or Isolated Cisterna Magna, a Case Study: Baby V.

Weaver NL, Bradshaw WT, Blake SM
Neonatal Netw 2018 Nov;37(6):358-364. doi: 10.1891/0730-0832.37.6.358. PMID: 30567885

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

See all (37)

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: 36653756 Free 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

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

See all (63)

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

See all (5)

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: 36653756 Free 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

See all (36)

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: 36653756 Free 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.

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

See all (28)

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.

See all (1)

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Isolated Dandy-Walker malformation without hydrocephalus

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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