Skip to main content

Advertisement

Log in

Familial Dandy–Walker syndrome: a case report supporting an autosomal inheritance

  • Case Report
  • Published:
Child's Nervous System Aims and scope Submit manuscript

Abstract

Introduction

We report an isolated pedigree in which a consanguineous couple had twin sons with Dandy–Walker malformation (DWM). The mother is similarly affected with the disorder.

Discussion

DWM is an abnormality of the central nervous system, which leads to hydrocephalus and is associated with other abnormalities.

Conclusion

Inheritance of the disorder remains controversial, with the majority perceived to be sporadic cases. This report suggests an autosomal inheritance.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

Similar content being viewed by others

References

  1. Barkovich AJ, Kjos BO, Norman D, Edwards MS (1989) Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging. Am J Neuroradiol 10:977–988

    Google Scholar 

  2. Benda CE (1954) The Dandy–Walker syndrome or the so-called atresia of the foramen Magendie. J Neuropathol Exp Neurol 13:14–29

    PubMed  CAS  Google Scholar 

  3. Bonnevie K (1943) Hereditary hydrocephalus in the house mouse I. Manifestation of the hymutation after birth and in embryos 12 days old or more. Skr Nor Vidensk Akad I Math Nat K1 4:1–32

    Google Scholar 

  4. Brodal A, Bonnevie K, Harkmark W (1944) Hereditary hydrocephalus in the house mouse II. The anomalies of the cerebellum: partial defective development of the vermis. Skr Nor Vidensk Akad I Math Nat K1 8:1–42

    Google Scholar 

  5. Chemke J, Czernobilsky B, Mundel G et al (1975) A familial syndrome of central nervous system and ocular malformations. Clin Genet 7:1–7

    PubMed  CAS  Google Scholar 

  6. Chitayat D, Moore L, Del Bigio MR, MacGregor D, Ben-Zeev B, Hodgkinson K, Deck J, Stothers T, Ritchie S, Toi A (1994) familial Dandy–Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome in brothers. A new syndrome? Am J Med Genet 52:406–415

    Article  PubMed  CAS  Google Scholar 

  7. Cowles T, Furman P, Wilkins I (1993) Prenatal diagnosis of Dandy Walker malformation in a family displaying X-linked inheritance. Prenat Diagn 13:87–91

    Article  PubMed  CAS  Google Scholar 

  8. Dandy WE, Blackfan KD (1914) Internal hydrocephalus. An experimental, clinical and pathological study. Am J Dis Child 8:406–482

    Google Scholar 

  9. Hart MN, Malamud N, Ellis WG (1972) The Dandy–Walker syndrome. A clinicopathological study based on 28 cases. Neurology 22:771–780

    PubMed  CAS  Google Scholar 

  10. Harwood-Nash DC, Fitz CR (1977) Neuroradiology in infants and children, vol 3. Mosby, St. Louis, pp 1014–1019

    Google Scholar 

  11. Hirsch JF, Pierre-Khan A, Renier D, Sainte-Rose C, Hoppe-Hirsch E (1984) The Dandy–Walker malformation: a review of 40 cases. J Neurosurg 61:515–522

    Article  PubMed  CAS  Google Scholar 

  12. Jenkyn LR, Roberts DW, Merlis AL et al (1981) Dandy–Walker malformations in identical twins. Neurology 31:337–341

    PubMed  CAS  Google Scholar 

  13. Kalter H, Warkany J (1957) Congenital malformations in inbred strains of mice induced by riboflavin-deficient, galactoflavin-containing diets. J Exp Zool 136:531–565

    Article  PubMed  CAS  Google Scholar 

  14. Lehman RM (1981) Dandy–Walker syndrome in consecutive siblings: familial hindbrain malformation. Neurosurgery 8:717–719

    Article  PubMed  CAS  Google Scholar 

  15. Murray JC, Johnson JA, Bird TD (1985) Dandy–Walker malformation: etiologic heterogeneity and empiric recurrence risks. Clin Genet 28:272–283

    PubMed  CAS  Google Scholar 

  16. Planas S, Peiro R, Rubio R, Villanueva R, Sere A, Carreras R (2003) A new report of mesomelic camtomelia. Polydactyly and Dandy–Wlaker complex in siblings. Prenat Diagn 23:372–374

    Article  PubMed  CAS  Google Scholar 

  17. Saitoh K, Kawamoto T, Ebina T et al (1978) Six cases of Dandy–Walker syndrome. No To Shinkei 30:875–879

    PubMed  CAS  Google Scholar 

  18. Sawaya R, McLaurin RL (1981) Dandy–Walker syndrome. Clinical analysis of 23 cases. J Neurosurg 55:89–98

    PubMed  CAS  Google Scholar 

  19. Sutton JB (1887) The lateral recesses of the fourth ventricle; their relation to certain cysts and tumours of the cerebellum, and to occipital meningocele. Brain 9:352–361

    Article  Google Scholar 

  20. Wakeling EL, Jolly M, Fisk NM, Gannon C, Holder SE (2002) X-linked inheritance of Dandy–Walker variant. Clin Dysmorphol 11(1):15–18

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Thomas W. H. Bragg.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Bragg, T.W.H., St. George, E.J., Wynne-Jones, G.A. et al. Familial Dandy–Walker syndrome: a case report supporting an autosomal inheritance. Childs Nerv Syst 22, 539–541 (2006). https://doi.org/10.1007/s00381-005-0007-1

Download citation

  • Received:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-005-0007-1

Keywords

Navigation