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Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome?
Am J Med Genet. 1991 Jun 01; 39(3):294-8.AJ

Abstract

Dandy-Walker malformation is an unusual finding in Meckel syndrome, which characteristically presents with encephalocele, polydactyly, and cystic renal disease. We report on a family in which three nonviable brothers had Dandy-Walker malformations (variant) with associated enlarged cystic dysplastic kidneys and hepatic fibrosis. The consistent segregation of these abnormalities in all three sibs in the absence of polydactyly and encephalocele suggested the possibility of a distinct syndrome. The clinicopathological findings of the disorder are described and discussed in the context of the phenotypic spectrum of Meckel syndrome.

Authors+Show Affiliations

Clinical Genetics Unit, King Edward Memorial Hospital for Women, Subiaco, Australia.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article

Language

eng

PubMed ID

1867280

Citation

Walpole, I R., et al. "Dandy-Walker Malformation (variant), Cystic Dysplastic Kidneys, and Hepatic Fibrosis: a Distinct Entity or Meckel Syndrome?" American Journal of Medical Genetics, vol. 39, no. 3, 1991, pp. 294-8.
Walpole IR, Goldblatt J, Hockey A, et al. Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome? Am J Med Genet. 1991;39(3):294-8.
Walpole, I. R., Goldblatt, J., Hockey, A., & Knowles, S. (1991). Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome? American Journal of Medical Genetics, 39(3), 294-8.
Walpole IR, et al. Dandy-Walker Malformation (variant), Cystic Dysplastic Kidneys, and Hepatic Fibrosis: a Distinct Entity or Meckel Syndrome. Am J Med Genet. 1991 Jun 1;39(3):294-8. PubMed PMID: 1867280.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome? AU - Walpole,I R, AU - Goldblatt,J, AU - Hockey,A, AU - Knowles,S, PY - 1991/6/1/pubmed PY - 1991/6/1/medline PY - 1991/6/1/entrez SP - 294 EP - 8 JF - American journal of medical genetics JO - Am J Med Genet VL - 39 IS - 3 N2 - Dandy-Walker malformation is an unusual finding in Meckel syndrome, which characteristically presents with encephalocele, polydactyly, and cystic renal disease. We report on a family in which three nonviable brothers had Dandy-Walker malformations (variant) with associated enlarged cystic dysplastic kidneys and hepatic fibrosis. The consistent segregation of these abnormalities in all three sibs in the absence of polydactyly and encephalocele suggested the possibility of a distinct syndrome. The clinicopathological findings of the disorder are described and discussed in the context of the phenotypic spectrum of Meckel syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1867280/Dandy_Walker_malformation__variant__cystic_dysplastic_kidneys_and_hepatic_fibrosis:_a_distinct_entity_or_Meckel_syndrome L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1991&volume=39&issue=3&spage=294 DB - PRIME DP - Unbound Medicine ER -