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Dandy-Walker malformation in the Meckel syndrome.
Am J Med Genet. 1995 Jan 02; 55(1):57-61.AJ

Abstract

The Meckel syndrome (MS) is an autosomal recessive disorder classically defined by the triad of occipital encephalocele, multicystic kidneys, and polydactyly. Here we describe 3 sibs with varying manifestations of MS. The propositus had isolated cystic renal disease. The other sibs were both prenatally diagnosed with renal disease, polydactyly, and the Dandy-Walker malformation, an unusual central nervous system defect in MS. These findings are discussed in the context of the phenotypic expression of MS and the nosology of this disorder and the cerebro-reno-digital (Meckel-like) syndromes.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Philadelphia, Pennsylvania, USA.No affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7702098

Citation

Summers, M C., and A E. Donnenfeld. "Dandy-Walker Malformation in the Meckel Syndrome." American Journal of Medical Genetics, vol. 55, no. 1, 1995, pp. 57-61.
Summers MC, Donnenfeld AE. Dandy-Walker malformation in the Meckel syndrome. Am J Med Genet. 1995;55(1):57-61.
Summers, M. C., & Donnenfeld, A. E. (1995). Dandy-Walker malformation in the Meckel syndrome. American Journal of Medical Genetics, 55(1), 57-61.
Summers MC, Donnenfeld AE. Dandy-Walker Malformation in the Meckel Syndrome. Am J Med Genet. 1995 Jan 2;55(1):57-61. PubMed PMID: 7702098.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Dandy-Walker malformation in the Meckel syndrome. AU - Summers,M C, AU - Donnenfeld,A E, PY - 1995/1/2/pubmed PY - 1995/1/2/medline PY - 1995/1/2/entrez SP - 57 EP - 61 JF - American journal of medical genetics JO - Am J Med Genet VL - 55 IS - 1 N2 - The Meckel syndrome (MS) is an autosomal recessive disorder classically defined by the triad of occipital encephalocele, multicystic kidneys, and polydactyly. Here we describe 3 sibs with varying manifestations of MS. The propositus had isolated cystic renal disease. The other sibs were both prenatally diagnosed with renal disease, polydactyly, and the Dandy-Walker malformation, an unusual central nervous system defect in MS. These findings are discussed in the context of the phenotypic expression of MS and the nosology of this disorder and the cerebro-reno-digital (Meckel-like) syndromes. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7702098/Dandy_Walker_malformation_in_the_Meckel_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=55&issue=1&spage=57 DB - PRIME DP - Unbound Medicine ER -