Dandy-Walker malformation in the Meckel syndrome

Am J Med Genet. 1995 Jan 2;55(1):57-61. doi: 10.1002/ajmg.1320550116.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Dandy-Walker Syndrome / genetics*
  • Encephalocele / genetics*
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Occipital Bone / abnormalities
  • Polycystic Kidney Diseases / genetics*
  • Polydactyly / genetics*
  • Pregnancy
  • Syndrome
  • Ultrasonography, Prenatal