Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly

Am J Med Genet. 1993 Aug 1;47(1):50-3. doi: 10.1002/ajmg.1320470111.


We report on a boy with several findings of the Meckel syndrome, such as hepatic fibrosis, polycystic kidneys, post-axial hexadactyly, and genital abnormalities, but a Dandy-Walker malformation rather an occipital meningocele. Progressive deterioration of renal function beginning at 37 months led to death at 43 months. Both Dandy-Walker malformation and survival to the fourth year are unusual findings in Meckel syndrome. This uncommon combination represents a further demonstration of the pleiotropy/heterogeneity of the cerebro-reno-digital syndromes.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Brain / abnormalities
  • Dandy-Walker Syndrome* / genetics
  • Foot Deformities, Congenital
  • Genetic Variation
  • Hand Deformities, Congenital
  • Humans
  • Infant
  • Liver Cirrhosis / congenital
  • Male
  • Polycystic Kidney Diseases / congenital*
  • Zellweger Syndrome* / genetics