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

M. Genuardi, C. Dionisi-Vici, G. Sabetta, M. Mignozzi, G. Rizzoni, G. Cotugno, M. E M Neri

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)50-53
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume47
Issue number1
Publication statusPublished - 1993

Keywords

  • Joubert syndrome
  • Meckel syndrome
  • renal-hepatic-pancreatic dysplasia

ASJC Scopus subject areas

  • Genetics(clinical)

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