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

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.

• Authors: M Genuardi, C Dionisi-Vici, G Sabetta, M Mignozzi, G Rizzoni, G Cotugno, M E Martini Neri
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 47 Issue 1 Pg. 50-3 (Aug 01 1993) ISSN: 0148-7299 [Print] United States
• PMID: 8368252 (Publication Type: Case Reports, Journal Article)

Topics

• 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)