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  • Title: Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.
    Author: Genuardi M, Dionisi-Vici C, Sabetta G, Mignozzi M, Rizzoni G, Cotugno G, Martini Neri ME.
    Journal: Am J Med Genet; 1993 Aug 01; 47(1):50-3. PubMed ID: 8368252.
    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.
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