Article
Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.
American journal of medical genetics - 1 Aug 1993
Genuardi M, Dionisi-Vici C, Sabetta G, Mignozzi M, Rizzoni G, Cotugno G, Martini Neri M E
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Brain
- Dandy-Walker Syndrome
- Foot Deformities, Congenital
- Genetic Variation
- Hand Deformities, Congenital
- Humans
- Infant
- Liver Cirrhosis
- Male
- Polycystic Kidney Diseases
- Zellweger Syndrome