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Cerebro-reno-digital syndrome in two sibs
M Piantanida1, A Tiberti, A Plebani
1Biologia Generale e Genetica Medica, Università di Pavia, Italy.
American Journal of Medical Genetics
|September 1, 1993
Abstract:
We describe two sibs with mental retardation, facial anomalies, polydactyly, cerebellar vermis agenesis, and either meningocele or renal cystic dysplasia. The patients' condition appears to belong to a group of cerebro-reno-digital syndromes. Autosomal recessive inheritance is suggested.