title: Cerebro-reno-digital syndrome in two sibs.
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.
authors.affiliation: Biologia Generale e Genetica Medica, Università di Pavia, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Piantanida
authors.forename: A
authors.initials: A
authors.lastname: Tiberti
authors.forename: A
authors.initials: A
authors.lastname: Plebani
authors.forename: P
authors.initials: P
authors.lastname: Martelli
authors.forename: C
authors.initials: C
authors.lastname: Danesino
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D052177:Kidney Diseases, Cystic / Q000235:genetics*; D008297:Male; D008588:Meningocele / Q000235:genetics; D010375:Pedigree; D017689:Polydactyly / Q000235:genetics*; D012640:Seizures / Q000235:genetics; D013577:Syndrome