Cerebro-reno-digital syndrome in two sibs.
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.
Piantanida
M
M
Biologia Generale e Genetica Medica, Università di Pavia, Italy.
Tiberti
A
A
Plebani
A
A
Martelli
P
P
Danesino
C
C
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