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: M Piantanida, A Tiberti, A Plebani, P Martelli, C Danesino
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 47 Issue 3 Pg. 420-2 (Sep 01 1993) ISSN: 0148-7299 [Print] United States
• PMID: 8135292 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Abnormalities, Multiple (genetics)
• Cerebellum (abnormalities)
• Face (abnormalities)
• Female
• Genes, Recessive
• Humans
• Infant, Newborn
• Intellectual Disability (genetics)
• Kidney Diseases, Cystic (genetics)
• Male
• Meningocele (genetics)
• Pedigree
• Polydactyly (genetics)
• Seizures (genetics)
• Syndrome