Cerebro-reno-digital syndrome in two sibs

M. Piantanida, A. Tiberti, A. Plebani, P. Martelli, C. Danesino

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)420-422
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume47
Issue number3
Publication statusPublished - 1993

Keywords

  • autosomal recessive inheritance
  • meningocele
  • mental retardation
  • polydactyly
  • renal cysts
  • vermis agenesis

ASJC Scopus subject areas

  • Genetics(clinical)

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