Mental retardation, epilepsy, short stature, and skeletal dysplasia: Confirmation of the Gurrieri syndrome

Agatino Battaglia, Eugenio Orsitto, Gaetano Gibilisco

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a male with severe mental retardation, epilepsy, short stature, and skeletal dysplasia. The syndrome was first delineated by Gurrieri et al. in 1992 [Am J Med Genet 44:315-320]. This case seems to confirm the existence of the Gurrieri syndrome.

Original languageEnglish
Pages (from-to)230-232
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume62
Issue number3
DOIs
Publication statusPublished - Mar 29 1996

Keywords

  • autosomal recessive inheritance
  • epilepsy
  • Gurrieri syndrome
  • mental retardation
  • multiple congenital anomalies
  • skeletal dysplasia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

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