New autosomal recessive syndrome of mental retardation, coarse face, microcephaly, epilepsy and skeletal abnormalities

A. Battaglia, A. R. Ferrari, E. Orsitto, G. Gibilisco, G. Neri

Research output: Contribution to journalArticle

Abstract

We describe two sibs, one male and one female, presenting a new autosomal recessive multiple congenital anomalies/mental retardation syndrome of 'coarse face', microcephaly, moderate to severe mental retardation, epilepsy and skeletal abnormalities.

Original languageEnglish
Pages (from-to)41-47
Number of pages7
JournalClinical Dysmorphology
Volume5
Issue number1
DOIs
Publication statusPublished - 1996

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Keywords

  • Autosomal recessive inheritance
  • Epilepsy
  • Mental retardation syndrome
  • Multiple congenital anomalies
  • Skeletal dysplasias

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy

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