Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause

Am J Med Genet. 1993 Oct 1;47(5):702-6. doi: 10.1002/ajmg.1320470523.

Abstract

We report on 2 unrelated Brazilian girls, born to nonconsanguineous parents, and presenting structural central nervous system defects, hydrocephaly, macrocephaly, craniosynostosis, prominent forehead, anophthalmia, and abnormal nares. These patients may have a previously undescribed recurrent-pattern cerebro-oculo-nasal syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Anophthalmos / genetics*
  • Brain / abnormalities*
  • Brazil
  • Cerebral Ventricles / abnormalities
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Nose / abnormalities*
  • Phenotype
  • Syndrome
  • Tooth Abnormalities / genetics