Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype

J Med Genet. 1999 Nov;36(11):854-5.

Abstract

We report a 9 year old girl with microcephaly and self-limiting dilated cardiomyopathy. Additional features include mental retardation, delayed developmental milestones, and minor dysmorphic features. This is the second reported case of this phenotype, which is believed to be a new autosomal recessive syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cardiomyopathies*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Microcephaly*
  • Syndrome