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Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype


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.

  • microcephaly-cardiomyopathy syndrome
  • mental retardation

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