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Short report
Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype
  1. Shelley J Kennedya,
  2. Kyong-Jin Leeb,
  3. Brian W McCrindleb,
  4. Ahmad S Teebia
  1. aDivision of Clinical Genetics, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1XS, Canada, bDivision of Cardiology, Hospital for Sick Children, Toronto, Ontario, Canada
  1. Dr Teebi.

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.

  • microcephaly-cardiomyopathy syndrome
  • mental retardation

https://doi.org/10.1136/jmg.36.11.854

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