Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype
- 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
- Dr Teebi.
- Revised 13 May 1999
- Accepted 7 July 1999
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.
