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Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype
S J Kennedy1, K J Lee, B W McCrindle
1Division of Clinical Genetics, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1XS, Canada.
Journal of Medical Genetics
|November 2, 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.