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J Med Genet 1999;36:854-855 ( November )

Short report

Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype Shelley J Kennedya, Kyong-Jin Leeb, Brian W McCrindleb, Ahmad S Teebia

a Division of Clinical Genetics, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1XS, Canada, b Division of Cardiology, Hospital for Sick Children, Toronto, Ontario, Canada

Correspondence to: Dr Teebi.

Revised version received 13 May 1999; Accepted for publication 7 July 1999

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.


Keywords: microcephaly-cardiomyopathy syndrome; mental retardation

© 1999 by J Med Genet


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