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
This article has been cited by other articles:
-
Becker, K, Yates, R
(2003). Microcephaly-cardiomyopathy syndrome: expansion of the phenotype. J. Med. Genet.
40: e78-78
[Full Text]
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