Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype.
case_report · Level V
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- Record sourced from PubMed, PMID 10544231.
- Also identified by PMC identifier 1734265.
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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.
Medical subject headings
- Cardiomyopathies
- Microcephaly