Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype.
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.
Kennedy
S J
SJ
Division of Clinical Genetics, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1XS, Canada.
Lee
K J
KJ
McCrindle
B W
BW
Teebi
A S
AS
D000328:Adult; D009202:Cardiomyopathies; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly; D013577:Syndrome