Holt-Oram syndrome associated with the hypoplastic left heart syndrome.
We present the first case of Holt-Oram syndrome associated with the lethal congenital heart defect of hypoplastic left heart syndrome. The possible pathophysiological link is explored and the need for careful genetic and cardiologic evaluation in these patients is reiterated.
Division of Neurology, Children's Hospital of Philadelphia.
T A
TA
Glauser
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E
Zackai
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P
Weinberg
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R
Clancy
D001132:Arm / Q000002:abnormalities; D001848:Bone Diseases, Developmental / Q000150:complications*; D005385:Fingers / Q000002:abnormalities; D006228:Hand Deformities, Congenital; D006330:Heart Defects, Congenital / Q000150:complications*; D006339:Heart Rate; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009206:Myocardium / Q000473:pathology; D010375:Pedigree; D013577:Syndrome