01
Sep
Smith-Magenis syndrome and new cardiac findings
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This article discusses Smith-Magenis syndrome along with new functional cardiac findings and a review of the literature. It is known that some patients with Smith-Magenis syndrome (SMS) have congenital heart disease (CHD), but detailed examination of the cardiac function in SMS patients has not been performed. The authors examined 24... Read More
01
Sep
Chromosome 10p microdeletion symptoms
Article describes chromosome 10p microdeletion symptoms in a newborn child. Also includes discussion of HDR syndrome and the loss of the GATA3 gene. Association of hypoparathyroidism, hearing impairment and renal defects is known as Barakat syndrome (or HDR syndrome). This condition is caused by the deletion or mutation of... Read More
