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KMID : 0311120080490030500
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Yonsei Medical Journal
2008 Volume.49 No. 3 p.500 ~ p.502
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Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
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Xie Chun-hong
Yang Jian-Bin
Gong Fang-Qi
Zhao Zheng-Yan
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Abstract
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We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been reported. Del (18p) must be considered in patients with characteristic phenotypic abnormalities and congenital heart disease, including a combination of PDA and PS.
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KEYWORD
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18p deletion syndrome, dysmorphic features, patent ductus arteriosus, pulmonary valve stenosis
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