Patent ductus arteriosus and pulmonary valve stenosis in a patient with 18p deletion syndrome.
June 28th, 2008 | by admin |Patent ductus arteriosus and pulmonary valve stenosis in a patient with 18p deletion syndrome.
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.
Xie CH, Yang JB, Gong FQ, Zhao ZY.
The Children\’s Hospital of Zhejiang University School of Medicine, 57 Zhugan Xiang, Hangzhou 310003, China. wxh_hz@sohu.com.