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
Chun-Hong
CH
The Children's Hospital of Zhejiang University School of Medicine, 57 Zhugan Xiang, Hangzhou 310003, China.
Yang
Jian-Bin
JB
Gong
Fang-Qi
FQ
Zhao
Zheng-Yan
ZY
D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D004374:Ductus Arteriosus, Patent / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007621:Karyotyping; D008297:Male; D011666:Pulmonary Valve Stenosis / Q000235:genetics / Q000473:pathology*