Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome.
10.3349/ymj.2008.49.3.500
- Author:
Chun Hong XIE
1
;
Jian Bin YANG
;
Fang Qi GONG
;
Zheng Yan ZHAO
Author Information
1. The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. wxh_hz@sohu.com
- Publication Type:Case Report
- Keywords:
18p deletion syndrome;
dysmorphic features;
patent ductus arteriosus;
pulmonary valve stenosis
- MeSH:
Child, Preschool;
Chromosome Banding;
*Chromosome Deletion;
Chromosomes, Human, Pair 18/*genetics;
Ductus Arteriosus, Patent/genetics/*pathology;
Humans;
Karyotyping;
Male;
Pulmonary Valve Stenosis/genetics/*pathology
- From:Yonsei Medical Journal
2008;49(3):500-502
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
