Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
Chun-Hong Xie(The Children’s Hospital of Zhejiang University School of Medicine, China); Jian-Bin Yang(The Children’s Hospital of Zhejiang University School of Medicine, China); Fang-Qi Gong(The Children’s Hospital of Zhejiang University School of Medicine, China); Zheng-Yan Zhao(The Children’s Hospital of Zhejiang University School of Medicine, China)
49권 3호, 500~502쪽
초록
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.
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.
- 발행기관:
- 연세대학교의과대학
- 분류:
- 의학일반