A Case of Noonan Syndrome Combined with Infundibular Pulmonic Stenosis.
10.4070/kcj.1996.26.2.586
- Author:
Keon Woong MOON
;
Jung Hee PARK
;
Ki Dong YOO
;
Ji Won PARK
;
Ho Joong YOUN
;
Wook Sung CHUNG
;
Jae Hyung KIM
;
Gyu Bo CHOI
;
Soon Jo HONG
;
Sun Hee LEE
;
Moon Sub KWAK
- Publication Type:Case Report
- Keywords:
Noonan syndrome;
Infundibular pulmonic stenosis
- MeSH:
Adult;
Congenital Abnormalities;
Funnel Chest;
Humans;
Karyotype;
Neck;
Noonan Syndrome*;
Pulmonary Valve Stenosis*;
Thorax;
Turner Syndrome
- From:Korean Circulation Journal
1996;26(2):586-592
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The Noonan syndrome is a rate clinical syndrome associated with similar congenital abnormalities, that is characteristics of Turner syndrome, such as short stature, webbed neck, low posterior hairline, cubitus valgus, shield chest or funnel chest, congenital features similar to Turner syndrome but with a normal karyotype, and Opitz et al. proposed the name "Noonan syndrome" for this condition in 1965. We experienced a 31-year old man with Noonan syndrome combined with valvular and infundibular pulmonic stenosis who had short stature, webbed neck and normal karyotype. So we report a case Noonan syndrome with a review of literature.
