Korean Circ J.  1996 Apr;26(2):586-592. 10.4070/kcj.1996.26.2.586.

A Case of Noonan Syndrome Combined with Infundibular Pulmonic Stenosis

• Moon KW
• Park JH
• Yoo KD
• Park JW
• Youn HJ
• Chung WS
• Kim JH
• Choi GB
• Hong SJ
• Lee SH
• Kwak MS

• KMID: 2228948
• DOI: http://doi.org/10.4070/kcj.1996.26.2.586

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.

Keyword

Noonan syndrome; Infundibular pulmonic stenosis

MeSH Terms

Adult
Congenital Abnormalities
Funnel Chest
Humans
Karyotype
Neck
Noonan Syndrome*
Pulmonary Valve Stenosis*
Thorax
Turner Syndrome