A Case of Noonan Syndrome

Nam, Y S; Kim, I K; Lee, S H; Kwak, I P; Yoon, T K; Cha, K Y

Abstract

Noonan syndrome is featured by short stature, mental retardation, hypertelorism, epicanthal folds, dental malocclusion, pectus excavatum and congenital heart disease[mainly ventricular septal defects and pulmonary stenosis]. The phenotype has some similarities with Turner syndrome, but the karyotype is normal and males can be affected. Noonan syndrome is mostly sporadic, but an autosomal dominant transmission has been occasionally documented. The intrauterine sonographic findings have been described in a handful of cases. The most relevant sign is cystic hygroma colli, usually quite small and bilateral. The sign is atypical however, and it is probably shared by all conditions that are associated at birth with webbed neck. A high index of suspicion for Noonan syndrome is suggested when a male fetus or a female fetus with normal chromosome is found to have small bilateral cervical hygromas in association with congenital heart disease. We have experienced a case of Noonan syndrome in infertile patient with primary amenorrhea. So we report this case with a brief review of literatures.