Gallbladder Duplication, Annular Pancreas and Duodenal Stenosis in a Child with Noonan Syndrome

Noonan syndrome occurs in about one per 2000 live births [1]. The males and females are affected equally. The disorder is usually sporadic, but presents also with dominant inheritance. The main features of Noonan syndrome are characteristic facial changes, such as: triangular face, hypertelorism, epicanthus, downward palpebral fissures, ptosis, micrognathia, low-set ears with thickened helices; webbed neck; congenital heart disease (in 30-50%); short stature; chest and vertebral deformities; delayed puberty and sometimes bleeding diatheses [1,2]. Moderate mental retardation may our in 25% of the patients [1,2]. The patients with Noonan syndrome have normal kariotypes. The gene responsible for the disorder was mapped to 12q24.1 [3].