The second case of Noonan syndrome: The association with unique multiple cardiac defects

Abstract

Background: Noonan syndrome is a heterogeneous congenital disorder that can occur sporadically or inherited as an autosomal dominant disorder. It is characterized by a wide spectrum of phenotypic abnormalities that vary greatly in range and severity, and two patients with Noonan syndrome may have two different characteristic features. In many patients the syndrome characterized by craniofacial abnormalities including low set ears, hypertelorism , congenital heart defect, short stature, and undescended testes. Although pulmonary stenosis is the commonly associated congenital cardiac defects, a variety of cardiac defects may occur in this syndrome. Atrial septal defect, and patent ductus arteriosus are other well-recognized cardiac defects of this syndrome. The diagnosis of Noonan syndrome is entirely clinical as there is no specific diagnostic available Materials and methods: A ten month old boy who was referred to the pediatric neuropsychiatric clinic of the Children Teaching Hospital of Baghdad Medical City because of developmental delay associated with multiple congenital abnormalities was studied. Results: The boy had growth and developmental retardation, low set ears, hypertelorism, and smooth philtrum, undescended testes. Echocardiography showed interatrial septum, small atrial septal defect and closing patent ductus arteriosus. Conclusion: Noonan syndrome was previously reported only in one girl from Iraq. The first Iraqi boy with Noonan syndrome is reported in association with unique cardiac defects. The previously reported case and the case in this deport demonstrates the variability of the phenotype of this syndrome.