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Noonan Syndrome and Neuroblastoma

John L. Cotton, MD; Roberta G. Williams, MD
Arch Pediatr Adolesc Med. 1995;149(11):1280-1281. doi:10.1001/archpedi.1995.02170240098019.
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Noonan syndrome is characterized by short stature, webbing of the neck, hypertelorism, cryptorchidism, feeding difficulties, and mild mental retardation.1,2 Cardiac manifestations include dysplastic valvar pulmonic stenosis, hypertrophic cardiomyopathy, atrial septal defect, ventricular septal defect, and patent ductus arteriosus.3,4 The incidence is estimated to be from 1 in 1000 to 1 in 2500.5,6 The diagnosis is made clinically, but there can be a spectrum of expression of the phenotype from mild to severe, so the actual incidence may be underestimated. Neuroblastoma has been associated with congenital heart disease and other syndromes. We report herein, to the best of our knowledge, the first case of a patient with Noonan syndrome and neuroblastoma.

Report of a Patient.  A 2810-g 32-week premature female infant was born via normal spontaneous vaginal delivery to a 40-year-old, gravida 4, para 2, white woman at an outside hospital. Results of antenatal fetal ultrasound were significant


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