Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

We report a 16-year-old girl with neonatal progeroid features and congenital lipodystrophy who was considered at birth as a possible variant of Wiedemann-Rautenstrauch syndrome. The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of Marfan syndrome. A de novo donor splice-site mutation (c.

Syncope in pediatric patients presenting to an emergency department.

Objective: To assess the epidemiology of syncope coming to medical attention among unselected children referred to an emergency department in Western Europe.

Study Design: We analyzed the cause of syncope and diagnostic workup of 226 consecutive pediatric patients seen in our emergency department because of a syncopal event.

Results: Neurocardiogenic syncope and neurologic disorders were the most common diagnoses (80% and 9%, respectively).

Chest pain in pediatric patients presenting to an emergency department or to a cardiac clinic.

Unlabelled: The aim of this study was to assess the epidemiology of chest pain among unselected Belgian children referred to an emergency department or to a cardiology clinic.

Material And Methods: We analyzed the etiology to chest pain and the diagnostic workup of 168 consecutive pediatric patients, seen in our emergency department with the primary diagnosis of chest pain over a 5-year period (group A). Simultaneously a sample of 69 consecutive pediatric patients referred to the cardiology clinic by primary care physicians with the same chief complaint was prospectively included in the study (group B).