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J Pediatr Urol 2014 Oct 13;10(5):804-9. Epub 2014 Feb 13.

Division of Urology, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.

Objective: Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. Patients with WBS usually show a group of features such as developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance. Read More

Cardiol Young 2007 Apr 26;17(2):229-31. Epub 2007 Feb 26.

Cardiology Unit, Department of Pediatrics, Uludag University, Faculty of Medicine, Bursa, Turkey.

Noonan's syndrome involves the association of multiple congenital abnormalities, with a variety of cardiac defects. We describe here the association of Noonan's syndrome with multiple pulmonary arteriovenous fistulas and bilateral duplicated renal collecting systems. To the best of our knowledge, this is the first reported case of an association of the Noonan phenotype with pulmonary arteriovenous fistulas. Read More