Gestalt identification is the process by which healthcare practitioners actively organize clinical perceptions into specific diagnostic ideas. This implies that clinicians, in particular geneticists, have the ability to quickly generate diagnostic hypotheses in absence of complete information, simply on the basis of combination of specific facial dysmorphisms or particular elements of the clini...

The prevalence of childhood cancer attributable to genetic predisposition was generally considered very low. However, recent reports suggest that at least 10%of pediatric cancer patients harbor a germline mutation in a cancer predisposition gene. Although some of these children will have a family history suggestive of a cancer predisposition syndrome, many others will not. Evidence from recent ...

The prevalence of childhood cancer attributable to genetic predisposition was generally considered very low. However, recent reports suggest that at least 10%of pediatric cancer patients harbor a germline mutation in a cancer predisposition gene. Although some of these children will have a family history suggestive of a cancer predisposition syndrome, many others will not. Evidence from recent ...

Wilms’ tumor is the most frequently occurring renal tumor in children and is one of the most treatment-responsive tumors. A tumor-suppressor gene and other genetic abnormalities have been implicated in its etiology. In addition, patients with several congenital anomalies, such as Beckwith-Wiedemann syndrome, WAGR syndrome, and DenysDrash syndrome, have an increased risk of Wilms’ tumor. Previou...