Roger L. Ladda

Are You Confident of the Diagnosis? Characteristic findings on physical examination Deletion 22q11.2 is associated with a wide range of clinical findings. Congenital heart disease occurs in 76% of patients and primarily involves conotruncal malformations, such as tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus. Characteristic facial features include angular facies; small, posteriorly rotated…

Are You Confident of the Diagnosis? What you should be alert for in the history Characteristic findings on physical examination Argininosuccinic aciduria is a disorder of the urea acid cycle. Although patients may present at any age, the onset is more typical in the neonatal period or late infancy. The neonatal presentation is usually characterized…