A 32-year-old woman, gravida 2, para 1, at 14-weeks' gestation comes to the physician for a prenatal visit. Routine first trimester screening shows increased nuchal translucency, decreased β-hCG concentration, and decreased levels of pregnancy-associated plasma protein A. Amniocentesis shows trisomy of chromosome 13. This fetus is at increased risk for which of the following?
ADuodenal atresia
BCutis aplasia
CCystic hygroma
DOptic glioma
EProminent occiput
A 1-year-old boy presents to pediatrics clinic for a well-child visit. He has no complaints. He has a cleft palate and an abnormal facial appearance. He has been riddled with recurrent infections and is followed by cardiology for a ventricular septal defect (VSD). Vital signs are stable, and the patient's physical exam is benign. If this patient's medical history is part of a larger syndrome, what might one also discover that is consistent with the manifestations of this syndrome?
AKidney stones
BA positive Chvostek's sign
CB-cell deficiency
DHypoactive deep tendon reflexes
EA shortened QT Interval
A 14-year-old boy presents as a new patient to your practice. While conducting your physical exam, you observe the findings depicted in Figures A and B. Which of the following additional findings would most likely be found in this patient?
AMultiple café-au-lait macules
BA white tuft of scalp hair since birth
CThe presence of ash-leaf spots
DFacial angiofibromas
EA family history of seizures and intellectual disability
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