A healthy, full-term 1-day-old female infant is evaluated after birth. She is noted to have a cleft palate and a systolic ejection murmur at the left intercostal space. Low-set ears and micrognathia are also noted on examination. A chest radiograph is obtained which reveals a boot-shaped heart and absence of thymus. Vital signs are unremarkable. Echocardiography is performed which demonstrates a ventricular septal defect, pulmonary valve stenosis, a misplaced aorta, and a thickened right ventricular wall. Family history is non-contributory; not much is known about the father. Based on this clinical presentation, which complication is this infant most likely to develop?
ACatlike cry
BIncreased phenylalanine in the blood
CSeizures
DWebbing of the neck
EHyperthyroidism
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 child is born by routine delivery and quickly develops respiratory distress. He is noted to have epicanthal folds, low-set ears that are pressed against his head, widely set eyes, a broad, flat nose, clubbed feet, and a receding chin. The mother had one prenatal visit, at which time the routine ultrasound revealed an amniotic fluid index of 3 cm. What is the most likely underlying cause of this patient's condition?
AUnilateral renal agenesis
BAn extra 18th chromosome
CAutosomal recessive polycystic kidney disease (ARPKD)
DA microdeletion in chromosome 22
EBilateral renal agenesis
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