A 10-day-old female infant is brought to the emergency department for poor feeding, vomiting, and lethargy. On physical exam, she has mild clitoromegaly and hyperpigmented genitalia. Laboratory tests reveal hyponatremia, hyperkalemia, and hypoglycemia. Which of the following enzyme deficiencies most likely explains this presentation?

A 10-year-old child presents with long limbs, pectus excavatum, and a mid-systolic click heard over the apex. Echocardiography shows mitral valve prolapse. What is the underlying embryologic and genetic cause of this condition?

A newborn undergoes a smooth delivery at term. Within minutes of the first breath, pulmonary resistance falls and left atrial pressure rises. What is the expected physiologic change in the foramen ovale shortly after birth?

A full-term neonate is born with a midline infraumbilical abdominal wall defect exposing the posterior bladder wall and ureteral orifices. The umbilical cord inserts abnormally, and the genitalia appear malformed. Which of the following is the most likely diagnosis, and what is the key embryological defect?

A pregnant woman uses marijuana daily throughout her pregnancy. Her infant is born at term with low birth weight and mild neurodevelopmental delay but no structural anomalies. What is the likely effect of prenatal marijuana exposure?

A 48-year-old man complains of numbness in the upper lip and cheek, as well as painful zaps triggered by touching the area. There is no motor deficit. Imaging reveals a lesion affecting a cranial nerve division that exits via the foramen rotundum. Which nerve division is involved, and what is its name, number, and function type?

A PA is grossing a colectomy specimen for carcinoma, which includes description of tumor location, lymph node dissection, and inking of margins. Thirty tissue blocks are submitted. The pathologist later performs the histologic review and renders a diagnosis. Which CPT code is most appropriate, and what does it represent?  

A 6-month-old infant presents with increasing head circumference, lethargy, and bulging fontanelles. Imaging reveals enlargement of the lateral and third ventricles, while the fourth ventricle appears normal. A mass is obstructing CSF flow at the level of the cerebral aqueduct.

A newborn has difficulty feeding and is diagnosed with congenital absence of the palatine tonsils. Which pharyngeal pouch is responsible for this anomaly?

A 34-year-old woman with known Marfan syndrome presents with palpitations and a mid-systolic click on auscultation. Echocardiography reveals mitral valve prolapse with mild regurgitation. Which of the following best explains her valvular abnormality?