Gross Anatomy and Embryology

Embryologic Development and Defects Practice Questions

20 free Embryologic Development and Defects practice questions for the USMLE Step 1, each with the correct answer and a detailed explanation. Open any question below, or take the full set as an interactive quiz.

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All Embryologic Development and Defects questions

20 questions
  1. Q1. A newborn has a midline abdominal defect with herniation of abdominal organs covered only by a thin membrane. Which embryologic failure is most likely responsi…
  2. Q2. A 2-week-old infant has meconium discharge from the umbilicus. This finding is most consistent with persistence of which structure?
  3. Q3. A congenital diaphragmatic hernia results from failed closure of which embryologic structure?
  4. Q4. A fetus has polyhydramnios. Ultrasound reveals esophageal atresia. This condition is most directly caused by abnormal development of which structure?
  5. Q5. A neonate with cyanosis worsens with feeding and improves with crying. Which embryologic defect most likely explains this?
  6. Q6. A neonate with Down syndrome has bilious vomiting. Imaging shows a 'double-bubble' sign. Which embryologic event is disrupted?
  7. Q7. A newborn has urine leaking from the umbilicus. This condition results from persistence of which fetal structure?
  8. Q8. A neonate has a systolic murmur and imaging reveals failure of the aorticopulmonary septum to develop properly. Which congenital defect is likely present?
  9. Q9. A fetus is diagnosed with congenital aganglionic megacolon (Hirschsprung disease). This disorder is caused by failure of migration of which cells?
  10. Q10. A newborn has a left-sided diaphragmatic hernia resulting in respiratory distress. Which fetal structure failed to develop normally?
  11. Q11. A neonate has a midline cleft lip. This defect results from failed fusion between which structures?
  12. Q12. A newborn with spina bifida occulta shows a tuft of hair over the lumbar spine. Which embryologic structure failed to close?
  13. Q13. A child presents with a horseshoe kidney. This congenital anomaly is due to fusion of the kidneys at which structure?
  14. Q14. A neonate exhibits a holosystolic murmur due to a ventricular septal defect. This defect is most commonly due to failure of formation of which septum?
  15. Q15. A newborn has intestinal obstruction due to malrotation of the midgut. Which embryologic event normally occurs at 10 weeks gestation?
  16. Q16. A neonate presents with a persistent cervical sinus. This defect results from incomplete involution of which structure?
  17. Q17. A newborn presents with Potter sequence. Which embryologic abnormality most likely caused this condition?
  18. Q18. A fetus shows intestinal contents within the umbilical cord covered by peritoneum. This condition is caused by which embryologic failure?
  19. Q19. A neonate is diagnosed with annular pancreas. This condition is most often caused by abnormal migration of which structure?
  20. Q20. A newborn has imperforate anus. This condition results from abnormal development of which embryologic structure?