Miscellaneous genetic disorders Quiz: Ace Your Exams

Get ready to dominate your medical and nursing exams by using our dynamic quizzes to elevate your knowledge and increase your confidence. Whether you're gearing up for the USMLE®, COMLEX®, or your next in-class assessment, Osmosis quizzes tackle key topics in pathology, diagnostics, and treatment approaches. By honing in on clinical readiness and decision-making, we make sure the knowledge you gain empowers you both in the classroom and in real-world practice. Jump in and supercharge your exam prep!

Learning videos

Flashcards

Expert reviewed

Spaced Repetition

Mobile app

Custom Quizzes

1 of 8

A 3-hour-old female neonate is being evaluated in the newborn nursery for hypotonia. The infant was born via vaginal delivery to a 25-year-old mother, who did not have a perinatal follow-up. Family history is non-contributory. The patient’s birth weight is below the 5th percentile, height at the 6th percentile, and head circumference at the 3rd percentile. On examination, the child appears hypotonic, and her cry is high-pitched and cat-like. In addition, she has a moon face, hypertelorism, a flat nose, and a prominent nasal bridge. Which of the following is most likely responsible for this patient’s condition?  

Elimination tool

Choose an option: