Approach to connective tissue 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!

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An 18-month-old boy is brought to the clinic for delayed development. The caregivers report the child has not started walking, is unable to climb on or off furniture, and does not follow one-step directions. There is no history of characteristic odors, meningitis, or stroke. The caregivers report a past medical history of pulmonary embolism. The infant was born at home, and the family moved to the United States when he was 6 months of age. All immunizations are up to date. Temperature is 37°C (98.6°F), pulse is 100/min, respirations are 25/min, blood pressure is 90/46 mmHg, and oxygen saturation is 96% on room air. Height is at the 95^th percentile for age, and weight is at the 45^th percentile. On examination, the infant appears fair-skinned and blue-eyed, with no abnormal facial features. Cardiopulmonary and abdominal examinations are unremarkable. Laboratory studies show elevated urine homocysteine levels. Which of the following genetic mutations is most likely in this patient?

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Fragile X messenger ribonucleoprotein 1 (FMR1) gene mutation

Fibrilin-1 gene mutation

Collagen-1 gene mutation

Cystathionine beta-synthase (CBS) gene mutation

Collagen-5 gene mutation