A nurse is caring for a 3-month-old infant who presents with multiple fractures and blue sclera. The infant's parents report a family history of bone fragility and frequent fractures. Based on these findings, which condition should the nurse suspect in this infant?
A nurse is caring for a 3-month-old infant who presents with multiple fractures and blue sclera. The infant's parents report a family history of bone fragility and frequent fractures. Based on these findings, which condition should the nurse suspect in this infant?
A. Celiac disease
[1%]
B. Marfan syndrome
[7%]
C. Osteogenesis Imperfecta (OI)
[89%]
D. Achondroplasia
[3%]
Statistics
Subject/Lesson
Subject
Child Health
Lesson
Musculoskeletal
Client Need
Test Plan
Physiological Adaptation
Related Topic
Alterations in Body Systems
Item Type
Item Type
Analysis
Explanation
Choice C is correct. The presentation of multiple fractures and blue sclera, combined with a family history of bone fragility, strongly suggests a diagnosis of OI.
Choice A is incorrect. Celiac disease is an autoimmune disorder characterized by an intolerance to gluten, leading to damage in the small intestine and malabsorption of nutrients.
Choice B is incorrect. Marfan syndrome is a genetic connective tissue disorder characterized by tall stature, long limbs, joint hypermobility, and cardiovascular abnormalities, such as aortic root dilation.
Choice D is incorrect. Achondroplasia is a genetic disorder characterized by dwarfism, short limbs, and a relatively large head. While individuals with achondroplasia may experience skeletal abnormalities, such as short stature and bowed legs, it does not typically present with the characteristic features of OI, such as multiple fractures and blue sclera.
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2 Key Topics

Osteogenesis Imperfecta
31.13 Musculoskeletal Injuries & Disorders
Additional Info
✓ Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones that are prone to fractures, as well as other connective tissue abnormalities. OI is caused by mutations in genes encoding type I collagen, a protein that provides strength and structure to bones and connective tissues. Clinical manifestations of OI may include multiple fractures, blue or gray sclera, dentinogenesis imperfecta (abnormal tooth development), short stature, hearing loss, and joint laxity.
✓ Nursing care for infants with OI focuses on preventing fractures, promoting safe handling and positioning techniques, and providing supportive care to manage pain and discomfort. Strategies to prevent fractures may include using gentle handling techniques, providing supportive padding during diaper changes and handling, and avoiding activities that may place excessive stress on the bones.
✓ OI affects approximately 1 in 10,000 to 20,000 individuals worldwide, making it a relatively rare genetic disorder.