QuestionSBA
QuestionChoice
This is incorrect. This is associated with rickets which also carries an increased fracture risk. However, osteogenesis imperfecta is a genetic disorder of type 1 collagen.
10027607
b
Vitamin D deficiency
QuestionChoice
This is incorrect. Paget's disease is associated with excessive bone turnover due to the increase in osteoclast and osteoblast activity. However, osteogenesis imperfecta is a genetic disorder of type 1 collagen.
10027609
d
Increased osteoclast and osteoblast activity
QuestionChoice
This is correct. Osteogenesis imperfecta is a genetic disorder of type 1 collagen. It causes fragile bones and low trauma fractures. Education about the condition and its treatment is essential.
10027606
a
Type 1 collagen synthesis defect
QuestionChoice
This is incorrect. This is associated with achondroplasia. However, osteogenesis imperfecta is a genetic disorder of type 1 collagen.
10027610
e
Mutated fibroblast growth factor receptor (FGFR)
QuestionChoice
This is incorrect. This would explain Marfan syndrome - a connective tissue disorder. However, osteogenesis imperfecta is a genetic disorder of type 1 collagen.
10027608
c
Genetic defect in fibrillin synthesis
Concept
Chapter
2693
4669
Osteogenesis Imperfecta
Topic
154
Musculoskeletal physiology and disease
17919
A 5 year old female presents to a paediatric orthopaedic clinic. Her parents are very worried because she has sustained multiple low-trauma fractures. She is also known to have hearing loss, scoliosis, easy bruising and a blue tinge to her sclera.

After ruling out non-accidental injury, she is diagnosed with osteogenesis imperfecta.

Which of the following describes the pathophysiology of osteogenesis imperfecta?
a