Biology, Genetics & Bone Healing MCQs

A 75-year-old female with an acute osteoporotic compression fracture is prescribed an intranasal medication that provides both antiresorptive effects and analgesic properties for acute bone pain. What is the mechanism of action of this medication?

A patient with a history of a distal radius fragility fracture sustains a vertebral compression fracture. Bone mineral density (BMD) testing reveals a T-score of -3.0. According to WHO criteria, this strictly defines:

Teriparatide is being considered for a patient with severe osteoporosis and multiple painful compression fractures. Which of the following is a recognized absolute contraindication to its use?

A 9-year-old boy presents with delayed closure of cranial sutures, ability to appose his shoulders anteriorly due to absent clavicles, and a wide symphysis pubis on pelvic radiographs. Which of the following gene mutations is responsible for this condition?

A 6-year-old boy presents with medial midfoot pain and a limp for 2 months. Radiographs reveal sclerosis and flattening of the navicular bone. What is the most appropriate initial management?

The most common form of rickets in the United States is:

The gene most likely to be associated with inherited rickets is:

Genetic testing performed for a patient reveals a defect in PHEX. The family history provided by the patient is most likely to include:

A toddler with bowing is suspected of X-linked hypophosphatemic rickets (XLH). The most likely laboratory abnormalities will include:

An 18-month-old patient is suspected of X-linked hypophosphatemic rickets. The clinical findings are most likely to include all of the following except:

A patient presents with generalized hypermobility, a delayed closure of fontanelles, and the ability to appose the shoulders anteriorly at the midline. This disorder is most commonly caused by a mutation in which gene?

A 2-year-old boy with blue sclerae presents with his third long bone fracture. Genetic testing reveals a defect in Type I collagen. Which medical treatment has been shown to reduce fracture rates and improve bone density in this condition?

A 10-year-old girl is noted to have a large head with delayed closure of the fontanelles, dental anomalies, and the ability to appose her shoulders anteriorly. Radiographs reveal hypoplastic clavicles. Which of the following genes is affected in this autosomal dominant condition?

A 7-year-old girl is evaluated for a broad forehead, delayed tooth eruption, and the ability to appose her shoulders anteriorly. Radiographs show hypoplastic clavicles. What is the primary molecular defect associated with this syndrome?

A 7-year-old boy presents with delayed tooth eruption, frontal bossing, and the ability to approximate his shoulders in the midline anteriorly. A mutation in which of the following genes is responsible for this condition?

A 5-year-old child with blue sclerae, dentinogenesis imperfecta, and multiple prior fractures is started on pamidronate therapy. What is the primary mechanism of action of this medication?

A 3-year-old child presents with progressive bowing of the lower extremities, short stature, and a waddling gait.

Laboratory studies show a normal serum calcium, markedly low serum phosphate, elevated alkaline phosphatase, and normal PTH. What is the most likely diagnosis?

The action of bisphosphonates is primarily upon which component of bone:

A 4-year-old boy presents with delayed motor milestones and uses his hands to walk up his thighs to stand. Laboratory testing reveals significantly elevated creatine kinase. A muscle biopsy would most likely show an absence of which protein?