30 Questions
Which of the following is a cause of pathological changes/growth defects to bone?
Hereditary errors
What is the result of dysostosis?
Localized defects in bone or digit formation
What can result from dysplasia?
Global disorganization of bone and/or cartilage
How many skeletal dysostoses and dysplasias are there?
More than 350
What are the 4 categories of diseases of skeletal growth?
Failures in formation, abnormalities in tissue quality, insufficient growth, abnormal growth due to extra-skeletal substances
What can lead to pathological changes in bone?
All of the above
What is the primary cause of congenital abnormalities?
Inherited mutations
What type of defects result from dysostosis?
Localized defects in bone or digit formation
What can arise from mutations in genes that control skeletal development or remodeling?
Dysplasia
What is the result of dysplasia?
Global disorganization of bone and/or cartilage
Which radiographic technique is used to measure bone density?
Dual-energy radiographic absorptiometry
What is the hallmark of osteoporosis?
Progressive microfractures and eventual vertebral collapse
What is the major challenge in pharmacotherapy for osteoporosis?
Inability to uncouple bone formation and resorption
What is the characteristic skeletal abnormality associated with untreated primary hyperparathyroidism?
Osteoporosis with most severe effects in phalanges, vertebrae, and proximal femur
What is the adult manifestation of impaired remodeling due to vitamin D deficiency?
Osteomalacia
What does PTH facilitate in the kidneys?
Synthesis of vitamin D and calcitriol
What is the characteristic appearance of brown tumors?
Brown color from vascularity, hemorrhage, etc.
What does secondary hyperparathyroidism result in?
Mild skeletal abnormalities
What is the most common radiological appearance of osteitis fibrosa cystica?
Cystic degeneration
What is the effect of PTH on serum calcium levels?
Increases serum calcium
Which disorder is characterized by extreme skeletal fragility due to a deficiency in type I collagen?
Osteogenesis imperfecta
What is the most common skeletal dysplasia resulting from retarded cartilage growth, leading to dwarfish features?
Achondroplasia
What is the characteristic of osteopetrosis, also known as 'marble bone disease'?
Impaired osteoclast function, resulting in brittle and easily fractured bone
What is the difference between mild and severe types of osteogenesis imperfecta?
Different degrees of skeletal deformities and lifespan
What is the main cause of postmenopausal osteoporosis?
Decreased estrogen levels and increased osteoclast activity
What is the difference between osteopenia and osteoporosis?
Severity of bone mass decrease and fracture risk
What is the characteristic of senile osteoporosis?
Characterized by low-turnover osteoporosis
What can lead to secondary osteoporosis?
Endocrine disorders, GI disorders, and certain drugs
What influences the pathogenesis of osteoporosis?
Age-related changes, physical activity, genetic factors, calcium nutritional state, and hormonal influences
What is the characteristic of osteogenesis imperfecta tarda?
Mild type with different degrees of skeletal deformities and lifespan
Study Notes
Skeletal Anomalies and Disorders
- Radiological appearance is more helpful than histological patterns in diagnosing congenital anomalies, which range from minor finger phalange absences to complete limb failure.
- The most common anomalies are absent or partial bone and failure in joint segmentation, leading to the formation of an entire big bone.
- Osteogenesis imperfecta is the most common inherited disorder of connective tissue, characterized by extreme skeletal fragility due to a deficiency in type I collagen.
- There are two types of osteogenesis imperfecta: mild (osteogenesis imperfecta tarda) and severe (osteogenesis imperfecta fetalis) with different degrees of skeletal deformities and lifespan.
- Achondroplasia, the most common skeletal dysplasia, is an autosomal dominant disorder resulting from retarded cartilage growth, leading to dwarfish features.
- Osteopetrosis, known as "marble bone disease," is characterized by impaired osteoclast function, resulting in brittle and easily fractured bone, and it can be fatal.
- Osteopenia is decreased bone mass, while osteoporosis is severe osteopenia with a significant risk of fracture.
- Senile osteoporosis is characterized by low-turnover osteoporosis, while postmenopausal osteoporosis is due to decreased estrogen levels and increased osteoclast activity.
- The pathogenesis of osteoporosis is influenced by age-related changes, physical activity, genetic factors, calcium nutritional state, and hormonal influences.
- Postmenopausal osteoporosis affects 40% of postmenopausal women and is mainly caused by decreased estrogen levels and increased osteoclast activity.
- Estrogen deficiency after menopause leads to increased bone resorption and decreased bone formation, especially affecting bones with increased surface area.
- Secondary osteoporosis can occur due to endocrine disorders, GI disorders, and certain drugs, leading to decreased bone mass and increased fracture risk.
Test your knowledge of skeletal anomalies and disorders with this quiz. Explore topics such as osteogenesis imperfecta, achondroplasia, osteopetrosis, osteopenia, osteoporosis, and more. Sharpen your understanding of radiological appearances, genetic factors, and pathogenesis related to skeletal anomalies and disorders.
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