Chapter 20: Bones, Joints, Soft Tissue Tumors Flashcards
What is the term for a developmental anomaly of bone
Dysostosis
What are 4 examples of dysostosis
Defective ossification of fetal cartilage
Abnormal mesenchymal migration
Sporadic (isolated) part of syndrome
Homeobox gene alterations
What is the term for groups of genes that encode for structural development during embryogenesis
Homeobox genes
What is the most common congenital limb malformation
Syndactyly
What is aphasia
Absent or incomplete development
What is the definition of dysplasia
Mutations interfere with growth or homeostasis (dwarfism)
Are supernumerary digits and/or abnormal fusion of bones examples of dysostosis or dysplasia
Dysostosis
What type of collagen is mutated in osteogenesis imperfecta
Type 1 collagen
Is osteogenesis imperfecta autosomal dominant or autosomal recessive
Autosomal dominant
What type of osteogenesis imperfecta expects a normal lifespan
Type 1
What type of osteogenesis imperfecta is lethal in utero
Type II
What condition is the zebra stripe sign associated with
Osteogenesis imperfecta
What is the most common form of dwarfism
Achondroplasia
What condition is frontal bossing & midface hypoplasia associated with
Achondroplasia
What mutated gene is associated with achondroplasia
What % are spontaneous
Mutated fibroblast growth factor receptor (FGFR3)
75% are spontaneous
Shorter than which height is associated with dwarfism
4’10” (147cm)
What 2 spinal abnormalities are associated with dwarfism
Bullet vertebrae
Spinal stenosis
What hormone is the treatment for achondroplasia and at what age
Growth hormone (somatotropin) Age 1-6
What form of dwarfism is rare, results in a stillbirth from perinatal respiratory failure
Thanatophoric dwarfism
What type of dwarfism is associated with an extremely small thorax and short long bones
Thanatotropic dwarfism
What are 4 additional causes of dwarfism
Turner syndrome
Hypothyroidism
Malnutrition
Osteogenesis imperfecta
What is a group of rare genetic disorders decreases osteoclast-mediated bone resorption
Osteopetrosis
Regarding osteopetrosis, what leads to cranial nerve palsies
Foraminal stenosis
Regarding osteopetrosis, what leads to deranged hematopoiesis and what does it lead to;
Medullary cavity filling;
Recurrent infections,
Fatigue
Hepatosplenomegaly
What is the treatment for osteopetrosis (2)
Decrease calcium intake
Stem cell replacement
What is a severe form of osteopenia
Osteoporosis
What is the diagnosis for osteoporosis
T-score 2.5 SD from normal (major fracture risk)
What type of osteoporosis is postmenopausal/senile
Primary generalized
What type of osteoporosis is neoplasia, immobilization; is the result of hyperparathyroidism, nutrient deficiencies, or drugs
Secondary generalized
What is the definition of senile osteoporosis
Age related, normal
At what age may senile osteoporosis begin
Mid-20s
How much bone mass is lost each year with senile osteoporosis
0.5% per year
What causes postmenopausal primary osteoporosis
Decrease in estrogens
What percentage of females experience postmenopausal osteoporosis
50%
What are possible supplements to treat osteoporosis
Calcium & Vitamin D
What are 6 risk factors for osteoporosis
Increase in age Sedentary lifestyle Family history Disordered eating Malnutrition Malabsorption Female
What are 2 consequences of osteoporosis
Vertebral compression fracture (thoracolumbar)
Femoral neck fracture
What is an example of a vertebral compression fracture that decreases height and increases risk for pneumonia
Dowager’s Hump
What % of bone mass must be lost to detect osteoporosis on X-ray
30-40%
What is klippel-feil syndrome
Abnormal fusion of any 2 cervical vertebrae
What 3 prevention tactics can be used for osteoporosis
Physical activity <30 yoa
Dietary calcium & vitamin D
Antiresorptive pharmacological agents
What is known as “brittle bone disease”
Osteogenesis imperfecta
Regional osteoclasts activity, excessive bone formation, sclerotic burnout phase are associated with which disease
Pages Disease
What is “osteitis deformans”
Pages disease of bone
What condition produces weak bone with a “shaggy” appearance
Pages Disease of Bone
How is Paget Disease of Bone (Osteitis deformans) diagnosed
Increased alkaline phosphatase in serum (byproduct of osteoblasts activity)
What type of antigen is idiopathic and associated with Paget Disease
Paramyxoviridae antigens
What % of idiopathic Paget Disease is asymptomatic and how is it discovered
80%
Incidental X-ray finding
What is the most common symptom of Paget Disease
Neck and back pain
What % of Paget disease is associated with a sarcoma and a very poor prognosis
1%
What conditions are the “ivory vertebra sign” associated with
Paget disease
Metastatic Cancer (prostate)
Lymphoma
What percentage of Paget Disease patients have multiple lesions
85%
What % of Paget Disease patients involve the axial skeleton and/or the femur
80%
At what age is Paget Disease most commonly diagnosed
Age 70
Who is more likely to get Paget Disease (males/females)
Males (2x)
What is the treatment for Paget Disease
Bisphosphonates (intended to slow lyric phase)
What are 3 ways Vitamin D deficiency may manifest
Dietary/UV deficiency
Malabsorption
Chronic renal disorders
What is the condition of vitamin D deficiency in children and is severe
Rickets
What is the condition of vitamin D deficiency in adults and is mild
Osteomalacia
TQ: what condition is associated with decreased osteoclasts activity
Osteopetrosis
What condition is associated with increased renal tubule resorption of Ca++
Hyperparathyroidism
What glands maintain serum Ca++
Parathyroid glands
What is the most common cause of primary hyperparathyroidism
An adenine
What is the secondary hyperparathyroidism the most common cause of
Nonmalignant hypercalcemia
What % of hyperparathyroidism is asymptomatic
> 50%
Who does hyperparathyroidism most commonly affect
Post-menopausal females
What is the most common sign of hyperthyroidism
Kidney stones
What condition is “rugged-jersey” spine associated with
Hyperparathyroidism
What condition is “spiculated cortex” (hand) associated with
Hyperparathyroidism
What is the treatment for hyperparathyroidism
Water and physical activity
Avoid diuretics