Musculo - Pathology Part 1 Flashcards
Achondroplasia is an autosomal _____ (dominant/recessive) genetic trait.
Dominant
In achondroplasia, the short limbs are a result of the failure of what type of bone growth?
Longitudinal bone growth (this type of bone growth accounts for the growth of the long bones in the limbs)
In achondroplasia, _____ (endochondral/membranous) bone growth is not affected.
Membranous (this type of bone growth accounts for the formation of the skull, the facial bones, and the axial skeleton)
In achondroplasia, the limbs are shorter than normal, but the _____ and _____ are normal.
Head; trunk
Achondroplasia represents a failure of cartilage maturation resulting from a mutation in what receptor?
Fibroblast growth factor receptor
Individuals with achondroplasia have _____ (normal/decreased) life span and fertility.
Normal
True or False? Achondroplasia is associated with advanced paternal age.
True
A reduction in bone mass despite normal bone mineralization is a description of what disease?
Osteoporosis
What is type I osteoporosis?
Increased bone resorption as a result of decreased estrogen levels
Which therapy for osteoporosis is considered controversial due to risk of serious side effects?
Estrogen replacement therapy
What is type II osteoporosis?
Senile osteoporosis; affects men and women older than 70 years of age
Which upper extremity fracture is commonly seen in patients with osteoporosis?
Colles fracture of the distal radius
A known osteoporotic patient presents with acute back pain, loss of height and kyphosis. From what is she suffering?
Vertebral crush fractures
Name four treatments for osteoporosis.
Estrogen, calcitonin, bisphosphonates, and pulsatile parathyroid hormone
Name two methods of osteoporosis prophylaxis.
Exercise and calcium supplementation before age 30 years
A failure of normal bone resorption that leads to thickened, dense bones is a description of which disorder?
Osteopetrosis
Osteopetrosis is a bone defect caused by the abnormal function of which cell type?
Osteoclasts
In patients with osteopetrosis, is the serum calcium level high, normal, or low?
Normal
In patients with osteopetrosis, is the serum phosphate level high, normal, or low?
Normal
In patients with osteopetrosis, is the alkaline phosphatase level high, normal, or low?
Normal
A genetic deficiency in carbonic anhydrase II leads to what disease?
Osteopetrosis
Name three complications of osteopetrosis due to decreased space for bone marrow.
Anemia, thrombocytopenia, and infection
What neurologic lesions may result from osteopetrosis?
Cranial nerve palsies due to narrowed foramina in the skull
What is the classic x-ray finding in osteopetrosis?
Erlenmeyer flask bones that flare out