Exam 1 Flashcards
(66 cards)
General term for a developmental anomaly of bone
Dysostosis
mutation which interfere with growth or homeostasis
Dysplasia
T/F Osteodysplasia and chondrodysplasia are pre-cancerous
False
An idiopathic congenital fusion of any 2 (or more) cervical vertebrae
Klippel-Feil syndrome
(dysostosis)
-also commonly associated with Sprengel’s deformity
Most common congenital malformation of the limbs
Syndactyly
Osteogenesis imperfecta is an autosomal dominant disorder which affects Type _ collagen fibers
Type 1
Autosomal dominant, congenital disorder that can lead to a bluish tint in the sclera
Osteogenesis imperfecta
-abnormal collagen of the choroid
Type 1 or 2 Osteogenesis imperfecta is lethal
Type 2 (in utero) is lethal -cerebral hemorrhage, respiratory failure
Most common form of dwarfism, generally characterized by short proximal extremities, bullet vertebrae, trident hand
Achondroplasia
Congenital disorder involving a mutation to the FGFR3 gene, what does this mutation inhibit?
Achondroplasia
- Inhibits epiphyseal plate chondrocytes
- dwarfism
More severe form of achondroplasia involving a severely underdeveloped thorax
Thanatophoric dwarfism
Bullet vertebrae and a trident hand are commonly associated with what congenital disorder
Achondroplasia
Congenital disorder in which the medullary cavity fills because of decreased osteoclast activity
Osteopetrosis
Erlenmyer flask deformity is associated with Gaucher disease and what other disorder
Osteopetrosis
Osteoporosis most commonly impacts what type of bone
Trabecular bone
-cancellous, spongy
3 areas tested with a Dexa scan
vertebral body, calcaneus, femoral neck
An increase in serum alkaline phosphatase is diagnostic for what acquired disease
Paget disease
-byproduct of osteoblast activity
T/F Paget disease is most commonly asymptomatic
True 70-90%
-relatively benign
80% of cases of Paget disease involve what specific ares of the skeleton
Axial skeleton (pelvis, sacrum, skull) Femur
While viewing an x-ray of the pelvis the bones have a “shaggy” appearance and increased bone mass, likely diagnosis?
Paget disease
-most common mid to late adult (70 years)
Male patient, 73 years old complains that his favorite hat of 6 years all of a sudden is too small for his head, likely diagnosis?
Paget disease
- More common in males
- Most common around 70 years of age
- Skull commonly affected
Most common pediatric soft tissue sarcoma
Rhabdomyosarcoma
- malignant
- aggressive
- 2/3 cured, poor prognosis for adults
Leiomyosarcoma is more common in males or females
females
- malignant
- painless mass
Virtually all skeletal muscle tumors are benign or malignant
malignant