MMB (048) Practical of Normal and Abnormal Bone Growth Flashcards
What do we call the process of laying down new bone material by osteoblasts?
Ossification
Which of the following types of bone develops out of a non-cartilage connective tissue scaffold?
A. Intramembranous
B. Endochondral
A. Intramembranous
1) Achondroplasia can cause which of the following:
A. Gigantism
B. Dwarfism
B. Dwarfism
2) Achondroplasia is a hereditary disorder with which of the following symptoms?
A. Short stature
B. Large head with prominent forehead
C. Spinal kyphosis or lordosis
D. Shortening of proximal limbs
E. All of the above
E. All of the above
3) Most cases are caused by a mutation in …….. gene
FGFR3 gene
4) what is the most likely mode of inheritance of achrondoplasia?
A. Autosomal dominant
B. Autosomal recessive
C. Xlinked
D. Incomplete penetrance
E. Multivariant inheritance
A. Autosomal dominant
5) A person with achondroplasia has what chance of passing it along to his/her child?
A. 25%
B. 50%
C. 66%
D. 75%
E. 100%
B. 50%
Which of the following processes are disturbed in achondroplasia?
A. endochondral ossification
B. intramembranous
C. peripheral ossification
A. Endochondral ossification
• The FGFR3 mutation in achondroplasia impairs cartilage proliferation at the growth plate. Which of the following explains why affected individuals have normal sized head and vertebrae but shortened limbs?”
A. Growth hormone and insulin like growth factor 1 levels only affect long bones
B. Intramembranous bone formation (flat bones) vs endochondral bone formation (long bones)
C. Flat bones are less susceptible to fracture
D.Difference in bone density
B. Intramembranous bone formation (flat bones) vs endochondral bone formation (long bones)
Which of the following conditions is characterized by brittle bones and predisposition to fractures?
A. Pituitary dwarfism
B. Achondroplastic dwarfism
C. Acromegaly
D. Osteogenesis imperfecta
D. Osteogenesis imperfecta
What is the genetic defect in osteogenesis imperfecta and mode of inheritance?
•Defects in type I collagen synthesis: mutations in genes that code for the α1 and α2 chains
•Autosomal dominant (more common)
•Autosomal recessive (severe lethal forms)
• Which is lethal osteogenesis imperfecta?
A. Type I
B. Type II
B. Type II
A 2 year old boy has a history of recurrent long bone fractures. On examination, he has blue sclerae, loose joints, abnormal teeth and poor hearing. Which of the following protein, encoded by the mutated gene is responsible?
A. Collagen
B. Dystrophin
C. Fibrillin
D. Fibroblast growth factor receptor
A. Collagen
• Which of the following disorders is characterised by growth hormone deficiency leading to affected individuals having a short stature?
A. Pituitary dwarfism
B. Achondroplastic dwarfism
C. Acromegaly
D. Osteogenesis imperfecta
A. Pituitary dwarfism
Which of the following diseases is characterised by high levels of growth hormone leading to excess growth of body tissues?
A. Pituitary dwarfism
B. Achondroplastic dwarfism
C. Acromegaly
D. Osteogenesis imperfecta
C. Acromegaly