BONES

Question 1

DEVELOPMENTAL DISORDERS

developmental anomalies can result from localized disruption of the migration and condensation of mesenchyme _________ or global disorganization of bone and/or cartilage ___________

Answer 1

dysostosis
dysplasia

Question 2

DEVELOPMENTAL DISORDERS
Defects in Nuclear proteins and transcription factors

________ types D&E are caused by mutations in the homeobox _________ and are characterized by shortening of the terminal phalanges of the thumb and big toe respectively

loss of function mutations in __________ result in cleidocranial dysplasia, an autosomal dominant disorder characterized by patent fontanelles, delayed closure of cranial sutures

Answer 2

Brachydatyly Types D and E are caused by mutations in homeobox HOXD13 gene

loss of function mutations in RUNX2 result in cleidocranial dysplasia

Question 3

DEFECTS IN EXTRACELLULAR STRUCTURAL PROTEINS

___________ or brittle bone disease is the most common inherited disorder of connective tissue is a phenotypically heterogenous disorder caused by deficiencies in type I collagen synthesis

Answer 3

osteogenesis imperfecta

Question 4

DEFECTS IN METABOLIC PATHWAUS

___________ comprises of a group of rare genetic diseases characterized by reduced bone resorption due to deficient osteoclast development or function, which leads to diffuse, asymmetric skeletal necrosis

Answer 4

osteopetrosis

Question 5

OSTEOPETROSIS

most of the mutations underlying osteopetrosis interfere with acidification of the osteoclast resorption pit, which is required for the dissolution of calcium hydroxyapatite within the matrix

FOR EXAMPLE

___________ is a mild autosomal dominant form of osteopetrosis is caused by mutation of _________

Answer 5

albers-schonberg disease
CLCN7

Question 6

OSTEOPENIA AND OSTEOPOROSIS

genetic factors such as single-gene defects are rare causes of osteoporosis associated with _______, ________, and OPG

Answer 6

RANK, RANKL AND OPG

Question 7

Hyperparathyroidism causes increased __________

MORPHOLOGY
the _______ is generalized but is most severe in the phalanges, vertebrae, and proximal femur

at these sites, osteoclasts may tunnel into and dissect centrally along the length of trabeculae, leaving adjacent marrow spaces to be replaced by fibrovascular tissue producing ___________

bone loss in hyperparathyroidism predisposes to microfractures secondary hemorrhage, macrohage recruitment, and ingrowth of reparative fibrous tissue to create a mass lesion called __________

Answer 7

bone resorption
osteoporosis
dissecting osteitis
brown tumor

Question 8

RENAL OSTEODYSTROPHY
describes the collective skeletal changes that occur in chronic renal disease, including those associated with dialysis

_____ is characterized by increases bone resorption, and bone formation with the former predominating
______ is manifested by adynamic bone and less commonly osteomalacia
______ with areas of high turnover and low turnover

Answer 8

high turnover
low turnover
mixed pattern