BONES-JOINTS-SOFT TISSIE

Question 1

A baby with HOXD13 mutation would most likely manifest?

a. Patent fontanelles, Wormian bones
b. Short proximal extremities, normal trunk, enlarged head with bulging fontanels -
c. Micromelic shortening of limbs, frontal bossing, relative macroencephaly, small chest cavity, bell-shaped abdomen
d. Shortening of terminal phalanges of thumb and big toe

Answer 1

d. Shortening of terminal phalanges of thumb and big toe - Brachydactyly D and E

Question 2

Most lethal form of dwarfism most likely manifest?
a. Patent fontanelles, Wormian bones
b. Short proximal extremities, normal trunk, enlarged head with bulging fontanels
c. Micromelic shortening of limbs, frontal bossing, relative macroencephaly, small
chest cavity, bell-shaped abdomen
d. Shortening of terminal phalanges of thumb and big toe

Answer 2

C. Micromelic shortening of limbs, frontal bossing, relative macroencephaly, small
chest cavity, bell-shaped abdomen

Question 3

Most common skeletal dysplasia and major cause of dwarfism most likely manifest?

a. Patent fontanelles, Wormian bones
b. Short proximal extremities, normal trunk, enlarged head with bulging fontanels
c. Micromelic shortening of limbs, frontal bossing, relative macroencephaly, small
chest cavity, bell-shaped abdomen
d. Shortening of terminal phalanges of thumb and big toe

Answer 3

b. Short proximal extremities, normal trunk, enlarged head with bulging fontanels

Question 4

Loss of function of RUNX2 gene.

a. Patent fontanelles, Wormian bones
b. Short proximal extremities, normal trunk, enlarged head with bulging fontanels
c. Micromelic shortening of limbs, frontal bossing, relative macroencephaly, small
chest cavity, bell-shaped abdomen
d. Shortening of terminal phalanges of thumb and big toe

Answer 4

a. Patent fontanelles, Wormian bones

Question 5

Blue sclera due to decrease in collagen content, hearing loss due to impeded bone conduction and sensorineural loss and dental imperfection due to deficiency in dentin, will show in what collagen defect?

a. Type I
b. Type II
c. Type III
d. Type IV

Answer 5

A. Type I

Question 6

Lethal perinatal, still with blue sclera, intrauterine fracture is compatible with what type of Osteogenesis Imperfecta?

a. Type 1
b. Type 2
c. Type 3
d. Type 4

Answer 6

B. Type II

Question 7

Fundamental defect in Osteogenesis Imperfecta.

a. Hearing loss due to impeded bone conduction and sensorineural loss
b. Too little bone resulting in extreme skeletal fragility
c. Dental imperfection due to deficiency in dentin
d. Blue sclera due to decreased collagen content

Answer 7

B. Too little bone resulting in extreme skeletal fragility

Question 8

48. Marble Bone disease and Albers-Shonberg disease.

a. Classic collagen defect -
b. Bones lack medullary canal and the end of long bones are bulbous
c. Single gene, LRP5 gene, defects may caused variations in bone density
and
d. Chalk stick type fracture are frequent complication

Answer 8

b. Bones lack medullary canal and the end of long bones are bulbous

a. Classic collagen defect - OI
c. Single gene, LRP5 gene, defects may caused variations in bone density - Osteopenia
and Osteoporosis
d. Chalk stick type fracture are frequent complication - Paget disease

Question 9

Consistent in Paget disease, EXCEPT:

a. Hallmark of Paget disease: Mosaic pattern of lamellar bone seen in sclerotic phase
b. Enlargement of craniofacial skeleton may produce Leontiasis ossea or Lion face
c. 50% of familiar Paget disease have mutation of SQSTM1 gene
d. Vertebral fractures occur more on thoracic and lumbar regions are painful

Answer 9

d. Vertebral fractures occur more on thoracic and lumbar regions are painful -
Osteopenia/porosis

Question 10

Hallmark of osteoporosis.

a. Weakened bone may lead to invagination of skull base
b. Normal bone but decreasing quantity
c. Laboratory: Elevated alkaline phosphatase but normal calcium and phosphorus
d. Reflects stone like quality of bones but abnormally brittle and fractures like a chalk

Answer 10

b. Normal bone but decreasing quantity

a. Weakened bone may lead to invagination of skull base - Pagets
c. Laboratory: Elevated alkaline phosphatase but normal calcium and phosphorus -
Pagets
d. Reflects stone like quality of bones but abnormally brittle and fractures like a chalk - Osteopetrosis

Question 11

51. Not true in osteopenia and osteoporosis
    a. Hormonal influence due to decreased causing persistent bone resorption and
    osteoclast recruitment via cytokines by increasing levels of RANKL gene
    b. Impairment of mineralization and results to accumulation of unmineralized matrix
    that prone to fracture
    c. Treatment: exercise, calcium and vitamin D intake, intake of bisphosphonates that reduce osteoclast activity.
    d. It cannot be reliably seen in plain xray. Best seen in dual energy cray or CT scan. Biopsy can also estimate bone loss

Answer 11

B. Impairment of mineralization and results to accumulation of unmineralized matrix

Question 12

This is the first genetic disease treated with stem cell transplantation

a. Osteoporosis
b. Osteopenia
c. Osteopetrosis
d. Osteoblastoma

Answer 12

C. Osteopetrosis

Question 13

Are manifestation of vitamin D deficiency or its abnormal metabolism except

a. Rickets
b. Osteomalacia
c. Accumulation of unmineralized matrix
d. A traumatic or vertebral compression fracture

Answer 13

d. A traumatic or vertebral compression fracture

Question 14

Not a consistent finding

a. In chronic renal insufficiency, there is inadequate 1,25 vitamin D synthesis leading to
decrease absorption of calcium in intestine
b. Hyperthyroidism leads to significant skeletal changes due to unabated osteoclast
activity. It can cause the so-called “Brown Tumor”.
c. Avascular necrosis biopsy usually affects medulla. Contents are not usually affected
due to collateral blood flow. Dead bone is seen as empty lacuna admixed with
necrotic fat cells.
d. Creeping substitution is seen in pyogenic osteomyelitis

Answer 14

d. Creeping substitution is seen in pyogenic osteomyelitis

Question 15

Is the result of unchecked hyperparathyroidism, or the overactivity of the parathyroid gland, which results in overproduction of parathyroid hormone (PTH).

a. Brown tumor
b. Osteitis fibrosa cystica
c. Paget’s
d. Osteopenia

Answer 15

B. Osteitis fibrosa cystica

Question 16

Estimate time for fracture healing: A combination of hematoma, matrix production and remodeling. This provides anchorage between ends of fractured bones but cannot support weight.

a. 24
b. 48
c. 1 week
d. 2 weeks

Answer 16

d. 2 weeks (2-3 weeks ang soft callus)

Question 17

Not a consistent association

a. Delayed union or malunion- caused by frequent movement of callus preventing
normal formation.
b. Pseudoarthrosis- a malformed callus degenerates into cyst and the resulting space
can become a false joint. This is common in open fractures.
c. Brodies abscess- small intraosseous abscess that frequently involves the cortex and
is walled off by reactive bone.
D. Sclerosing osteomyelitis of Garre- develops in the hips with extensive new bone
formation

Answer 17

D. Sclerosing osteomyelitis of Garre- develops in the hips with extensive new bone
formation

Question 18

Subchondral infarcts in avascular necrosis will cause
a. Delayed healing
b. Necrosis
c. Pain
d. fracture

Answer 18

C. Pain

Question 19

Not a prompt ????? pathogenesis in renal osteodystrophy

a. decreased production of secreted factors- kidney converts vitamin D to its active for,
vitamin D3. Damaged to kidney results to decreased vitamin D3 synthesis resulting
to hypocalcemia and secondary hyperparathyroidism
b. Generalized renal failure leads to reduced phosphate excretion, chronic hyperphosphatemia, hypocalcemia and secondary hyperparathyroidism
c. Estrogenous(??) cause results from fractures or corticosteroid administration
d. Tubular dysfunction- renal tubular acidosis have low pH dissolving bone
hydroxyapatite and c

Answer 19

C. Estrogenous(??) cause results from fractures or corticosteroid administration

Question 20

Not a finding in TB of bones

a. TB histologic hallmark: coagulative necrosis plus granuloma
b. Tuberculous spondylitis (POTT disease) involving the spine causing destruction of
disc
c. Organism is usually blood borne from active visceral focus
d. Tend to be destructive and resistant to control than pyogenic osteomyelitis

Answer 20

a. TB histologic hallmark: coagulative necrosis plus granuloma

Question 21

Not a finding in skeletal syphilis

a. Syphilitic Saber Shin is produced by massive reactive periosteal bone deposition on
the MEDIAL and ANTERIOR surfaces of tibia.
b. In acquired syphilis, bone disease begins early in the tertiary stage usually 2-5 years
after initial infection.
c. Histologic hallmark: edematous necrotic tissue with numerous plasma cells
d. Clinical course: 5 to 25% fails to resolve and persist as chronic infection

Answer 21

d. Clinical course: 5 to 25% fails to resolve and persist as chronic infection

Question 22

Not a characteristic of pyogenic osteomyelitis
a. 80-90% is caused by Staphylococcus aureus
b. Those with sickle cell disease are predisposed to Salmonella.
c. 50% of cases have no organisms isolated.
d. Usually involves the diaphysis because growth plate is not yet closed

Answer 22

d. Usually involves the diaphysis because growth plate is not yet closed

Question 23

Diagnose: Bony excess with cartilage cap

a. Osteochondroma
b. Osteoid osteoma
c. Chrondoma
d. Chondroblastoma

Answer 23

a. Osteochondroma

Question 24

Diagnose the case: destroy the medulla and cortex. Foamy cell is mixed with matrix

a. Adamantinoma
b. Chordoma
c. Osteoblastoma
d. Osteosarcoma

Answer 24

B. Chordoma

Question 25

Diagnose case: Extends from medulla to life periosteum, malignant cells producing woven bone

a. Adamantinoma
b. Ewing sarcoma
c. Osteoblastoma
d. Osteosarcoma

Answer 25

D. Osteosarcoma

Question 26

Not a feature of osteoid osteoma
a. Less than 2 cm, young men (teens,20’s)
b. Predilection in appendicular skeleton-50% femur or tibia typically arise in the
CORTEX.
c. Causes SEVERE NOCTURNAL PAIN that is relieved by aspirin or NSAIDS. Pain is caused
by prostaglandin E2 produced by proliferating osteoblast.
d. There is no marked bony reaction

Answer 26

d. There is no marked bony reaction

Question 27

4 year old girl came to the emergency room due to pain in the right thigh. After biopsy workup, the work impression is fibrous dysplasia. Has germline history of mazabraud’s syndrome. What clinical question you would ask during the interview of the patient?

a. If she has multiple fracture
b. If she has intramural myomas
c. If her heart has intramuscular myxomas
d. If she has multiple bone cyst

Answer 27

c. If her heart has intramuscular myxomas-di ko sure

Question 28

If the pattern of spread of bone cancer is via the Batson plexus of veins Spread is likely thru
a. Direct Extension
b. blood
c. Intraspinal
d. lymphatic

Answer 28

C. Intraspinal

Question 29

McCune-Albright syndrome: polyostotic disease, associated with endocrine abnormalities, especially precocious puberty and..

a. Multiple soft tissue myomas
b. ???? and prolactinemia
c. Delayed menopause
d. Café-au-lait skin pigmentation

Answer 29

d. Café-au-lait skin pigmentation

Question 30

Fibrous cortical defect and fibrous dysplasia are unusual developmental abnormalities; the latter is caused by somatic gain of-function mutations in the

a. FBD gene
b. CAAS gene
c. ???
d. GNAS1 gene

Answer 30

d. GNAS1 gene

Question 31

XRAY shows an expansile, well circumscribed lytic lesion with well-defined margins. Most show central lysis and a thin sclerotic “eggshell” of reactive bone at the periphery. Supporting trabeculae may create a “soap bubble” appearance on plain films and internal septae with air-fluid levels. What is the cause of cystic bone resorption of the disease ANS:

Answer 31

Ans: NF-kB, which in turn up-regulates expression of proteins, such as matrix metalloproteases, that lead to cystic bone resorption

Question 32

Not a consistent of aneurysmal bone cyst

a. Approximately one-third of cases contain an unusual densely calcified, basophilic
metaplastic matrix referred to as “blue bone.”
b. 70% of cases of ABC, chromosome 17p13 rearrangements.
c. Necrosis is common
d. The septa are composed of plump spindle cells, multinucleated osteoclast-like giant
cells, and reactive woven bone lined by osteoblasts.

Answer 32

c. Necrosis is common

Question 33

Not a consistent with diagnosis

a. Maffuci syndrome: EXT1 or EXT2 gene
b. high levels of RANKL tumor : Giant cell tumor
c. Homer wright rosettes: Ewing sarcoma
d. Dedifferentiated chondrosarcoma: is a low grade. Does not produce cartilage.

Answer 33

a. Maffuci syndrome: EXT1 or EXT2 gene

Question 34

90% of Ewing sarcomas contain a balanced translocation involving the EWSR1 gene on
chromosome 22 • FLI1 gene on chromosome 11, creating an EWSR1/FLI1 fusion gene. Xray will most likely show;

a. Moth eaten
b. lytic
c. Characteristic periosteal reaction: produces layers of reactive bone deposited in an
onion-skin fashion.
d. All of the above

Answer 34

d. All of the above

Question 35

This is a rare skeletal disorder characterized by abnormal bone development (skeletal
dysplasia). While this disorder may be present at birth, it may not become apparent until early childhood when symptoms such as deformities or improper limb growth are more obvious.

a. Marble Bone
b. Maffucci syndrome
c. Albers - shonberg disease
d. None of the above

Answer 35

d. None of the above

Question 36

X Ray shows bones lack medullary canal and the end of the long bones are bulbous (Erlenmeyer Flask)

a. Due to the mutations of carbonic anhydrase gene
b. Blue sclera due to Decrease collagen content
c. Producing shortening of terminal phalanges
d. Most common site is the metaphysis

Answer 36

a. Due to the mutations of carbonic anhydrase gene

Question 37

Characteristics but not diagnostic of osteosarcoma

a. Onion skinning
b. Extra calcification
c. Codman triangle

Answer 37

C. Codman triangle

Question 38

Most common form of skeletal malignancy

a. Osteosarcoma
b. Chondrosarcoma
c. Ewing sarcoma
d. metastasis

Answer 38

D. Metastasis

Question 39

Consistent with its features, except

a. Aneurysmal bone cyst - “egg shell and soap bubble”
b. Giant cell tumor - benign and locally aggressive
c. Ewing Sarcoma - Moth eaten
d. Osteoblastoma - mark bony eruptions

Answer 39

d. Osteoblastoma - mark bony eruptions