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Flashcards in DBD Deck (59)
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1

______ ______ is one of the most common heritable bone diseases

Osteogenesis Imperfecta

"brittle bone disease"

2

Osteogenesis imperfecta is characterized by a mutation in the ______ gene:

-Abnormal _____
-_______

collagen gene

-Abnormal mineralization
-Osteopenia (low bone density)

3

What is the heritable variation of osteogenesis imperfecta (AD vs AR)

Autosomal dominant: 90%

Autosomal recessive: 10%

4

Clinical (non-dental) findings of osteogenesis imperfecta:

-Blue sclera

-Hearing loss

-Craniofacial alterations (CL III occl.; triangular face)

-Bowing deformity of bones

5

Clincal dental findings of osteogenesis imperfecta:

Identical to dentogenesis imperfecta:

-blue/yellow/brown translucensy ("opalescent")
-severe attrition (loss of VDO)

6

Radiographic findings of osteogenesis imperfecta:

-"shell teeth"

-pulpal obliteration

-roots narrow/corn cob shaped

7

Tx of osteogenesis imperfecta:

-Classically: physiotherapy, rehab, and orthopedic surgery

-Minimize factors that cause fractures

-IV bisphosphonates to kids w/ mod-severe disease

8

Prognosis of osteogenesis imperfecta:

Variable depending on type/gene expression

Normal - death at birth

9

_____ is characterized by a lack of osteoclastic activity (continued bone formation and ossification)

Osteopetrosis

10

Compare AD osteopetrosis vs AR osteopetrosis

AD: less severe

AR: severe
-blindness
-deafness
-fractures
-osteomyelitis (infection/inflammation of marrow)

11

In osteopetrosis, marrow spaces are filled by ___ ___ resulting in loss of _____ ____ which results in _____

In osteopetrosis, marrow spaces are filled by dense bone resulting in loss of hematopoietic precursors which results in pancytopenia (deficiency of all blood cell types)

12

Radiographic presentation of osteopetrosis:

-Diffuse density of skeleton

-tooth roots hard to visualize (dense bone surrounds them)

-Failure of eruption

13

Tx of osteopetrosis:

-Supportive: transfusion and AB when necessary

-Marrow transplant = limited success

-Alternative: interferon w/ calcitriol and restrition of Ca2+ intake, corticosteroids, and EPO

14

Prognosis of osteopetrosis:

AD: long term survival possible

AS: poor (life expectancy <20)

15

_____ _____ is an AD disorder that mainly affects the skull, jaws, and clavicles

Cleidocranial dysplasia

16

Clinical presentation of cleidocranial dysplasia

-Prominent forehead and hypoplastic face

-Primary dentition retained (permanent present but un-erupted)

17

Tx and Prognosis of cleidocranial dysplasia

Tx:
-Surgery: correct skeletal relations and remove supernumerary teeth
-Ortho: correct tooth relations

Prognosis: Good (essentially normal lifespan)

18

Osteoporotic bone marrow defect presentation and epidemiology:

-Asymptomatic: incidental finding

-Body of mandible at an old extraction site

-Middle aged females

19

Osteoporotic bone marrow defect histopathology:

-Fatty and hematopoietic marrow seen

-May resemble metastatic disease (BIOPSY!)

20

Osteoporotic bone marrow defect radiographic findings:

PANO: radiolucent and circumscribed

PA: ill-defined borders and fine central trabeculations

21

Idiopathic osteosclerosis is an ______ (incidental finding), _____ lesion with no expasion.

It is also known as ____ ____ ___ and _____

Idiopathic osteosclerosis is an asymptomatic (incidental finding), radiopaque lesion with no expasion.

It is also known as "dense bone island" and "enostosis"

22

Idiopathic osteosclerosis is most commonly found in the _____ region and consists of _____ ____ ____

premolar region

dense viable bone

23

What three lesions is idiopathic osteosclerosis often confused with?

Condensing osteitis

Hypercementosis

Cementoblastoma

24

_____ is a painless, bilateral expansion of the jaw; it may also involve the ____ ___ and cause displacement of teeth

Cherubism

orbital wall

25

Cherubism is _____ ____ or a ___ ___ mutation; it is detected in ______

Autosmal dominant or de novo mutation

childhood

26

Radiographic presention of cherubism:

Bilateral, multilocular radiolucencies of posterior mandible

27

Histologic presentation of cherubism:

-Edematous, cellular fibrous CT w/ hemorrhagic background

-Sparse, benign-appearing multinucleated giant cells

-Perivascular hyalinization (sometimes)

28

Tx of cherubism:

NO optimal Tx

-Surgery known to accelerate growth of some lesions

-Some cases involute during puberty

29

_____ ____ ___ is an idiopathic (possibly trauma induced) lesion that presents in the 1st and 2nd decade with a ____ predilection

Simple bone cyst

male

aka "traumatic bone cyst"

30

Simple bone cyst clinical and radiographic presentation:

-Posterior mandible (reported in all bones)

-Well-circumscribed radiolucency with scalloping between roots

-Empty cavity w/in bone with no epithelial lining (not a true cyst)