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Flashcards in Bone Deck (64)
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1

Osteogenesis imperfecta: secondary to mutation in either the _ or _ genes, which guide type 1 collagen formation

COL1A1 or COL1A2

2

osteopenia, bowing, angulation, or deformity of long bones; multiple fractures; wormian bones of the skull

osteogenesis imperfecta

3

most common and least severe form of osteogenesis imperfecta, moderately severe bone fragility, blue sclera, hearing loss before age 30, some show opalescent teeth

type 1

4

most severe form of osteogenesis imperfecta, extreme bone fragility with frequent fractures, blue sclera, some opalescent teeth

type 2

5

most severe form of osteogenesis imperfecta beyond perinatal period; moderately severe bone fragility, blue sclera, kyphoscoliosis, some opalescent teeth

type 3

6

type _ of osteogenesis imperfecta; mild to moderate bone fragility, blue sclera fades with age, bone fractures, decrease after puberty, some opalescent teeth

type 4

7

hereditary disorder characterized by increased bone density; secondary to defect in osteoclastic function; the defect results in thickening of cortical bone and sclerosis of cancellous bone

osteopetrosis

8

_ form of osteopetrosis: normocytic anemia, symptoms secondary to cranial nerve pressure, pathologic fracture, skull deformities, hypertelorism, delayed tooth eruption, autosomal recessive

infantile (malignant)

9

_ form of osteopetrosis: milder, typically detected upon routine radiograph, no anemia, no cranial nerve compression, uncommon pathologic fracture, osteomyelitis, autosomal dominant

adult (benign)

10

numerous osteoclasts; lack of howship's lacunae; dense bone formation

osteopetrosis

11

hereditary bone defect of the bone and clavicles; secondary to defect in the CBFA 1 gene, which guides osteoblastic diffentiation and bone formation; autosomal dominant inheritance pattern

cleidocranial dysplasia

12

frontal and parietal bossing; ocular hypertelorism; mid-face hypoplasia; open fontanels and wormian bones

cleidocranial dysplasia

13

hypoplasia or absence of clavicles; oral: numerous unerupted and supernumerary teeth, high arched palate

cleidocranial dysplasia

14

harmless process that may mimic pathology; may be secondary to aberrant bone regeneration following extraction, persistance of fetal marrow, and/or marrow hyperplasia

focal osteoporotic marrow defect

15

F>M, posterior mandible, asymptomatic, ill-defined radiolucency with fine trabeculations; normal bone, cellular hematopoietic marrow

focal osteoporotic marrow defect

16

focal area of bone density of unknown etiology; often confused with condensing osteitis

idiopathic osteosclerosis

17

age 20-40; mandibular first molar area; asymptomatic; well defined area of radiopacity

idiopathic osteosclerosis

18

disease of bone characterized by abnormal resorption and deposition of bone; unknown etiology; evidence has suggested a possible viral etiology; recent gene mutations have also been identified

paget's disease of bone (osteitis deformans)

19

M>F; older individuals; monostotic vs. polyostotic; thickened enlarged, and weakened bones; often painful

paget's disease

20

maxilla>mandible, enlarged alveolar ridges, may see spacing of the teeth

paget's disease

21

radiograph: early- decreased radiodensity and altered trabeculation, later- patchy, sclerotic bone (cotton wool), hypercementosis

paget's disease

22

increased serum alkaline phosphatase; normal calcium and phosphorous levels; elevated urinary hydroxyproline; osteoblastic formation and osteoclastic resorption of bone; basophilic reversal lines (mosaic or jigsaw pattern)

paget's disease

23

_ develops in about 1% of Paget's patients

osteosarcoma

24

non-neoplastic lesion of the jaws; significance lies in differentiation from brown tumor of hyperparathyroidism and association with cherubism

central giant cell granuloma

25

F>M, aggressive vs. non-aggressive, typically painless expansile, mandible, anterior to the first molar, may cross the midline, unilocular to multilocular radiolucency

central giant cell granuloma

26

spindle cell proliferation with variable numbers of multinucleated giant cells, erythrocytic extravasation and hemosiderin deposition, may see osteoid

central giant cell granuloma

27

rare autosomal dominant condition of the jaws, children, painless bilateral expansion, usually involves the posterior mandible

cherubism

28

"eyes turned up to heaven" appearance, multilocular, expansile radiolucencies, Noonan-like syndrome

cherubism

29

giant cell granuloma with more loosely arranged stroma, giant cells are focally aggregated, eosinophilic hyaline angiopathy

cherubism

30

benign empty or fluid-filled cavity of uncertain pathogenesis; actually not a true cyst (no epithelial lining); trauma-hemorrhage theory is probably the most popular of the potential explanations; others include ischemic necrosis, growth disturbances

traumatic bone cyst (simple bone cyst)