Bone Flashcards
Osteogenesis imperfecta: secondary to mutation in either the _ or _ genes, which guide type 1 collagen formation
COL1A1 or COL1A2
osteopenia, bowing, angulation, or deformity of long bones; multiple fractures; wormian bones of the skull
osteogenesis imperfecta
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
most severe form of osteogenesis imperfecta, extreme bone fragility with frequent fractures, blue sclera, some opalescent teeth
type 2
most severe form of osteogenesis imperfecta beyond perinatal period; moderately severe bone fragility, blue sclera, kyphoscoliosis, some opalescent teeth
type 3
type _ of osteogenesis imperfecta; mild to moderate bone fragility, blue sclera fades with age, bone fractures, decrease after puberty, some opalescent teeth
type 4
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
_ form of osteopetrosis: normocytic anemia, symptoms secondary to cranial nerve pressure, pathologic fracture, skull deformities, hypertelorism, delayed tooth eruption, autosomal recessive
infantile (malignant)
_ form of osteopetrosis: milder, typically detected upon routine radiograph, no anemia, no cranial nerve compression, uncommon pathologic fracture, osteomyelitis, autosomal dominant
adult (benign)
numerous osteoclasts; lack of howship’s lacunae; dense bone formation
osteopetrosis
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
frontal and parietal bossing; ocular hypertelorism; mid-face hypoplasia; open fontanels and wormian bones
cleidocranial dysplasia
hypoplasia or absence of clavicles; oral: numerous unerupted and supernumerary teeth, high arched palate
cleidocranial dysplasia
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
F>M, posterior mandible, asymptomatic, ill-defined radiolucency with fine trabeculations; normal bone, cellular hematopoietic marrow
focal osteoporotic marrow defect
focal area of bone density of unknown etiology; often confused with condensing osteitis
idiopathic osteosclerosis
age 20-40; mandibular first molar area; asymptomatic; well defined area of radiopacity
idiopathic osteosclerosis
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)
M>F; older individuals; monostotic vs. polyostotic; thickened enlarged, and weakened bones; often painful
paget’s disease
maxilla>mandible, enlarged alveolar ridges, may see spacing of the teeth
paget’s disease
radiograph: early- decreased radiodensity and altered trabeculation, later- patchy, sclerotic bone (cotton wool), hypercementosis
paget’s disease
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
_ develops in about 1% of Paget’s patients
osteosarcoma
non-neoplastic lesion of the jaws; significance lies in differentiation from brown tumor of hyperparathyroidism and association with cherubism
central giant cell granuloma
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