6-Genetic diseases Flashcards
The most inherited bone disease?
Osteogenesis Imperfecta
What disease causes bone fragility, deformity, and blue sclera?
Osteogenesis Imperfecta
What disease causes teeth to appear opalescent?
Osteogenesis (dentinogenesis) Imperfecta?
Rare form of Osteogenesis Imperfecta?
florid cemento-osseous dysplasia
What is Osteopetrosis (Marble bone disease)
defect in osteoclast formation forming a sclerotic skeleton,
How does Osteopetrosis (Marble bone disease) affect dentistry?
jaw affected, denser bone but more fragile to fracture, fracture and osteomyelitis after tooth extraction
What is Cleidocranial Dysplasia?
defect in osteoblasts and chondrocytes
How does Cleidocranial Dysplasia affect the mouth?
retention of deciduous teeth
delayed permanent teeth eruption
supernumerary teeth
narrow high arched palate
What is Cherubism?
bilateral posterior mandibular painless swelling, maxillary swelling push the orbital base upward, upturned eyes, rounded face
Who does Cherubism affect?
7 y/o avg. but 14 months to 12 y/o, progresses until puberty then slowly regresses
How does cherubism look radiographically?
multilocular radiolucency in posterior mandible, from Md notch to Md notch
What is Hypophosphatasia?
mutation of alkaline phosphatase
reduced levels of ALP in liver, bone, kidney, intestine and serum
How does Hypophosphatasia affect the mouth?
premature loss of primary/permanent teeth due to lack of cementum
What is Vitamin D-resistant Rickets?
Decreased reabsorption of phosphate from renal tubules and decreased intestinal absorption of calcium
How does Vitamin D-resistant Rickets affect the mouth?
Large pulp horns extending to DEJ
Cleft in dentin
Periapical abscess
