Oral Path VI - GMFF Flashcards
(221 cards)
Term used to describe host of Genetic Diseases including OI, Osteoporosis, Cleidocranial dysplasia, cherubism, hypophosphatasi, vitD resistant Rickets
Metabolic diseases like Rickets, osteomalcia, hyperparathyroidism, renal osteodystrophy
Others: Pagets, fibrous dysplasia, aneurysmal bone cyst, idopathic osteosclerosis, focal osteoprotic bone marrow defect, MRONJ
Osteodystrophy
What is the most common inherited bone disease?
Osteogenesis Imperfecta
OI is a mutation is what type collagen?
either this gene on this chromosome:
or this gene on this chromosome:
Collagen type I
COL1A1, Chromosome 17
COL1A2, Chromosome 7
OI, includes bone fragility/deformity, joint ________, loss of ________, blue _____
______ teeth if dentinogenesis imperfecta
hyperextensibility, hearing, sclera
opalescent
OI type I-IV inherited how?
Autosomal Dominant or Recessive
*severity varies
Abnormal collagen in OI results in bone with thin ______
Osteoporosis, soft, prone to fracture, bowing, angulation, deformity
Cortex
OI Tx: Physiotherapy, Ortho surgery, and what drugs?
Bisphosphonates (either IV or oral)
Long term use in Bisphosphonates for pedo pts with OI is unknown
True
Marble Bone Disease:
Osteoporosis
Osteoporosis (marble bone disease) is a defect in _______ function
Mutation in the _____ subunit of the osteoclast vacuolar proton pump (50-60%)
More severe form is a mutation in the _______ (CLCN7, 10-15%)
osteoclast
A3
Chloride
Infantile osteoporosis inherited how?
Adult osteoporosis inherited how?
Autosomal Recessive
Auto Dominant
Infantile Osteoporosis (AutoRecessive) is severe, sclerotic, ______ failure, _____ deformity, and _______ deficit
Adult osteoporosis (AutoDom) is mild and __% asymptomatic
Marrow, Facial, Neuro
40%
In osteoporosis bones are more dense, but more fragile
True
Osteoporosis dental considerations: 2 complications post extraction?
Fracture
Osteomyelitis
Infantile Osteoporosis the prognosis is ______
Adult has ______ prognosis,
Tx (adult) is _______
poor
variable
marrow
Cleidocranial dysplasia is genetic and a defect in the differentiation of _______ and a subset of _______
osteoblasts
chondrocytes
Defect in osteoblasts and a subset of chondrocytes
Cleidocranial Dysplasia
Cleidocranial dysplasia inheritance is:
or:
Specifically a mutation on the _____ gene of chr ____
AutoDom
Somatic mutation
RUNX2, 6p21
Short stature, frontal bossing, patent fontanels, late closure of cranial sutures, absence/hypoplasia of clavicles:
Cleidocranial Dysplasia
Cleidocranial Dysplasia - describe 3 aspects affect teeth:
Deciduous retention
Delayed eruption permanent teeth
Supernumerary
Prognosis, Cleidocranial dysplasia:
Plan dental Tx on clinical findings
good
True
Cherubism inheritance:
chr ______
or…
AutoDom
4p16
spontaneous
Cherubism Mn manifestations:
Mx manifestations:
bilateral posterior painless swelling
swelling pushes orbits up, rounds face
Avg age Cherubism:
Radiographic
7
Mn multilocular, bilateral, posterior lucencies w/ Mx involvement