Oral Path VI - GMFF Flashcards
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