Exam 6-OsteoDystrophy-Genetic Flashcards
Don’t you love these BROAD questions?? What are the 6 GENETIC diseases that lead to OsteoDystrophy?
- Osteogenesis Imperfecta 2.OsteoPETrosis 3.CleidoCranial Dysplasia 4.Cherubism 5.Hypophosphatasia 6.Vit D-resistant RICKETS
Don’t you love these BROAD questions?? What are the 4 METABOLIC diseases that lead to OsteoDystrophy?
- rickets 2.osteomalacia 3.hyperparathyroidism 4.renal osteodystrophy
Don’t you love these BROAD questions?? What are the 6 osteodystophic diseases WITH UNKNOWN or OTHER causes (than genetic or metabolic)??
1.Paget’s disease of bone 2.Fibrous dysplasia 3.aneurysmal bone cyst 4.idiopathic osteosclerosis 5.focal osteoporotic bone marrow defect 6.bisphosphonate- associated osteonecrosis of jaw
What is the most common inherited bone disease?
Osteogenesis Imperfecta
What is affected by the mutation in Osteogenesis Imperfecta?
Collagen Type I
Which genetic disease will your patient have an extensive Med Hx of bone fractures?
Osteogenesis Imperfecta
What is the TRADEMARK sign of Osteogenesis Imperfecta in the eye?
Blue Sclera
What is the variant of Osteogenesis Imperfecta that shows OPALESCENT teeth?
DentinoGenesis Imperfecta
(Aside, because you suck so much at this) What happens to the pulp in dentinogenesis imperfecta?
NO PULPS! They are OBLITERATED (I think I put enlarged pulps on a previous test)
Osteogenesis Imperfecta Types I-IV have what kind of genetic inheritance? What about their severity?
EITHER autosomal DOMINANT OR RECESSIVE..severity varies
What is the other form of dysplasia associated with Osteogenesis Imperfecta in RARE cases?
FLORID cemento-osseua dysplasia
In osteogenesis Imperfecta abnormal ______ results in bones with a thin _____ and osteoporosis which are soft and prone to fracture
collagen…CORTEX
In osteogenesis imperfecta, bones characterized by ______, angulation and deformity
BOWING
What are the two main treatement types for Osteogenesis Imperfecta?
1.Pysiotherapy, orthopedic surgery 2. BISPHOSPHONATES!!
What is the offical name of “Marble Bone disease”?
Osteo-PET-rosis (why does this remind me of David Patraeus?)
OsteoPETrosis is a defect in ______ funciton
osteoclast
OsteoPETrosis-the NITTY GRITTY: Mutations in the ___ subunit of the osteoclast vacuolar pump (50-60% of the time), if its the CLCN7: _______ channel (10-15% of the time)….WHICH of these two is the more SEVERE form?
A3…cholride channel…the chloride channel is the more SEVERE form
What type of genetic inheritance is infantile osteoPETrosis?
Autosomal Recessive
In infantile osteoPETrosis: Severe, _______ skeleton, ______ failure [ANEMIA, hepatosplenomegaly, osteomyelitis result], facial deformity and neurological deficit [paralysis, blindness, deafness]
sclerotic skeleton…marrow
What type of genetic inheritance is ADULT osteoPETrosis?
Autosomal DOMINANT
How severe is ADULT osteoPETrosis? What % is asymptomatic?
it is MILD….40% are asymptomatic
Why does hepatoSplenomegaly result from infantile osteoPetrosis?
No bone marrow, the other blood cell making organs step their games up
Dental Implications of OsteoPETrosis: Although bones are _______, they are more ______
DENSER….fragile
Dental Implications of OsteoPETrosis: which part of the face/mouth are affected?
JAWS are affected by osteoPETrosis (easy card, I know)
Dental Implications of OsteoPETrosis: Fracture and ________ after tooth extraction a problem
OSTEOMYELITIS
Management of a OsteoPETrosis patient: if its a case of ________ osteoPETrosis, the patient will have a POOR prognosis :(
infantile
Management of a OsteoPETrosis patient: An adult will have a ________ prognosis, some long term survival
variable
Management of a OsteoPETrosis patient: what is the current treatment?
bone marrow transplant
In cleido-cranial dysplasia, there is a defect in the differentiation of what two types of cells?
osteoblasts and chondrocytes
What type of genetic inheritance is CleidoCranial Dystrophy? BUT WAIT, it could also just be a ______ mutation…
Autosomal DOMINANT or a somatic mutation
CleidoCranial dystrophy can be described with: Short statue, frontal ______, ______ fontanels, late closure of cranial sutures, absence or hypoplasia of WHAT BONES?
bossing…patent…clavicals
Along with these oral manifestations of CleidoCranial Dysplasia: Retention of deciduous teeth, delayed eruption of permanent teeth, ± narrow high arched palate…WHAT IS ONE MORE CLASSIC sign???
SUPERNUMERARY TEETH
What is the prognosis for a patient with CleidoCranial Dysplasia?
Its GOOD, no tx nec.
What type of Genetic inheritance is Cherubism? BUT WAIT, it could also be SPONTANEOUS ________
AUTOSOMAL DOMINANT…or spontaneous mutation
In Cherubism the manifestations are bilateral post. mandibular painless _______, maxillary swelling push the orbital base upward, _______ eyes, rounded face
SWELLING…UPTURNED eyes
Interesting note about the progression of Cherubism- it can start as young as 14 months, but the average age of its onset is ___ years old…THEN once ________ hits it can slowly REGRESS!
7 years old…pooberty
THE VERY DISTINCT Radiographic manifestation of WHICH CONDITION??: Radiographic features: radiolucency, usually multilocular, bilateral of Post Md, often from Md notch on one side to contralateral side
Cherubism
THE VERY DISTINCT Radiographic manifestation of Cherubism: Radiographic features: radiolucency, usually _____locular, bilateral of Post Md, often from ______ on one side to contralateral side
multiLocular…mandibular notch
What is the HALLMARK histological feature of Cherubism? (What type of cells/structure)
Giant Cell granulomas
What type of osteodystrophy occurs from mutations of non-specific alkaline phosphatase (liver-, bone-, or kidney-type)?
Hypo-Phosphat-ASIA
What is the main way someone aquires HypoPhosphatAsia?
it is inherited, EITHER autosomal DOMINANT or recessive
What is the dental manifestation of HypoPhosphatASIA?
premature LOSS of primary (OR permanent) teeth due to LACK OF CEMENTUM
In HypoPhosphatASIA teeth fall out prematurely because of lack of WHAT tooth structure?
cementum
What is the common name for Hereditary HypoPhosphaEmia?
Vitamin D-Resistant Rickets
What type of genetic inheritance is Vitamin D-resistant rickets?
X-linked DOMINANT
In Vitamin D-Resistant rickets there is a decreased reabsorption of ______ from renal tubules, decreased intestinal absorption of ______; hypophosphatemia
phosphate…calcium
Which genetic osteodystrophy presents with LARGE pulp horns extending in to the DEJ?
Vitamin D-resistant Rickets (hereditary hypophosphatemia)
in Vitamin D-resistant Rickets, the pulp does into the DE which opens the door for ______ in the dentin and possibly ________
clefts….periapical abscess
Which part of a patient’s body is shortened in Vitamin D-resistant Rickets?
lower body
