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30 Cards in this Set
- Front
- Back
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An example of a genetic bond disorder that consists of extra digits is known as?
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Polydactyly
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A very common congenital defect with extra fingers and toes is known as?
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Polydactyly
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How common is Polydactyly? Not Common, Common or Very Common?
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Very common congenital defect.
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An example of genetic bone disorder that is known as Dwarfism is called?
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Achondroplasia
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You see a midget walking down the sidewalk and you automatically think that the disorder they have is:
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Acondroplasia
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A genetic bone disorder that is of autosomal dominant transmission has a mutation on the FGFR3 gene on chromosome #4. What specific type of cell will it affect?
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Fibroblasts.
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A genetic bone disorder that just affects long bones (aka limbs are shorter) and does not affect torso & vetebral length is known as?
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Acondroplasia
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In achondroplasia, what causes abnormally short limbs? What's the mechanism?
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Impaired epiphyseal cartilagionous growth.
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Gene wise, what is going on in Achondroplasia?
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Mutation on the FGFR3 gene on chromosome 4. Mutation leads to sustained activation of FGFR3 gene = inhibition of cartilage growth at epiphyseal growth plates = abnormally SHORT long bones.
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Which is more common, Achondroplasia or Pituitary Dwarfism?
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Achondroplasia.
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what bone disorder affects long bones leaving intramembranous bones normal (head, pelvis, jaw) ?
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Achondroplasia
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A bone disorder also known as "Brittle Bone Disease" is called?
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Osteogenesis Imperfecta.
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Why is Osteogenesis IMperfecta also known as "Brittle Bone Disease?"
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Because bone sustains multiple pathologic fractures.
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In Osteogenesis IMperfecta is there pathologic fractures involved?
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yes.
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what are pathologic fractures?
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fractures occuring when a small amount of force is placed on the bone. . . whereas if the pt was healthy, bone would not fracture. it's due to NON HEALTH!
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Falling from the balcony and breaking bones: classified as a traumatic fracture or a pathologic fracture?
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traumatic fracture
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in osteogenesis imperfecta, what type of cell is affected?
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type I collagen matrix
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what type # of collagen is affected in osteogenesis imperfecta?
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type I
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type I collagen matrix constitues 90% of bone matrix. abnormalities in the synthesis of it leads to the bone disorder known as?
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Osteogenesis imperfecta.
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T/F: in osteogenesis imperfecta there are MULTIPLE different gene mutations that can cause the disease and clinical severity varies accordingly.
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True.
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in osteogenesis imperfecta fractures and deformity are common starting when? Due to multiplicity fractues this results in what?
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Infancy!
Skeletal deformity. |
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Can osteogenesis imperfecta happen in utero?
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yes
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what are "sitting deformities" in regrads to osteogenesis imperfecta?
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when the deformitiy happens in UTERO: bones break and heal in utero and thus you get "sitting deformities" bc bones are broken and then healed. . . looks like baby is sitting even though they are not. lots of bends in the bones.
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What is Blue Sclera pathogneumonic for?
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NOT for Osteogeneisis Imperfecta. It's a characteristic, but it is not pathogneumonic.
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what can you see in the eyes of a person who has osteogenesis imperfecta?
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blue sclera. NOT pathogneumonic.
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Why does blue sclerae happen in osteogenesis imperfecta?
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because there is insufficient type I collagen in the sclera, hence we see blue.
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Osteogenesis imperfecta is often accompanited by what other type of imperfecta?
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DENTIOGENESIS imperfecta.
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what is dentinogenesis imperfecta? & what disorder is it associated with?
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Dentinogenesis imperfecta is when enamel just pops off the dentil! Abnormally colored dentil & abnormal DEJ. Enamle is worn off, leaving AMBEr colored dentin, hence TEETH DECAY EASILY! Often accompaning Osteogenesis Imperfecta.
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What ist he prognosis for a pt with Osteogenesis imperfecta?
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They can have a normal lifespan, but they are wheel chair bound!
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your patient wheels in and says she has Osteogenesis Imperfecta. What characteristcs will you notice in her eyes & teeth ?
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She will have blue sclerae and amber colored dentin (dentinogenesis imperfecta).
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