• Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off

Card Range To Study



Play button


Play button




Click to flip

Use LEFT and RIGHT arrow keys to navigate between flashcards;

Use UP and DOWN arrow keys to flip the card;

H to show hint;

A reads text to speech;

30 Cards in this Set

  • Front
  • Back
An example of a genetic bond disorder that consists of extra digits is known as?
A very common congenital defect with extra fingers and toes is known as?
How common is Polydactyly? Not Common, Common or Very Common?
Very common congenital defect.
An example of genetic bone disorder that is known as Dwarfism is called?
You see a midget walking down the sidewalk and you automatically think that the disorder they have is:
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?
A genetic bone disorder that just affects long bones (aka limbs are shorter) and does not affect torso & vetebral length is known as?
In achondroplasia, what causes abnormally short limbs? What's the mechanism?
Impaired epiphyseal cartilagionous growth.
Gene wise, what is going on in Achondroplasia?
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.
Which is more common, Achondroplasia or Pituitary Dwarfism?
what bone disorder affects long bones leaving intramembranous bones normal (head, pelvis, jaw) ?
A bone disorder also known as "Brittle Bone Disease" is called?
Osteogenesis Imperfecta.
Why is Osteogenesis IMperfecta also known as "Brittle Bone Disease?"
Because bone sustains multiple pathologic fractures.
In Osteogenesis IMperfecta is there pathologic fractures involved?
what are pathologic fractures?
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!
Falling from the balcony and breaking bones: classified as a traumatic fracture or a pathologic fracture?
traumatic fracture
in osteogenesis imperfecta, what type of cell is affected?
type I collagen matrix
what type # of collagen is affected in osteogenesis imperfecta?
type I
type I collagen matrix constitues 90% of bone matrix. abnormalities in the synthesis of it leads to the bone disorder known as?
Osteogenesis imperfecta.
T/F: in osteogenesis imperfecta there are MULTIPLE different gene mutations that can cause the disease and clinical severity varies accordingly.
in osteogenesis imperfecta fractures and deformity are common starting when? Due to multiplicity fractues this results in what?
Skeletal deformity.
Can osteogenesis imperfecta happen in utero?
what are "sitting deformities" in regrads to osteogenesis imperfecta?
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.
What is Blue Sclera pathogneumonic for?
NOT for Osteogeneisis Imperfecta. It's a characteristic, but it is not pathogneumonic.
what can you see in the eyes of a person who has osteogenesis imperfecta?
blue sclera. NOT pathogneumonic.
Why does blue sclerae happen in osteogenesis imperfecta?
because there is insufficient type I collagen in the sclera, hence we see blue.
Osteogenesis imperfecta is often accompanited by what other type of imperfecta?
what is dentinogenesis imperfecta? & what disorder is it associated with?
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.
What ist he prognosis for a pt with Osteogenesis imperfecta?
They can have a normal lifespan, but they are wheel chair bound!
your patient wheels in and says she has Osteogenesis Imperfecta. What characteristcs will you notice in her eyes & teeth ?
She will have blue sclerae and amber colored dentin (dentinogenesis imperfecta).