Test Two Flashcards
What gene is associated with Turner Syndrome?
SHOX gene
What genetic change causes DiGeorge Syndrome?
Deletion in the q arm of chromosome 22
Mutations in which three genes can lead to Amelogenesis Imperfecta?
- AMELX, 2. ENAM and 3. MMP20
What two genes are associated with Osteogenesis Imperfecta?
- COL1A1 and 2. COL1A2
What gene is disrupted in Holoprosencephaly?
Sonic Hedgehog
What gene is disrupted in Apert’s syndrome?
FGFR2
What gene is disrupted in Carpenter’s Syndrome?
RAB23
What gene is disrupted in Crouzon’s Syndrome?
FGFR2
What gene is disrupted in Pierre Robin Sequence?
SOX9
What are the four areas of study in the craniofacial complex?
- Cranial vault, 2. Cranial base, 3. Nasomaxillary and 4. Mandible
What is the most complex structure in the human skeleton?
Cranial Base
What is the first region of the skull to reach adult size?
Cranial Base
What are the three synchondroses of the cranial base called?
- Spheno-occipital, 2. Inter-sphenoid and 3. Spheno-ethmoid
When do the inter-sphenoid and sphenoid-ethmoid stop growing?
Around 7 years old
What cartilage is associated with the growth of the maxilla?
The cartilage of the nasal capsule
Where is the center of ossification for the maxilla?
Between the anterosuperior alveolar nerve and the inferior orbital nerve
What two forces displace the maxilla downwards and forwards?
- Push from behind from cranial base growth and 2. Growth of sutures
During which week of development do the upper and lower joint cavities of the mandible form?
12
What muscle displaces the mandible after it has been fractured?
Lateral Pterygoid muscle
What are two examples of growth sites?
- Sutures and 2. Condyles
What is an example of a growth center?
Synchondroses
What is primary cartilage?
Cartilage that is stimulated by systemic growth stimuli and is present in growth centers
What is Secondary Cartilage?
Cartilage that must be acted on by local growth factors and is present in growth sites
What theory of growth holds that mechanical strains cause the collagen crystals in bone to morph and modifies their signals to osteoclasts/osteoblasts?
Bioelectric Signals Theory
What is Wolff’s law?
That bones will adapt to the loads they are placed under
What is the Mechanostat?
A theory that bone and muscle quantities correlate and that working out builds bones
What is the Functional Matrix Theory?
That neither bone nor cartilage dictates the growth of the facial bones, but the soft tissue does.
So what primarily affects mandibular growth?
Soft tissue changes
