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