Term
| Cleft lip with or without cleft palate is more prevalent in which sex? |
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Definition
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Term
| Is one race more likely to have isolated cleft palate than another? (of white, blacks, and asians) |
|
Definition
| NO it's equal for the race groups |
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Term
| Isolated cleft palate is more prevalent in which sex? |
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Definition
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Term
| What percentage of orofacial clefts are associated with a syndrome? |
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Definition
| 30% (70% are nonsyndromic) |
|
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Term
| What is the most common syndrome associated with orofacial clefts? |
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Definition
| van der Woude syndrome (accounts for 2%) |
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Term
| What is the gene that codes for van der Woude syndrome? |
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Definition
IRF6 (Interferon regulatory factor 6)
- Regulatory region mutation - 18% NSCLP |
|
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Term
| What physical feature is associated with van der Woude syndrome? |
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Definition
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Term
| What are common manifestations of X-linked cleft palate? |
|
Definition
Cleft palate (obvs)
and Ankyloglossia |
|
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Term
| X-linked cleft palate is most commonly found in females or males? |
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Definition
| Males (because it's x-linked) |
|
|
Term
| What is the gene associated with X-linked cleft palate? |
|
Definition
| TBX22 (transcription factor that codes for a homeobox protein which are impt for regulatory processes during development) |
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Term
| TBX22 may contribute in about ____% of all cleft palate case |
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Definition
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Term
| What is the gene responsible for Cleft lip/Palate Ectodermal dysplasia syndrome? |
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Definition
| PVRL1 - autosomal recessive |
|
|
Term
| What does the PVRL1 gene encode? |
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Definition
| It encodes a protein that is involved in cell-cell adhesion |
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|
Term
| What are physical manifestations of cleft lip/palate ectodermal dysplasia syndrome? |
|
Definition
- Cleft lip w/wo CP
- Sparse hair, eyebrows
- Oligodontia
- Ectrodactyly |
|
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Term
| What are the 7 genes associated with nonsyndromic orofacial clefts? |
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Definition
Growth factors:
- TGF alpha,
- TGF beta3
Transcription factors:
- MSX1 (tooth agenesis)
- IRF6
- TP73L (p63)
Adhesion molecules:
- PVRL1
Folate Metabolism:
- MTHFR |
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Term
| List some environmental factors associated with nonsyndromic orofacial clefts |
|
Definition
Alcohol consumption (dose dependent)
Cigarette smoking - 1.5x greater risk
Vitamin deficiency
Infection (Rubella)
Drugs (Accutane, methotrexate, dilantin) |
|
|
Term
| Cigarette smoking + TGF alpha variant = how much great risk for cleft palate? |
|
Definition
|
|
Term
| Cigarette smoking + MSX1 variant = how much greater risk for cleft palate? |
|
Definition
| >7X risk for cleft lip/palate |
|
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Term
| What gene mutation is involved with Cherubism? |
|
Definition
SH3BP2 gene (autosomal dominant)
Increases activity of osteoclasts, and decreases differentiation of osteoblasts |
|
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Term
| A 5 year old patient presents with bilateral, posterior mandibular swelling. Radiographically we find that there are multilocular radiolucencies, leaving the condyle unaffected. What could this patient have? |
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Definition
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|
Term
| How would you treat a patient that is affected by cherubism? |
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Definition
You would only treat the patient if the lesions are large and inhibiting the child's ability to talk or eat.
But it is a self-limiting process, regresses after puberty. |
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Term
| A biopsied lesion looks like giant cell granuloma with vascular fibrous connective tissue. There are large multinucleated giant cells throughout. What would be a diagnosis? |
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Definition
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Term
| The Runx2/Cbfa1 genes are responsible for what genetic syndrome? |
|
Definition
| Cleidocranial dysplasia (autosomal dominant) |
|
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Term
| A patient comes in with severe midface hypoplasia, and no clavicles. What oral findings would you expect to see in the radiograph? |
|
Definition
Multiple supernumerary teeth, and severe crowding
(also open fontanelles)
Pt has cleidocranial dysplasia |
|
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Term
| Abnormalities in FGFR2 and FGFR3 genes is better known as what disorder? |
|
Definition
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Term
| What syndrome is characterized by the premature fusion of the sutures in the skull? |
|
Definition
Crouzon's Syndrome
This leads to increase intracranial pressure - mental retardation. Hearing, speech, and visual abnormalities. Convulsions |
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Term
| A cephalometric xray is taken showing a "hammered metal appearance." What syndrome could the patient have? |
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Definition
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|
Term
| Which genetic syndrome is characterized by mandibulofacial dysostosis, with the midface and mandible looking very hypoplastic? |
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Definition
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|
Term
| Variation in the TCOF1 gene leads to what genetic syndrome? |
|
Definition
| Treacher-collins syndrome (autosomal dominant) |
|
|
Term
| What disorder is characterized by defective osteoclast function? |
|
Definition
|
|
Term
| Delayed dental eruption, malformed teeth, hypoplasia, and cranial nerve compression are all possible results of what disorder? |
|
Definition
|
|
Term
| What are the 3 phases of Paget's disease? |
|
Definition
1) resorptive phase
2) Vascular phase
3) sclerosing phase |
|
|
Term
| What are some dental manifestations of Paget's disease? |
|
Definition
Loose or ill-fitting dentures
Shifting teeth or swelling of the bone |
|
|
Term
| Paget's disease would show what kind of appearance radiographically? |
|
Definition
|
|
Term
| Histologically you see dense bone with irregular reversal lines from disordered bone remodelling. what disease could it be? |
|
Definition
|
|
Term
| How can you treat pagets disease? |
|
Definition
| Bisphosphonates, calcitonin |
|
|
Term
| What are the genetic factors that contribute to pagets disease? |
|
Definition
NFkappaB
RANK (signalling pathway for generation of osteoclasts) |
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