Genetics

Question 1

a cyclic decrease in the number of circulating neutrophils; severe ulcerative gingivitis and craterlike ulcers on the tongue and mucosa

Answer 1

cyclic neutropenia

Question 2

destruction of periodontal tissues and hyperkeratosis of the palms of hands and soles of the feet; at about 2 years of age a gingivoperiodontal inflammatory process develops; all perm teeth are lost before age 14

Answer 2

papillon- lefevre Syndrome

Question 3

hyperkeratinization of the palms and soles and marked hyperkeratinization of labial and lingual gingiva; festooned color of gingiva, free gingiva is unaffected

Answer 3

focal palmoplantar and gingival hyperkeratosis

Question 4

a component of several inherited syndromes; gingival hypertrophy then within a few years teeth are covered; composed of a very firm tissue with a granular corrugated surface

Answer 4

gingival fibromatosis

Question 5

what syndromes are with gingival fibromatosis

Answer 5

laband, gingival fibromatosis with hypertrichosis, epilepsy and mental retardation, gingival fibromatosis with multiple hyaline fibromas

Question 6

characterized by gingival fibromatosis, dyplastic or absent nails, malformed nose and ears, hepatosplenomegaly and hypoplasia of terminal phalanges of fingers and toes

Answer 6

laband syndrome

Question 7

penetrance in males; bilateral facial swelling that first appears when patinet is 1.5-4 years; jaw radiograph reveal soap bubble; multinucleated giant cells; pseudoanadontia

Answer 7

cherubism

Question 8

another name for ellis van creveld syndrome

Answer 8

chondroectodermal dysplasia

Question 9

dwarfs, hands show polydatyly(exra digits) on ulnar side and fingernails and toes are hypoplastic and deformed; fusion of anterior portion of maxillary gingiva to lip from canine to canine; anterior maxillary vestibular sulcus is lacking; v shaped notch in upper lip, thick frenula; teeth dead center

Answer 9

ellis van creveld syndrome

Question 10

fontaneles remain open- mushroom shape
aplasia or hypoplasia of clavicles
premaxilla underdeveloped(pseudoprognathism)
supernumery teeth
lack of cementum
mult cyst can develop bc of impacted teeth

Answer 10

cleidocranial dysplasia

Question 11

another name for gardener syndrome

Answer 11

familial colorectal polyposis

Question 12

ostomas and odontomas

intestinal polyps can turn malignant

Answer 12

gardener syndrome

Question 13

downward sloping of palpebral fissures
hypoplastic nose
hypoplastic malar bones with hypoplasia/absence of zygomatic process
abnormal misplaced ears
receding chin

Answer 13

mandibulofacial dysostosis

Question 14

fishlike mouth
deaf due to lack of otic ossicles
hypoplastic mandible
teeth malposed
anterior open bite
palate is high with cleft in about 30% of patients

Answer 14

mandibulofacial dysostosis

Question 15

hypertelorism
prognathism
broad nasal root
nevi-basal cell carcinoma on skin
over eyelids, nose, cheeks, neck, arms ,trunk

Answer 15

nevoid basal cell carcinoma syndrome

Question 16

odontogenic keratocysts

bifurcated ribs

Answer 16

nevoid basal cell carcinoma syndrome

Question 17

mutations that affect collagen, bones that fracture easy
blue sclera
resemble dentinogenesis imperfecta; opalescent or translucent teeth; enamel breaks off from defective dentin

Answer 17

osteogenesis imperfecta

Question 18

primary teeth are affected how much of the time with osteogenesis imperfecta; and how much does it affect permanent teeth

Answer 18

80% primary
30% permanent
in only 35% of these patients

Question 19

is tori genetic

Answer 19

yes

Question 20

are cleft lip / palate and lip pits inherited?

Answer 20

yes can be

Question 21

multiple capillary dilations
common on tip and anterior dorsum of tongue
similar lesions in nasal cavity may cause nose bleeds

Answer 21

telangiectasia

Question 22

what is composed of multiple endocrine neoplasia type 2B MEN2B

Answer 22

multiple mucosal neuromas
medullary carcinoma of thyroid gland
phechromocytoma

Question 23

in MEN2B, how many cases of medullary carcinoma have been diagnosed

Answer 23

in more than 75% of patients with this syndrome

Question 24

benign neoplasm that generally develops in ganglia around the adrenal glands

Answer 24

pheochromocytoma

Question 25

multiple neurofibromas as papules,(malignant transformation) cafe au lait pigmentation on axilla single or mult tumors at any location in oral mucosa, often on lateral border of tongue

Answer 25

neurofibromatosis of von recklinghausen

Question 26

what is crowes sign

Answer 26

indicates von recklinghausen: six or more cafe au lait and axillary freckling indicate the disease

Question 27

melanotic macular pigmentations of skin and mucosa around eyes, nose, mouth, gastrointestinal polyposis

Answer 27

peutz-jeghers syndrome

Question 28

white, bilateral corrugated, soft, folding buccal oral mucosa, thick layer of keratin

Answer 28

white sponge nevus(familial white folded mucosal dysplasia)

Question 29

snow capped amelogenesis imperfecta is a variety of type what

Answer 29

3

Question 30

``` hereditary opalescent brown to blue short and thin roots with periapical radiolucencies bulbous crowns(bell shaped) ```

Answer 30

dentinogenesis imperfecta

Question 31

what is type 1 dentin dysplasia

Answer 31

radicular; abnormal roots; teeth exfoliated early due to short roots

Question 32

type 1 dentin dysplasia radicular type is what disturbance

Answer 32

disturbance in hertwigs root sheath; pulp chambers absent

Question 33

what is type 2 dentin dysplasia

Answer 33

coronal; amber color translucent primary teeth; lack of coronal pulp chambers; thistle shaped pulp chambers

Question 34

hypodontia(partial anodontia)- small conical crowns hypotrichosis(decreased hair) hypohidrosis(decreased sweating) frontal bossing, depressed nasal bridge protuberant lips complete lack of scalp hair, hyperthermia

Answer 34

hypohidrotic ectodermal dysplasia

Question 35

decrease in serum alkaline phosphatase; affects bone and cementum; exfoliated prematurely with no evidence of perio

Answer 35

hypophosphatasia

Question 36

low serum levels of phosphorus; large pulp chambers with very large pulp horns

Answer 36

hypophosphatemic vitamin D- resistant rickets

Question 37

is pegged or missing laterals genetic

Answer 37

yes

Question 38

is taurodontism genetic

Answer 38

yes

Question 39

bull tooth; pyramid shaped molars with large pulp chambers, furcation of tooth is displaced apically; long crown length, downs or klinefelter, common in eskimos and middle easterners

Answer 39

taurodontism