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oral pathology > Genetics > Flashcards

Genetics Flashcards

1
Q

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

A

cyclic neutropenia

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2
Q

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

A

papillon- lefevre Syndrome

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3
Q

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

A

focal palmoplantar and gingival hyperkeratosis

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4
Q

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

A

gingival fibromatosis

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5
Q

what syndromes are with gingival fibromatosis

A

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

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6
Q

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

A

laband syndrome

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7
Q

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

A

cherubism

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8
Q

another name for ellis van creveld syndrome

A

chondroectodermal dysplasia

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9
Q

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

A

ellis van creveld syndrome

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10
Q

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

A

cleidocranial dysplasia

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11
Q

another name for gardener syndrome

A

familial colorectal polyposis

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12
Q

ostomas and odontomas

intestinal polyps can turn malignant

A

gardener syndrome

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13
Q 
downward sloping of palpebral fissures
hypoplastic nose
hypoplastic malar bones with hypoplasia/absence of zygomatic process
abnormal misplaced ears
receding chin
A

mandibulofacial dysostosis

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14
Q 
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
A

mandibulofacial dysostosis

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15
Q 
hypertelorism
prognathism
broad nasal root
nevi-basal cell carcinoma on skin
over eyelids, nose, cheeks, neck, arms ,trunk
A

nevoid basal cell carcinoma syndrome

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16
Q

odontogenic keratocysts

bifurcated ribs

A

nevoid basal cell carcinoma syndrome

17
Q

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

A

osteogenesis imperfecta

18
Q

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

A

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

19
Q

is tori genetic

A

yes

20
Q

are cleft lip / palate and lip pits inherited?

A

yes can be

21
Q

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

A

telangiectasia

22
Q

what is composed of multiple endocrine neoplasia type 2B MEN2B

A

multiple mucosal neuromas
medullary carcinoma of thyroid gland
phechromocytoma

23
Q

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

A

in more than 75% of patients with this syndrome

24
Q

benign neoplasm that generally develops in ganglia around the adrenal glands

A

pheochromocytoma

25
Q

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

A

neurofibromatosis of von recklinghausen

26
Q

what is crowes sign

A

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

27
Q

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

A

peutz-jeghers syndrome

28
Q

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

A

white sponge nevus(familial white folded mucosal dysplasia)

29
Q

snow capped amelogenesis imperfecta is a variety of type what

A

3

30
Q 
hereditary opalescent brown to blue
short and thin roots with periapical radiolucencies
bulbous crowns(bell shaped)
A

dentinogenesis imperfecta

31
Q

what is type 1 dentin dysplasia

A

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

32
Q

type 1 dentin dysplasia radicular type is what disturbance

A

disturbance in hertwigs root sheath; pulp chambers absent

33
Q

what is type 2 dentin dysplasia

A

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

34
Q

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

A

hypohidrotic ectodermal dysplasia

35
Q

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

A

hypophosphatasia

36
Q

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

A

hypophosphatemic vitamin D- resistant rickets

37
Q

is pegged or missing laterals genetic

A

yes

38
Q

is taurodontism genetic

A

yes

39
Q

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

A

taurodontism

oral pathology (12 decks)

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