Genetics

Question 1

Autosomal Dominant Inheritance

Answer 1

1 gene copy needed to affect.

1 affected parent = 50% chance of inheritance

Question 2

Autosomal Recessive Inheritance

Answer 2

requires 2 gene copies.

1 unaffected parent carrier + 1 affected parent carrier = 25% affected, 25% unaffected, 50% carrier

Question 3

Cyclic Nuetropenia

Answer 3

AD. cyclic decrease of neutrophils PMNs.

severe ulcerative gingivitis, gingivostomatitis, mouth ulcerations, leads to perio disease

Question 4

Papillon-Lefevre Syndrome

Answer 4

AR. hyperkeratosis of hands/feet. primary and permanent dentition are lost prematurely due to gingivoperiodontal inflammatory process causing resorption, mobility, bleeding, edema…

Question 5

Gingival Fibromatosis

Answer 5

component of several inherited syndromes.

firm, granular, corrugated tissue - needs frequent recalls - pseudopockets

Question 6

Etiology of clefts

Answer 6

multifactorial

Question 7

Peutz-Jegher’s Syndrome

Answer 7

AD. melanotic macules (brown spots)

usually accompanied by benign intestinal polyps

Question 8

White Sponge Nevus

Answer 8

AD. white, spongy, folded, irregular buccal mucosa

asymptomatic, no tx

Question 9

Hypocalcified - Amelogenesis Imperfecta

Answer 9

normal quantity but soft, moth eaten, fractures easily

Question 10

Hypoplastic - Amelogenesis Imperfecta

Answer 10

pitted enamel, reduced thickness

Question 11

Snow-capped - Amelogenesis Imperfecta

Answer 11

hypomaturation of enamel at incisal 3rd

Question 12

Dentinogenesis Imperfecta

Answer 12

on radiograph: short blunt/bell shaped roots, obliterated pulp chamber

Question 13

Osteogenesis Imperfecta

Answer 13

AD/R. bone fractures, small, curved bones. blue sclera eyes, hearing loss

Question 14

Hypophosphatasia

Answer 14

AR. decrease in alkaline phosphatase impairing calcification of bone/cementum.
teeth do not have cementum!

Question 15

Hereditary Ectodermal Dysplasia

Answer 15

male>female
complete/partial anadontia, small conical crowns
diminished sweat glands, depressed nose, impaired mental development

Question 16

Cleidocranial Dysplasia

Answer 16

AD. teeth, bones, clavicles affected.

multiple supernumerary/impacted teeth “pseudoanadontia”

Question 17

Cherubism

Answer 17

AD. upward gazing eyes, full cheeks.

v shaped dentition on radiograph.

Question 18

Neurofibromatosis (von-Recklinghausen’s)

Answer 18

AD. bumps all over face/body - benign tumors on tongue/gingiva (rare)
cafe au lait spots on skin/eye.

Question 19

Treacher-Collins Syndrome (Mandibulofacial Dysostosis

Answer 19

AD. rare. high, narrow palate.

droopy eyes, receding chin, “fish-like” mouth

Question 20

Gardner’s Syndrome

Answer 20

AD. benign osteomas in frontal bones/jaws. can obliterate sinuses.
intestinal polyps most severe complication, can become malignant.

Question 21

Nevoid Basal Cell Carcinoma

Answer 21

AD. increased distance between eyes. prognathic. OKC’s = odontogenic keratocysts < recurring, aggressive