Genetics Flashcards
Autosomal Dominant Inheritance
1 gene copy needed to affect.
1 affected parent = 50% chance of inheritance
Autosomal Recessive Inheritance
requires 2 gene copies.
1 unaffected parent carrier + 1 affected parent carrier = 25% affected, 25% unaffected, 50% carrier
Cyclic Nuetropenia
AD. cyclic decrease of neutrophils PMNs.
severe ulcerative gingivitis, gingivostomatitis, mouth ulcerations, leads to perio disease
Papillon-Lefevre Syndrome
AR. hyperkeratosis of hands/feet. primary and permanent dentition are lost prematurely due to gingivoperiodontal inflammatory process causing resorption, mobility, bleeding, edema…
Gingival Fibromatosis
component of several inherited syndromes.
firm, granular, corrugated tissue - needs frequent recalls - pseudopockets
Etiology of clefts
multifactorial
Peutz-Jegher’s Syndrome
AD. melanotic macules (brown spots)
usually accompanied by benign intestinal polyps
White Sponge Nevus
AD. white, spongy, folded, irregular buccal mucosa
asymptomatic, no tx
Hypocalcified - Amelogenesis Imperfecta
normal quantity but soft, moth eaten, fractures easily
Hypoplastic - Amelogenesis Imperfecta
pitted enamel, reduced thickness
Snow-capped - Amelogenesis Imperfecta
hypomaturation of enamel at incisal 3rd
Dentinogenesis Imperfecta
on radiograph: short blunt/bell shaped roots, obliterated pulp chamber
Osteogenesis Imperfecta
AD/R. bone fractures, small, curved bones. blue sclera eyes, hearing loss
Hypophosphatasia
AR. decrease in alkaline phosphatase impairing calcification of bone/cementum.
teeth do not have cementum!
Hereditary Ectodermal Dysplasia
male>female
complete/partial anadontia, small conical crowns
diminished sweat glands, depressed nose, impaired mental development
Cleidocranial Dysplasia
AD. teeth, bones, clavicles affected.
multiple supernumerary/impacted teeth “pseudoanadontia”
Cherubism
AD. upward gazing eyes, full cheeks.
v shaped dentition on radiograph.
Neurofibromatosis (von-Recklinghausen’s)
AD. bumps all over face/body - benign tumors on tongue/gingiva (rare)
cafe au lait spots on skin/eye.
Treacher-Collins Syndrome (Mandibulofacial Dysostosis
AD. rare. high, narrow palate.
droopy eyes, receding chin, “fish-like” mouth
Gardner’s Syndrome
AD. benign osteomas in frontal bones/jaws. can obliterate sinuses.
intestinal polyps most severe complication, can become malignant.
Nevoid Basal Cell Carcinoma
AD. increased distance between eyes. prognathic. OKC’s = odontogenic keratocysts < recurring, aggressive
