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58 Cards in this Set
- Front
- Back
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trisomy 21
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one extra chromosome #21
from birth, systemic slanted eyes, ginivoperiodontitis, fissured tongue, hypodontia tx: root planing, scaling |
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Trisomy 13
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one extra chromsome #13
from birth, systemic bilateral CL/P, polydactyly microphthalmia extra fingers in hand tx: none |
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Turner syndrome
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one X chromosome missing
from birth, systemic, WOMEN short stature, webbing of neck, edema of hands No Barr Bodies in buccal smear tx: none |
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Klinefelter syndrome
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one or more extra X chromosome
from birth, systemic MEN tall stature, gynecomastia, hypoplastic mandible one barr bodie in buccal smear |
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Cat cry syndrome
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Deletion 5p
from birth, systemic catlike cry, severe mental retardation |
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Cyclic neutropenia
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AD, gene ELA-2, 19p13.3
from birth oral mucosa & periodontium gingivitis, periodontitis, ulcers, hemorrhage, alveolar bone loss, pocket formation, diminished neutrophils in peripheral blood tx: root planing, scaling, antibiotics, G-CSF |
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Papillon-Lefevre Syndrome
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AR, 11q14-21
from birth gingiva,PDL, palms and soles affected teeth mobility, pockets, palmoplantar hyperkeratosis, alveolar bone loss, severe perio disease, profuse inflammatory infiltrate of soft dental tissues teeth lost <14 yrs, gingiva resumes normal appearance tx: srp, tooth fixation, retinoid for skin |
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Focal plamoplantar and gingival hyperkeratosis
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AD
from birth, gingiva keratosis of gingiva, palms and soles hyperorthokeratosis of affected areas tx:mainatance of OH |
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Laband syndrome
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AD
from birth, gingiva marked gingival hyperplasia, abnormal nails, short fingers and toes, hypoplasia of terminal phalanges of fingers and toes, profuse fibrosis and increased collagen of affected gingiva tx: OH and surgical remolding |
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Gingival fibromatosis hypertrichosis, epilepsy and mental retardation syndrome
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AD
from birth, gingiva, hair, CNS Gingival hyperplasia, abundent body hair, epilespy Profuse fibrosis and increased collagen affect gingiva Tx: maintance of OH and surgical remolding |
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Gingival fibromatosis with multiple hyaline fibromas
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AD
from birth gingiva, nails, mucosa and skin affected gingival hyperplasia, hypertrophy of nails, multiple tumors, fibrosis of gingiva, hyaline fibromas Tx: maintance of OH, removal of fibromas |
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Cherubism
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AD, 4p16
from birth, > men mandible bilaterally enlargement of face multiple bilateral radiolucencies of mandibular ramus, NOT on condyle multinucleated fill in after puberty |
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Alleles
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genes that are located at the same level or locus in the 2 chromosomes of a parir and that determines the same functions or characteristics
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Amino acid
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Organic compound containing an amino group NH2
main component of proteins |
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Autosomes
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Nonsex chromosomes, which are identical for men and women
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Barr Body
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Condensed chromatin of the inactivated X chromosome found at the periphery of the nucleus of cells in women
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Carrier
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heterozygous individual who is clinically normal but who can transmit a recessive tract or characteristic
also homozygous for an autosomal dominant condition with low penetrance |
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Centromere
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constricted portion of the chromosome that divides the short arms from the long arms
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Chromatid
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either of the two vertical halves of the chromosome that are joined at the centromere
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Chromatin
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general term used to refer to the material DNA that forms the chromosomes
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Codon
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sequence of three bases in DNA that encodes an amino acid
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Consanguinity
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Blood relationship
mating or marriage between close relatives |
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Diploid
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having two sets of chromosomes
normal constitution of somatic cells |
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genetic heterogeneity
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having more than one inheritance pattern
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Haploid
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having a single set of chromosomes
gamete is hapoid |
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hypertelorism
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condition in which there is > than normal distance between 2 paired organs
ocular hypertelorism-greater distance between eyes |
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Hypohidrosis
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abnormally diminished secretion of sweat
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Hypoplastic
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underdeveloped
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hypotrichosis
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presence of less than the normal amount of hair
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Meiosis
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two-step cellular division of the original germ cells which reduces the chromosomes from 4n DNA to 1n DNA
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Metaphase
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Phace of cellular division in which the chromosomes are lined up evenly along the equatorial plane of the cell and in which they are most visible
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Mitosis
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Way in which somatic cells divide so that the two daughter cells receive the same number of identical chromosomes
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Multifactorial inheritance
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hereditary pattern seen when there is more than one genetic factor involved and sometimes when there are also environmental factors participating in the causation of a condition
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Penetrance
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frequency with which a heritable trait is exhibited by individuals carrying the gene or genes that determine that trait
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Ellis-van Creveld syndrome
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from birth, Dwarfs
fusion of upper lip to maxilla gingiva, teeth, alveolar ridge, hands absent upper vestibule, serrated lower alveolar ridge, polydactyly, thinning of enamel Tx: reconstruction of the upper vestibule, amputation of extra fingers |
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Cleidocranial dyplasia
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from birth
teeth, clavicles, skull *Supernumerary teeth, absent clavicles, open fontanelles, multiple impacted teeth, absent cellular cementum, short rooted teeth, den in dente, cysts Tx: extractions, orthodontia |
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Gardner syndrome
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AD, 5q21-22
from birth, autosomal dominant maxilla and mandible *multiple osteomas, supernumerary teeth, colon polyps > adenocarcinoma, odontomas and osteomas in jaws, colorectal cancer Without intervention, 50% develop adenocarcinoma before age 30. Tx: surgery |
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Mandibulofacial dysostosis
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AD, 5q21-22
from birth mandible, teeth, ears hypoplastic mandible, malposed teeth, deafness, obtuse mandibular angle, small condyle Tx: plastic surgery, ortho, maintance OH |
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Nevoid basal cell carinoma
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AD, 9q22.3, Gorlin Syndrome
from birth mandible, maxilla, skin, ocular hypertelorism multiple odontogenic keratocysts and basal cell carcinoma- nevi, radiolucencies of the jaws, bifid rib Tx: surgical removal |
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Osteogenesis imperfecta
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AD, multiple genes involved
from birth, Autosomal dominant skeleton, teeth, collagen Blue sclera, multiple spontaneous bone fractures, multiple skeletal deformities, dentinogensis imperfecta-like teeth, *small teeth, > primary |
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Heteditary hemorrhagic telangiectasia
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Autosomal dominant
starts after teens mucous membranes and skin, spider wed appearance of facial skin telangiectases, gingival bleeding, capillary dilations Tx: care during scaling |
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multiple mucosal neuroma sydrome
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AD, 10q11.2
from birth oral mucosa, esp tongue multiple nodes on tongue, lips and cheek mucosa, neuromas, thyroid carcinoma, pheochromocytoma Tx: preventive thyroidectomy and excision of oral neurofibromas |
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Neurofibromatosis of Von Recklinghausen
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AD, 17q11.2
from birth skin oral mucosa, esp tongue Multiple neurofibromas, multiple nodes on tongue and other mucosa,, radiolucencies in mandible, Café au lait pigmentation spots 90%, Tx: surgical removal of neurofibromas |
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Peutz-Jeghers syndrome
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AD-19p13.3
from birth skin, oral mucoas, small intestine pigmented macules in perioral skin and oral mucosa, intestinal polyps, melanin in basal layer of epi tx: removal of intestinal polyps if needed |
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White sponge nevus
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AD, mutation in mucosal keratin K4 or K13
from birth or develops at puberty *Buccal mucosa bilateral whitening of buccal mucosa, thick layer of orthokeratin and clear cells Tx: maintenance of oral hygiene |
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Types of amelogensis imperfecta
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Type I: Hypoplastic, thin enamel, pitted in rows
Type II: Hypocalcified, normal thickness, less radiopaque, yellow-orange color, rapidly lost in incisal aspect, severe attrition-> anterior open bite with exposed dentin on occlusal surfaces Type III: Hypomaturation, normal thickness but mottled, large amounts of matrix, soft enamel, defect of enamel rod sheath, radiodensity=dentin Type III-Snowcapped amelogenesis imperfecta-hypomaturation of the surface enamel of occlusal third of all teeth, regular hardness, doesn’t chip Type IV: Hypoplastic-hypomaturation, Thin brown enamel, pitted, associated with taurodontic teeth-large pulp chambers, radiodensity=dentin Overall prevalence in society 1: 15,000 |
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Amelogenesis imperfecta: pitted hypoplastic
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AD
visible when teath erupt > all primary, sometimes permanent teeth random pinpoint pits on labial and lingual surfaces, thinner enamel Tx: aesthic dentristy,operative procedures |
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amelogenesis imperfecta: hypocalcified type
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AD and AR
when teeth erupt all primary and permanent teeth cheesy soft enamel, rapidly lost, anterior open bite, "moth eaten", Tx: jacket crowns, metal crowns, aesthetic |
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Amelogenesis imperfecta:hypomaturation type
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AD, AR and X-linked recessive
when teeth erupt, X-linked more often in men all primary and permanent teeth enamel softer than normal chips easily, large amounts of enamel matrix Tx:aesthetic dentistry |
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Amelogenesis imperfecta: snow-capped (hypomaturation)
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AD and X-linked recessive
when teeth erupt all primary and permanent teeth white discoloration of surface enamel of occlusal one third of all teeth |
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Dentinogenesis imperfecta
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AD, 4q13-21
when teeth erupt, > all primary and permanent teeth bulbous crowns, *opalescent brown-bluish crowns short pointed roots, absent pulp chambers Tx: aesthis dentistry |
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Radicular dentin dysplasia
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AD
when teeth erupt, all primary and permanent teeth normal crowns in size and color, short pinpointed roots, absent pulp chambers, Tx:prosthesis if teeth are lost |
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Coronal dentin dyplasia
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AD, 4q13-21
when teeth erupt, all primary teeth primary teeth amber in color (absent pulp chambers), permanent teeth normal in color(bow tie pulp) "thistle-shaped" pulp in uniradicular teeth Tx: regular |
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hypohidrotic ectodermal dyplasia
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X-linked recessive, Xq12-13.1, AR, 2q11-13
from birth, X-linked, all males AR skin, sweat glands, hair, both dentitions few teeth formed, hypotrichosis, hypohydrosis, frontal bossing, depressed nasal bridge, protuberant lips Tx: implants |
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Hypophosphatasia
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Ar, 1p36.1-34
from birth, bones and teeth permature loss of primary anterior teeth large pulp chambers, absence of cementum Tx: space retainers or dental prosthesis |
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Hypophosphatemic vitamin D-resistant rickets
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X-linked dominant
from birth, more often MEN bones and teeth multiple periapical radiolucencies, large pulp chambers, pulp horns Tx: endodontics and regular dental hygiene care |
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Tori and Exostoses
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Autosomal dominant inheritance patterns
Present post puberty, > women & natives Assymptomatic Mandibular-uni or bilateral, uni or multilobular, premolar area on lingual (torus mandibularis) Maxillary-midline, multilobular (torus palatinus) Exostosis-tori on buccal aspect of maxillary alveolar ridge, uni or bilateral, single or multiple, less frequent then tori, benign, usually molar and premolar location |
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Inherited disorders of Oral Mucosa
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Cleft lip- 1/800 births
Development 6th-9th week utero Cleft lip >males left side Cleft palate >females Multifactorial |
