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Genetics - Cont.
Genetic Diseases with oral implications
| Question | Answer |
|---|---|
| Autosomal - Dominant | Only one copy of a gene is required for a person to be affected by disorder. |
| Autosomal - Recessive | Require two copies of the disease allele. Usually have unaffected parent = Carrier |
| X-linked | Males usually affected because they have a single copy of the x chromosome that carries the mutation. All daughters will carry one copy of the mutated allele. |
| Genetic Heterogeneity | Presence of a variety of genetic defects which cause the same disease. Finding is common to many human diseases. |
| Cyclic Neutropenia | Mutation of a gene(s) that regulate growth and development of neutorphils. Oral Manifestation: ulcers(also on alveolar tissues), perio. disease, |
| Causes impaired neutorphil chemotaxis and characterized by early age of oral tissue destruction and tooth loss, red scaly keratosis of palms and soles? | Papillon-Lefevre Syndrome |
| Syndrome characterized by benign, slowly progressive, non-hemorrhagie, fiberous enlargement of keritinized gingiva. | Gingival Fibromatosis |
| Cherubism | "Soap bubble " appearance radiographically. Characterized by abnormal bone tissue in the face(round face). Interferes with tooth development and eruption. After age 30 bone will appear normal |
| This syndrome often presents with heart defects, hands that show polydactyl, Oral manifestations: Edentulous mandibular incisor region, absence of mucobuccal fold etc. | Chondroectodermal Dysplasia or Ellis-Van Creveld Syndrome |
| Cleidocranial Dysplasia | Characterized by lack of or no clavicles,. Oral manifestations: High palate, unerupted or supernumary teeth, abnormal crown and root shapes |
| This syndrome presents with many basal cell carcinomas over a lifetime. Oral manifestations: Radiographically dev. of multiple odontogenic keratocysts in the jaws. | Gorlin's Synrome Nevoid Basal Cell carcinoma |
| Imperfect bone formation. Oral manifestations: teeth appear opalescent at eruption and darken w/age. Enamel is lost because of weak dentin | Osteogenisis Imperfecta |
| Torus | Variation of normal. Mandibular: unilateral or bilateral, multilocular, lobular or single |
| A variation of normal. Bony projections of the maxilla on buccal aspect of alveolar ridge. Unilateral or bilateral | Maxillary exostosis |
| Most common developmental facial abnormality | Clefts |
| Cleft lip | unilateral or bilateral or on midline. |
| Cleft palate | Full palate or only partial |
| Cleft lip and palate | Cleft lip w/palate more prevalent in males Cleft palate only more prevalent in females Majority of cases are multifactoral |
| A genetic disease that causes multiple tumors on the mouth, eyes and endocrine glands. Mucosal neuromas are the earliest sign and cocur in most or all patients. Appearing as small glistening bumps on the lips, tongue, and buccal mucosa | Men 2B Multiple Mucosal Neuroma Syndrome |
| Nerurofiromatosis of Von Recklinghausen | Characterized by growth of tumors on nerves. Neurofibromas can be in tissues of organs in the body but can also be seen on face and eyelids. Cafe au lait pigmentation of skin. Oral manifestations: Intramandibular neurofibromas |
| Gardners Syndrome | Most sig. manifestation is colon polyps that develop in 100% of the cases before age of 35. Almost always become malignant. Oral Manifestations: supernumerary teeth, odontomas and impacted teeth. Osteomas can cause facial deformities. |
| This syndrome has a clinical characteristic of melanotic macular pigments of the skin and mucosa. Intestinal polyps that can easily become malignant is also a characteristic. | Peutz-Jeghers syndrome |
| Ameleogenesis Imperfecta | Abnormal enamel caused by 14 separate hereditary disorders. There are 4 types of amelogenesis that display different clinical features, Types I - IV. |
| Dentogenesis Imperfecta | Abnormal pulp. Type I is associated with osterogenisisi Imperfecta. Oral Manifestations - bulbous crowns with opalescent brown to blue coloration. Enamel chips away |
| Dentin Dysplasia | Diagnosis based on radiographic findings - abnormal roots and pulp chambers. Three types: Radicular, coronal and Hypohidrotic Ectodermal |
| Pegged lateral | Small, peg shaped crowns. Shorter roots. Unilateral or bilateral. Sometimes laterals are congenitally missing. |
Created by:
turner16
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