Oral Pathology Exam 5 Study Guide

Practice flashcards covering genetic disorders, syndromes, dental dysplasias, and clinical lab values for Oral Pathology Exam 5.

Trisomy 21

Down syndrome; associated with late maternal age, where $90\%$ of patients present with gingival and periodontal disease.

Trisomy 13

A condition due to nondisjunction where $70\%$ of infants die within $7$ months; characterized by rocker bottom feet.

Recessive (Double Dose)

An inheritance pattern where both parents must carry the gene, resulting in a $25\%$ chance of the offspring being affected.

Oligogenic

A trait or condition inherited through several genes.

Expressive

The degree to which a person is affected by a genetic condition.

Barr Body

A structure seen at the nuclear periphery in female cells, associated with the Lyon hypothesis.

Dentiogenesis I

A condition associated with osteogenesis imperfecta.

Dentiogenesis II (Hereditary opalescent dentin)

Characterized by bulbous crowns, brownish-blue color, $20\%$ enamel hypoplasia, short roots, and thin periapical radiolucencies.

Cleidocranial dysplasia

A condition characterized by a mushroom-shaped skull, small face, hypoplastic clavicles, supernumerary teeth, delayed eruption, and cyst-retained primary teeth.

Von Ricklinghausen disease

Neurofibromatosis; characterized by multiple neurofibromas on facial skin and eyelids, and cafe-au-lait spots (color of coffee with milk).

Lyon Hypothesis

The theory that one of the X-chromosomes of a female embryo is canceled/inactivated; relates to Barr bodies and X-linked recessive traits.

Ectodermal Dysplasia

Characterized by hypodontia, hypotrichosis (lack of body hair), lack of sweat and sebaceous glands, and small conical-shaped crowns.

MEN 2B

Characterized by medullary carcinoma of the thyroid occurring in the first few years of life, high malignancy, and functional adrenal gland tumors.

Mandibulofacial Dysostosis

Characterized by hypoplasia of malar/cheek bones and zygomatic process, abnormal ears with tags, deafness, and a fish-like mouth.

Snowcapped

A type III hypo-maturation amelogenesis imperfecta where the incisal/occlusal $1/3$ of teeth appear white.

Amelogenesis imperfecta Type I (Hypoplastic)

Enamel is not normal thickness due to the failure of ameloblasts to lay down the enamel matrix.

Amelogenesis imperfecta Type II (Hypocalcified)

Enamel is normal thickness but poorly calcified, appearing dark yellow-brown and chalky, and breaks down easily.

Amelogenesis imperfecta Type III (Hypo maturation)

Enamel has a mottled appearance and softer occlusal surface, appearing snow-capped with normal thickness.

Amelogenesis imperfecta Type IV (Hypoplastic-hypo maturation)

Associated with taurodontic teeth; enamel appears radiographically as dense as dentin.

White sponge nevus

A condition present at birth where the buccal mucosa is always affected by bilateral, white, corrugated, and folding oral mucosa; prognosis is good.

Peutz-Jegher’s

Characterized by multiple melanotic macular pigmentations of the skin and gastrointestinal polyposis.

Cri-Du-Chat syndrome

A condition characterized by a cat-like cry at birth, microcephaly, hypertelorism, and low set ears.

Leukemia

A condition involving an excessive number of white blood cells with clinical symptoms similar to mononucleosis, including gingival bleeding and NUG.

Sickle cell anemia

A condition where abnormal hemoglobin decreases $O_2$, causing cells to become sickle-shaped; symptoms include weakness and joint pain.

Paget’s disease

A condition where bones feel warm to the touch and show a cotton-wool radiographic appearance.

Addison’s disease

A condition described as Vitamin D deficiency in young children that may delay tooth eruption and cause brown pigment of skin mucosa.

Bell’s Palsy

Unilateral facial paralysis and uncontrollable salivation often treated with corticosteroids.

Cherubism

A condition characterized by a soap bubble appearance on radiographs, multinucleated giant cells, and pseudoandontia.

Prophase

The stage of mitosis where poles line up toward metaphase.

Metaphase

The stage of mitosis where chromosomes are symmetrical at both sides of the center of the cell.

Anaphase

The stage of mitosis where sister chromosomes separate and pull apart.

Telophase

The stage of mitosis where chromatids gather at opposite ends and undergo splitting.

Klinefelter syndrome

A result of nondisjunction of the ova (XXY) in males, characterized by $50\%$ breast development, taurodontic teeth, and wide hips.

Papillon-Lefevre syndrome

Characterized by periodontitis in both dentitions and hyperkeratosis of the soles of feet and palms of hands.

Chondroectodermal Dysplasia (Ellis-van Creveld syndrome)

Characterized by maxillary gingiva fused to the upper lip, V-shaped notch in the upper lip, and $80\%$ likelihood of natal teeth.

Hypophosphatemic vitamin D resistant rickets

Characterized by dentin cracks inducing pulp infections, bow legs, and short stature.

Hypotrichosis

A term meaning a decreased amount of hair.

Centromere

The constriction that joins the short and long arms of each chromosome.

Karyotype

A microphotograph showing a person’s chromosomes from a single cell.

Taurodontic teeth

Teeth that are pyramidal shaped.

Normal bleeding time

$1$ to $6$ minutes.

Normal prothrombin time

$11$ to $16$ seconds.