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88 Cards in this Set
- Front
- Back
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Developmental:
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Developmental: disturbance in
development resulting in an abnormality |
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Hereditary:
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Hereditary: genetic abnormality
that can be passed to offspring |
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Congenital:
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Congenital: any abnormality
present at birth or shortly after birth |
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Teratogen:
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Teratogen: agent that causes
developmental abnormality |
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Embryo:
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Embryo: product of conception
before 8 weeks, after that is a fetus. |
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Agenesis:
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Agenesis: complete or partial lack
of formation of an organ |
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Dysraphic abnormality:
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Dysraphic abnormality: failure of
structures to fuse |
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Division failure:
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Division failure: failure of
division or cleaving |
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Atresia:
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Atresia: failure to form a lumen
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Ectopia:
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Ectopia: development away from
normal site (choristoma) |
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Dystopia:
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Dystopia: failure to migrate to
final position |
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RNA
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RNA:
-In nucleus and cytoplasm - Single strand - Base and sugar substitution |
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RNA:
Types: |
RNA:
Types: Messenger – template of DNA Transfer – gets amino acids from cytoplasm Ribosomal – links aa’s Heterogeneous – precursor of mRNA |
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DNA
Nucleotide: |
DNA
Nucleotide: Phosphate + Nitrogen Bases + Deoxiribose |
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Codon:
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Codon:
3 base pairs --> code for specific amino acid |
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Gene:
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Gene:
Series of codons (amino acids) to code for a protein |
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Chromosome:
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Chromosome:
Many genes forming two arms joint by centromere |
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Somatic Cell:
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Somatic Cell:
22 autosomal chromosomal pairs and 1 sex chromosome pair |
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Mitosis:
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Mitosis:
-All somatic cells undergo mitosis - Yields two identical cells |
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Meiosis:
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Meiosis:
- Oogonia and spermatogonia divide to become gametes - Go from diploid to haploid |
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Lyon hypothesis:
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Lyon hypothesis:
Idea proposed by Mary Lyon that mammalian females inactivate one or the other X-chromosome during early embryogenesis. This deactivated chromosome forms the Barr body. |
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Gene
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Gene = section of genetic material that codes for a protein
Each gene has a locus in chromatid The corresponding genes in both chromatids are called alleles |
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Abnormal number of chromosomes
Euploid |
Abnormal number of chromosomes
Euploid = normal number for cell |
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Abnormal number of chromosomes
Diploid |
Abnormal number of chromosomes
Diploid = entire extra set of chromosomes |
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Abnormal number of chromosomes
Triploid |
Abnormal number of chromosomes
Triploid = two entire extra sets of chromosomes |
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Abnormal number of chromosomes
Aneuploid |
Abnormal number of chromosomes
Aneuploid = more or less of a few chromosomes, but not entire set |
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Abnormal number of chromosomes
Non-disjunction |
Non-disjunction = failure of pair of chromosomes to separate during division.
Trisomy = 3 of any chromosome Monosomy = only one of a pair of chromosomes |
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Abnormal structure of chromosomes
Deletion |
Abnormal structure of chromosomes
Deletion = loss of a portion of a chromosome |
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Abnormal structure of chromosomes
Translocation |
Abnormal structure of chromosomes
Translocation = parts of two different paired chromosomes are exchanged |
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Abnormal structure of chromosomes
Inversion |
Abnormal structure of chromosomes
Inversion = part of a chromosome is turned around |
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Autosomal dominant
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Autosomal dominant
Inheritance of a single copy of a defective gene found on a non-sex chromosome (remember, we each have two copies of each gene, one from each parent). The single defective copy is sufficient to over-ride the normal functioning copy, resulting in abnormal protein functioning or expression. |
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Penetrance
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Penetrance – number of offspring
affected with characteristc phenotype |
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Expressivity
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Expressivity – degree of manifestations of
condition in the phenotype |
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Autosomal recessive
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Autosomal recessive
- A condition that requires both copies of the gene to be defective. - If just a single copy is inherited, the single functional copy is sufficient to over-ride the defective copy and the individual is not affected by the disorder, but is rather a carrier of the condition |
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X-linked inheritance (Males)
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X-linked inheritance (Males)
-Disorder in which the defective gene lies on the X (sex) chromosome. -X-linked disorders are most common in males as there is no second X chromosome carrying the normal copy to compensate. In males therefore a recessive gene can cause a genetic disorder |
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X-linked inheritance (Females)
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X-linked inheritance (Females)
- Females are less likely to be affected as they have the non-affected X chromosome as well. - However, as only one X chromosome is active in each female cell at a time (one is switched off due to a process called Lyonisation), patches of affected tissue or organs can occur in females. -Mosaic concept. |
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Klinefelter’s Syndrome
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Klinefelter’s Syndrome
- tall - long arms and legs - infertile - high - pitched voice |
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Klinefelter’s Syndrome
p.124 |
Klinefelter’s Syndrome
- non-disjunction in egg cell - mothers age - 1 or more X chromosomes - male genotype - lack of 2ndary sexual charac. --> - deficit of testosterone - Congenital heart disease --> mitral vavle prolapse |
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Klinefelter’s Syndrome
General: |
Klinefelter’s Syndrome
General: - 1:1000 - Males with one or more extra X chromosomes (47 XXY) - Development of female secondary sexual characteristics - Usually diagnosed in postpubertal males |
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Klinefelter’s Syndrome
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Klinefelter’s Syndrome
– Gynecomastia – Hypogonadism – Female fat distribution – Infertility (98%) – Retarded bone age – Diabetes Mellitus 8% – Limited elbow movement – Finger abnormalities |
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Klinefelter’s Syndrome
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Head and Neck:
- Up slanting palpebral fissures - Epicanthic folds - Strabismus 57% - Broad flat nose - Malformed ears - sometimes Mental retardation |
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Klinefelter’s Syndrome
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Maxillofacial:
- Prognatism 47% - Cleft palate (rare) - Taurodontism - Extra Barr body (s) |
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Klinefelter’s Syndrome
Diagnosis |
Diagnosis
- Chromosomal studies mandatory - Cytology for Barr body |
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Prognosis
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Prognosis
-Increased incidence of breast CA (66X) |
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Trisomy 21
Down’s syndrome (p.123) |
Trisomy 21
• Down’s syndrome • Most frequent trisomy • 95% non-disjunction --> failure of pair of chromosome 21 to separate during meiosis • > Maternal age • Slanted eyes • Fissured t. and macroglossia --> enlarged tongue • Abnormal teeth and hypodontia --> too few teeth • Crowding and malposition • Premature loss of teeth • Cardiovascular abnormalities |
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Trisomy 21
Down’s syndrome |
- growth failure
- mental retardation -flat back of head - abnormal ears - palm crease - uni- or bilateral absence of ribs - intestinal blockage - umbilical hernia - abnormal pelvis - diminished muscle tone - big toes widely spaced - enlarged colon -congenital heart disease |
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Trisomy 21
Down’s syndrome |
- small arched palate
- big, wrinkled tongue - dental anomalies - mid-face hypoplasia - clefts (very high risk) - malocclusion - very high risk of periodontal disease - mandibular protrusion (prognathism) |
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Trisomy 21
Down’s syndrome |
- compromised immune system
- hearing and vision defects - organ/system defects |
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Turner Syndrome
p.125 |
Turner Syndrome
- non-disjunctional - female genotype - only females affected - only monosomy compatible with life - 22 pair of autosomal chromosome with one singe X chrom. - absence of estrogen |
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Turner Syndrome
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Turner Syndrome
-very short - webbed neck - missing 2dary sex characteristics |
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Turner Syndrome
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Turner Syndrome
- average intelligence - may have learning disabilities |
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Turner Syndrome
AT RISK: |
Turner Syndrome
AT RISK: - Osteoporosis and endocrine disorders - heart and vascular defects --> antibiotic prophylactic -hypertention - endocrine disorders ->type II diabetes and hyperthyroidism |
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Turner Syndrome
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Turner Syndrome
- Female phenotype with lack of one X chromosome 45X (50%) - 98-99% spontaneously aborted - 20% of all spontaneous abortions |
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Turner Syndrome
padilla |
Head and Neck:
- Prominent ears - Strabismus 20% - Low hair line - High arched palate 35% -Premature teeth eruption -Mid-face hypoplasia and - Micrognatia - limb defects |
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Mandibulofacial Dysostosis
Teacher Collins Syndrome (p.132) |
Mandibulofacial Dysostosis
Teacher Collins Syndrome - mutation on chromosome 5 - autosomsal dominant disorder - spontaneous mutation, not inherited from parent - affects craniofacial structures - gross deformities - no other organs and tissue involved - intelligence is normal - some hearing loss |
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Mandibulofacial Dysostosis
Teacher Collins Syndrome Padilla |
Mandibulofacial Dysostosis
Teacher Collins Syndrome -Affects 1st and 2nd branchial arches derivates - 1 of 10,000 -60% are new mutations, 40% AD 5q32-33.1 -Greater expressivity in subsequent generations -Associated with increased paternal age |
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Mandibulofacial Dysostosis
Teacher Collins Syndrome Padilla |
Mandibulofacial Dysostosis
Teacher Collins Syndrome Clinical features: - Characteristic facies (head normal / face small) - Hypoplastic zygomas, mandible, maxilla - Narrow face with depressed cheeks - Coloboma of lower eyelid (75%) without medial eyelashes --> eyes slant downward Ear abnormalities - Deformed or displaced pinnae -Extra ear tags -Hearing loss - Ossicle defects or absence of external canal |
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Mandibulofacial Dysostosis
Teacher Collins Syndrome Padilla |
Mandibulofacial Dysostosis
Teacher Collins Syndrome ORAL FINDINGS: - Mandibular hypoplasia - Condyle - Coronoid process - “Down-turned” mouth - Lateral facial clefting (15%) - Cleft palate (30%) - Parotid gland hypoplasia / absence - Hypoplasia of pharynx, larynx and trachea - Severe malocclusion - open bite - wide interproximal separation - displaced teeth |
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Mandibulofacial Dysostosis
Padilla |
Mandibulofacial Dysostosis
Treatment: -Cosmetic or functional surgery and orthodontics Prognosis: - Potential respiratory distress due to hypoplasia of airways - Good |
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Cherubism
132, 264 |
Cherubism
- AD with marked pen. 4p16 - 1-4 yrs bilat facial swelling - Mandible or maxilla - Displacement of the eyelids - Ocular hypertelorism - X-rays multilocular - Condyle is spared - Histology: fibrous and giant cells - Pseudo-anodontia --> malformed, out of space or missing - Growth stops at puberty --> no permanent disabilities other than malocclusion - X-rays become normal - Esthetic treatment |
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Cherubism
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Cherubism
- rare, painless form of fibrous dysplasia - affects bones of face: mandible, less often maxilla - replacement of spongy bone with fibrous tissue --> cheeks look very swollen |
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Cherubism
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Cherubism
- delayed eruption of permanent teeth - early exfoliation of primary teeth - no skeletal deformaties - malocclusion |
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Cherubism
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Cherubism
RADIOGRAPHIC APPEARANCE: - multiple, well-defind, multiocular, radiolucent lesions scattered within affected bones - cortical bone is thin |
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Cleidocranial dysplasia
131 Padilla |
Cleidocranial dysplasia
-AD and spontaneous mutations 6p21 -Open fontanelles with cranial enlargement Hypoplasias: -Clavicles --> can bring them together -Paranasal sinuses -Multiple supernumerary teeth -May lack cellular cementum |
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Cleidocranial dysplasia
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Cleidocranial dysplasia
- Chromosome 6 - spontanoues mutation - important in oestoblast formation - autosomal dominant disorder - bone malformation and agenesis -Multiple supernumerary teeth - delayed eruptipn - pseudoanodontia |
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Cleidocranial dysplasia
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Cleidocranial dysplasia
- primary dentition develops normally - delay in exfoliation -delay in eruption of permanent dentition |
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Pseudoanodontia
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Pseudoanodontia
- extended periods of time during which they have few if any erupted teeth |
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Gardner Syndrome
Familial colorectal polyposis p.448 |
Gardner Syndrome
-AKA: Familial colorectal polyposis -AD 5q21-22 (APC gene) |
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Gardner Syndrome
Familial colorectal polyposis 448 |
Gardner Syndrome
Familial colorectal polyposis General features -Adenomatous polyps of the colon and rectum - Osteomas - Odontomas - Hypercementosis - Cutaneous epidermoid cysts and fibromas |
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Gardner Syndrome
Familial colorectal polyposis |
Gardner Syndrome
Familial colorectal polyposis - multiple supernatural teeth - multiple osteomas -->Benign cysts / tumors - no bone abnormalities |
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Gardner Syndrome
Familial colorectal polyposis |
Gardner Syndrome
Familial colorectal polyposis - autosomal dominant disorder - POLYOSIS: --> development of multiple hard and soft tissue tumors - benign tumors --> if untreated the polyps develop into malignant invasive adenocarcinoma in GI tract and stomach - heridetary |
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Gardner Syndrome
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Gardner Syndrome
Oral and Maxillofacial manifestations -Multiple osteomas -Jaws (angle), frontal bone and paranasal sinuses -Cause deformity -Very early manifestation of syndrome - Multiple odontomas - Multiple supernumerary and impacted teeth |
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Gardner Syndrome
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Gardner Syndrome
Treatment -Prophylactic colectomy -Removal of osteomas -Prognosis -Bowel polyps develop adenocarcinoma (100%) -By age 30, 50% of patients develop adenocarcinoma |
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Nevoid Basal Cell Carcinoma
Syndrome Gorlin syndrome |
Nevoid Basal Cell Carcinoma
Syndrome Gorlin syndrome -AD, high penetrance, variable expressivity - Patched gene -Sonic hedgehog phenomenon |
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Nevoid Basal Cell Carcinoma
Syndrome Gorlin syndrome |
Nevoid Basal Cell Carcinoma
Syndrome Gorlin syndrome General features -Frontal, parietal and temporal bossing and prognatism -Hypertelorism (40%) -Skin tumors (mid-face) - Palmar / plantar pits - Skeletal abnormalities (rib, spine) -Calcification of the Falx cerebri -Ovarian fibromas and medullobflastomas |
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Nevoid Basal Cell Carcinoma
Syndrome Gorlin syndrome |
Nevoid Basal Cell Carcinoma
Syndrome Gorlin syndrome Oral and maxillofacial findings - Multiple OKC’s (75%) --> Odontogenic Keratocyst -Younger population (1-2 decades) |
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Nevoid Basal Cell Carcinoma
Syndrome Gorlin syndrome |
Nevoid Basal Cell Carcinoma
Syndrome Gorlin syndrome Treatment - Manage skin tumors and OKC’s Prognosis - Good |
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Nevoid Basal Cell Carcinoma
Syndrome Gorlin syndrome |
Nevoid Basal Cell Carcinoma
Syndrome Gorlin syndrome X RAYS Medulloblastoma Tentorium Scoliosis Basal Cell Carcinomas |
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Neurofibromatosis
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Neurofibromatosis
-Von Recklinghausen -Neural crest origin -AD -Long arm of chr 17, region 11.2 (17q11.2) |
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Neurofibromatosis
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Neurofibromatosis
Skeletal abnormalities -Café au lait spots -10% children -Axilla - Sometimes mental retardation -Multiple neurofibromas |
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Neurofibromatosis
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Neurofibromatosis
Oral: 10% Neurofibromas in lips and eyelid Lateral tongue NF’s Intra-mandibular NF’s 3-15% malignant transformation |
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Cyclic neutropenia
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Cyclic neutropenia
AD, -3-4 week cycles of neutropenia that last for 2-4 days each Systemic: -Fever, malaise, oportunistic infections Oral: - Ulcerative gingivostomatitis and severe periodontitis TX: prevention of infections and G-CSF |
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Papillon-Lefevre syndrome
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Papillon-Lefevre syndrome
-AR; 11q14-21 - Periodontoclasia and palmoplantar keratosis -Most teeth are lost by adulthood ?? Probably infectious etiology in a patient with decreases PMN -Chemotaxis |
