1.definitions
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This document defines several genetic terms: congenital means present at birth but not necessarily inherited; hereditary means apparent at birth but may not show for years; autosomal dominant inheritance affects every person with an affected parent and is transmitted to offspring; autosomal recessive only affects siblings and has a 1 in 4 chance in siblings; X-linked dominant exhibits higher in females due to twice as many X chromosomes and females transmit to half offspring; X-linked recessive is much higher in males than females.
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Genetic disorders can be caused by changes in genes or chromosomes. There are two major types - those caused by mutations in DNA sequences and those caused by changes in chromosome structure or number. Some examples of genetic disorders discussed include Down syndrome, Klinefelter syndrome, Turner syndrome, sickle cell anemia, cystic fibrosis, hemophilia, muscular dystrophy, Huntington's disease, ALS, diabetes, color blindness, albinism, achondroplasia, and hairy ears syndrome. Pedigrees and karyotypes are tools used to study genetics and inheritance patterns of traits and disorders.GENETICS PPT.pptx
GENETICS PPT.pptxDeepti Kukreti
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This document provides information on various genetics concepts including genes, chromosomes, inheritance patterns, and examples of genetic disorders. It discusses the basics of genetics including definitions of key terms like gene, chromosome, karyotype, genotype, phenotype, alleles, mutation, and inheritance patterns such as autosomal recessive, autosomal dominant, X-linked recessive, and examples for each. Specific genetic disorders discussed include cystic fibrosis, mucopolysaccharidoses, phenylketonuria, sickle cell disease, Tay-Sachs disease, and Duchenne muscular dystrophy.Genetic and chromosomal aberrations in children
Genetic and chromosomal aberrations in childrenNarsinhbhai Patel Dental College and Hospital
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The document provides an extensive overview of genetic and chromosomal disorders in children, outlining definitions, classifications, and specific conditions associated with genetic aberrations. It discusses inheritance patterns, types of chromosomal abnormalities, and details various genetic disorders like achondroplasia and Marfan's syndrome, with emphasis on clinical features and treatment options. The importance of recognizing these disorders by dental professionals is highlighted, as they play a key role in identifying unrecognized genetic issues in patients.2. cardenas introduction
2. cardenas introductionJohn Velo
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Multifactorial inheritance is caused by a combination of environmental factors and mutations in multiple genes. Common chronic diseases like high blood pressure are often multifactorial, with genetic and environmental components both playing a role. While some genes may increase susceptibility, no single gene determines these conditions. They can occur in people with or without affected family members, and concordance rates in twins do not follow Mendelian patterns.Human Genetics BMD 404.pptx
Human Genetics BMD 404.pptxJoycelynDamoah
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This document discusses human genetics and inheritance patterns. It covers Mendel's experiments on inheritance, dominant and recessive traits, and patterns of Mendelian inheritance in humans such as eye color and earwax type. It also discusses non-Mendelian inheritance including sex-linked traits passed on the X or Y chromosomes. Examples are given of pedigree diagrams and karyotypes used to study genetic disorders and their inheritance patterns.Ad
More from Nehal Vithlani (20)
18.gardner's syndrome
18.gardner's syndromeNehal Vithlani
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Gardner's syndrome is a hereditary condition caused by a gene on chromosome 5 that results in multiple intestinal polyps and bone growths. Patients commonly experience colonic polyps that have a high risk of becoming cancerous, as well as benign bone tumors (osteomas) in the jaw, face and skull that can cause facial deformities and restricted mouth opening. Diagnosis involves detecting unerupted teeth and jaw osteomas on radiological exams. Treatment requires preventative removal of the colon due to the high cancer risk and surgery to remove jaw osteomas for cosmetic purposes.17.ectodermal dysplasia
17.ectodermal dysplasiaNehal Vithlani
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Ectodermal dysplasia is a group of inherited diseases where two or more ectodermally derived structures are underdeveloped. It can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns. Clinical features include sparse, fine hair and eyebrows, a saddle nose appearance, heat intolerance, and absence of sweat glands. Oral manifestations include missing teeth (oligodontia or anodontia), a high palate, and possible cleft palate. Radiographs show absence of teeth and a thin, less vertical alveolar process. Dentures and dental implants can be used to manage the condition for functional and cosmetic purposes.15.arhinencephaly
15.arhinencephalyNehal Vithlani
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Arhinencephaly is a rare developmental abnormality where part of the brain called the olfactory portion is either absent or deficient, resulting in abnormalities of the skull and face. It can cause problems with smell, breathing, and feeding. Individuals with arhinencephaly may have a flat face, widely spaced eyes, and underdeveloped nasal cavities.14.chondroectodermal dysplasia
14.chondroectodermal dysplasiaNehal Vithlani
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Chondroectodermal dysplasia, also known as Ellis van Creveld syndrome, is a congenital disorder characterized by short limbs, polydactyly, ectodermal dysplasia and congenital heart defects. Key features include small, conical teeth that erupt early, sparse hair and absent nails, as well as bone deformities of the knees and chest wall abnormalities. Radiographs show short finger bones and distinctive tooth shapes. Treatment focuses on surgical correction of physical abnormalities like harelip.10.mandibulofacial dysostosis
10.mandibulofacial dysostosisNehal Vithlani
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Mandibulofacial dysostosis is a genetic condition caused by the failure of neural crest cells to migrate properly during facial development. It is characterized by underdeveloped bones and tissues of the midface and jaw. Common features include a small lower jaw, high arched palate, cleft palate, unusually large mouth, downward slanted eyes, and varying degrees of vision problems and tooth abnormalities. Treatment focuses on cosmetic surgery to improve facial structure and hearing.9.craniofacial dysostosis
9.craniofacial dysostosisNehal Vithlani
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Craniofacial dysostosis is a rare genetic disorder characterized by distinctive skull and facial bone malformations that are present at birth or become evident in infancy. Key features include premature fusion of skull bone sutures leading to an abnormally shaped head, facial abnormalities like bulging eyes, and dental issues like a high arched palate and crowding. Diagnosis involves examining characteristic facial features and skull x-rays showing thin bone walls and indentations. Treatment may include surgeries to correct facial structure and relieve pressure on the brain.8.cleidocranial dysplasia
8.cleidocranial dysplasiaNehal Vithlani
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Cleidocranial dysplasia is a genetic condition characterized by incomplete penetrance that primarily affects the skull, clavicles, and dentition. Key features include a brachycephalic skull with sunken sutures and depressed nasal bridge, absence or malformation of clavicles causing shoulders to meet in the midline, retained primary teeth and delayed permanent tooth eruption, and supernumerary teeth. Radiographs show open skull sutures, absence or malformation of clavicles, and dental anomalies. Diagnosis is based on the shoulder meeting in the midline and dental and skeletal features. Management focuses on dental care including extraction of supernumerary teeth while skull and clavicle anomalies require no7.hemi maxillofacial dysplasia
7.hemi maxillofacial dysplasiaNehal Vithlani
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Hemi-maxillofacial dysplasia is a condition characterized by painless unilateral enlargement of the maxillary bone and fibrous hyperplasia of the gingiva. It most commonly affects younger patients and may be associated with other conditions like Becker's nevus. Radiographs show thickened, vertically oriented trabeculae in the maxilla giving it a granular appearance, along with a smaller maxillary sinus on the affected side. The diagnosis is based on clinical features of unilateral maxillary enlargement and gingival hyperplasia along with radiographic findings. Treatment involves orthodontic therapy and potentially orthognathic surgery.5.facial hemihypertrophy
5.facial hemihypertrophyNehal Vithlani
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Facial hemihypertrophy is a condition where one side of the face and sometimes parts of the body are enlarged. It can be caused by endocrine dysfunction, genetic factors, vascular abnormalities, or neurogenic malformations. Clinically, it involves enlargement of structures on one side of the face like the eyelids, cheeks, lips, and bones. Radiographs show bone and tooth enlargement on the affected side. Diagnosis is made by noticing facial asymmetry clinically and seeing bone and tooth enlargement on imaging. Management focuses on cosmetic repair through procedures like soft tissue reduction, face lifts, and jaw surgery.3.micrognathia
3.micrognathiaNehal Vithlani
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Micrognathia is a condition where the jaw, most commonly the mandible, is severely deficient. There are two types - apparent micrognathia which is an illusion and true micrognathia where the jaw is actually small. True micrognathia can be congenital or acquired and is associated with other birth defects or injuries from forceps delivery or ankylosis. Clinical features include a retracted middle face, retruded chin, and steep mandibular angle with the jaw being too small to feed properly in infants. Management may involve orthognathic surgery.4.macrognathia
4.macrognathiaNehal Vithlani
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Macrognathia refers to an abnormally large jaw, which can be caused by conditions like pituitary gigantism, Paget's disease of bone, or acromegaly in adults. Clinical features of macrognathia include mandibular protrusion, an enlarged mandible, a gummy smile showing excessive gums, a prominent chin button, and a less steep angle between the ramus and body of the mandible. Treatment may involve osteotomy to decrease the length of the mandible followed by orthodontic treatment.2.agnathia
2.agnathiaNehal Vithlani
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Agnathia is a rare condition where one or both jaws are totally absent. It can cause the upper face to appear normal while the lower face skin continues into the neck area. The tongue may be rudimentary while ears can be deformed. Though difficult, surgical reconstruction should be carried out to reconstruct the jaws.6.facial hemiatrophy
6.facial hemiatrophyNehal Vithlani
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Facial hemiatrophy, also known as Parry Romberg syndrome, is characterized by slowly progressive wasting of the soft tissues on half of the face. Key features include a white line furrow on one side of the face near the midline, thinning of tissues under the skin including fat, cartilage, and bone, and a sharp line of demarcation between normal and affected skin resembling a scar. Radiographic imaging reveals reduction in the size of bones on the affected side of the face compared to the unaffected side. There is no known cause, and treatment involves surgical reconstruction and orthodontic management.41.resorption of teeth
41.resorption of teethNehal Vithlani
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Tooth resorption is the chronic damage or loss of tooth structure caused by odontoclast cells. It can occur physiologically or pathologically. External resorption occurs when odontoclasts are in the periodontal ligament, while internal resorption happens when they are located in the dentine pulp.40.abfraction
40.abfractionNehal Vithlani
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Abfraction is the loss of tooth structure caused by flexure from occlusal stresses on the teeth. It typically affects the buccal or labial cervical areas, presenting as wedge-shaped lesions with sharp line angles. Abfraction results from eccentric forces during occlusion that weaken the tooth's ability to withstand stresses, especially when combined with erosion or abrasion, leading to tissue loss over time.39.erosion
39.erosionNehal Vithlani
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Erosion is the chemical process of tooth substance loss without bacterial involvement. It occurs when tooth surfaces are exposed to acids from intrinsic sources like gastric reflux or vomiting, or extrinsic sources like acidic foods and beverages. Clinical features include smooth lesions on the front teeth surfaces that cause hypersensitivity. Radiographs may show radiolucent defects in the crown. Management involves diet control, fluoride use, changing brushing habits, and restorations or systemic treatment depending on the cause of erosion.38.abrasion
38.abrasionNehal Vithlani
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Abrasion is the pathological wearing away of tooth substance caused by external abrasive agents. It can be caused by abrasive dentifrices, horizontal tooth brushing with heavy pressure, occupational or ritual abrasion, or dental floss or toothpicks. Clinically, abrasion appears as V-shaped lesions on exposed tooth roots and causes sensitivity as dentin is exposed. Radiographically, abrasion shows as radiolucent defects at the cervical level of teeth with increasing density borders that are semi-lunar in shape. Management involves modifying teeth cleaning habits, removing the cause, and performing restorations.37.attrition
37.attritionNehal Vithlani
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Physiological attrition is the wearing away of teeth due to normal tooth contact during chewing. It helps maintain a proper crown-to-root ratio and allows for third molar eruption. Pathological attrition occurs due to abnormalities like abnormal chewing habits, coarse foods, or structural defects. Clinical features include polished facets on tooth surfaces and a gradual reduction in cusp height. Radiographs show shortened crowns and thickened secondary dentin. Management focuses on habit correction, treating malocclusions, and addressing sensitivity issues.36.premature exfoliation
36.premature exfoliationNehal Vithlani
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Premature exfoliation of teeth can be caused by genetic conditions like papillon L竪fevre's syndrome, nutritional disorders such as hypophosphatasia and cycling neutropenia, or other diseases including histiocytosis and acrodynia. Clinically, it results in bone loss around teeth and the loosening, migration, and spontaneous loss of teeth. The only management is to address the underlying etiological factors causing premature exfoliation when possible.35.ectopic eruption
35.ectopic eruptionNehal Vithlani
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Ectopic eruption occurs when teeth erupt in abnormal locations, not their normal positions. Large teeth or a small jaw can cause this, as well as local developmental issues. Teeth may erupt lingually rather than normally, and can cause root resorption or premature loss if they become locked in place. Management involves using brass looped wires to guide teeth into proper positions.Ad
1.definitions
- 1. Definitions
- 2. Congenital Present at or before birth but not necessarily inherited that is transmitted through the genes
- 3. Hereditary They are apparent at birth but some may not become evident for years
- 4. Autosomal dominant inheritance Every affected person has at least one affected parent males and females are both affected likely there is no skipping of generation affected person typically transmits rates to their offsprings
- 5. Autosomal recessive inheritance Appear only in their siblings, not on their offsprings parent or other relatives One fourth siblings are affected males and females are equally likely to be affected
- 6. X-linked dominant Since females have twice as many X chromosomes, they exhibit a higher frequency of trait affected female will transmit the genes to half of her offsprings
- 7. X-linked recessive Incidence of the trait is much higher in males than in females