Orofacial Genetics

Code:

MD51002

Acronym:

GO

Keywords
Classification	Keyword
OFICIAL	Biology

Instance: 2011/2012 - 2S

Active?	Yes
Web Page:	http://genetica-fmdup.pt.vu
Responsible unit:	Mestrado Integrado
Course/CS Responsible:	Integrated Master in Dental Medicine

Cycles of Study/Courses

Acronym	No. of Students	Study Plan	Curricular Years	Credits UCN	Credits ECTS	Contact hours	Total Time
MIMD	89	PLANO OFICIAL 2007/2008 BOLONHA	5	-	3	45	81
		Plano de Transição 2º Ano Bolonha 2007	5	-	3	45	81

Teaching language

Portuguese

Objectives

Integration of the dentist in the multidisciplinary team that treats the individual genetically compromised. Provide diagnostic capacity and disease prevention to the dentist in order to identify individuals at risk.

Program

1.Historical evolution and introduction to orofacial genetics. The face and genetic disorders.
The genetic pathology, mutations and polymorphisms. Review the concepts of gene loci and chromosomes.
Detailed examination of the face. Importance of measurement and standards for proper evaluation of the most relevant. Description and recognition of anomalies that can be observed in craniofacial structures. Facial measurements more relevant. Systematic approach to the observation of birth defects and / or genetic.
2.Beby - Seeking genetics?
Extra-oral examination. Intraoral examination. Manifestations of genetic pathology.
3.Pregnant and postpartum - Prenatal Diagnosis and treatment in dentistry.
Prenatal screening. Treatment protocol.
4.Craniofacial desordersgenes and phenotype. Syndromes with craniofacial expression.
Crouzon syndrome. Apert syndrome. Cleido-cranial dysostosis. Osteopetrosis. Pierre Robin sequence. Cherubim. Treacher-Collins syndrome.
5.Dental hereditary pathology.
Tooth eruption and the teeth number anomalies. Dental anomalies of form and size. Anomalies of tooth structure - amelogenesis imperfecta, dentinogenesis imperfecta. Dentin dysplasia. Odontodysplasia.
6.Genetic pathology of skin with oral manifestations.
Focal Dermal Hypoplasia, Gorlin syndrome. Neurofibromatosis. Tuberous Sclerosis. Hypomelanosis of Ito. Incontinentia Pigmenti. Hyperkeratosis. Dyskeratosis congenita. White Sponge Nevus. Epidermolysis Bullosa. ectodermal Dysplasia. Ehlers-Danlos syndrome.
7. Hereditary gingival pathology. Gastrointestinal syndromes with oro-facial manifestations and tongue hereditary pathology.
8.Syndromes with orofacial manifestations and particular interest to the dentist.
Characteristics most important in dentistry. Rieger Syndrome, Nance-Horan Syndrome, Monosuperoincisivodonthic Dwarfism , Johansen-Blizzard syndrome, Prader-Willi Syndrome.
9. Salivary Test - applications in Orofacial Genetics.
Saliva as a means of diagnosis. The crevicular fluid as a means of diagnosis. Key markers. Type of tests - genomics and proteomics applied to dentistry.
Oral Cancer - genetic susceptibility.
10. Markers for genetic pathology in orthodontics.
Importance of early diagnosis of patients at risk.
11. Genetic Test for periodontal disease.
Applications and clinical implications.
12. Genetic Test for peri-implant disease.
Applications and clinical implications.
13.Susceptibility to prosthetic pathology.
Applications and clinical implications.
14.Susceptibility to dental carie.
Applications and clinical implications.

Mandatory literature

Laskaris George; Color atlas of oral diseases in children and adolescents. ISBN: 0-86577-789-6
Gorlin, Robert J.; Syndromes of the head and neck. ISBN: 0-19-504518-1
Scully, Crispian 070; A color atlas of orofacial health and disease in children and adolescents. ISBN: 1-84184-102-1
Buyse, Mary Louise 340; Birth defects encyclopedia. ISBN: 0-86542-228-1
Lewis Ricki; Human genetics

Teaching methods and learning activities

Learning theory
A class T Weekly - 1 hour.

Theoretical-practical learning
TP class 1 week - 1.5 hours.

keywords

Social Sciences, Commerce and Law > Basic programmes
General programmes > Basic programmes
General programmes > Basic programmes
Health sciences
General programmes > Basic programmes > Basic programmes

Evaluation Type

Distributed evaluation with final exam

Assessment Components

Description	Type	Time (hours)	Weight (%)	End date
Attendance (estimated)	Participação presencial	37,50
	Total:	-	0,00

Eligibility for exams

Distributed evaluation with final exam.

Calculation formula of final grade

Theoretical Evaluation (T)
It is made through an examination consisting of multiple choice questions with five or more points. The student points out all the points with V or F. Each point marked wrongly discounts 1/2 of the value of a correct one. This examination will be priced 0 to 20 values.

Evaluation Theory and Practice (TP)
Assigned by the teacher in charge according to the evaluation of work undertaken by the student (written work + oral + continuous assessment). The course grade is 0 to 20.

Endnote
The note is obtained using the following formula:
Theoretical evaluation (45%) + Theory-Practice Evaluation (45%) + Attendance (10%)

The final grade is assessed according to the rules prevailing in the general FMDUP
assessment.

Approval for the curricular unit is effected with a minimum score of 9 values in the theoretical evaluation and with a minimum score of 9 values in evaluation theory-practice.

Admission to the final exam or the appeal is only possible after the completion of a theoretical and practical component.

Defence and proofreading

After completion of each test theoretical-practical and theoretical, will be available the final grade achieved by each student. Students wishing to contest the exam should do so on the date and time indicated by the faculty.

Examinations or Special Assignments

Students whose status allows the system frequency and / or special assessment may request additional assessment.

Special assessment (TE, DA, ...)

Students whose status permits the system of special assessment may request an assessment outside the normal schedule, and safeguarded the assessment components.

Classification improvement

To achieve a grade improvement is mandatory to perform an exam with the disciplines T and TP components, keeping the same evaluation criteria applied at the time of appeal.