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Professional Conduct
& Attitude
Skills
Knowledge
Health Supervision
Growth
Development
Behavior
Nutrition
Prevention of Illness
Issues Unique to Adolescence
Issues Unique to Newborns
Medical Genetics
Common Illnesses
& Problems
Common Chronic Illnesses/Disabilities
Therapeutics
Fluid & Electrolyte Management
Poisoning
Pediatric Emergencies
Child Abuse
Child Advocacy
Clinical Cases
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Medical Student Curriculum Guide
Knowledge—Medical Genetics &
Genetic Malformations
Rationale
A physician should be able to distinguish between genetic and non-genetic
congenital disorders, as well as recognize genetic diseases presenting later in
childhood. A genetic disorder, a condition caused by abnormal genes or
chromosomes, should be contrasted with a congenital malformation, one which is
apparent at birth and not known to be related to any specific genetic
abnormality. Genetic abnormalities may produce congenital malformations,
metabolic disturbances, specific organ dysfunction and abnormalities of sexual
differentiation. Growth and development may be adversely affected by both
genetic disorders and congenital malformations.
Learning Objectives
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Discuss common physical exam findings and implications associated with the
diagnosis of:
Chromosomal abnormalities (e.g. Trisomy 21)
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Sex Chromosome abnormalities (e.g. Turner's syndrome, Klinefelter
syndrome, Fragile X syndrome)
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Other genetic disorders (e.g. Cystic Fibrosis, Sickle Cell Disease)
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Congenital malformations (e.g. spina bifida)
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Construct a family pedigree.
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Identify commonly used prenatal diagnostic techniques and their uses, e.g.
alpha-fetoprotein, amniocentesis.
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Discuss the effects of teratogenic agents including: alcohol, hydantoin,
maternal tobacco smoking, illicit drug use.
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Collect relevant information, including history and physical exam, to
evaluate a genetic disorder or congenital defect.
Competencies
- Gather basic data from history/physical exam and consider
useful laboratory tests when evaluating a child with a possible
common genetic disorder or a congenital malformation.
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