Genetics, teratology and metabolic disease

Custodian: Dr. Theresa Wu
Reviewer:
ROYAL COLLEGE OBJECTIVES: GENETICS TERATOLOGY AND METABOLIC DISEASE
  1. Modes, principles, and molecular basis of Mendelian and non-Mendelian inheritance
  2. Embryological basis of malformations, deformations, disruptions, and dysplasias
  3. Environmental factors in fetal development; teratogenesis
  4. Symptoms and signs
    • Dysmorphic features
  5. Conditions
    • Common genetic syndromes
    • Inborn errors of metabolism
USEFUL WEBSITES
  1. New England Consortium: https://newenglandconsortium.org/. Contains acute illness protocols for common Inborn Errors of Metabolism
  2. Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/. Thorough reviews of known genetic conditions. Enter the condition in search bar in the header
  3. OMIM: https://www.ncbi.nlm.nih.gov/omim/. A website where you can enter in combinations of dysmorphisms and congenital defects, and data base will give you a list of possible genetic conditions
  4. Canadian Pediatric Society position statements: https://www.cps.ca/en/documents/tag/genetics

AMERICAN ACADEMY OF PEDIATRICS HEALTH SUPERVISION GUIDELINES
LECTURE NOTES AND REVIEW ARTICLES


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Last updated 22 October 2021.