The student will participate in the evaluation and management of children with metabolic/genetic disorders of those children suspected of having such disorders.
The successful completion of a 3rd year clerkship in pediatrics.
Upon completion of this elective the student will be able to:
- Obtain a family history emphasizing genetic principles and demonstrating an awareness of the manifestation of inherited metabolic disorders
- Perform a physical exam emphasizing the features of dysmorphic and metabolic syndromes
- List a differential diagnosis which includes likely and possible genetic/metabolic diseases
- Outlines a plan of therapy which is compatible with accepted biochemical and physiological principles
- List a specific genetic counseling plan to each family
- List the indications for specific laboratory tests commonly used in the diagnosis of metabolic and genetic disorders. This list needs to be extensive, but need not include every possible test
- Attend genetic and metabolic clinic
- Respond to requests for consultations from genetic metabolic service
- Make ward rounds weekly with each patient
- Attend clinics which have special interest: lumatology, neurology, pulmonary, nephrology, other...
- Attend x-ray conference, grand rounds and resident noon conference and make a contribution to at least one of these conferences
- Present a paper at the end of the rotation which demonstrates in depth work on one genetic/metabolic concept
- Observations by the facility