Handbook of Genetic Counseling/Dysmorphic Features - Hypotonia
Dysmorphic Features - Hypotonia
- Call Cytolab and see if FISH for Prader-Wili was ever ordered for client.
- What are your concerns? I know that when we talked you mentioned the difficulty in feeding that he experienced before. Is there anything else?
- I've read your chart and looked over the information you told me over the phone, but pretend I don't know anything and tell me why you are here today.
- Review family history
- Review medical history
- Physical exam
- Answer any questions/ order any tests
Review family historyEdit
Review medical historyEdit
- Mom, how long were you in the hospital following birth?
- Was the client "floppy" at birth?
- Can you describe the floppiness and when it began to improve
- What doctors does the client see?
- Neurology…how often and last visit?
- Is the client on any medications?
- Has the client ever had PT, ST, OT?
- Has the client ever been involved in an Early Intervention program?
Explain what findings mean/what tests will be orderedEdit
Describe what we think may be going onEdit
- Any genetic conditions (prader-wili)
- multifactorial inheritance
- sporadic events
Wrap up sessionEdit
- Answer any questions mom might have
- Set up method of returning results to mom
- Set up follow-up appointment?
- Get referrals per instructions from Dr.
The information in this outline was last updated in 2000.