Hello and welcome to module 7,
Clinical Data and Dysmorphology.
This is a little bit of departure from what we're doing.
We're getting deeper,
a little bit further away from the basics
and deeper into the clinical nuts and bolts
of at least one area of genetics.
That's very important.
For the course, we're kind of gradually walking through it,
much like a clinic visit.
We have sort of the basics first.
In the clinic, that's your history.
When did this start? How long has it lasted?
What made it better? What made it worse?
What are the associated features?
Those kinds of things.
Then we talked about family history
and how to gather that information
and represent it for the record.
Now, we're talking about physical exam
or at least one element of the physical exam dysmorphology,
and how to start creating from that growing dataset,
differential diagnosis, or at least a clinical decision
on what to do next in terms of referral.
So the diagnostic genetics exam can be pretty comprehensive.
As you've seen, things can go wrong all over the body.
And if you aren't thorough,
you might miss a key piece of the pattern.
While you're doing the exam,
you start to synthesize the information
and to categorize the patient's presentation.
For example, by the end of the exam,
you should be able to suggest
whether the patient has dysmorphic features
or is non-dysmorphic,
meaning has no more than a couple of minor features
that wouldn't stand out in a crowd.
So that may be all you need
at the point of primary care evaluation to say,
"Yes, there is a significant pattern of dysmorphic features.
I don't recognize it, but I wanna send the patient
to a clinical geneticist who might."
As you're going through the reading and the lectures,
I'd also like you to think about what changes
in the life of a person or a family
when one looks different from everybody else.
What emotions does that bring up,
how should families be supported
when their newborn has significant dysmorphic features,
and when that child is growing up
through going to school, et cetera,
and that's the topic for this week's discussion board.
The reading this week is from the textbook,
simple, single chapter reading.
I've created a main lecture
that's based on the book material,
and I've augmented it as well.
And then I'm creating a second shorter lecture
that goes through some web resources
that I think are very useful for education and patient care
around dysmorphic syndromes.
That lecture also discusses the use
of clinical diagnostic criteria,
which are sort of sets of semi-quantitative measures
that are created in an effort
to make syndrome diagnosis less subjective.
Those are useful, even if only to say,
"Yes, this approach is something
that might be a clinical diagnosis
and referral is appropriate."
In addition to the discussion board,
there is, of course, an assignment quite simply this week.
It is the case study at the end of the chapter
that you're reading in the book this week,
and it is due at the end of the module.
So welcome to Clinical Data Synthesis and Dysmorphology.
Thank you for learning.