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Hello and welcome to module 7,

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Clinical Data and Dysmorphology.

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This is a little bit of
departure from what we're doing.

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We're getting deeper,

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a little bit further away from the basics

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and deeper into the
clinical nuts and bolts

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of at least one area of genetics.

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That's very important.

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For the course, we're kind of
gradually walking through it,

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much like a clinic visit.

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We have sort of the basics first.

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In the clinic, that's your history.

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When did this start?
How long has it lasted?

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What made it better? What made it worse?

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What are the associated features?

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Those kinds of things.

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Then we talked about family history

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and how to gather that information

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and represent it for the record.

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Now, we're talking about physical exam

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or at least one element of the
physical exam dysmorphology,

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and how to start creating
from that growing dataset,

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differential diagnosis, or
at least a clinical decision

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on what to do next in terms of referral.

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So the diagnostic genetics exam
can be pretty comprehensive.

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As you've seen, things can
go wrong all over the body.

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And if you aren't thorough,

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you might miss a key piece of the pattern.

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While you're doing the exam,

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you start to synthesize the information

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and to categorize the
patient's presentation.

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For example, by the end of the exam,

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you should be able to suggest

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whether the patient
has dysmorphic features

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or is non-dysmorphic,

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meaning has no more than
a couple of minor features

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that wouldn't stand out in a crowd.

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So that may be all you need

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at the point of primary
care evaluation to say,

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"Yes, there is a significant
pattern of dysmorphic features.

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I don't recognize it, but
I wanna send the patient

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to a clinical geneticist who might."

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As you're going through the
reading and the lectures,

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I'd also like you to
think about what changes

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in the life of a person or a family

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when one looks different
from everybody else.

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What emotions does that bring up,

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how should families be supported

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when their newborn has
significant dysmorphic features,

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and when that child is growing up

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through going to school, et cetera,

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and that's the topic for
this week's discussion board.

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The reading this week
is from the textbook,

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simple, single chapter reading.

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I've created a main lecture

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that's based on the book material,

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and I've augmented it as well.

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And then I'm creating a
second shorter lecture

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that goes through some web resources

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that I think are very useful
for education and patient care

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around dysmorphic syndromes.

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That lecture also discusses the use

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of clinical diagnostic criteria,

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which are sort of sets of
semi-quantitative measures

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that are created in an effort

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to make syndrome
diagnosis less subjective.

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Those are useful, even if only to say,

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"Yes, this approach is something

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that might be a clinical diagnosis

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and referral is appropriate."

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In addition to the discussion board,

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there is, of course, an
assignment quite simply this week.

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It is the case study at
the end of the chapter

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that you're reading in the book this week,

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and it is due at the end of the module.

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So welcome to Clinical Data
Synthesis and Dysmorphology.

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Thank you for learning.