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[Dr. Bob Wildin] Okay,
just a really quick rundown

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on clinical diagnostic criteria,

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an overview for this dysmorphology

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and clinical assessment module.

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So, clinical diagnostic
criteria are basically developed

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for disorders with significant overlap

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so that some clarity can
be had with regard to

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what the specific disorder is,
and whether it meets sort of,

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a minimal threshold for being diagnosed

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below that threshold.

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The specificity of that
diagnosis tends to fail.

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So they're typically based on large groups

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of collaborative data, different clinics,

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different sites who come
together and compare

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their clinical data on physical features,

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on ages of onset,
behaviors, things like that.

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And they come up with, basically a model

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where the clinical
diagnostic threshold is set,

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such that it much more often

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correctly diagnoses a
patient than incorrectly,

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and it may include some scoring systems.

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An example that's used in
joint hyper-mobility system

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is the Beighton,
B-E-I-G-H-T-O-N scoring system,

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which is basically a standardized score

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for generalized joint hyper-mobility.

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These criteria tend not to
be strictly exclusionary,

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meaning that if you
don't meet the criteria,

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it doesn't necessarily
exclude that diagnosis.

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But you ought to think
twice about relying totally

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on that diagnosis because you
may be missing something else.

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Because the data and the support

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and the delineation of
individual subtypes of disorders

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vary over time as we learn
more and more about them,

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and we see more patients
with more variations of them,

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the disease classification systems

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and the diagnostic criteria
tend to change every,

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you know, five, 10, 15 years.

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So you do want to kind of try to look for

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the most recent version,

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because those are the most authoritative

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and the most supported
by current evidence.

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So examples of clinical
diagnostic criteria

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include those for Marfan syndrome,

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for neurofibromatosis type one,

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and for Ehlers-Danlos
syndrome of multiple types.

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I use those clinical diagnostic criteria

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to help me decide who
needs genetic testing,

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and who will not benefit
from genetic testing,

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and who needs to be
followed, prospectively,

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with screening procedures.

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So, for example, on Marfan syndrome,

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most of the time I do a
Marfan syndrome evaluation

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plus an echocardiogram.

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Two evaluations give me a pretty good idea

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as to whether or not
Marfan syndrome is present.

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When things are unclear is
when I resort to clinical,

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genetic gene sequencing
for Marfan syndrome.

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The same is true of
neurofibromatosis type one.

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I often get children who are referred

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for multiple cafe-au-lait
spots on the skin,

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which are themselves benign.

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Often they're not present at birth,

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they develop in the first
couple years of life,

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and then they may add more and more spots

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or they may become more evident over time.

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So having some criteria about what is

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just a normal amount
of hyperpigmented spots

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and what constitutes an increased
risk for neurofibromatosis

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is an important distinction
with respect to follow up.

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So that's a system that
I use frequently as well.

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Ehlers Danlos syndrome,

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as I mentioned in the previous
lecture, has multiple types,

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and the differentiation of
those has changed over time.

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So I try to use a classification system

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and the diagnostic criteria therein

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to help define who meets
the baseline diagnosis

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for Ehlers Danlos syndrome of any type,

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much less specific, more concerning types,

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such as the vascular ecchymotic type.

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So that's a quick overview of
clinical diagnostic criteria

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and how they're used in the context

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of dysmorphology and syndrome diagnosis.

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Hi, it's Dr. Bob Wildin again.

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I wanted to bring to light
some excellent online resources

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regarding dysmorphology
and syndrome diagnosis.

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These are just to supplement

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the reading and lecture materials,

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and these are resources
that you can continue to use

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well after the course has completed.

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So the first one is a catalog
of dysmorphic features,

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called "The Elements of Morphology,"

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and it is a compendium of
standardized terminology

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that was arrived at by consensus
among dysmorphologists.

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It contains an organization,
basically by body part,

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and has pictures of the features,

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which are pretty hard to come by,

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in electronic format anyway,

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because most of the clinical
pictures are in books

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or are covered by copyrights.

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So since this is something
that was developed by NIH,

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it should not have copyright protection.

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So I'm gonna open this
up really quick and,

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show you what this looks like.

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Maybe make it a little bit bigger.

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So it's sponsored by

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the National Human Genome
Research Institute,

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part of the NIH, and it
has a little description

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of how this was developed.

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There's a body with little
links for the different regions

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that each of the areas
is categorized into.

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There's also a navigation menu
over here on the left side,

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which is essentially
the same list of things.

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So let's go to the lips,
mouth, and oral region.

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And there's a list here.

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I'll kind of scroll down

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and you can see the different things.

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We talked in the lecture about

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thin upper lip or vermilion border.

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There's also an averted upper lip.

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So there's different kinds of things.

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And there's the picture over here.

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If you wanna get a better picture
of it, you can click on it

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and it gives you a
little bit bigger thing.

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So this lip, this upper vermilion border

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is a little bit out-turned,
in a way, in this individual.

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So they have ears and around the eyes,

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head and face terminology,
hands and feet, and references.

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So this is really a pretty nice resource

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for looking for pictures
for dysmorphology features

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and picking out the right terms

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that are associated with them.

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Okay.

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So we're gonna continue on,

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and just to give an example here

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are prominent fingertip pads.

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It gives a definition
and descriptive comments

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as well as synonyms and old terminology.

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And this is a example.

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So it's these little areas
on the pads of the fingers

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where they're sort of,

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it's almost as if the skin
is tinted up a little bit.

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Those are what we used to call prominent,

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fetal fingertip pads, and
now they're just called

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fingertip pads or
prominent fingertip pads.

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Okay, so here's another
resource called the

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"Atlas of Malformation Syndromes
in Diverse Populations."

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So this is actually a
fairly recent resource

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that was added when we realized

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that most of the picture records we have

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for teaching about dysmorphology

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were in Northern European populations,

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and those derived from them.

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So we were missing a lot of
ethnic variation and so forth.

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And a group got together

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and started collecting these images.

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It's still a process in the works.

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Not all features are represented,

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not all syndromes are represented,

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but there's a lot of information there.

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And if you ever have some
question about whether

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a particular gestalt
faces in an ethnic group

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that you don't see very often

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is related to the ethnic group, you know,

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the features associated
with that ethnicity

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or is actually really
a syndrome associated,

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gestalt then this is a resource
that you can mine for that.

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So the disorders are
organized by geographic region

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or by syndrome name.

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And this picture is of a Chinese girl

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with Williams syndrome.

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So if you know Williams syndrome,

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if you look at the Caucasian
pictures of William syndrome,

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you can begin to sort of compare

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the dysmorphic features
that are quite similar.

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Sometimes they really look
similar and sometimes they don't.

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So it's an interesting exercise

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and I'll just click on that and open it up

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and we'll see, again,
it's housed at N-H-G-R-I

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and you can, over here on the left,

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browse by condition or
browse by geography.

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And I just clicked on geography.

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So Asia, Malaysia, Noonan syndrome.

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Since we covered that
before, I'm gonna have to,

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somehow I lost that opening.

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So there's a couple of
boys with Noonan syndrome,

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in Malaysia.

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So, and each of those will expand as well.

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So that's a really fun,
interesting, and useful resource.

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Okay, this is one that
everybody should know about.

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It's basically a catalog of
genetic disorders and genes.

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That was really the first medical database

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to be developed on a
computer, back in the 1960s,

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and it was started at
Johns Hopkins University

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as the Online Mendelian
Inheritance in Man.

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Before it was online,

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it was available on little floppy disks.

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And it came after the
publication of books.

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The online version came after
the publication of books,

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which were essentially printouts
of these really original

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electronic databases of
Mendelian Inheritance in Man.

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So that's kind of an
interesting historical point.

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The pattern of development of this

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was basically that experts
would read the literature

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and they would add a
summary of relevant articles

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to an entry that they
had created with a number

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that made it a specific
reference-able entity.

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So there's an ID number associated
with each entry in OMIM.

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And over time, it's kept
that basic structure,

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but it's added a lot more things,

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like a lot of links into
other databases at NCBI.

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And it has some really useful features,

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like clinical synopsis, which
is basically a feature list,

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and something called phenotypic series is

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here is a set of disorders
which are either,

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you know, identical
and non distinguishable

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or very overlapping, and
what are the sets of genes

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and that are associated
with that phenotypic series.

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And then as I mentioned,

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the links to the clinical resources.

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So just a really quick look here at OMIM.

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And it often comes up with
this donation request.

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That's has to do with funding.

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It's traditionally been funded by NIH,

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in particular N-H-G-R-I,
and there is some friction

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about how much funding it should get.

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So they're asking for donations.

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You do not have to donate to use it.

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So you can search for, let's see,

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you can search for a syndrome
like Williams syndrome.

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All right, and you get a list of things

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which have that in the name.

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You can, as for most databases,
put quotes around a phrase

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and try to force it into a phrase.

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That sometimes works
better than other times.

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And even at this level, William syndrome

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is the same as William-Beuren syndrome.

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You can open up this gene
phenotype relationships

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and see that this is the only disorder

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that's associated with
this particular gene

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and its inheritance.

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So you can go direct,
this is its ID number,

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and you can go direct and read about

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the gene phenotype relationship.

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There is a button here
that'll take you to a new page

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that has a clear description
of the clinical features,

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but you can also use this
quick little dropdown button

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to scroll through a summary
of what those features are.

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And these little blue marks are links

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that bring you back into
that elements of morphology

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that we talked about a few minutes ago.

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Okay, so there are links there

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that will bring you to
pictures of the features.

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All right?

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So one of the things about this disorder,

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Williams syndrome is they have

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a gregarious, friendly personality,

257
00:15:24,840 --> 00:15:28,260
and there's this sort of classic phrase

258
00:15:28,260 --> 00:15:30,150
is they have a cocktail party personality.

259
00:15:30,150 --> 00:15:32,130
Well, I don't know whether
people know anymore

260
00:15:32,130 --> 00:15:34,230
what a cocktail party personality is,

261
00:15:34,230 --> 00:15:38,340
but it's someone who is able
to walk up to other people

262
00:15:38,340 --> 00:15:43,340
and chat with them happily,
and everybody has a good time.

263
00:15:43,410 --> 00:15:48,150
That sometimes can compensate,

264
00:15:48,150 --> 00:15:52,860
at least in a casual, social
situation, for the fact that

265
00:15:52,860 --> 00:15:56,130
there is mental retardation
present in the majority,

266
00:15:56,130 --> 00:15:59,340
but not all patients
with Williams syndrome.

267
00:15:59,340 --> 00:16:01,230
So that's the way you can do it.

268
00:16:01,230 --> 00:16:05,412
You can also search for, for example,

269
00:16:05,412 --> 00:16:09,780
let's see, I'm trying to think
of something fairly specific.

270
00:16:09,780 --> 00:16:11,470
We could search for

271
00:16:13,350 --> 00:16:16,593
Chiari malformation, which is
not gonna be very specific,

272
00:16:17,910 --> 00:16:22,680
and we get a list of disorders that are

273
00:16:22,680 --> 00:16:25,470
named Chiari malformation
as well as others

274
00:16:25,470 --> 00:16:29,700
that have Chiari as a
common feature there.

275
00:16:29,700 --> 00:16:32,274
So one really quick tip about OMIM

276
00:16:32,274 --> 00:16:35,910
is that in the classification scheme,

277
00:16:35,910 --> 00:16:39,990
the disorders are all given an ID number.

278
00:16:39,990 --> 00:16:43,320
When it looks like it
may be a real disorder,

279
00:16:43,320 --> 00:16:45,690
but the gene hasn't been identified,

280
00:16:45,690 --> 00:16:48,000
gene or genes hasn't been identified,

281
00:16:48,000 --> 00:16:53,000
or it's maybe polygenic, it
gets a percent sign symbol.

282
00:16:53,190 --> 00:16:54,180
Okay?

283
00:16:54,180 --> 00:16:57,120
So here if you go over that,
it says phenotype description

284
00:16:57,120 --> 00:16:59,580
or locus molecular basis unknown.

285
00:16:59,580 --> 00:17:01,050
All right?

286
00:17:01,050 --> 00:17:03,240
Once you find the first gene for it,

287
00:17:03,240 --> 00:17:07,380
then it can convert into a pound
sign phenotype description,

288
00:17:07,380 --> 00:17:09,420
molecular basis known.

289
00:17:09,420 --> 00:17:10,680
All right?

290
00:17:10,680 --> 00:17:12,750
So those are ways that
you can look and see,

291
00:17:12,750 --> 00:17:16,200
well, you know, if there's
no molecular basis known,

292
00:17:16,200 --> 00:17:19,260
genetic testing isn't gonna
be available for that.

293
00:17:19,260 --> 00:17:21,240
That's a really quick point.

294
00:17:21,240 --> 00:17:24,510
The other point is that you
see some of the ID numbers

295
00:17:24,510 --> 00:17:28,170
start with one, and some
of them start with two,

296
00:17:28,170 --> 00:17:30,960
and others yet start with three,

297
00:17:30,960 --> 00:17:33,240
and still others start with six.

298
00:17:33,240 --> 00:17:34,710
So what does that mean?

299
00:17:34,710 --> 00:17:37,140
It turns out that in the
original classification,

300
00:17:37,140 --> 00:17:39,150
if it started with a one,

301
00:17:39,150 --> 00:17:41,763
it meant that it was an
autosomal dominant disorder.

302
00:17:43,011 --> 00:17:43,844
If it started with a two,

303
00:17:43,844 --> 00:17:45,750
it was an autosomal recessive disorder.

304
00:17:46,822 --> 00:17:47,655
If it was started with a three,

305
00:17:47,655 --> 00:17:49,480
it was an X-linked recessive disorder.

306
00:17:50,550 --> 00:17:51,990
And then it became kind of complicated

307
00:17:51,990 --> 00:17:53,850
because we realized that
some of the disorders

308
00:17:53,850 --> 00:17:58,530
had multiple modes of inheritance

309
00:17:58,530 --> 00:18:00,543
or that the inheritance wasn't clear.

310
00:18:01,530 --> 00:18:05,310
And we, the OMIM started classifying those

311
00:18:05,310 --> 00:18:08,760
with a first number of six.

312
00:18:08,760 --> 00:18:11,430
And genes were also classified
with the first number of six.

313
00:18:11,430 --> 00:18:13,920
So that system kind of broke down,

314
00:18:13,920 --> 00:18:17,670
but for a lot of places in
OMIM you can still utilize

315
00:18:17,670 --> 00:18:20,190
the one, two, and three as a dominant,

316
00:18:20,190 --> 00:18:23,470
recessive and X-linked, and
that's still quite accurate

317
00:18:24,690 --> 00:18:26,040
as a way of of finding that.

318
00:18:26,040 --> 00:18:27,590
So when you go to one of these,

319
00:18:30,780 --> 00:18:33,630
let's not pick that one,
let's pick a different one.

320
00:18:33,630 --> 00:18:35,103
Let's pick Noonan syndrome.

321
00:18:36,060 --> 00:18:38,550
There's the clinical
synopsis, and we've talked,

322
00:18:38,550 --> 00:18:40,050
and it'll have those facial features

323
00:18:40,050 --> 00:18:42,660
that we talked about in
the dysmorphology lecture,

324
00:18:42,660 --> 00:18:45,150
and then there's also
this phenotypic series.

325
00:18:45,150 --> 00:18:46,770
Now this is a really good example

326
00:18:46,770 --> 00:18:50,160
because there are multiple
forms of Noonan syndrome

327
00:18:50,160 --> 00:18:54,360
that are due to mutations
in different genes.

328
00:18:54,360 --> 00:18:57,930
They all have clinical overlap,
strong clinical overlap,

329
00:18:57,930 --> 00:18:59,670
and it turns out if you are a biochemist

330
00:18:59,670 --> 00:19:02,490
and you look at this, you can
say, well almost all of these

331
00:19:02,490 --> 00:19:06,243
are in the same biochemical pathway.

332
00:19:07,320 --> 00:19:10,200
So there's KRAS and NRAS,
so they're both RASs,

333
00:19:10,200 --> 00:19:14,370
BRAF is downstream of KRAS, as is RAF1.

334
00:19:14,370 --> 00:19:18,660
PTPN11 is an inhibitor of that pathway.

335
00:19:18,660 --> 00:19:23,660
And so there are a
bunch of different genes

336
00:19:25,490 --> 00:19:29,430
which can produce more or
less the same phenotype.

337
00:19:29,430 --> 00:19:33,600
And this is a context where
you might think, okay,

338
00:19:33,600 --> 00:19:36,570
I am not gonna test for them one by one

339
00:19:36,570 --> 00:19:38,010
because I have a gene panel where I can

340
00:19:38,010 --> 00:19:39,720
look at all of these at once

341
00:19:39,720 --> 00:19:44,720
and come down to the
answer fairly efficiently.

342
00:19:46,200 --> 00:19:48,050
I will also point out that there are,

343
00:19:49,740 --> 00:19:51,410
the inheritance pattern is listed here

344
00:19:51,410 --> 00:19:54,240
as autosomal dominant for most of them.

345
00:19:54,240 --> 00:19:56,613
This one, NS2 is autosomal recessive.

346
00:19:57,750 --> 00:19:59,040
There's another one
that's autosomal dominant,

347
00:19:59,040 --> 00:20:00,630
that's the same gene, right?

348
00:20:00,630 --> 00:20:04,213
So, and that has this six
number at the very beginning

349
00:20:04,213 --> 00:20:08,610
of the gene number and
the phenotype number.

350
00:20:08,610 --> 00:20:13,610
So there's these situations
where it gets kind of complex.

351
00:20:13,920 --> 00:20:15,420
And then there's another one here,

352
00:20:15,420 --> 00:20:18,180
Noonan syndrome two, autosomal recessive,

353
00:20:18,180 --> 00:20:21,570
probably a case report
that has not been mapped,

354
00:20:21,570 --> 00:20:24,706
doesn't have, or does have a gene here,

355
00:20:24,706 --> 00:20:28,440
but it says it hasn't been
mapped, which is a bit odd.

356
00:20:28,440 --> 00:20:29,370
In any case,

357
00:20:29,370 --> 00:20:32,580
this resource can provide
you a lot of information.

358
00:20:32,580 --> 00:20:34,590
We're gonna close that little popup.

359
00:20:34,590 --> 00:20:37,200
And the organization
is pretty much the same

360
00:20:37,200 --> 00:20:40,290
as a one line text summary.

361
00:20:40,290 --> 00:20:43,682
There's a description of the disorder.

362
00:20:43,682 --> 00:20:46,560
It talks about the genetic heterogeneity

363
00:20:46,560 --> 00:20:48,000
that we just just mentioned

364
00:20:48,000 --> 00:20:51,460
and has links to a bunch of
other forms of the disorder

365
00:20:52,680 --> 00:20:54,900
and talks about some other disorders

366
00:20:54,900 --> 00:20:57,450
that you might also wanna look at.

367
00:20:57,450 --> 00:21:01,800
A sort of a historical article summary,

368
00:21:01,800 --> 00:21:06,800
a literature summary of
the patient descriptions.

369
00:21:07,110 --> 00:21:09,540
Now Noonan is known to
be really pretty common.

370
00:21:09,540 --> 00:21:12,030
So we're not gonna get every article

371
00:21:12,030 --> 00:21:13,530
ever written about Noonan syndrome,

372
00:21:13,530 --> 00:21:17,010
but basically how that syndrome

373
00:21:17,010 --> 00:21:20,582
was historically developed through time.

374
00:21:20,582 --> 00:21:24,270
Other features that you might see,

375
00:21:24,270 --> 00:21:28,233
giant cell lesions, hematologic
abnormalities and leukemia,

376
00:21:29,580 --> 00:21:33,900
and inheritance patterns,
population genetics,

377
00:21:33,900 --> 00:21:36,600
how the gene was mapped,

378
00:21:36,600 --> 00:21:39,840
and chromosome studies
that may have been done

379
00:21:39,840 --> 00:21:41,730
early on in trying to find out,

380
00:21:41,730 --> 00:21:46,730
before we had molecular methods,
and clinical management.

381
00:21:47,100 --> 00:21:49,470
Mostly OMIM doesn't have a
lot on clinical management.

382
00:21:49,470 --> 00:21:51,120
I would go to gene reviews for that,

383
00:21:51,120 --> 00:21:53,670
we're gonna talk about that in a moment.

384
00:21:53,670 --> 00:21:56,770
But it does have a great
deal of information

385
00:21:57,690 --> 00:22:02,690
about the disorder, and
particularly historically,

386
00:22:03,270 --> 00:22:07,230
and has some of the original references.

387
00:22:07,230 --> 00:22:12,230
Some OMIM entries also have
a set of mutant allele.

388
00:22:14,460 --> 00:22:19,460
So before ClinVar and other
databases were developed

389
00:22:19,770 --> 00:22:23,970
and we started sequencing genes
and coming up with variants

390
00:22:23,970 --> 00:22:25,860
that seemed to be pathogenic,

391
00:22:25,860 --> 00:22:28,020
OMIM was the natural
place to record those.

392
00:22:28,020 --> 00:22:31,320
So a number of those are recorded in OMIM,

393
00:22:31,320 --> 00:22:33,540
during a particular time span,

394
00:22:33,540 --> 00:22:35,550
and then other databases
kind of took that over.

395
00:22:35,550 --> 00:22:37,410
But that's sort of a legacy feature

396
00:22:37,410 --> 00:22:41,943
that you'll see in many
OMIM disorder entries.

397
00:22:42,930 --> 00:22:44,520
Over here in the clinical resources,

398
00:22:44,520 --> 00:22:48,000
you can link to gene reviews,

399
00:22:48,000 --> 00:22:50,250
which we're about to talk
about Genetics Home Reference,

400
00:22:50,250 --> 00:22:52,260
which you guys know about.

401
00:22:52,260 --> 00:22:54,990
And GTR, which is
Genetic Testing Registry,

402
00:22:54,990 --> 00:22:57,870
we'll talk about that
in the testing module,

403
00:22:57,870 --> 00:23:01,050
and other kinds of of resources.

404
00:23:01,050 --> 00:23:04,860
So there's just a navigation
panel here on the left.

405
00:23:04,860 --> 00:23:09,142
So OMIM was a really old,
a venerable workhorse,

406
00:23:09,142 --> 00:23:11,703
that can be very helpful.

407
00:23:12,630 --> 00:23:16,590
All right, so gonna move on to...

408
00:23:16,590 --> 00:23:19,590
And this was just a picture
of Van Der Woude syndrome,

409
00:23:19,590 --> 00:23:21,960
which we saw some lip pictures of,

410
00:23:21,960 --> 00:23:23,733
or in the dysmorphology lecture.

411
00:23:24,750 --> 00:23:27,780
But let's move on to GeneReviews.org.

412
00:23:27,780 --> 00:23:30,150
It's part of the NCBI books,

413
00:23:30,150 --> 00:23:32,430
but most easily reached
when you're, you know,

414
00:23:32,430 --> 00:23:34,530
in a browser and some random machine

415
00:23:34,530 --> 00:23:39,450
by typing in GeneReviews.org
into your browser address bar,

416
00:23:39,450 --> 00:23:44,450
and it will pull up the
gene reviews in NCBI Books.

417
00:23:45,210 --> 00:23:48,480
It is authoritative, curated, updated,

418
00:23:48,480 --> 00:23:51,780
and consistently organized,
which really takes it way beyond

419
00:23:51,780 --> 00:23:56,780
most other resources in terms
of usability and reliability.

420
00:23:56,940 --> 00:24:00,450
It contains diagnostic and
management recommendations,

421
00:24:00,450 --> 00:24:02,580
one of the few places where
management recommendations

422
00:24:02,580 --> 00:24:04,230
are clearly laid out.

423
00:24:04,230 --> 00:24:06,060
And it includes genetic information

424
00:24:06,060 --> 00:24:08,250
and genetic counseling overview.

425
00:24:08,250 --> 00:24:12,960
So here's an example of
the Williams syndrome area

426
00:24:12,960 --> 00:24:14,370
and rather than open it up,

427
00:24:14,370 --> 00:24:18,233
I'm just gonna sort of point
out some areas of value.

428
00:24:21,210 --> 00:24:25,290
Here, so this is the search
box you wanna search in,

429
00:24:25,290 --> 00:24:26,790
here, not here.

430
00:24:26,790 --> 00:24:30,060
If you search up here, you
get everything in NCBI books.

431
00:24:30,060 --> 00:24:30,990
This one will come up,

432
00:24:30,990 --> 00:24:34,563
but it's much more efficient
to search in this box here.

433
00:24:35,700 --> 00:24:38,790
It gives you a summary, which it can be

434
00:24:38,790 --> 00:24:40,290
a couple of paragraphs,
three, four paragraphs,

435
00:24:40,290 --> 00:24:42,390
and always has clinical characteristics,

436
00:24:42,390 --> 00:24:45,660
diagnosis, management summary,

437
00:24:45,660 --> 00:24:48,270
and genetic counseling
down here at the bottom.

438
00:24:48,270 --> 00:24:49,770
After that is really, essentially,

439
00:24:49,770 --> 00:24:52,920
a full book chapter on this disorder.

440
00:24:52,920 --> 00:24:55,110
And you can jump through the
book chapter quite easily

441
00:24:55,110 --> 00:24:59,220
by using this navigation
thing over here on the right.

442
00:24:59,220 --> 00:25:03,540
So I'll often go to diagnosis
or clinical characteristics,

443
00:25:03,540 --> 00:25:05,100
or differential diagnosis, so I'll say,

444
00:25:05,100 --> 00:25:06,420
it looks kind of like Williams syndrome,

445
00:25:06,420 --> 00:25:08,040
but I don't think it is.

446
00:25:08,040 --> 00:25:09,900
So let me see what other people think

447
00:25:09,900 --> 00:25:11,190
overlaps with Williams syndrome.

448
00:25:11,190 --> 00:25:13,320
What are things that look like
it that you need to consider?

449
00:25:13,320 --> 00:25:15,450
And you can just click on that link

450
00:25:15,450 --> 00:25:17,970
and move down in the
article to that segment.

451
00:25:17,970 --> 00:25:19,860
The other area I use a
lot is the management.

452
00:25:19,860 --> 00:25:21,330
What are the management recommendations

453
00:25:21,330 --> 00:25:23,400
for when a new diagnosis is made?

454
00:25:23,400 --> 00:25:25,350
What are the management recommendations

455
00:25:27,330 --> 00:25:30,600
for annual surveillance
or periodic surveillance

456
00:25:30,600 --> 00:25:33,600
for issues that may come
up in this disorder.

457
00:25:33,600 --> 00:25:35,910
Molecular genetics may help you understand

458
00:25:35,910 --> 00:25:38,880
the types of testing that may be helpful

459
00:25:38,880 --> 00:25:40,713
for confirming the diagnosis.

460
00:25:41,593 --> 00:25:44,730
And then the genetic counseling section

461
00:25:44,730 --> 00:25:49,230
will tell more in detail
about the mode of inheritance,

462
00:25:49,230 --> 00:25:51,420
the genetic counseling issues,

463
00:25:51,420 --> 00:25:56,070
and have resources for that as well.

464
00:25:56,070 --> 00:25:58,710
There is a resource section here,

465
00:25:58,710 --> 00:26:02,400
which is sort of organizations

466
00:26:02,400 --> 00:26:04,680
that focus on that particular disorder

467
00:26:04,680 --> 00:26:07,830
that you may wanna refer
your patient's family to

468
00:26:07,830 --> 00:26:10,560
for more support and more information.

469
00:26:10,560 --> 00:26:12,843
So those are all really, really good.

470
00:26:13,770 --> 00:26:16,148
There are links here

471
00:26:16,148 --> 00:26:21,148
which links out to other kinds of things.

472
00:26:22,350 --> 00:26:27,350
It links to the specific tests
in genetic testing resource,

473
00:26:27,420 --> 00:26:29,073
which we'll also cover later.

474
00:26:30,030 --> 00:26:33,810
And tests in genetic testing,
resource by condition.

475
00:26:33,810 --> 00:26:35,747
And then other related information, OMIM,

476
00:26:35,747 --> 00:26:38,520
PubMed Central, and places like that.

477
00:26:38,520 --> 00:26:42,570
So it's really a very,

478
00:26:42,570 --> 00:26:45,990
it's like having a free book
that's updated all the time,

479
00:26:45,990 --> 00:26:50,580
or every year or so, at your
fingertips in the clinic.

480
00:26:50,580 --> 00:26:51,780
Quite wonderful.

481
00:26:51,780 --> 00:26:54,690
All right, so I'm gonna quit there

482
00:26:54,690 --> 00:26:57,997
and move off of this lecture topic.

483
00:27:03,360 --> 00:27:06,120
I appreciate your listening and learning

484
00:27:06,120 --> 00:27:10,413
and I think that's the end of my lecture.