Skeletal Dysplasias - SD

Introduction

Good morning.
I'm Philip Jeanti. I work at InVision Women's Ultrasound in
Nashville, Tennessee, and I'm going
to make a presentation this morning about
pH skeletal dysplasia.

Good morning. We're going
to talk about skeletal dysplasia,
and this is an extraordinary broad topic
and the skeletal dysplasia have been divided into a number
of disorders, and I have listed here
for the first classes.

But before we can attempt to do this, I think it's important
to be able to recognize what are the different findings.
And in this presentation,
we will just concentrate on the findings.

That little introduction just to show you that
skeleton has been very
interested, interesting for many people.
And this music was actually from Cammi sauce.
It was the Carnival of Desmo.

Cranial Findings

Let's look at the different findings,
and we're going to divide these into three large group.
First we'll look at the cranial finding
that will include brachycephaly, cran, hyper hypo
and hyper Micronesia, and some of the facial anomalies.
Then we'll move into the actual skeleton finding.
We'll talk about the ribs, the chest per plati, spon lee,
the abnormal virtu births, and so on and so forth.
And then we'll finish by the append skeleton
and then we'll talk about the different disorders of the,
limbs themself.

Let's start with the cranial findings
and they one our good finding genui plu,
who has those clearly marked downs slanting,
super orbital rigids.
Skein to look like g Luigi.

Bone Hypomineralization

One of the first thing
to look at is bone hypo mineralization.
This is a criteria that if it is visible with ultrasound,
it's quite likely otherwise it is unreliable.
Here, for instance, you have a skull with no evidence
of the skull table themself.
Now this is unreliable
because sometime you may have the appearance of a skull,
although on x-ray it would not be present.
That is because ultrasound use reflection while
x-ray use absorption.
But if you find bone hyper mineralization like this,
think about three disorders, agenesis, osteogenesis,
effector, and hypophosphatasia.
So a very simple list of differential diagnosis.

Shape of the Head

Another thing to look at is the shape of the head.
The shape of the head is measured by the cephalic index,
which is the ratio
of the bi diameter over the occipital diameter.
If the head is too round, when we talk about brachycephaly,
while if it's too elongate, we talk about dico Celine.
Now brachycephaly is an indicator of trans 21 in the
newborn and the child.
It is not a reliable indicator in fes.
However, when you see a baby's head
that is too round like these,
this is a normal one for comparison.
When you see a head that is too round,
look at it as a
criteria or a soft marker For tri 21,
there other condition that have brachycephaly,
the Antley Bixler syndrome, partial trisomy nine,
the ring chromosome 11, and of course Cornelia LAR syndrome.

Microcephaly

Micros Sepha is a condition in which the neuro cranium
is too small compared to the visceral cranium.
And in the older day, this was a very tedious
and complicated technique to do that.
And the criteria that had been suggested were a bi
less than the first centile.
And you see the bi here is affected
but is not quite as much affected as the cranial vault
had premier over femur length and so on and so forth.
But they were very poor. 2D criteria.
One of my former fellow Dr.
Junior, had made a much better approach to that.
Using 3D reconstruction, she just
measured the size of the brain using the vocal technique.
And this is how to do this.
You essentially put the gate around the object that you want
to measure as you see over here,
and then start tracing the inside
of the object that you want to measure here
with tracing the skull.
As you can see, the tracing does not
have to be very precise.
It can be corrected later on,
and you go from one landslide to the next slide
and correct the error in which the tracing has not been
anticipated properly by the machine.
Now, that appears like a very tedious thing to do,
but once you have done a couple of them,
this is not such a hardship to do.
And further, it provides a much nicer assessments
of the brain volume
than simply guesstimate from the two
dimensional structure.
And here you see the volume of the brain has been calculated
and you can correct the different slides
to make them a bit more precise
and get a better idea of what the brain should be.
Once you have that, you can put the measurement in a table.
You can put them in a table
and that table gives a a gram
with the size of the brain.
This is a newborn that has a microcephaly.
And you see it also has triple face syndrome.
It has some visual problem.
This is a fairly severe anomaly,
but difficult to recognize.
Prenatally dico. Selene is just the opposite.
Dico is a condition in which the head is switched side
to side, and that occurs in a few conditions such
as premature rupture of the membrane growth restriction
oligo hydros or the ACU medic dysplasia.
Those baby have a head that is too elongated.
As you can see on the scan here.

Dolichocephaly and Scaphocephaly

Now there's a condition that looks like Dani
but is a different condition.
It's called Sani. Now the head is elongated.
S scfo is boat elongated like a little boat.
And this is not due to simply compression,
but this is due to cranial synesthesias of the,
sagal suture.
And that brings to the topic
of craniosynostosis craniosynostosis are premature fusion
of the skulls resulting in the lack of extensibility
of the skull at the level of the suture or the fentanyl.
Remember that a suture is the space
between two bones while a al is the space
between three or more bones.
Now, if bridges occur between some of those bones,
the development of the brain will induce the development
of a skull that is deformed
and the skull will not have the normal shape.
And this is an example here where you see the bridging
that has caused a deformity of the skull.
This is the cl clever leaf shape skull.
Now I'm going to show you a bunch of tables
and those tables have been assessed in the following way.
First I use the keyword here, cranio stores
in omi, and I got 90 syndromes without age limit.
And then to create a limit, I add neonatal
because of course you can get C synosis
that are not present in neonates.
And then I use the same keyword, kosis c synosis
and prenatal ultrasound to find
how many articles had been published in that.
So here we have the list of all the omim list,
and here we have the number of hits in Medline,
and that tells you which are the common one to look for.
Of course, st dysplasia.
Here's one of the top one by the short reproductive syndrome
and the accuracy ectomy are right behind.
This is a baby that has carpenter syndrome.
You see that the ratio
of the bipa diameter over the occipital
diameter is almost one.
And not only that, the space
between the eye is widely separate.
So this baby has hypers.
This is a baby that has thunder for dysplasia Type two.
This is the one with a cleverly shape.
And you can see that the shape
of the head here is far from the normal shape.
We tend to think when we look at the heart, the skull.
And here is the 3D rendering in which you can see the very
abnormal shape of this baby.
As you can see, there's a big gap here.
That gap is not an artifact.
This is the meic suture that has been stretched so thin
that there's essentially no bone at this level.

Frontal Bossing

Another thing to look at is frontal busing
or budging of the forehead.
If you trace the line that interface the intersect, the front of the face here,
that line should not cross the forehead
if the forehead is in that image.
Then we took a about frontal busing.
And this is a normal fetus here.
This is a fetus with th for dysplasia.
And there are several other conditions that present
with frontal busing and they're listed over here.

Midface Hypoplasia

Now, a condition that might appear
as frontal busing is a midface hypoplasia.
Here the problem is not that the forehead is too big, it is
that the midface is too small.
And because of that, when you trace this line
that we were just talking about a second ago,
then the forehead seems to be botching in front.
There is a way to recognize this
and we'll see this in just a second,
but here are some of the syndromes bind.
The syndrome in particular is associated
with midface hypoplasia.
When you scan the fetus at the level of the eye,
you see the image here with a two eye at the same level.
And the root of the nose here, the place
where the nasal bone is, is behind that line
that joined the two eyes.
This is the same thing that you would see if there was no
nasal bone, but as you can see, this baby has a nasal bone.
So the criteria here for midface hypoplasia is
that the eyes are the same level as the
nasal bone and the nasal bone is not absent.
We'll see absence of the nasal bone in just a few slides.

Receding Forehead

The opposite of the standing for
or the bulging forehead, of course, is a standing forehead.
And this is the appearance with the drawing
and with the art ultrasound image.
This is a case of scaphocephaly
and we discussed Stephanie a few slides ago,
and there's much fewer cases of linding forehead.
Of course, if you have a linding forehead, it means
that the frontal lobes are hypoplastic.
And so you're talking about lesions of the brain that weger
or n silver syndrome, for instance, are forms
of Li symphony or problem of the brain.

Wormian Bones

Another anomaly you can look at the bones in the scar is
worming bones then are called worming bones
because they look like worms, but
because they were described by Ola worm, a Danish anatomist
who wrote a letter to Thomas Bar
all the way in 1643.
So this is certainly not a very recent discovery
and this was the Latin letter for those of you
who not fluent Latina have here
a English translation of this letter.
And what he described are little bones that are located in
between the sutures of the ALS here in the anterior al.
And the way to find these is to take a plane
that is posterior and tangential to the skull.
Here we see it going in the poster frontal
here we see it go into the anterior frontal.
And when you look at those planes,
then you can find those little bones in the suture.
Here they are and this is what they look like.
Now this is visible in 2D,
but of course if you have 3D rendering with reconstruction,
then of course you can see them much easier.
And this is the appearance here of those two little bones
with the posterior al and the occipital table over here.
Now why would one in look at women bones,
but they're associated with quite a few
congenital anomalies.
There are also some reported by this being associated
with transmitted 21,
although I've not been able to identify the
original paper in which this was reported,
but several of thecal dysplasia have women bones.

Low Nasal Bridge

Low nasal bridge is a condition in which the normal nasal
bone is hypoplastic or completely absent.
Now this is something that has been known for a long time
and I used to measure this many years ago
by doing a coronal section of the face.
As you can see over here
and in this Corona section, the criteria is there was no
bone in between the eyes at this level.
And so there was a continuous dark echo on ultrasound
between the two eyes.
This is a baby in 2 21.
This is one with cy dysplasia
and there respective ultrasound.
Now of course, since the paper by c from the group of S ide
that was published a couple years ago, everyone has
of course switched to a sal section,
which is much easier to obtain.
And in the sal section you can see clearly the difference
between the no bone bone that is over here
or the hyperplastic bone, for instance, in this case
of traum 21.
And so that is currently the standard of how
to do those measurements.
Now if you look at low nasal bridge,
this is another way
to say ab, absent nasal bone, this is
what the DYS morphologist use.
You can see a lot of syndromes, 140 syndrome,
without age limit and 30 nines
that are present in the neonate.
And in this list,
transmitted syndrome is not even listed.
The reason for that, as you remember, is that omim does not,
deal with chrom anomaly, but of course tri 21
and several of the other UN employees have low bridge.

Micrognathia

Micronesia is a condition in which the mandible is too small
and project backwards,
and it is not always a easy finding to recognize.
Here we have two babies that have a normal mandible,
and here we have two that have a macia.
The one on the right side is really easy to recognize
below the lower lip,
you completely missing the mandible.
And this one here is a bit more settled,
but this baby has trisomy 18.
This is another condition in which having 3D is very useful
because if you do the multiplanar reconstruction,
you can set the baby in the slides such
that you have a perfectly midline sagal section,
and then you can do the reconstruction
and see the presence of the mandible in
its size compared to the rest of the face.
Micrognathia occurs in a large number of syndrome,
233 syndromes without age limit, 27 parental diagnosis.
And this is a list of the condition that are associated
with macia.

Skeleton Findings

Let's move on to the actual skeleton
and here the actual skeleton, we're going to talk about the
rib cage, the spine, and then the pelvic
and shoulder girdles.

Clavicle

And let's start with a bone that is quite interesting.
It is the clavicle.
The clavicle, as you know, looks like a long bone,
but it is not a long bone at all.
This is a bone that has an intra membrane ification
and not endocrin control ification.
You know that all the bones that we have
that derive from the shark, the shark being the fish that has a cartilage skeleton, not a bony skeleton,
it is a primitive fish before the bony fish.
All the bones that we have derived one way
or another from those cartilage bone.
So when evolution needed new bones,
that did not exist in the shock.
And one of them of course is the skull
because the shock had a very tiny brain,
when the evolution needed to have a larger protection
for the brain, especially the visual cortex
that was important for the early amphibians.
What happened is that a adjacent structure, the mechy
that was around it was transformed into a bone
by a direct ossification.
So this is the reason we have intermembrane ification
for some bone versus endocrinal ossification.
Now all the bones that are new, so the shoulder
and the pelvic girdle
and the skull are intermembrane specification
and that is of importance
because some of the conditions
that affects the lung bones will not affect those bones in
particular, you know, the achondroplasia,
they have this big square head,
so they don't have a problem with the head being too small.
They have a problem
with their lung bone being too small, but the head is normal.
However, the Ferin magnum, which is part
of the occipital bone,
the Ferin magnum did exist in the shark.
And so they have stenosis of the Ferin Magnum.
Another association is that babies that have problem
with the clavicle may also have problem
with the skull itself.
So these are babies that have
Plato cranial skeletal dysplasia.
So there are interesting variation
between the formation of those different bones.
Now, when the clavicles are hypoplastic,
it is usually the medial portion that is absent
and only the lateral portion is present.
Here we have the normal clavicles in the normal fetus,
and here we have a very severely hypoplastic clavicle in a
baby with trisomy 18
and another one here with another baby with trisomy 18,
in which about two third
of the clavicle is actually missing.
There are a few syndromes that have hyperplasia,
the clavicle friends, CTO dysplasia,
pycnodysostosis TRAs 1813 hot ram, and so on and so forth.
Now, babies that have the cranial dysplasia also have a
very striking finding.
If you look at the skull at the level of the atopic suture,
instead of having the me atopic suture in front
of the two lateral projection of the frontal bone,
the me atopic suture is actually posterior
and there is some frontal busing that is to the side
of the miopic suture, not to the middle of the meic tissue.
Very typical of cranial dysplasia.
And by the way, those babies also have a delayed fusion
of the mandible, another finding from that condition.

Ribs

Let's go to the ribs now
and some babies have 11 pairs of thoracic ribs.
You know that the segmentation is not set in stone
and there's quite a few variation in the segmentation
of the spinal in the vertebra.
And here we have babies that have 11 pairs of ribs.
Now 11 pairs of ribs is well associated
with certain condition like tra 21,
but it was hard to detect at first.
The only way in the old days was
to make a serial section in which all the roofs could be
counted, one after the other.
This ga became easier when c loop came around
because then we could go make a pass
and then count back how many routes were present.
But of course now this has been simplified dramatically
with the advent of 3D reconstruction.
Here we can count very simply
how many ribs are present in the rib cage of this baby.
And there's quite a few syndromes
that have 11 pairs of ribs.
Of course, tri 21
and 18, two of the important one, ome dysplasia
and several other cleal dysplasia is also here.
And as fixating thoracic uh dystrophy,
the June syndrome is also here.

Now, instead of having 11 pair,
you can also have an extra pair.
This is 13 pairs of rib
and this is associated with a different set of anomaly.
You can also have short ribs
and in short ribs, the rib cage instead
of a normal size is narrow.
And that narrowing is
what caused the lethal dysplasia for being lethal.
The no lethal because of the bones being too short,
the lethal because the rib cage is too short, too loud,
the proper development of the lungs
and that cause the lungs insufficiency
when the baby is born.
So that's a very important criteria to recognize.
Now that is visible in several ways.
You can either use tables with
age independent circumferences or you can use a ratio.
And I think that's the easiest way to do you do a chest
to abdomen ratio.
And visually you can see that the chest is about 80%
to a hundred percent of the size of the abdomen.
If you look in comparison to that, with a baby that has
thi dysplasia, as in this case, you see
that the chest is much smaller in thre dysplasia
than the abdomen.
And so now we have a ratio about 40 to 60%.
That's an important criteria
to recognize the baby has chest hyperplasia.

Now, some time the chest is so narrow
that not only the lungs are compressed,
but the PHAs is also compressed.
And when the oph pha is compressed,
the baby can control it properly and body hi as result.
And here we have two fetuses, one with th pl type one
and one with thia type two.
And you see that both have very narrow chest here and there
and they have poly highness.

Abnormal Short Spine

At the same time, an abnormal short spine result from
vertebral body that are too small, too narrow or missing.
And this is part of Dr. Lewin syndrome or Indian celi.
And in that case, what we see is that the ribs, instead
of having a pal, a comb shaped distribution,
have a fan shaped distribution with the apex
of the ribs pointing
to the same point while the distal portion
of the ribs is pointing far apart.

Embryology of the Vertebra

Let's go a bit over the ambry of the vertebra.
The vertebra has a upper and a lower plateau
and each one contains four ossification center
and there also two ossification center in the
posterior lamina.
Now these four ossification center on top
and the bottom are rapidly going to fuse into two and two
and then into one and one on top.
And in the bottom until those upper
and lower ossification center
do fuse together into one single ossification center At
that time is what we see with the paral ultrasound
around the second trimester we see those three
ossification center which represent the posterial laina
and the EB body.
Now as we know now that the central ification center it made
of several subunits, it is easy
to understand the anomalies of segmentation of the spine.
For instance, we could have a failure of the anterior
and poster ification center diffuse together.
That would be a coronal cleft
or we could have a failure of the superior
and inferior ification center.
That would be an actual cleft,
or we could have a lateral division in which the right side
of the left side fail to fish together.
And then we would have what is called a butterfly vertebra.
And each one is associated with its own set of anomaly
and there's a lot of genetics that is involved
into the division of the vertebra.
Another condition that may happen is that instead
of having the no alignment of a vertebral body, a disc,
another vertebral body, a disc, one
of the disc may be missing and
therefore two vertebra may be fused together
into one large blood vertebrae.
And that occurs in a certain number of conditions also.

Hemi Vertebra

Now, one of those that is quite common is the hemi vertebra.
If we ize the ossification with the
vertebral body and poster lain over here,
this is the normal ossification center resulting into this
normal schematic of vertebral bodies and ribs to the side.
Now, if a part of the vertebra is not formed, for instance,
one side here is not formed, this is going
to result into a scoliosis
or if the frontal, the dorsal
or the ventral aspect of the vertebra doesn't form,
then we either get kyphosis
or low doses of the spine.
And this is going to present an angle in the spine,
of course, if the neural arch doesn't fuse than we
have spina bifida.
Now these are examples of babies that have hemi vertebra
and you can see the nice alignment
of the vertebral body here.
And this forms a curve at the apex
of which we have a broad vertebra.
This vertebra here is larger than the adjacent one,
and this is a block hemi vertebra in which one hemi vertebra
has fused with an adjacent normal vertebra.
This is another example here where the fusion is partial.
This is another example here with infused segment
and another one here with an infused segment segment
and finding another one over here.
This is the baby in the image two years later.
And on clinical exam, it is very hard to recognize
that this little girl has a scoliosis
and that is an important thing to tell the parents
and the pediatrician because the prognosis for the repair
of those baby is better when the treatment is applied early.
So that is something that should be mentioned
during the heart tone that we perform.
Now of course, if you talk about hemi vertebra,
the knee jerk reaction is to look at the heart
because remember the V syndrome V is for vertebra,
but C in the V association is the cardiac anomaly.
So any baby that has a spinal anomaly like this one should
be checked for a cardiac anomaly.

Appendicular Skeleton

Let's move now into the appendicular skeleton
and we're going to look at a great number of terminology
and definition and no one likes to learn about definition
and terminology, but it is important
because that baby
that you're scanning at some point if it has a problem,
will go in the hand of someone else
and that someone else will be a dys, a geneticist
and telling them the baby is a funny looking kid
is probably insufficient.
You may want to speak the same language as they speak.
So let's go over some definition.

Rhizomelia, Mesomelia, and Acromelia

If the root of the arm
or the leg is too short, we talk about RSO media.
R means root in Greek
and there is a series of condition associated rice radio
such as the dysplasia, agenesis, dystrophy, dysplasia,
and of course the proximal femoral deficiency syndrome.
If instead of the root, we have the male portion
of the arm that is effect.
We talk about mis edia meso meaning middle portion in Greek
and the covers stem association
and meso dysplasia are two example of mis edia.
Finally, if the distal portion
of the limb has a problem, the hand of the foot,
then we talk about AIA and conductor.
Dermal dysplasia is one of those example.
Very often actually the baby will have a shortening
of all three segments and then we talk about microdia
and there is a list of condition
that are associated with microdia.
Now, macromedia doesn't mean that the limbs are absent,
they just mean that it's short.
And for instance here, this is a 23 week fetus whose
humorous is about 17 weeks now six weeks
of difference at 23 weeks.
That is a very significant difference.
So don't expect the rooms to be absent,
this is just shortened.
They would probably look rather normal when you look them
them without measuring them,
but once you start measuring, you see that they fit way
below in the table.
And the nomograms,

Hip Dislocation

a hip dislocation is another thing we can see when we look
at the limbs and the hip dislocation pre are always
posteriorly hip dislocation.
I don't want to say that this is a good screening tool.
The postnatal screening is a lot better than the pral
screen, but from time
to time you may look at hip dislocation also,
I've looked at here at the pelvis seen from a head to bottom approach
and I've made the echoing transplant.
So you can see the position of the hips at this level.
Now, if you trace a line
between the femoral head this level, that line is going
to go either through the bladder or in front of the sacrum.
So if you have post hip dislocation, expect
that this line is going to go behind the bladder
or is going to go through the sacrum.
And this is what you see over here.
This is the femoral head, this is the bladder,
and this is the second femoral head.
And you see that this line is way past the bladder in this fetus
and there's a great number of conditions that are associated
with hip dislocation And let's go now
into some limb anomalies.

Limb Anomalies: Ectromelia, Phocomelia, Amelia, Hemimelia

And often it is difficult to be precise in
what the anomaly is.
So instead of saying something is wrong,
you can say the baby has ECT media.
ECT media is a very vague term that says
that there's a congenital hypoplasia
or hyperplasia of one or more limb.
So this is as broad a term as you can possibly describe.
So this fetus here, for instance,
with all these different malformation would have raia
mirror meia means that there's a partial absence of a free
excluding the pelvic girdle.
For instance, this little girl here
has normal shoulder blade.
You can see the s the elbow.
But look at the on in radius there is a distal
transverse amputation.
This is not a am mitic band syndrome.
This is a different type of condition
and she has a net spontaneous amputation.
At this level, Folia is a
more severe condition in which there is a development
of the limbs such as that the hand
or the feet appears to be attached
to the body just like the flipper of a seal
that is focal in Greek.
And the worst form of that is Amelia,
in which the baby has neither arms nor legs.
This is a baby that has tetra Amelia
and you see the absence of arms
and legs, something that is rather easy to recognize
but actually have reviewed lawsuit in which
the finding had been missed.
A hemi melia means that there's a partial absence of part
of an extremity.
For instance, here we're missing the universe,
but one of the most common form
of he meia is the inter calorie hemophilia.
In inter caloria, what is absent is one of a pair of bone.
Remember that all the limbs, this was part of all the evolution theory
and it's one of the finding of Darwin was
that all the limbs are made of one bone, two bone, a bunch
of little bones and then digits.
Well, this is the absent of the second bone
of the series.
So here we are missing, for instance the radius of the,
and one of the form of
that is the radial radio pleasure in which the radius
and the thumb are missing.
And that always leads to a club hand.
So if you find a club hand look for the radius,
it probably is going to be missing.
And this is the radial ray pleasure, one of the form
of inter emia.
You can also have both and band bone,
and this is a division that is probably a bit species
because there's a great deal of overlap
between the appearance of the two.
But sometime you will clearly see a bold bone
and that remember is associated
with the boomerang dysplasia, the camin dysplasia,
dystrophy, dysplasia,
and several others where an angled bone is more likely
to represent o osteo in perfecta or the Caity dysplasia.

Hand and Foot Anatomy and Polydactyly

Let's go to hand and foot anatomy.
And here there are multiple tables.
I'm going to skip because we don't have much time
and all this is in the literature.
I just want to make you aware that those distinction exists
so that you to be more precise when you have
a case in your practice.
Ally is the presence of an extra finger
or an extra toe
as you can see extra finger about three times less common
than extra toes,
but sometimes they both associate together this baby here
as a extra finger here
and an extra toe over there in both feet.
They rarely lack on the image
that have drawn here, you'll see that is very uncommon.
Much more commonly it will be just a little nub of finger.
There are alsos of recurrence risk
and you can have a autism or dominant form.
You can have multiple forms of transmission
and it may vary from an entire drug digit,
which is very rare to a rudimentary skin tag,
which is much more common.
And then that skin tag and also may not be
quite clearly a finger.
For instance here, if you look at this thumb,
it's this wrist.
It is not clear that this is an extra finger.
You have to scan carefully at this level
and this is this same baby.
Now pod have been divided roughly in two types.
If you draw the axis of the limb alongside the a,
the limb here, the pre preact,
actual polydactyly are polydactyly on the side of the thumb
or on the side of the big toe while the post a
pity are on the side of the fifth digit or the little toe.
So that allows to recognize different entities.
For instance, here we would have a pre-ACT actual poly
of the thumb, while this would represent a post a ectomy
of the fifth digit.
Now pre-ACT actual poly is less common
than the post actual poly.
And the example that I was showing you up to now were all,
post actual poly.
The pre-ACT actual rate are similar
for both African American and Caucasian,
but the post actual poly is 10 time more common in African
American than in Caucasian.
And so quite often you will have a mom
that asks you whether the baby
that she's carrying has an extra finger
and all of a sudden she didn't pay attention very well.
You go back to look at their answer and say, oh yes it does.
And the previous child already had that.
Now this is the classification.
The type one is thpo
or pre actual poly type one.
This is three to four time more frequent Native American
than in Caucasian or African American.
And remember that Native American probably descent from
population that came from Asia and in particularly in India.
In India, the Hindu population has a great number of babies
that have pre poly type one the thumb poly.
And in Hindu religion, this is actually considered
to be a good sign and those baby, the thumb is preserved.
The type two is another one that is important.
Here we have a tri phal thumb.
This is what happens in halt ram syndrome.
In the type three we have poly of an index
and type four poly of poly sinally of the,
first finger
and syn of the third
and fourth finger, not a red common.
So let me show you here an example of poly.
You see the fingers here,
there is an extra finger on the side
and you'll see when the baby moves
that this little extra finger is barely
attached to the hand.
There it is. It looks like some little numb of skin
that is attached very weakly.
And usually what happens is when the baby is delivered,
the nurse on labor and delivery plays a little thread
and strangle the finger.
And by the time you come
and take picture, the baby has already lost
the extra digits.
So this is a common NAMI
that is very easily tolerated.
Here's a baby that has an extra toe,
another one that has an extra finger.
This is the elite Van Crile syndrome
with a post AAL ectomy.
This is a post axial pally type B, the ate post minimi.
This is by far the most common you see over here.
Here are other example of the type B, little extra digit.
And of course this is rather easy to see
with 3D than with 2D.
Here's ally of the thumb.
We have a duplicated thumb at this level,
The tri thumb here we have the lung finger
that looks like a regular digit.
This is the thumb that has been elongated
and this is part of halt Iran syndrome
and part of several other conditions here.

Syndactyly and Other Hand Anomalies

Another problem you can have is again, means a problem with no specification.
You can have he trively that has multiple forms
of transmission and here we see one of those hands.
This is a case in which you have the lobster clo deformity
with a hand being widely open if the
deformity extends into the metacarpals.
So the metatarsal. Then we talk about the split
hand split foot syndrome.
And there are several conditions that have been diagnosed per, this is an example that with a hand
that has almost a chameleon type of hand.
And this is several adults with the same type of disorder.
What is important in this baby is
to recognize whether the thumb can be opposed
to the rest of the fingers.
If the thumb can be opposed, then the hand is apprehensible
and the outcome is much better than if some surgery has
to be done to repair the comprehensibility of the hand.
A trident hand is a hand that has a gap between the third
and the forefinger, and
that is quite characteristic of a cholas.
And here you can see the gap
between the third and the forefinger.
Now many s can do that.
What is important is to make sure that this persisted during the whole exam
and is not just a very temporary finding.

A hitch hager thumb, this is a thumb
that is maintained at 90 degree to the hand,
an uncomfortable position that baby should not be able
to keep for more than a few seconds.
Brachy is another condition that has multiple variations.
These are short fingers and there are 173 syndromes.
Quite a few pral references prenatally.
One of the form of brachy oph phia that is important
is the chy phia of the fifth digit.
Here the phages is too small
because of that it's articular surface here is abnormal.
And that leads to clonally the position of the fifth dig fage.
The large pH that is abnormal
and is bent in that is quite typical of Trisomy 21.
So this is one of those that we look for prenatal.
Here we have an example of clin.
You can see that the fifth finger here is rotated
towards the forefinger.
Ectomy is another set of finger condition
with multiple conditions reported in OMI
and multiple al diagnosis.
And it also has quite a large classification that I'm going to escape.
One that I want to mention
however, is the mitten hand.
The mitten hand is a form of syn
in which all the fingers have been fused together.
And I thought for a long time that it was not possible
to recognize soft tissue or cutaneous syn
and only we could see the bony bony syn.
That's actually not true.
If you can see here, we have a section in which you see
that the skin is not indenting in between the finger.
The skin is passing over.
And remember that these are phages,
these are number metacarpal.
The metacarpals are not acidified in the phase.
So we know that these are fingers.
So I think the diagnosis of mitten hand is something
that we can do of course with 3D
but also this is the 3D version of it, but also with 2D.
And this of course is one of the acro
in dli Aper syndrome is a good example of ait hand,
a short fourth meta couple.
This is part of fraternity syndrome.
There's other condition that have that clamp.
Keli or Kle dli are two different condition.
In Kemula. The finger is bent along,
its no flexion axis.
And in Cline Ula it is bent in the radial curer.
So it tends to touch the adjacents finger.
And of course there are different sort diagnosis
for each of these condition.
CL is a bit more common than tactally.
This is an example of ketali.
You can see the finger here is bent.
The other finger here had been amputated,
but this is an artifact of 3D
pay attention on the fifth finger.
This is a common problem of doing 3D is you pay attention
to an area, get a good picture of that area
and then forget to look at the acquisition
of the rest of the image.
This is edactly
and you see the overlapping of the finger over here.
And another little fetus whose fifth finger is clearly
overlapping the forefinger.
And the brother of that child also had the same finding.
Only goodly means that a finger is missing.
And here we have one missing finger
and there's lots of condition.
Of course, Amelia band syndrome is one of them.
Akira is absence of a hand
and in this video clip you can see
that the left hand was clearly identified during the exam.
But as the sonographer looks into the heart
and into the right arm, you see the right arms end over here
and there's no hand at this arm.
There are two clench phase you really should know.
One is the trisomy 18 with overlapping of the third digit
by the second digit, and the fourth
digit by the third digit.
This is the 3D ultrasound rendering
and this is the third specimen.
This is extremely typical of Trisomy 18.
The other claims first is the one
of Triplo in which there is a cutaneous syn of the third
and fourth digits,

Foot Anomalies

a you foot anatomy.
And we'll finish on that.
You can either have a club or a dislocated foot.
The dislocated foot, of course, has a much worse prognosis.
You can have a vertical tails in ca canus,
which gives a rock bottom foot.
This is very typical of the trisomy 18,
A increased space between the first and the second two.
This is called a sandal gap.
And this is a marker
for Trisomy 21 Elevation.
The first to is also a marker for tri 21.
And then you see the sole of the foot,
but you don't see the big toe in the same plane.
You have to move the transducer in order to acquire it.
A short first toe is an anomaly associated with trisomy 18.
And then absence of the foot is another similar condition to the Akira
that we saw a few minutes ago.

Conclusion

I hope that I have given you, in this brief review some
of the important finding associated with this pleasure.
And I have rekindled your interest in making right
terminology and right diagnosis in this topic.
Thank you very much.