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Pseudoachondroplasia

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Hello all!!

Is there anyone out there who has pseudo? My daughter has been

diagnosed as a psuedo and I would like to chat with others who have

the same condition.

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A quick question for clarification: Are pseudos the dwarfs who are in 'correct

proportion' and just short, or are they the ones who have head and trunk of

'regular' size, and their arms and legs are short? (if I recall correctly from

that episode of CSI--sorry, I tried the web but i don't understand) Also, if you

were to sound out the word achrondroplasia how would it be pronounced?

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I can try to answer your second question:

Achondroplasia is pronounced kind of like: " A kon dro play-sha

You can hear the pronunciation here if you have speakers:

http://webster.com/dictionary/achondroplasia

a

>

> A quick question for clarification: Are pseudos the dwarfs who are

in 'correct proportion' and just short, or are they the ones who

have head and trunk of 'regular' size, and their arms and legs are

short? (if I recall correctly from that episode of CSI--sorry, I

tried the web but i don't understand) Also, if you were to sound out

the word achrondroplasia how would it be pronounced?

>

>

>

>

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Hi ,

Pseudos are short statured people that are correctly proportioned for their

height. My daughter is a pseudo and she looks perfectly " normal " except she is

short statured. Her head, torso, arms and legs are all in proportion with her

height. Hope this helps.

Khelkhet <khelkhet@...> wrote:

A quick question for clarification: Are pseudos the dwarfs who are in 'correct

proportion' and just short, or are they the ones who have head and trunk of

'regular' size, and their arms and legs are short? (if I recall correctly from

that episode of CSI--sorry, I tried the web but i don't understand)

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It does, perfectly. Thank you :> So if Pseudoachondroplasia is the dwarfism

where everythign's in proportion, then achondroplasia, is that the other version

where torso and head (I believe?) are of a regular size but limbs are short?

Re: Pseudoachondroplasia

Hi ,

Pseudos are short statured people that are correctly proportioned for their

height. My daughter is a pseudo and she looks perfectly " normal " except she is

short statured. Her head, torso, arms and legs are all in proportion with her

height. Hope this helps.

Khelkhet <khelkhet@...> wrote:

A quick question for clarification: Are pseudos the dwarfs who are in

'correct proportion' and just short, or are they the ones who have head and

trunk of 'regular' size, and their arms and legs are short? (if I recall

correctly from that episode of CSI--sorry, I tried the web but i don't

understand)

===

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Hi Lynn,

How old is your daughter? My ex-wife, stepdaughter and her baby boy are all

pseudos. Both my wife and daughter have average-looking torsos and heads,

but their arms and legs were not quite in proportion to their bodies. My

grandson looks fairly proportional, and you wouldn't immediately tell he's a

dwarf, except for his hands and feet. But according to my ex, all pseudoes

start out this way, and then as they grow, the disproportional aspect

becomes more apparent. Once, again, with many types of dwarfism, it varies

with individuals.

Bill

On 5/13/06, Lynn <lynnandmark03@...> wrote:

>

> Hi ,

>

> Pseudos are short statured people that are correctly proportioned for

> their height. My daughter is a pseudo and she looks perfectly " normal "

> except she is short statured. Her head, torso, arms and legs are all in

> proportion with her height. Hope this helps.

>

>

> Khelkhet <khelkhet@...> wrote:

> A quick question for clarification: Are pseudos the dwarfs who are in

> 'correct proportion' and just short, or are they the ones who have head and

> trunk of 'regular' size, and their arms and legs are short? (if I recall

> correctly from that episode of CSI--sorry, I tried the web but i don't

> understand)

>

>

>

>

>

>

> ===

>

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Guest guest

Believe me, as a fifty year young undiagnosed LP, I am VERY ignorant

in these matters still, and have hopes I may soon be able to find out WHICH

type of dwarfism I have. It just was never all that important to me,

because knowing WHICH type I am is NOT exactly going to change anything

anyway, right?!! LOL

RIGHT.

Still, it would be nice to know though someday.

At any rate, isn't there also a " hypoachondroplasia? " If so, what

exactly does this type mean?

And do " pseudoachondroplasia " LP's tend to still have many orthopaedic

surgeries, or less perhaps?

Thank you all for your patience!

~Adelaide

On 5/13/06, Lynn <lynnandmark03@...> wrote:

>

> Hi ,

>

> Pseudos are short statured people that are correctly proportioned for

> their height. My daughter is a pseudo and she looks perfectly " normal "

> except she is short statured. Her head, torso, arms and legs are all in

> proportion with her height. Hope this helps.

>

>

> Khelkhet <khelkhet@...> wrote:

> A quick question for clarification: Are pseudos the dwarfs who are in

> 'correct proportion' and just short, or are they the ones who have head and

> trunk of 'regular' size, and their arms and legs are short? (if I recall

> correctly from that episode of CSI--sorry, I tried the web but i don't

> understand)

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Pseudoachondroplasia

Pseudoachondroplasia is another form of short-limb

dwarfism. Often, the diagnosis is not made at birth

but when the child is 2-3 years of age. At first,

growth is normal. At 2-3 years of age, the diagnosis

is suspected because of a delay in walking or an

unusual, waddling gait is noted. As the growth rate

slows, the trunk appears long with lumbar lordosis and

rhizomelic shortening of the limbs. Final adult height

is 80-130cm. A height curve is available for

individuals with pseudoachondroplasia. It would be

helpful for a child's pediatrician to have a copy of

this height chart.

Individuals with pseudoachondroplasia have normal head

size and facial features. A characteristic waddling

gait is seen due to hip involvement. Legs are

malaligned with a variety of knee deformities noted,

including bow-legs (genu varum), knock-knees (genu

valgum), and windswept deformities (bow-leg on one

side and knock-knee on the other side). Joint

hypermobility is seen, especially at the wrists and

fingers; however, elbow extension is often limited.

Hands and feet are short. Osteoarthritis occurs in

early adulthood, especially in the weight-bearing

joints. The most important complications of

pseudoachondroplasia are orthopedic in nature.

Correction of the hip and knees are done in most

individuals.

Pseudoachondroplasia is inherited in an autosomal

dominant manner (see the genetics section for further

details). This means that a person with

pseudoachondroplasia and their average-sized partner

have a 50% or 1 in 2 chance of having children with

pseudoachondroplasia. Like many other autosomal

dominant conditions, children with

pseudoachondroplasia are often born to average-sized

parents. In these cases, pseudoachondroplasia is due

to a new mutation or genetic change. The gene for

pseudoachondroplasia has been discovered. It is called

cartilage oligomeric protein or COMP for short.

References

Horton, W.A., et.al. Growth Curves for Height for

Diastropic Dysplasia, Spondyloepiphyseal Dysplasia

Congenita, and Psuedoachondroplasia. Am J Dis Child;

136:316-319.

For more information, see Online Mendelian Inheritance

in Man (OMIM).

Return to Greenberg Center Clinical Summaries

Updated 1/25/97

__________________________________________________

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