RE: Results of genetic tests

[Guest guest]

Annette,

This is crazy but I thougth I would throw it out there. Our daughter has three nipples.

I don't know what to say if it is related or not.

Pamp

[Guest guest]

Hi Annette

You may like to look ere:

http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html

This site is widely recognised as one of the best sites for people how have, or may have, BPES.

Regards

Shireen

From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of agarrett00@...Sent: 16 May 2006 16:11blepharophimosis Subject: blepharophimosis Results of genetic tests

Hi All!!

I got the doctor's notes from Josh's genetics eval and the results of his chromosome study - which were normal male, with no mention of Bleph. I have some questions regarding the doctor's assessment. He notes that Josh had: wide spaced nipples. Hmmm? what does that signify?

He also noted that he did not have any hyperpigmented lesions, normal ears, hands, feet and genetalia. I guess that rules some things out.

He described Josh as a normal appearing young man with Hypertelorism, small palpebral fissures, and ptosis. I know what Ptosis is, but what are the other two and what does that mean.

Anyone who can shed light on this, I would appreciate it. We don't go back for a follow-up until July.

--Annette in Tallahasseee Mom to Rourke, Kendrah & Sam (bio), Bladen (foster adoption), Jack (Guatemala adoption), O. (foster) and J. (foster).

[Guest guest]

I am pretty sure that hypertelorism means his eyes are far apart, and

small palpebral fissures means his eye openings are narrow.

I don't think BPES will show up unless you have testing done

specifically for it at one of the two labs in Europe.

Hope this helps somewhat.

>

> Hi All!!

> I got the doctor's notes from Josh's genetics eval and the results

of his chromosome study - which were normal male, with no mention of

Bleph. I have some questions regarding the doctor's assessment. He

notes that Josh had: wide spaced nipples. Hmmm? what does that

signify?

>

> He also noted that he did not have any hyperpigmented lesions,

normal ears, hands, feet and genetalia. I guess that rules some

things out.

>

> He described Josh as a normal appearing young man with

Hypertelorism, small palpebral fissures, and ptosis. I know what

Ptosis is, but what are the other two and what does that mean.

>

> Anyone who can shed light on this, I would appreciate it. We don't

go back for a follow-up until July.

>

> --

> Annette in Tallahasseee

> Mom to Rourke, Kendrah & Sam (bio), Bladen (foster adoption), Jack

(Guatemala adoption), O. (foster) and J. (foster).

>

[Guest guest]

Well that would make sense. Although i don't think his eyes are far apart, it just appears that way b/c the openings are so narrow.

--Annette in Tallahasseee Mom to Rourke, Kendrah & Sam (bio), Bladen (foster adoption), Jack (Guatemala adoption), O. (foster) and J. (foster).

-------------- Original message -------------- From: "bethgordon03" <bethgordon03@...> I am pretty sure that hypertelorism means his eyes are far apart, and small palpebral fissures means his eye openings are narrow. I don't think BPES will show up unless you have testing done specifically for it at one of the two labs in Europe. Hope this helps somewhat.>> Hi All!! > I got the doctor's notes from Josh's genetics eval and the results of his chromosome study - which were normal male, with no mention of Bleph. I have some questions regarding the doctor's assessment. He notes that Josh had: wide spaced nipples. Hmmm? what does that signify? > > He also noted that he did not have any hyperpigment

ed lesions, normal ears, hands, feet and genetalia. I guess that rules some things out.> > He described Josh as a normal appearing young man with Hypertelorism, small palpebral fissures, and ptosis. I know what Ptosis is, but what are the other two and what does that mean. > > Anyone who can shed light on this, I would appreciate it. We don't go back for a follow-up until July.> > --> Annette in Tallahasseee > Mom to Rourke, Kendrah & Sam (bio), Bladen (foster adoption), Jack (Guatemala adoption), O. (foster) and J. (foster).>

[Guest guest]

I think I've looked here before, but on this site and others, I haven't ever found a syndrome that exactly fits my Josh. He has BPES and he is unusually small, but seems normal intelligence. Normal developement so far (17 months old). No heart problems, No webbed fingers. Just a tiny little ball of energy.

--Annette in Tallahasseee Mom to Rourke, Kendrah & Sam (bio), Bladen (foster adoption), Jack (Guatemala adoption), O. (foster) and J. (foster).

-------------- Original message -------------- From: "Andy Bowles & Shireen Mohandes" <andy.bowles@...>

Hi Annette

You may like to look ere:

http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html

This site is widely recognised as one of the best sites for people how have, or may have, BPES.

Regards

Shireen

From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of agarrett00@...Sent: 16 May 2006 16:11blepharophimosis Subject: blepharophimosis Results of genetic tests

Hi All!!

I got the doctor's notes from Josh's genetics eval and the results of his chromosome study - which were normal male, with no mention of Bleph. I have some questions regarding the doctor's assessment. He notes that Josh had: wide spaced nipples. Hmmm? what does that signify?

He also noted that he did not have any hyperpigmented lesions, normal ears, hands, feet and genetalia. I guess that rules some things out.

He described Josh as a normal appearing young man with Hypertelorism, small palpebral fissures, and ptosis. I know what Ptosis is, but what are the other two and what does that mean.

Anyone who can shed light on this, I would appreciate it. We don't go back for a follow-up until July.

--Annette in Tallahasseee Mom to Rourke, Kendrah & Sam (bio), Bladen (foster adoption), Jack (Guatemala adoption), O. (foster) and J. (foster).

[Guest guest]

Annette - I too have searched and searched and can't

find something that " fits " my Micah. He is developing

normally - physically and mentally. I even had the

preschool do another evaluation to make sure it wasn't

just Mommy thinking he's really smart (LOL!) and they

said he is right on track with other kids his age.

But he is tiny - and currently no growth. Not sure

what to think. Thanks for sharing your results.

April

--- agarrett00@... wrote:

> I think I've looked here before, but on this site

> and others, I haven't ever found a syndrome that

> exactly fits my Josh. He has BPES and he is

> unusually small, but seems normal intelligence.

> Normal developement so far (17 months old). No

> heart problems, No webbed fingers. Just a tiny

> little ball of energy.

>

> --

> Annette in Tallahasseee

> Mom to Rourke, Kendrah & Sam (bio), Bladen (foster

> adoption), Jack (Guatemala adoption), O. (foster)

> and J. (foster).

>

> --------- blepharophimosis Results of genetic tests

>

>

>

> Hi All!!

> I got the doctor's notes from Josh's genetics eval

> and the results of his chromosome study - which were

> normal male, with no mention of Bleph. I have some

> questions regarding the doctor's assessment. He

> notes that Josh had: wide spaced nipples. Hmmm?

> what does that signify?

>

> He also noted that he did not have any

> hyperpigmented lesions, normal ears, hands, feet and

> genetalia. I guess that rules some things out.

>

> He described Josh as a normal appearing young man

> with Hypertelorism, small palpebral fissures, and

> ptosis. I know what Ptosis is, but what are the

> other two and what does that mean.

>

> Anyone who can shed light on this, I would

> appreciate it. We don't go back for a follow-up

> until July.

>

> --

> Annette in Tallahasseee

> Mom to Rourke, Kendrah & Sam (bio), Bladen (foster

> adoption), Jack (Guatemala adoption), O. (foster)

> and J. (foster).

>

>

>

[Guest guest]

Yes, I know what you mean. I don't completely understand it, butit

has to do with the structure of the nose bridge, I don't think my

eyes look far apart, either.

> >

> > Hi All!!

> > I got the doctor's notes from Josh's genetics eval and the

results

> of his chromosome study - which were normal male, with no mention

of

> Bleph. I have some questions regarding the doctor's assessment.

He

> notes that Josh had: wide spaced nipples. Hmmm? what does that

> signify?

> >

> > He also noted that he did not have any hyperpigmented lesions,

> normal ears, hands, feet and genetalia. I guess that rules some

> things out.

> >

> > He described Josh as a normal appearing young man with

> Hypertelorism, small palpebral fissures, and ptosis. I know what

> Ptosis is, but what are the other two and what does that mean.

> >

> > Anyone who can shed light on this, I would appreciate it. We

don't

> go back for a follow-up until July.

> >

> > --

> > Annette in Tallahasseee

> > Mom to Rourke, Kendrah & Sam (bio), Bladen (foster adoption),

Jack

> (Guatemala adoption), O. (foster) and J. (foster).

> >

>

>

>

>

>

>

>

[Guest guest]

Isn't it possible he has BPES without any developmental problems, and

just may be on the smaller side?

>

> > I think I've looked here before, but on this site

> > and others, I haven't ever found a syndrome that

> > exactly fits my Josh. He has BPES and he is

> > unusually small, but seems normal intelligence.

> > Normal developement so far (17 months old). No

> > heart problems, No webbed fingers. Just a tiny

> > little ball of energy.

> >

> > --

> > Annette in Tallahasseee

> > Mom to Rourke, Kendrah & Sam (bio), Bladen (foster

> > adoption), Jack (Guatemala adoption), O. (foster)

> > and J. (foster).

> >

> > --------- blepharophimosis Results of genetic tests

> >

> >

> >

> > Hi All!!

> > I got the doctor's notes from Josh's genetics eval

> > and the results of his chromosome study - which were

> > normal male, with no mention of Bleph. I have some

> > questions regarding the doctor's assessment. He

> > notes that Josh had: wide spaced nipples. Hmmm?

> > what does that signify?

> >

> > He also noted that he did not have any

> > hyperpigmented lesions, normal ears, hands, feet and

> > genetalia. I guess that rules some things out.

> >

> > He described Josh as a normal appearing young man

> > with Hypertelorism, small palpebral fissures, and

> > ptosis. I know what Ptosis is, but what are the

> > other two and what does that mean.

> >

> > Anyone who can shed light on this, I would

> > appreciate it. We don't go back for a follow-up

> > until July.

> >

> > --

> > Annette in Tallahasseee

> > Mom to Rourke, Kendrah & Sam (bio), Bladen (foster

> > adoption), Jack (Guatemala adoption), O. (foster)

> > and J. (foster).

> >

> >

> >

[Guest guest]

I hope that's all it is. But the doctors seem set

that something is " wrong " since there has been no bone

growth in a year now. They said slllllooooooowwwww

growth is one thing - no growth is a problem. I feed

him ALL day long - he's a GREAT eater. He's happy, on

track developmentally, he just stopped growing. I

keep praying he'll hit a growth spurt before we go to

Children's Hospital and I can say, " SEE - he's fine! "

LOL!

--- bethgordon03 <bethgordon03@...> wrote:

> Isn't it possible he has BPES without any

> developmental problems, and

> just may be on the smaller side?

>

>

>

> >

> > > I think I've looked here before, but on this

> site

> > > and others, I haven't ever found a syndrome that

> > > exactly fits my Josh. He has BPES and he is

> > > unusually small, but seems normal intelligence.

> > > Normal developement so far (17 months old). No

> > > heart problems, No webbed fingers. Just a tiny

> > > little ball of energy.

> > >

> > > --

> > > Annette in Tallahasseee

> > > Mom to Rourke, Kendrah & Sam (bio), Bladen

> (foster

> > > adoption), Jack (Guatemala adoption), O.

> (foster)

> > > and J. (foster).

> > >

> > > --------- blepharophimosis Results of genetic

> tests

> > >

> > >

> > >

> > > Hi All!!

> > > I got the doctor's notes from Josh's genetics

> eval

> > > and the results of his chromosome study - which

> were

> > > normal male, with no mention of Bleph. I have

> some

> > > questions regarding the doctor's assessment. He

> > > notes that Josh had: wide spaced nipples.

> Hmmm?

> > > what does that signify?

> > >

> > > He also noted that he did not have any

> > > hyperpigmented lesions, normal ears, hands, feet

> and

> > > genetalia. I guess that rules some things out.

> > >

> > > He described Josh as a normal appearing young

> man

> > > with Hypertelorism, small palpebral fissures,

> and

> > > ptosis. I know what Ptosis is, but what are the

> > > other two and what does that mean.

> > >

> > > Anyone who can shed light on this, I would

> > > appreciate it. We don't go back for a follow-up

> > > until July.

> > >

> > > --

> > > Annette in Tallahasseee

> > > Mom to Rourke, Kendrah & Sam (bio), Bladen

> (foster

> > > adoption), Jack (Guatemala adoption), O.

> (foster)

> > > and J. (foster).

> > >

> > >

> > >

[Guest guest]

April,

Have you had any endocrine studies done for growth hormone deficiency?

Annette

--Annette in Tallahasseee Mom to Rourke, Kendrah & Sam (bio), Bladen (foster adoption), Jack (Guatemala adoption), O. (foster) and J. (foster).

--------- blepharophimosis Results of genetic tests> > > > Hi All!! > I got the doctor's notes from Josh's genetics eval> and the results of his chromosome study - which were> normal male, with no mention of Bleph. I have some> questions regarding the doctor's assessment. He> notes that Josh had: wide spaced nipples. Hmmm? > what does that signify? > > He also noted that he did not have any> hyperpigmented lesions, normal ears, hands, feet and> genetalia. I guess that rules some things out.> > He described Josh as a normal appearin

g young man> with Hypertelorism, small palpebral fissures, and> ptosis. I know what Ptosis is, but what are the> other two and what does that mean. > > Anyone who can shed light on this, I would> appreciate it. We don't go back for a follow-up> until July.> > --> Annette in Tallahasseee > Mom to Rourke, Kendrah & Sam (bio), Bladen (foster> adoption), Jack (Guatemala adoption), O. (foster)> and J. (foster).> > >

[Guest guest]

Annette,

We are scheduled with a pediatric endocrinologist in

two weeks at Children's Hospital. We meet with GI

then as well.

April

--- agarrett00@... wrote:

> April,

> Have you had any endocrine studies done for growth

> hormone deficiency?

>

> Annette

>

> --

> Annette in Tallahasseee

> Mom to Rourke, Kendrah & Sam (bio), Bladen (foster

> adoption), Jack (Guatemala adoption), O. (foster)

> and J. (foster).

>

> --------- blepharophimosis Results of genetic

> tests

> >

> >

> >

> > Hi All!!

> > I got the doctor's notes from Josh's genetics eval

> > and the results of his chromosome study - which

> were

> > normal male, with no mention of Bleph. I have

> some

> > questions regarding the doctor's assessment. He

> > notes that Josh had: wide spaced nipples. Hmmm?

>

> > what does that signify?

> >

> > He also noted that he did not have any

> > hyperpigmented lesions, normal ears, hands, feet

> and

> > genetalia. I guess that rules some things out.

> >

> > He described Josh as a normal appearing young man

> > with Hypertelorism, small palpebral fissures, and

> > ptosis. I know what Ptosis is, but what are the

> > other two and what does that mean.

> >

> > Anyone who can shed light on this, I would

> > appreciate it. We don't go back for a follow-up

> > until July.

> >

> > --

> > Annette in Tallahasseee

> > Mom to Rourke, Kendrah & Sam (bio), Bladen (foster

> > adoption), Jack (Guatemala adoption), O. (foster)

> > and J. (foster).

> >

> >

> >