RE: Bleph & ptosis associated with FAS

[Guest guest]

Hi Aprile

I don't have any information to pass on to you, but I thought that it might

be an idea to mention that, from what I have read, congenital BPES is not

related to fetal alcohol syndrome. Also, I have discussed this with a

geneticist about a couple of years ago, who confirmed it.

I know that some members of this group have (or have children with) BPES.

Also, there are some members who have other syndromes which have one, or

some, of the same characteristics as BPES. For example, some members have

children with Ohdo Syndrome. Ohdo people have a few of the same

characteristics as BPES people.

It is important, I think, for people to not get confused here. If you doctor

or geneticist has definitely diagnosed BPES, then (again, from what I have

read) there is no relationship - at all - with FAS.

It must be quite a challenge for you to work out what is going on with

little Micah. I really hope that you are able to get some good information

from your doctor soon.

Take care

Shireen

> blepharophimosis Bleph & ptosis associated with FAS

>

> Hi Everyone,

>

> Our son, Micah, has suddenly stopped growing. Not just slow

> growth or short stature - stopped growing all together. No

> bone growth AT ALL in the last year.

> And he is not gaining weight, in fact he lost two pounds.

> All he does is eat all day long - so it is not a nutritional issue.

>

> We have been referred to Children's Hospital and are trying

> to find the cause for the lack of growth, also called

> " Failure to Thrive " in the medical community.

> (Such a misleading term as this child is happy and silly, and

> such a " thriving " and normal four year old boy. He just

> isn't growing. But I digress.)

>

> In my research, I came across a couple of articles that are

> listing ptosis and blepharophimosis as two of the MANY

> symptoms associated with fetal alcohol syndrome. (FAS) I

> had never heard this before and wanted to share the information.

>

> http://www.aoj.org/abstracts/41/41_132.html

>

> http://www.emedicine.com/ped/topic767.htm

>

> If anyone else has information about this could you please

> post and pass it on? And if anyone is headed to a geneticist

> soon can you ask about this? I tried to schedule us and the

> soonest they can get us in is August.

>

> Because Micah is adopted I have no idea what prenatal

> exposure he had. Birthmom did admit to drinking - but of

> course we have no way of knowing how much. Also, his genetic

> testing in Korea came back normal - which seems weird for

> BPES. So we are trying to piece this all together.

>

> Thanks!

> April Eisele, Colorado, USA

> Wife to Jon

> Mommy to Mira, Micah & Misha

>

>

>

>

>

> __________________________________________________

>

[Guest guest]

Hi Shireen,

I did not mean to imply that actual BPES was caused by

FAS. I was trying to find out if anyone else was

aware that ptosis or blepharophimosis (not in and of

themselves BPES) was listed as a possible symptom of

FAS. Did the geneticist you spoke with confirm those

two things could be a result (or one of them on it's

own) of FAS?

Because Micah's chromosome testing came back normal in

Korea - we don't know if the testing was incorrect and

he actually has BPES, or if the testing was correct

and he does not have BPES but something else with

similar characteristics. (Wouldn't BPES show on

chromosome testing?)

Thanks for your help,

April

--- Andy Bowles & Shireen Mohandes

<andy.bowles@...> wrote:

> Hi Aprile

> I don't have any information to pass on to you, but

> I thought that it might

> be an idea to mention that, from what I have read,

> congenital BPES is not

> related to fetal alcohol syndrome. Also, I have

> discussed this with a

> geneticist about a couple of years ago, who

> confirmed it.

>

> I know that some members of this group have (or have

> children with) BPES.

> Also, there are some members who have other

> syndromes which have one, or

> some, of the same characteristics as BPES. For

> example, some members have

> children with Ohdo Syndrome. Ohdo people have a few

> of the same

> characteristics as BPES people.

>

> It is important, I think, for people to not get

> confused here. If you doctor

> or geneticist has definitely diagnosed BPES, then

> (again, from what I have

> read) there is no relationship - at all - with FAS.

>

> It must be quite a challenge for you to work out

> what is going on with

> little Micah. I really hope that you are able to get

> some good information

> from your doctor soon.

>

> Take care

> Shireen

>

>

>

>

> > blepharophimosis Bleph & ptosis

> associated with FAS

> >

> > Hi Everyone,

> >

> > Our son, Micah, has suddenly stopped growing. Not

> just slow

> > growth or short stature - stopped growing all

> together. No

> > bone growth AT ALL in the last year.

> > And he is not gaining weight, in fact he lost two

> pounds.

> > All he does is eat all day long - so it is not a

> nutritional issue.

> >

> > We have been referred to Children's Hospital and

> are trying

> > to find the cause for the lack of growth, also

> called

> > " Failure to Thrive " in the medical community.

> > (Such a misleading term as this child is happy and

> silly, and

> > such a " thriving " and normal four year old boy.

> He just

> > isn't growing. But I digress.)

> >

> > In my research, I came across a couple of articles

> that are

> > listing ptosis and blepharophimosis as two of the

> MANY

> > symptoms associated with fetal alcohol syndrome.

> (FAS) I

> > had never heard this before and wanted to share

> the information.

> >

> > http://www.aoj.org/abstracts/41/41_132.html

> >

> > http://www.emedicine.com/ped/topic767.htm

> >

> > If anyone else has information about this could

> you please

> > post and pass it on? And if anyone is headed to a

> geneticist

> > soon can you ask about this? I tried to schedule

> us and the

> > soonest they can get us in is August.

> >

> > Because Micah is adopted I have no idea what

> prenatal

> > exposure he had. Birthmom did admit to drinking -

> but of

> > course we have no way of knowing how much. Also,

> his genetic

> > testing in Korea came back normal - which seems

> weird for

> > BPES. So we are trying to piece this all

> together.

> >

> > Thanks!

> > April Eisele, Colorado, USA

> > Wife to Jon

> > Mommy to Mira, Micah & Misha

> >

> >

> >

> >

> >

> > __________________________________________________

> >

[Guest guest]

Hi AprileLast time I was in Moorfields I asked the man who is responsible for running the BPES study this question:Is it easy for you to diagnose BPES Syndrome, just by looking at somebody?He answered "yes, it is very straight forward". (not a direct quote, but words to this effect)He did say that in some people it is so mild that that the appearance of the person may look almost "normal".I then asked "if somebody gave you some clear photos, could you diagnose just by looking at the photos?" he replied that it could be done. By this he means that it is possible to diagnose off photos. This does not mean that every single photo presented to a doctor (who is a specialist) would lead to a definite diagnosis.Slightly changing the subject ...This site has some information about the different types of Ptosis:http://www.emedicine.com/ent/topic97.htmRegarding your first question - I did not ask the specific question you raised.However, I had seen on TV a programme (it was a short 5 minute slot in a magazine style programme) about a child with FAS, who had either Blepharophimosis or Ptosis (cannot remember which), and had surgery to repair it. It was about 2 years ago, and if my memory serves me right, I remember talking about it with Clare Teale.The last time I spoke with anyone about the genetics testing, I was told that there are only 2 labs that can carry out the tests for BPES. I realise that things move on all the time, but I wonder if it might help for you to send Micah's test result to the lab in Belgium to find out if it is the same test?I hope that this information is of use to you. Are you able to rule out any of the other syndromes? (see below). Do let me know if I can help in any other way.

For those people who have not had a chance to look at this site: http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html

I have copied into this email a list of syndromes which Ptosis and/or Blepharophimosis are prominent features.Take careShireen

Table 2. Overview of Conditions in which Ptosis and/or Blepharophimosis are Prominent Features

Syndrome

Inheritance 1

Characteristics

OMIM

Hereditary congenital ptosis 1 (PTOS1)

AD

Ptosis

178300

Hereditary congenital ptosis 2 (PTOS2)

XL

Ptosis

300245

Ohdo blepharophimosis syndrome

AD 2

Blepharophimosis Blepharoptosis Mental retardation Congenital heart defects Hypoplastic teeth

249620

Michels syndrome

Blepharophimosis Blepharoptosis Epicanthus inversus Ophthalmic anterior segment defects (cornea) Cleft lip/palate Minor skeletal abnormalities

257920

Ptosis with external ophthalmoplegia

AR

Ptosis Ophthalmoplegia Miosis Decreased accommodation Strabismus Amblyopia

258400

Noonan syndrome

AD

Ptosis Short stature Heart defects Blood clotting deficiencies

163950

Marden- syndrome

AR

Ptosis Blepharophimosis Growth retardation Neurologic defects (mental retardation, absent primitive reflexes)

248700

Schwartz-Jampel syndrome

Intermittent ptosis Blepharophimosis Telecanthus Cataract Short stature Cartilage and skeletal anomalies Muscle hypertrophy

255800

Dubowitz syndrome

Ptosis Blepharophimosis Lateral telecanthus Short stature Mental retardation Immunologic deficiencies

223370

-Lemli-Opitz syndrome

Ptosis Epicanthus Cataract Growth and mental retardation Severe genitourinary, cardiac, and gastrointestinal anomalies

270400

Oley & Baraitser 1995 , OMIM1. AD=autosomal dominant; AR=autosomal recessive, XL=X-linked2. Presumed mode of inheritance

[Guest guest]

ptosis and small eye openings are symptoms of other conditions, I

recently saw a geneticist at Children's in DC and he also explained

to me that some people with BPES have a gene deletion, which will

include more " problems " than having a gene mutation which usually

consists of the eyelid issues and nothing else.

Genetic testing at this point, is about 80% for locating the

mutation. So it is possible they couldn't " find it "

>

> Hi Everyone,

>

> Our son, Micah, has suddenly stopped growing. Not

> just slow growth or short stature - stopped growing

> all together. No bone growth AT ALL in the last year.

> And he is not gaining weight, in fact he lost two

> pounds. All he does is eat all day long - so it is

> not a nutritional issue.

>

> We have been referred to Children's Hospital and are

> trying to find the cause for the lack of growth, also

> called " Failure to Thrive " in the medical community.

> (Such a misleading term as this child is happy and

> silly, and such a " thriving " and normal four year old

> boy. He just isn't growing. But I digress.)

>

> In my research, I came across a couple of articles

> that are listing ptosis and blepharophimosis as two of

> the MANY symptoms associated with fetal alcohol

> syndrome. (FAS) I had never heard this before and

> wanted to share the information.

>

> http://www.aoj.org/abstracts/41/41_132.html

>

> http://www.emedicine.com/ped/topic767.htm

>

> If anyone else has information about this could you

> please post and pass it on? And if anyone is headed

> to a geneticist soon can you ask about this? I tried

> to schedule us and the soonest they can get us in is

> August.

>

> Because Micah is adopted I have no idea what prenatal

> exposure he had. Birthmom did admit to drinking - but

> of course we have no way of knowing how much. Also,

> his genetic testing in Korea came back normal - which

> seems weird for BPES. So we are trying to piece this

> all together.

>

> Thanks!

> April Eisele, Colorado, USA

> Wife to Jon

> Mommy to Mira, Micah & Misha

>

>

>

>

>

> __________________________________________________

>

[Guest guest]

Hi April:

Just wanted to say that this has also been our experience. Our 20 month old son Rowan also had the chromosomal testing (in Belgium) and it came back negative. The second test, which examined the genes immediately "upstream" and "downstream" from the FOXL2 gene, didn't identify any problems. The latest series of testing will attempt to identify the link further "upstream" and "downstream" from the gene. They know there's a link to the FOXL2 gene - it's just sometimes very difficult to locate. It's my understanding that the diagnosis for BPES is almost always clinical - a visual examination of a patient.

Our genetics counselor also told us what Beth has mentioned - that when there's an obvious problem with the chromosome or a when there's a gene deletion or rearrangement people with BPES tend to have more developmental issues.

Hope this helps.

-------------- Original message -------------- From: "bethgordon03" <bethgordon03@...> ptosis and small eye openings are symptoms of other conditions, I recently saw a geneticist at Children's in DC and he also explained to me that some people with BPES have a gene deletion, which will include more "problems" than having a gene mutation which usually consists of the eyelid issues and nothing else. Genetic testing at this point, is about 80% for locating the mutation. So it is possible they couldn't "find it">> Hi Everyone,> > Our son, Micah, has suddenly stopped growing. Not> just slow growth or short stature - stopped growing> all together. No bone growth AT ALL in the last year.> An

d he is not gaining weight, in fact he lost two> pounds. All he does is eat all day long - so it is> not a nutritional issue. > > We have been referred to Children's Hospital and are> trying to find the cause for the lack of growth, also> called "Failure to Thrive" in the medical community. > (Such a misleading term as this child is happy and> silly, and such a "thriving" and normal four year old> boy. He just isn't growing. But I digress.) > > In my research, I came across a couple of articles> that are listing ptosis and blepharophimosis as two of> the MANY symptoms associated with fetal alcohol> syndrome. (FAS) I had never heard this before and> wanted to share the information.> > http://www.aoj.org/abstracts/41/41_132.html> > http://www.emedicine.com/ped/topic767.htm> > If anyone else has information about this could you> please post and pass it on? And if anyone is headed> to a geneticist soon can you ask about this? I tried> to schedule us and the soonest they can get us in is> August. > > Because Micah is adopted I have no idea what prenatal> exposure he had. Birthmom did admit to drinking - but> of course we have no way of knowing how much. Also,> his genetic testing in Korea came back normal - which> seems weird for BPES. So we are trying to piece this> all together.> > Thanks!> April Eisele, Colorado, USA> Wife to Jon> Mommy to Mira, Micah & Misha> > > > > > __________________________________________________>