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Subject: DIAG (4 messages)
From: Robert Resta <bc928@scn.org>
Date: Mon, 30 Mar 1998 07:41:09 -0800

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 4 professional and 0 patient requests:

1) Unusual twins
2) FG syndrome resources
3) Diagnostic tests for malignant hyperthermia
4) Isolated anophthalmia


Carlo Gambacorti, MD, Editor,            Harker Rhodes, MD, Assistant Editor
                       Human Molecular Genetics Network
                       Diagnostics/Clinical Research Section

1) Unusual twins

Dear Colleagues,

We recently had the opportunity to find the following abnormalities in an
apparently monochorional diamniotic twin pregnancy of a 25 years old para II
gravida III woman with no familial history of disease or malformations or

Twin A: Sacral agenesis, sirenomelia ( single median femur, short tibia, absent
foot ) omphalocele, left amelia, left lung hypoplasia/ agenesis

Twin B: normal The pregnancy is now 19 weeks.

The family does not want to do karyotype. This constellation of symptoms
remind us of tetrammelia with pulmonary aplasia. Has anyone had experience
with such a case?

Annick Rothschild
Genetic clinic, Hadassah university hospital
Jerusalem 91120

e mail: annick@hadassah.org.il
fax 972-2-6777499
phone 972-2-6777491

2) FG syndrome resources

Detailed information about FG Syndrome is available at the FG Syndrome Homepage


Direct questions can be mailed to fgsyndrome@geocities.com

Also, requests for registration for the conference about FG Syndrome in Salt
Lake City, Utah in June of 1998 should be directed to the FG Syndrome Family
Alliance at the same address.

If you know of a child with FG Syndrome, please contact us as soon as possible,
as we are cooperating with Dr. John Opitz and Dr. Anita Rauch on the creation
of an international registry for the syndrome.  Detailed medical history forms
for this registry are available from our organization.

Thank you!

S. Gelser
FG Syndrome Family Alliance

3) Diagnostic tests for malignant hyperthermia

We have a medical student who was operated for breast fibroadenoma in
1994. After such a long time, she happens to read her operation registers
and she notice that she was was suspected to have malignant hyperthermia and
some laboratory analysis such as serum phosphokinases and potassium levels
should be performed to confirm the diagnosis. Since then, no laboratory
analysis has been done and no one remembers the situation exactly after
this time period. We want to learn if there are any diagnostic criteria
developed for malignant hyperthermia and if there is any laboratory
that performs these analyses.

Looking forward to hearing and thank you in advance.

Halil Gurhan Karabulut, MD
Ankara University School of Medicine
Department of Medical Biology
Sihhiye, 06100 Ankara-Turkey
Tel: +90 312 310 30 10 ext.327
Fax: +90 312 310 08 05

4) Isolated Anophthalmia
I am following a 10 mo white female with congenital bilateral anophthalmia.
She is growing and developing nicely.  No other abnormality has been
found.  We have checked structures of the heart, brain, and kidneys.  Her
endocrine system checks-out fine.  The chromosomes are 46,XX. This
condition is rare. I have not heard of any research on this condition.
The parents wonder if their situation is recessive.  They are willing to
send blood for DNA.

Is there any one interested in doing genetic
studies on this family?
Anthony Perszyk MD
Nemours Children's Clinic
Jacksonville, Florida USA

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