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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 6 messages  

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Subject: DIAG: 6 messages
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@anprisc.anapat.istitutotumori.mi.it>
Date: Sun, 15 Nov 1998 09:03:20 +0100
Posted-Date: Sun, 15 Nov 1998 09:03:20 +0100

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains  6 professional requests:

1) Ataxia Telangiectasia and Lowe Oculocerebrorenal Syndrome 
2) Bannayan-Zonana syndrome/ Cowden's disease
3) Beckwith Wiedemann syndrome
4) Dyserythropoietic anemia
5) Skeletal dysplasia
6) Infantile convulsions


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

1)       Ataxia Telangiectasia and Lowe Oculocerebrorenal Syndrome 

I am seraching for Labs performing molecular diagnosis on Ataxia
Telangiectasia and Lowe Oculocerebrorenal Syndrome.

This message is especially urgent for AT: the family, with one affected
and clinically diagnosed sib, is willing to have another child as soon
as possible.

Thanks in advance,

Eugènia Monrós
Secció Genètica
Hospital Sant Joan de Déu
Av. Sant Joan de Déu nº2
08950 Esplugues, Barcelona, Spain

E-mail: emonros@HSJDBCN.ORG
Tel: +34 93 2532100 ext 2275
Fax: +34 93 2803626


2)      Bannayan-Zonana syndrome/ Cowden's disease

We are looking for cell lines developed from intestinal hamartomas of
patients with Bannayan-Zonana syndrome (BJS; also known as
Ruvalcaba-Riley-Smith syndrome, Bannayan-Ruvalcaba syndrome, or
Ruvalcaba-Myhre-Smith syndrome),  or of patients with Cowden's disease, or
of patients with juvenile polyposis coli. If you have access to these cell
lines, please contact us.

Sincerely yours,

Stephen J. Meltzer, M.D.
Professor of Medicine
University of Maryland N3W62
22 S. Greene St.
Baltimore, MD 21201
FAX 410-328-6559
email: smeltzer@medicine.ab.umd.edu


3)      Beckwith Wiedemann syndrome

We are caring for a woman with presumed BWS (Beckwith Wiedemann syndrome).
She is now pregnant (24 weeks) and her fetus has a VSD. We will appreciate
assistance in molecular work up of this patient.

Moshe Frydman MD
genetics Institute
Ministry of Health
Chaim Sheba Medical Center
Tel Hashomer, 52621, Israel
Phone 972-3-5303952
Fax 972-3-5302914
e-mail: mfrydman@POST.TAU.AC.IL


4)      Dyserythropoietic anemia

I am writing from South Korea to get recommendations re: genetic counseling
about dyserythropoietic anemia.  I am a neonatologist and one of our
patient with congenital dyserythropoietic anemia  died with a month of age
due to infection last year.  Mother of this infant is trying to get
pregnant again and is seeking for a genetic counseling.  I would appreciate
very much if you could guide me through this.  The patient who died had
type II CDA.  

Thank you.

Ellen Kim, M.D.
Asan Medical Center
Seoul, Korea
Email: arkim@www.amc.seoul.kr


5)       Skeletal dysplasia

I would like some thoughts on the following baby:
Delivered at 36 weeks for footling breech.  Pregnancy complicated by
severe polyhydramnios; family history non-contributory, parents
non-consanguineous (Portuguese and English). The facial and general
appearance (severe club feet, overlapping fingers, flexed wrists,
abnormal palmar creases, cleft palate, severe micrognathia and
glossoptosis, flat face and flat nasal bridge, and squarish appearance of
the head) suggests campomelic dysplasia. However, on skeletal survey there
is no long bone bowing, scapulae are normal size and the is advancement of
the bone age (the distal femoral epiphysis is ossified).  12 pairs of ribs.
 I.e., there are none of the radiologic criteria of CD.  There is a severe
segmentation defect in the cervical region with kyphoscoliosis at that
level.  Abdominal U/S and 2dECHO still pending. Currently intubated for
upper a/w obstruction. On physical examination this babe looks just like
the examples of CD in Gorlin, Cohen and Levine.

What am I dealing with?Thank you all for your help.

Malgorzata J.M. Nowaczyk, MD, FRCPC, FCCMG
Assistant Professor, Pathology and Pediatrics
McMaster University, Hamilton, Canada

Marlene Huggins, MSc
Genetic Counsellor
Prenatal Diagnosis Programme
Hamilton Health Sciences Corporation
McMaster Campus, Rm 4D7
1200 Main Street West,
Hamilton, ON  L8N 3Z5
(905)521-2100, x5429
fax (905)521-4955


6)      Infantile convulsions

I have recently seen a family in which there are three generations with a
history of benign infantile convulsions.  The convulsions start at about
three months of age (NOT NEONATAL), and are both partial and generalized.
No underlying etiology has been found.  The seizures stop within one to two
months, and the mental development is subsequently normal.

Is anyone interested in samples from this family.  They expressed interest
in genetic testing, mostly to prevent a major work up for future children
who begin seizures.

Thank you for your help.
Lea Velsher MD

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