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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: Mon, 21 Dec 1998 17:00:27 +0100
Posted-Date: Mon, 21 Dec 1998 17:00:27 +0100

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains  6 professional requests:

1) "Moderate mental delay, deafness and branchial clefts"
2) 3C syndrome
3) LVOTO Defect
4) Rothmund-Thomson syndrome
5) Erythrophagocytic lymphohistiocytosis, familial
6) Infantile Convulsions


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

1)      "Moderate mental delay, deafness and branchial clefts"

I'm pediatritian working in a portuguese hospital. In my general pediatric
consultation we have a boy suffering from moderate mental delay, deafness
and branchial clefts. We think he can be considered  number 3133 in POSSUM
classification(Branchio-oto-renal) and we had found in his family similar
cases until 4th generation.

Is it possible to know if there are any genetic and molecular studies in
this particular situation?

Thank you very much for your help

Maria Cristina Morais


2)      3C syndrome

We have a patient who has tentatively been diagnosed with 3C syndrome, but
who displays some puzzling features which have not previously been
described.  We wondered if anyone has had any similar experience. The
patient is a boy now aged 5 years.  He was born at 35 weeks gestation with
the pregnancy being complicated by polyhydramnios.  His birth weight was
3300 gm.  He had a large head (38.5 cm).  He was hypotonic, with bilateral
clubfeet, a large cleft palate and a small omphalocele.  There was mild
penile chordee and hypospadias. There is a large perimembranous VSD with
mild pulmonary hypertension.  A gastrostomy was required because of feeding
difficulties.The childs head continued to grow, the lateral ventricles were
mildly increased in size.  A VP shunt was placed for suspected
hydrocephalus at age 4 months.  Securing and airway  during anesthetic
proved to be very difficult and precarious due to the small size of the
larynx and tracheomalacia. Currently the childs weight is above the 10th
percentile with the height below the 5th percentile. The childs head
circumference has risen from +2SD to + 4SD (59.5cm) .  There is no evidence
of hydrocephalus, but polymicrogyria is present.  There is also a
retrocerebellar subarachnoid cyst.  A recent opthalmic examination revealed
significant hyperopia and somewhat tortuous retinal vessels. The child
walks independently and has some speech delays. The following
investigations are normal:  chromosomes, peroxisomal function, CPK,  TORCH,
ISH for 1q44, 22q11.2 and 17 (Miller-Dieker) deletions, LFT, plasma
lactate, urine organic acids and skeletal survey. Initially Walker-Warburg
syndrome or Fukyama CMD were suggested, but the consensus opinion is 3C
syndrome. One concern at present is the increase in the growth of the
childs head with signs of increased intercranial pressure, which does not
appear to be a feature of 3C.  Does anyone have any experience that they
would like to share with us?
Associate professor Clinical Genetics
Department of Medical Genetics
University of Alberta
Edmonton, Alberta,T6G 2B7, Canada
Tel 403 492 4077 Fax 403 492 6845


3)      LVOTO Defects

We are seeking multiplex families or affected sibpairs with
Left Ventricular Outflow Tract Obstruction (LVOTO)Defects.
These are common congenital heart defects that include
coarctation of the aorta (CoA), aortic valve stenosis (AS),
hypoplastic left heart syndrome (HLHS), bicuspid aortic
valve (BAV), interrupted aortic arch type A (IAAA), and
mitral valve stenosis (MS). This protocol is IRB approved.

For more information contact:
John W. Belmont, M.D.,Ph.D.
Associate Professor
Dept. Molecular and Human Genetics
Baylor College of Medicine
Houston, TX 77030
fax 713.798.8704


4)      Rothmund-Thomson syndrome

We are carrying out studies to map the Rothmund-Thomson syndrome gene.
Some earlier work carried out on our patients have been published
(Miozzo et al.  Int J Cancer  1998.  77 : 504-510. )  We are keen to
know whether you have any families with this condition.


Dr. Alan Khoo
Division of Molecular Pathology
Institute for Medical Research
Jalan Pahang
50588 Kuala Lumpur, Malaysia

Fax: 60-3-2934114
E-mail:  alankhoo@imr.gov.my


5)       Erythrophagocytic lymphohistiocytosis, familial

I am caring for two siblings born to consanguineous parents with
erythrophagocytic lymhohistiocytosis.
Is there anyone interested to analyse this family further.
The clinical expression is rather mild.

Thank you for your help

Elisabeth Steichen, M.D.
Department of Pediatrics, University of Innsbruck
Anichstr. 35, A-6020 Innsbruck
FAX: 0043-512-3484
E-mail: Elisabeth.Steichen@uibk.ac.at.
A. Univ. Prof. Elisabeth Steichen
Department of Pediatrics
Anichstr. 35, A-6020 Innsbruck, Austria
Phone: 0043-512-504-3600
FAX: 00043-512-504-3484
E- mail: Elisabeth.Steichen@uibk.ac.at


6)              Infantile Convulsions

I am a clinical geneticist in Canada.  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, FRCPC

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