home genetic news bioinformatics biotechnology literature journals ethics positions events sitemap


UBBFriend: Email This Page to Someone!
  HUM-MOLGEN
  DIAGnostics - Clinical Research (professional requests)
  EDS- Like diseases

Post New Topic  Post A Reply
profile | register | preferences | faq | search

next newest topic | next oldest topic
Author Topic:   EDS- Like diseases
Administrator
Administrator
posted 05-25-2000 03:29 PM     Click Here to See the Profile for Administrator     Edit/Delete Message Reply w/Quote
Description of research work:
We are searching the gene responsible of an EDS- Like diseases with autosomal recessive inheritance and variable expressivity, the diseases segregates in a large family in which several consanguineous mating occurred
in the last four generations.

The clinical phenotypes are:
GROWTH :
Growth parameters were normal and intelligence Too.
HEAD AND NECK :
[Face]
Square nasal root
Hypoplastic nasal alae
[Mouth]
Hypodontia ( canines )
CARDIOVASCULAR :
[Heart]
Pulmunary stenosis
[Vascular]
Tortuosity and elongation of aorta and carotid artery abnormalities
Aortic aneurysm
Increased superficial venous reticulum
ABDOMEN :
[External features]
Inguinal hernia
SKELETAL :
Hypermobility of distal interphalangeal joints
SKIN :
Fragile skin
Absent-mild skin hyperextensibility
LABORATORY :
Karyotypes were normal.


QUESTIONS:
1) Are there families with similar symptoms


Dott. Bertelli Matteo
Specializin in Genetics
Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology,
University of Brescia, Brescia, Italy
E-mail <bertelli@med.unibs.it>

IP: 160.45.191.21

All times are ET (US)

next newest topic | next oldest topic

Administrative Options: Close Topic | Archive/Move | Delete Topic
Post New Topic  Post A Reply
Hop to:

Contact Us | HUM-MOLGEN

Copyright by HUM-MOLGEN 1995-2015

Powered by: Ultimate Bulletin Board, Version 5.44a
© Infopop Corporation (formerly Madrona Park, Inc.), 1998 - 2000.

By posting requests at HUM-MOLGEN you reach more than 9.500 mailing list subscribers and a 6 digit number of www users. Therefore post high quality messages only, including full name and institutional address.