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Author Topic:   EDS- Like diseases
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 parameters were normal and intelligence Too.
Square nasal root
Hypoplastic nasal alae
Hypodontia ( canines )
Pulmunary stenosis
Tortuosity and elongation of aorta and carotid artery abnormalities
Aortic aneurysm
Increased superficial venous reticulum
[External features]
Inguinal hernia
Hypermobility of distal interphalangeal joints
Fragile skin
Absent-mild skin hyperextensibility
Karyotypes were normal.

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>


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