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Topic: EDS- Like diseases

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posted 05-25-2000 03:29 PM

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

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