Objective
TO study the human skeletal dysplasias covering clinical and molecular aspects is a main goal of the concerted action on chondrodysplasias but an essential area awaits representation in the programme: The importance of chondrodysplasias as part of the group of congenital malformations and hereditary diseases which are on a leading place in perinatal morbidity, mortality and common human pathology.
In the Ukraine congenital and hereditary diseases are one of the main reasons of mortality and disablement. Among the most frequent are congenital heart defects and skeletal anomalies including chondrodysplasias.
Classification is still the major problem in view of more than 200 different (sub)types of chondrodysplasias and very few experts in this field. Cases may be grouped based on clinical signs, x-ray findings or anatomical records. This makes it difficult to find the correct diagnosis of the disease not only in the child, but especially prenatally for perspegtive cases.
Some of the goals of this proposal, complementing the concerted action, are: %l- to perform the monitoring for skeletal dysplasias and to investigate their structure and dynamic in one of the regions of the ukraine. this includes retrospective analysis of frequencies of chondrodysplasias to detect possible correlations between increased incidences and possible (environmental) factors. in addition, this means the design of prospective studies only possible in a centralized health care population monitoring system as established in some of the eastern European countries. - To claryfy previous and propose new criteria of ultrasound early diagnosis of various forms of chondrodysplasia in fetus. %l- to collect and provide tissue samples from prenatally diagnosed cases to have them analyzed in cooperation with the specialized laboratories of the other concerted action members.
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Programme(s)
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Coordinator
55131 Mainz
Germany
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