LETHAL CONGENITAL CONTRACTURE SYNDROME - FURTHER DELINEATION AND GENETIC-ASPECTS

In a national morphology based study of lethal arthrogryposis between 1979 and 1992, 40 fetuses and infants with lethal congenital contractu re syndrome (LCCS, McKusick 253310) were found in Finland. The inciden ce of LCCS in Finland was 1:19000 births. There were 20 affected males and 20 affected females in 26 families. In 16 cases the pregnancy was terminated after the prenatal diagnosis of total akinesia and fetal h ydrops on ultrasound. There were 19 stillborn infants and five were bo rn showing signs of life, but died within one hour. The segregation an alyses yielded 0.45 affected by the ''singles'' method and 0.34 by the ''sib'' method. The birthplaces of the grandparents were located in t he sparsely populated north east of Finland. This finding supports the existence of an autosomal recessive LCCS gene in Finland, particularl y in the north eastern part.