[The Ehlers-Danlos and Marfan syndromes in young children].

Abstract

Early diagnosis of Ehlers-Danlos and Marfan syndromes in children is illustrated by personal case histories. EDS type IV was suspected in a 3 years old child on the basis of minor clinical signs with positive familial history. Detection of a collagen type III defect in cultured skin fibroblasts confirmed the diagnosis. Using a restriction site polymorphism associated with the structural gene for human type III collagen (COL3A1), tight linkage was found between the polymorphic allele and the clinical expression of the disease. The diagnosis of Marfan syndrome was suspected in a 12 years old girl and her 2 years old brother on the basis of major clinical signs and confirmed after measurement of body proportions and echographic examination. Further biochemical and molecular investigations were not informative. The new therapeutic perspectives in the two syndromes are briefly discussed.