Search

Blood plasma proteins and soluble proteins from brain lobus frontalis of patients with mongolism were studied using polyacrylamide gel disc electrophoresis. A decrease in content of albumins, proteins of Gc system, transferrine, fast posttransferrines and an increase in amount of immunoglobulin proteins as well as of alpha 2-macroglobulin were observed in the preparations of blood plasma proteins. These alterations were apparently determined by impairments in functions of protein-synthesizing systems. Content of four different protein fractions was altered as shown by brain proteinogramms.

The analysis of the literature and author's observations of the "EEC" syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) revealed that this is a disorder with an autosomal-dominant type of inheritance with an incomplete penetrance and varying expressivity. Both sexes are affected with the same frequency. The complete form of the syndrome was mentioned in 27 cases only; all other patients had incomplete forms. The combination of two out of 3 main features is enough for the diagnosis of this syndrome. The most common trait of the "EEC" syndrome is ectrodactyly (73/77), clefts of lip or palate were observed in 53 patients out of 77, the ectodermal dysplasia was mentioned in 44 cases. There is an increase of mutation frequency in older parents.