UDK: 616-053.3/.5:616-007.17 (045)

THE PHENE ANALYSIS OF CONNECTIVE TISSUE DYSPLASIA SYNDROME IN CHILDREN AND THEIR RELATIVES

E. V. Streltsova, A. S. Kalmykova

Ставропольская государственная медицинская академия

Abstract

60 families were examined: probands and relatives of I, II and III relation degrees. The family selection was carried out according to the proband (children at the age of 3—16) with the echocardiographic signs of mitral valve prolapse and/or anomalously located chorda. The results of examination of 360 people (61 — proband, 123 — relatives of the I relation degree, 172 — relatives of the II relation degree, 4 — relatives of the III relation degree) showed that the hereditary nature of connective tissue dysplasia with prevalence of so-called «maternal effect» was established in most c ases. The high occurence of external mesenchymal signs in children can be explained by the genetic material storage across the generations.

Keywords

connective tissue dysplasia syndrome, phenotype, children

Contacts

Калмыкова Ангелина Станиславовна — д. м. н., профессор, зав. кафедрой пропедевтики детских болезней и поликлинической педиатрии Ставропольской государственной медицинской академии, email: kangeline@mail.ru