[Coexistence of Crouzon syndrome with ventricular septal defect].

The authors present the features of Crouzon syndrome and describe presently 17-year-old girl suffering from this syndrome coexisting with congenital heart malformation (ventricular septal defect, successfully surgically treated). We were not able to find any description of such congenital malformations coexistence in the accessible literature.

[Genetic determination of Wolf-Hirschhorn syndrome ].

Characteristic, clinical features, typical for Wolf-Hirschhorn syndrome (WHS) were presented in the article. It is caused by partial deletion of the short arm of chromosome 4. The authors paid special attention to cytogenetic and molecular diagnostics of WHS.

[Noonan syndrome coexisting with essential arterial hypertension in 8 year old boy].

In the paper some basic data concerning Noonan syndrome were reminded. Then the case of 8 year old boy suffering from above mentioned syndrome coexisting with essential arterial hypertension was described. Such coexistence has been probably reported for the first time.

[Genetic aspects of Marfan syndrome].

Pathological changes of skeleton, circulatory system and eye--typical for Marfan syndrome--were described in the article. Collagen abnormalities were discussed as well as contemporary knowledge concerning the inheritance of the syndrome. Special attention was paid to the gene FBN1 localized on chromosome 15 and its influence on fibrilline 1 synthesis.