[Differences in the head and body structure among children with the ataxia-telangiectasia syndrome]

The ataxia-telangiectasia syndrome (AT, Louis-Bar syndrome) is one of the primary immunodeficiency disorders with genetically determined spontaneous chromosome instability. AT coexist with progressive cerebellar ataxia, sinopulmonary infections, skin disorders, including telangiectasia, radiosensitivity and tendency to recurrent respiratory infections and increased cancer risk. The aim of the study was the finding of the differences in the structure of the head and body between the group of males and the group of females, and to find differences between the group of children with AT and their healthy peers.

The study sample consists of 46 children with AT, including 20 girls and 26 boys. Measurements of 15 head features and 13 morphological features were taken with the current technique of anthropological measurement. The material was described in the form of arithmetic means and standard deviation score after the standardization and was compared in sex groups. In cases where there were no significantly statistical differences, the data were combined and compared with the biological system of reference which was the Dziecko poznańskie '90.

In all of the characteristics, both head and body features statistically significant differences between subjects with AT and standards were found. There were no statistically significant differences in most features (with the exception of five) among a group of males and females. Therefore, to the further analysis the two groups were combined.

Patients with Louis Bar syndrome were significantly smaller and slimmer than their peers. In five characteristics such as arm circumference, length of the upper limbs, nose height, lip length and lip height statistically significant differences between male and female group were found. Lip height was lower in a group of females. Other characteristics in a male group were lower than these in female one.