Abstract

ABSTRACT:
BACKGROUND:
Genetic skeletal abnormalities are a heterogeneous group of genetic disorders frequently presenting with disproportionate short stature.
AIM OF THE STUDY:
To give an idea about the frequency of genetic skeletal abnormalities, and to find out whether these disorders are really increasing in the last 16 years or not.
METHODS:
During the period extending from (Jan, 1st 2003-April, 1st 2007), all cases of genetic skeletal disorders referred to the Genetic Counseling Clinic, Medical City – Baghdad who were born after 1991 were included in this study as the post-war group; the pre-war group, included all cases of skeletal disorders referred prior to 1991 (Jan., 1st 1987-Jan., 1st 1990). The demographic parameters, family history of the disease plus the parental consanguinity were studied.
RESULTS:
The post-war group constituted 3.199% while the pre-war group constituted 2.815%. Both groups had a comparative age range. AR disorders constituted 39.75% of the post-war group and 40% in the pre-war group; AD disorders come next in both groups (37.3% vs. 33.8%) respectively. There is a noticeable increase in the occurrence of new mutations of AD disorders in the post-war group.
CONCLUSION:
Genetic skeletal dysplaisas are not uncommon disorders; their incidence seems to be truly increasing