The Prevalence of Inherited Microcephaly in Autosomal Recessive Diseases Resulted from Consanguineous Marriage in Ahvaz, Iran

Background and Microcephaly is reduced head circumference more than two standard deviation below the mean for the age and sex. Genetic microcephaly disorder is divided into two categories; isolated and syndromic microcephaly. The incidence of autosomal recessive primary microcephaly in consanguineous population is more than that in non-consanguineous population. So far, few studies are conducted on the common genes in microcephaly in Iran. The present study, reveals the necessity to study, and implementing programs for genetical and clinical prenatal diagnosis.
In this study, the records of more than 1500 families participating in genetic counseling (2003-2014 in Ahvaz Welfare Organization) were used. Depending on the type of disease and drawn pedigree, the frequency of isolated microcephaly was calculated among autosomal recessive patients. Data was analyzed applying Chi-square test.
Microcephaly and isolated microcephaly were observed in 5.51% and 3.29% of autosomal recessive patients, respectively. The risk of isolated microcephaly in non-Arab ethnic was 3.56 times more than the risk in Arab ethnic. The risk of isolated microcephaly in double first cousin and first cousin offspring was 4.44 times more than the risk of it in the first cousin once removed and other consanguineous marriages offsprings.
Consultation for risk of isolated microcephaly is more necessary in non-Arab ethnic and in double first cousin and first cousin offspring.