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Background: Clefts of the lip and palate are one of the
most common congenital birth anomalies. Genetic factors play a great role in
the etiology of them and the high percentage of the consanguineous marriage of
the parents of the affected persons is one of the reasons. These defects not
only make abnormal changes on appearance of the neonate, but also make a lot of
stress and psychological problems for the patients and their families. Study on
the prevalence of clefts, their risk factors and also genetic counseling for
affected persons and their families can be a guideline for general population
and probably reduce these anomalies over the generations.
Methods: Patients referred to
the Department of Genetics, Imam Khomeini Hospital, Tehran, Iran were studied. A
total of 7374 pedigrees of all the
patients admitted to the Department, were studied during 2002-2005 and 99 pedigrees with the
patients with cleft lip± palate or isolated
cleft palate were separated. The total number of cases among these 99 pedigrees was 136. The effects of
consanguineous marriage, positive family history and sex were investigated
among cases.
Results: 70.8% of patients with
syndromic clefts and 58.7% of patients with nonsyndromic CL±P had parents with
consanguineous marriage. In addition 44.4% of patients with nonsyndromic CL±P
had positive family history.
Conclusion: In our population
prevalence of nonsyndromic CL±P was
estimated to be 7 in 1000 (with 95% Confidence Interval was
between 5 & 9) and prevalence of
nonsyndromic CP was about 3.1 in 1000 (with 95% Confidence Interval was
between 1.8
& 4.4).
Consanguineous marriage of parents seems to have a significant role (p=0.02) on prevalence of the
clefts.
