Tehran University Medical Journal

Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 !mso]> ject classid="clsid:38481807-CA0E-42D2-BF39-B33AF135CC4D" id=ieooui> Background: A high percentage of the patients at ENT or plastic surgery clinics have ENT abnormalities, either congenital or those developing later in life. Some are life threatening, while others cause disability and esthetic problems, with profound consequences for the affected child and the family. In addition, ENT abnormalities usually place stress on interpersonal relationships, causing social isolation, unhappiness and depression. The majority of these abnormalities is genetic and follows autosomal recessive pattern of inheritance. Geneticists believe that there is a higher frequency of autosomal recessive disorders among the offspring of consanguineous parents. The aim of this study was to find the frequency of ENT abnormalities among children born of consanguineous parents.
Methods: We studied 3503 files (pedigrees) of patients referred for genetic counseling at the Department of Genetics at Imam Khomeini Hospital, Tehran, Iran, from 1999 to 2000. We studied these cases according to degree of parental consanguinity, patterns of inheritance and gender using SPSS v.15.
Results: Of all 3503 files, 206 had ENT abnormalities, of which 157 had consangui-neous marriages. Among these 157 pedigrees, 496 cases had consanguineous parents. Out of the 496 cases, the four most frequent ENT abnormalities were: 115 cases (23.2%) of deafness, 53 cases (10.7%) of hearing loss, 12 cases (2.4%) of cleft lip and palate, and 5 cases (1%) of cleft palate.
Conclusion: This high frequency of ENT abnormalities indicates that consanguineous marriage should be discouraged by Iranian policy makers in order to reduce the burden of these disorders on society. Further research into the cultural problems that encourage consanguineous marriage and ways of resolving these problems is recommended. 

Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 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.