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 Table of Contents  
ORIGINAL ARTICLE
Year : 2019  |  Volume : 6  |  Issue : 1  |  Page : 51-55

Risk indicators for syndromic and nonsyndromic orofacial clefts in Southern Province of Saudi Arabia


1 Department of Preventive Dentistry, Faculty of Dentistry, Najran University, Najran, Saudi Arabia
2 Department of Oral and Maxillofacial Surgery and Diagnostic Sciences, Faculty of Dentistry, Najran University, Najran, Saudi Arabia
3 Department of Dental Affairs, Ministry of Health, Najran, Saudi Arabia

Date of Web Publication4-Feb-2019

Correspondence Address:
Dr. Bandar Alyami
Department of Preventive Dentistry, Faculty of Dentistry, Najran University, Post Box 1988, Najran
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jclpca.jclpca_31_18

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  Abstract 


Objective: This study was designed to find out risk indicators for the development of orofacial clefts (OFCs) in the Southern Province of Saudi Arabia. Materials and Methods: This was a retrospective study carried out in a maternity hospital from January 2013 to December 2016. Data including child sex, type and site of cleft, birth weight and birth month (season), parents' age at the time of their child's birth, paternal and maternal habits, parental consanguinity, and family history of OFCs were obtained. The data were processed and analyzed using SPSS software, Version 20. Results: Overall prevalence of OFCs in the study population was 0.65/1000 live births. There were 10 males, 5 females, and 1 ambiguous sexual orientation. Of the 16 OFC patients, 9 (56.25%) were classified as having syndromic OFCs (SOFCs) and 7 (43.75%) as having non-SOFCs (NSOFCs). Cleft lip and cleft lip/palate both had strong family history of OFCs. Similarly, the phenotype of OFCs and the presence of syndromic or NSOFCs did not show a relationship with paternal smoking habits during pregnancy. No relationship was reported between parental consanguinity with the presence of these factors. However, results showed that 13 (81.3%) out of 16 identified cases of OFC had background consanguinity. Conclusion: Prevalence of OFC in the current study was within reported range, consanguinity was observed in 81.3% of identified cases. Further research is paramount in the role of consanguinity in OFC in Arabian population.

Keywords: Cleft lip/palate, consanguinity, pregnancy, smoking habits


How to cite this article:
Alyami B, Ali-Hassan M, Al-Mahri M, Alyami F, Alharieth S. Risk indicators for syndromic and nonsyndromic orofacial clefts in Southern Province of Saudi Arabia. J Cleft Lip Palate Craniofac Anomal 2019;6:51-5

How to cite this URL:
Alyami B, Ali-Hassan M, Al-Mahri M, Alyami F, Alharieth S. Risk indicators for syndromic and nonsyndromic orofacial clefts in Southern Province of Saudi Arabia. J Cleft Lip Palate Craniofac Anomal [serial online] 2019 [cited 2019 Aug 26];6:51-5. Available from: http://www.jclpca.org/text.asp?2019/6/1/51/251470




  Introduction Top


Cleft lip and palate (CL/P) deformity is one of the most common congenital anomalies, second only to clubfoot in incidence.[1] Its existence has been documented in ancient medical literature among different races which include the Chinese, the Egyptians, the Incas, the Greeks, and the Romans.[2] A CL/P patient has been reported to have multisystem and complex anatomical, physiological, pathological, and psychosocial problems.[3]

Recently, several distinct genetic and environmental risk factors have been recognized for nonsyndromic orofacial clefts (NSOFCs) and syndromic OFCs (SOFCs) CL/P.[4] The etiology of OFC has been reported to be polygenetic and multifactorial.[5] Geographic, racial, family history, sex, alcohol, tobacco, poor nutrition, viral infections, drugs, and teratogens in the workplace have been identified as possible risk factors for OFCs. Recent studies have also shown that obesity during pregnancy can be related with CL/P.[6],[7] Maternal metabolic state and nutrition are related to OFCs; however, the genetic basis of this evidence is still underway.[7]

As an initial investigation, we carried out a hospital-based study to find out the risk indicators associated with CL/P among Saudi live births at the Maternity and Children Hospital in Southern Province of Saudi Arabia.


  Materials and Methods Top


This was a retrospective review of the medical records of mothers who delivered live babies in a maternity hospital from January 2013 to December 2016 in order to identify risk factors among Saudi live births. The Maternity and Children Hospital is the largest hospital of its kind in the Najran region, with 445 beds for various pediatric subspecialties serving approximately 246,880 members of the population.

Data including child sex, type and site of cleft, birth weight, and birth month (season) were obtained. In addition, data on parents' age at the time of their child's birth, paternal and maternal habits, parental consanguinity, and family history of OFCs were also retrieved.

To minimize the study design bias in this retrospective study, the data collector cross-referenced clinical notes with physical examination of all the patients with CL/P. Similarly, the study personnel were trained in order to minimize intraobserver variability during the study.

Statistical analyses

The data were processed and analyzed using SPSS software, Version 20 (Armonk, NY: IBM Corp). Descriptive statistics were generated as part of the data analysis and Chi-square and t-tests were used to compare the relationship among the different variables that were present. The level of significance was set at P ≤ 0.05.


  Results Top


Overall prevalence of OFCs in the study population was 0.65/1000 live births. There were 10 males, 5 females, and 1 ambiguous sexual orientation. Of the 16 OFC patients, 9 (56.25%) were classified as having SOFCs and 7 (43.75%) as having NSOFCs.

[Table 1] shows the relationship between family history and OFCs. Cleft lip and CL/P both had strong family history of OFCs; in patients with only cleft palate, we did not find a relationship with family history (P < 0.05). Similarly, the phenotype of OFCs and the presence of syndromic or NSOFCs did not show a relationship with paternal smoking habits during pregnancy (P > 0.05). Seasonal variations have no effect on the pattern of OFCs (P > 0.05). However, analysis showed that SOFCs tend to occur more during summer and winter than do NSOFCs. This was statistically significant (P < 0.05).
Table 1: Distribution of syndromic/nonsyndromic orofacial clefts by gender, season of birth, consanguinity, maternal age, paternal habits, and family history of orofacial clefts in Najran between January 2013 and December 2016

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Parental consanguinity by cleft phenotype type, sex, and syndromic/NSOFCs are as shown in [Table 1] and [Table 2]. No relationship was reported between parental consanguinity with the presence of these factors (P > 0.05). However, results showed that 13 (81.3%) out the 16 identified cases of OFCs had background consanguinity.
Table 2: Distribution of phenotype of orofacial cleft in nonsyndromic orofacial clefts by gender, laterality, season of birth, father's habits, family history of orofacial clefts in Najran between January 2013 and December 2016

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[Table 3] showed that children with SOFCs tend to have a lower birth weight than do those with NSOFCs. This was statistically significant (P < 0.05). Children with SOFCs tended to be born to older mothers than those who birthed children with NSOFCs. This was not statistically significant (P > 0.05).
Table 3: Results of t-test and descriptive statistics for mother and father age and birth weight of live births born with syndromic/nonsyndromic clefts in Najran

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  Discussions Top


Understanding the risk indicators associated with disease conditions will facilitate appropriate mobilization and deliverance of health-care facilities including workforce. This approach will facilitate specialized treatment at the precise time and will reduce the burden of this congenital defect.[8] Etiology of OFCs have been reported to be multifactorial worldwide.[9] The possible mechanism of the interaction between environmental and genetic factors have been suggested. In this suggestion, genetic factors create susceptibility for cleft; clefts then develop when environmental factors trigger the genetically susceptible phenotype.[10] Reports suggest that the proportion of environmental and genetic factors varies with the sex of the affected individual, the severity of the cleft, and the type of cleft (whether syndromic or nonsyndromic, cleft lip with or without palate or isolated cleft palate, and unilateral and bilateral cleft).[10] The duration and timing of the teratogens on the fetus also affect the severity of the anomaly.[9]

It has been reported that smoking is practiced by about a third of the worlds' population aged 15 years or older, including some 12% of women.[11] Studies have supported the hypothesis that maternal smoking increases the risk of OFCs.[11] However, studies reporting the effects of paternal smoking on OFCs is scarce. Although paternal smoking has been linked to congenital defects, none has been specifically linked to OFCs. Most studies have reported association of paternal smoking with spinal bifida and congenital heart defects.[12] Smoking among the male folks in Arabian communities is well known, unlike alcohol consumption because of religious inclination. There are no accurate statistics on the number of smokers in the Arab world, but the World Health Organization found in a survey that smoking is increasing in Middle Eastern countries and more importantly shisha smoking has become part of social customs in countries in the region.[13] Although our findings did not show any relationship with paternal smoking habits during pregnancy in our cohorts, further study of this aspect is important.

Several studies, including the present one, have reported an association between family history and CLP.[14],[15],[16],[17] These findings are expected since several authors have observed familial genetic effects on OFCs.[18],[19],[20] Our results provide preliminary evidence of the effect of family history on the pattern of OFCs. Intrafamily marriage is a well-known practice in the Arab world. Islamic and Arabian countries marry their first cousins, second cousins, double first cousins, or second cousins in various types of consanguinity. It has been reported that 60% of consanguineous marriages occur between first-degree cousins in these communities.[21],[22] Based on this cultural practice, it is expected that there should be a high prevalence of OFC among these countries.[23] On the contrary, several studies including present one have reported the low prevalence of OFC.[23] The authors opined that perhaps consanguinity might not be a strong factor in the etiology of OFCs. Further studies are necessary to unravel the genetic bases of this condition in the Arabian population.[23] Despite this low prevalence, it was observed from the study that 81.3% of identified cases of OFC had background consanguinity. Therefore, though prevalence may be low, the few cases identified are strongly associated with consanguinity. Further research is imperative in this regard. It has been suggested that offspring of consanguineous parents have greater genetic component in the etiology of CL.[24] In a population-based study in Denmark, there is an effect on recurrence in first-degree and third-degree marriages as compared to the general population.[25]

Impact of birth weight on OFCs was also addressed in the present study. Children with SOFCs tended to have a significantly lower birth weight than those with NSOFCs (P < 0.05). Low birth weight is not unexpected with severe malformations;[26] several previous reports have shown that children with CLP/CP had impaired weight-for-age and body mass index growth.[26],[27],[28]

In this study, there was no relationship between seasonal variations and the pattern of OFCs. However, SOFCs tend to occur more during summer and winter than do NSOFCs; this was found to be statistically significant (P < 0.05). Similarly, Edwards reported seasonal variation in the incidence of anencephaly, with a higher occurrence in winter births.[29] The effects of seasons on OFCs were attributed to diets deficient in vitamins as in arid seasons and exposure to several environmental factors such as intensive ultraviolet exposure and infections.[30],[31],[32],[33] In contrast, some authors reported no significant association between seasonal variations and the presence of OFCs.[26],[34],[35] These variations could also be attributed to chance correlation, which depends on a single set of data.[35]

Some limitations are noteworthy in this present study. The study was conducted in a small population; therefore, more participants are needed to generalize the results. Future work should include a nested case–control study to determine how the identified risk indicators can affect the pattern of OFC in Saudi Arabia.


  Conclusion Top


A preliminary evidence of the effect of family history on the pattern of OFCs was noticed. Prevalence of OFC in the current study was within reported range, consanguinity was observed in 81.3% of identified cases. Further research is paramount in the role of consanguinity in OFC in Arabian population. Children with SOFCs tended to have a lower birth weight than did those with NSOFCs. SOFCs tended to occur more during summer and winter than did NSOFCs.

Acknowledgment

The authors gratefully acknowledge all staff of the Maternity and Children Hospital, Najran, for generously permitting the retrieval of data from patients' records. In addition, the authors acknowledged the technical input of Dr. Ramat Braimah of the Department of Oral and Maxillofacial Surgery, Najran Specialty Dental Center, Kingdom of Saudi Arabia.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

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34.
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  [Table 1], [Table 2], [Table 3]



 

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