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 Table of Contents  
ORIGINAL ARTICLE
Year : 2020  |  Volume : 7  |  Issue : 2  |  Page : 108-113

A retrospective study of the epidemiological characteristics of patients with orofacial clefts: Craniofacial anomalies unit of the University Hospital of Maracaibo


1 Dentistry Department, Division of Oral and Maxillofacial Surgery, Craniofacial and Cleft Surgery Unit, University Hospital of Maracaibo; Oral Surgery Post-Graduate Program, School of Dentistry, Research Institute, University of Zulia, Maracaibo, Venezuela
2 Epidemiology and Dental Practice Department, Research Institute, School of Dentistry, University of Zulia, Maracaibo, Venezuela

Date of Submission27-Sep-2019
Date of Acceptance29-May-2020
Date of Web Publication31-Jul-2020

Correspondence Address:
Dr. Manuel Alejandro Linares
Virrey Olaguer y Feliu 3350, Buenos Aires City, Colegiales, Buenos Aires, Argentina.

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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jclpca.jclpca_26_19

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  Abstract 


Aims: The aim of this study was to describe the epidemiological characteristics of patients with orofacial clefts attended at the Craniofacial and Cleft Surgery Unit of the University Hospital of Maracaibo. Settings and Design: This was a retrospective, epidemiological, cross-sectional study. Subjects and Methods: The sample was constituted by clinical histories of patients with orofacial clefts attended in the Craniofacial Surgery and Clefts Unit of the University Hospital of Maracaibo from September 2015 to March 2018. Demographic data of the patient, family history, anatomical structures involved in the cleft and syndromic association. were collected, and analyzed in accordance with the type of research and the objectives set, a descriptive analysis of each variable was performed, represented by absolute and relative frequency. Results: There were 137 patients with cleft lip and/or palate in the unit, with an average age of 5.3 ± 9.8 years, evidencing an almost equitable distribution in relation to gender. Of the facial clefts, the most common was cleft palate (CP), followed by cleft lip and palate. A low incidence of the presence of craniofacial anomalies was observed in the family history and the syndromic association. Conclusions: It was observed that the prevalence of cleft lip and CP has increased in recent years; these epidemiological figures vary by region, age, and gender. However, a greater knowledge on the part of health professionals is necessary to understand the clinical and epidemiological aspects of orofacial cleft and is crucial to improve the understanding of pathogenesis, promote preventive strategies, and guide multidisciplinary clinical care.

Keywords: Cleft lip and palate, cleft lip, cleft palate, epidemiology, orofacial cleft


How to cite this article:
Solano NE, Linares MA, López J, Fox M, Sarmientos L, Álvarez B. A retrospective study of the epidemiological characteristics of patients with orofacial clefts: Craniofacial anomalies unit of the University Hospital of Maracaibo. J Cleft Lip Palate Craniofac Anomal 2020;7:108-13

How to cite this URL:
Solano NE, Linares MA, López J, Fox M, Sarmientos L, Álvarez B. A retrospective study of the epidemiological characteristics of patients with orofacial clefts: Craniofacial anomalies unit of the University Hospital of Maracaibo. J Cleft Lip Palate Craniofac Anomal [serial online] 2020 [cited 2020 Aug 8];7:108-13. Available from: http://www.jclpca.org/text.asp?2020/7/2/108/291140




  Introduction Top


Cleft lip and palate (CLP) is the most frequent congenital craniofacial anomaly, comprising a variety of disorders that affect the face and oral cavity, causing defects in speech, hearing, appearance, and cognition and can lead to adverse results for health and social integration.[1] This anomaly can vary depending on the moment that the fault occurs during the craniofacial formation in the individual, presenting itself in an isolated form as cleft lip (CL), cleft palate (CP), or CLP.[2] CLP can present unilateral or bilateral, left side being the most frequent in the population with CL unilateral. In most of the cases, the patients with CLP tend to present with bilateral CL.[3]

Studies have reported a global incidence between 0.8 to 1.7 of cases per 1000 children born.[1] However, the International Perinatal Database of Typical Oral Clefts[4] presented a prevalence of 7.9:10,000 births for CL and CLP; likewise, a proportion of 6.6 patients with cleft palate was recorded for 10,000 cases born worldwide.[5] In this way, a higher rate of CL and CLP was observed in Latin America and Asia (China and Japan) and lower rates in Israel, Southern Africa, and Southern Europe. Higher CP rates are reported for Northern Europe and parts of Latin America and South Africa for the International Clearinghouse for Birth Defects Surveillance and Research.[6]

The prevalence of CL + CLP per 10,000 births in the Clearinghouse registry varied in Spain from 3.12 (0.312 / 1,000) to 20.97 (2.097/1,000) in Japan in the 5-year period 2005–2009.[7] In China, the highest prevalence was reported of oral clefts, with an incidence that varies from 1.2 to 30.7 / 10,000.[8] In Latin America, a prevalence of CL and CLP was reported in Mexico between 4.9 and 50.8 of births in 10,000 cases, being among the first congenital malformations in newborns,[2] whereas in Colombia, a prevalence of 11.8/10,000 live births was observed, presenting a rate of 1:850 births finding similar results in Australian studies and slightly higher than the African-American population.[9] These figures vary according to the geographical area and the socioeconomic level of the population. Venezuela is the country in Latin America that has reported the lowest figures of this pathology with a prevalence of 7.83/10,000 live births, according to the World Health Organization (2001), Mossey et al.,[10] and Hadadi et al.[11]

This condition is more frequent in the male gender; the ratio of affected males is always higher than females; thus, in isolated CL, it presents a predilection for the male gender 1.5:1, whereas CLP presents a ratio of 2:1.[12] However, CP presents a greater predilection for the female gender in a 2: 1 ratio.[2],[13]

Most patients with CLP show no other abnormalities “isolated CLP,” but a significant number (30%–50%) have other malformations and can be part of a syndrome “syndromic CLP.”[14] Nonsyndromic CLP is a group of malformations of multifactorial origin, in which genetic and environmental factors contribute to the etiology. Several studies have been conducted to expand knowledge of the etiology of isolated CLP. The knowledge of the etiological factors, the prevalence and variable expression of this phenotype, and its associated malformations can help in the clinical management and approach of the patient and contribute to a better understanding of its etiology and pathogenesis.[15],[16],[17]

The review of the literature made it possible to confirm that there are very few studies carried out in Venezuela, specifically in Zulia State, observing that the investigations that are available are not updated, and this could be due to poor record-keeping and a lack of data capturing. Being as a challenge for public health, due to the need for epidemiological data for the implementation of prevention programs aimed at determining the incidence and recognizing these conditions as well as to establish protocols for care at all health levels of these patients and family groups. Epidemiologic studies help with the description and planning of resources for better management of this problem. Based on this, the aim of this study was to describe the epidemiological characteristics of patients with orofacial clefts attended at the Craniofacial and Cleft Surgery Unit of the University Hospital of Maracaibo.


  Subjects and Methods Top


A descriptive, epidemiological, cross-sectional, and retrospective investigation was carried out. The sample consists of 137 clinical records belonging to patients with orofacial clefts treated at the Department of Craniofacial and Cleft Surgery of the University Hospital of Maracaibo between 2015 and 2018. As this was a hospital-based study, purposive sample collection was done. All the patients with CL/+P irrespective of the type who never have been treated were included in the study with the due consent of their parents. All patients who did not have a diagnosis of CL/+P and patients with sequela of CL/+P were excluded from the study.

This number of medical records is the total number of the population to be studied. The data were obtained from a secondary review and not directly from the patient and from the clinical histories and photographs of the patients; they were collated by the oral surgeons and the oral and maxillofacial surgeon manually through an evaluation instrument prepared for this study. Data from the medical history, such as age, biological sex, region of origin and residence of the patient, family history, anatomical structures involved by the cleft, and syndromic association (if presented) were included. The fissures were classified according to the morphological and embryological patterns established by Millard[18] for CL and Veau for palate.[19]

Once the data were collected, they were analyzed using the Statistical Package for the Social Sciences version 22.0 (SPSS Inc., Chicago, IL, USA). According to the type of research and the established objectives, a descriptive analysis of each variable was performed, represented by absolute and relative frequency tables.


  Results Top


During the period considered in this investigation, from September 2015 to March 2018, 137 patients with cleft lip and/or palate were treated in the Craniofacial and Cleft Surgery Unit of the University Hospital of Maracaibo. Thus, the average age of the patients was 5.3 ± 9.8 years, with the youngest being only 10 days old, while the oldest being 52 years old. 43.1% of the cases registered to the unit during its 1st year of life, 31.3% were patients with ages between 1 and 5 years, and only 5.9% were more than 20 years old, whom never have been treated. Regarding gender, a practically equal distribution was evident, and 69 patients (50.4%) were female and 68 (49.6%) male in a ratio of 1:1.01. When investigating the place of origin, 95.7% of the patients came from the state of Zulia, mainly from the municipalities Maracaibo (56.2%), Mara (12.4%), and Machiques de Perijá (6.6%), whereas 4.3% of the cases came from other states such as Falcón and Mérida [Table 1].
Table 1: Epidemiological characteristics of patients with Cleft Lips and Palate (CLP)

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In relation to the family history of CLP, these were negative in 92% of patients; nevertheless, in the 11 cases (8.0%) in which it was positive, the family line was not determined. However, when analyzing the clinical profile of patients with cleft lip and/or palate, in general, no significant differences were found in relation to the structures involved [Figure 1], although CP was only slightly more frequent (36, 5%), in contrast to CLP (32.1%), or only with a CL (31.4%). However, when discriminating by gender [Figure 2], some differences were evident; in women, CP was predominant (47.8%), whereas the frequency of involvement of the lip only or of both structures as a whole was similar (26.1%). On the other hand, in men, the most frequent was the involvement of both the lip and the palate (38.2%), followed by CL without involving the palate (36.8%).
Figure 1: Distribution of patients with lip and/or palate as the structures involved

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Figure 2: Distribution of patients with cleft lip and/or palate according to the structures involved and gender

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However, when investigating the type of cleft lip and/or palate, it was found that, in relation to the lip, the majority of patients presented unilateral labial cleft (79.5%), mainly incomplete (48.9%) [Figure 3], whereas the type of CP that prevailed was Type III (45.2%), followed by Type II (38.0%) [Figure 4], according to the CP classification proposed by Veau established by the American Association of Craniofacial Surgeons and Clefts.[19] On the other hand, majority of cases (89.8%) were not associated with any syndrome [Figure 5]. However, in the patients in whom there was a syndromic association (10.2%), the pathologies observed most frequently were Goldenhar and  Patau syndrome More Detailss [Table 2].
Figure 3: Distribution of patients according to the presentation form of cleft lip

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Figure 4: Distribution of patients with cleft palate, according to the Veau classification

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Figure 5: Distribution of patients with cleft lip and/or palate according to the presence/absence of syndromic association

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Table 2: Associated syndromes in patients with syndromic Cleft Lips and Palate (CLP)

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Finally, in relation to the treatments that had been submitted to patients with Cleft Lips and Palate (CLP) treated in the unit, the following was found: of the cases that required attention for labial cleft (88 patients), 18.2% used a nasoalveolar molder (NAM) before surgery and 44.3% used primary cheiloplasty without previous use of NAM, whereas of the patients with CP (93 cases), 31.4% underwent primary palatoplasty. Similarly, there were 23 cases (16.8%) of patients who had to undergo surgery for a sequela and 17 (12.4%) due to presenting a nasoalveolar fistula.


  Discussion Top


Cleft lip and palate is the craniofacial anomaly with great phenotypic spectrum, recognizing the epidemiological characteristics of these patients, provide better algorithm of decision in the multidisciplinary management of the pathology, implementing care protocols for the integral treatment of these anomalies adapted to the idiosyncrasy of the populations.

According to the epidemiological clinical data registered between 2015 and 2018 in the Craniofacial and Cleft Surgery Unit of the University Hospital of Maracaibo, 137 patients presented CLP (55.99%), comparing with the results exposed Barrios et al.,[17] where the epidemiological characteristics of 158 pediatric patients with CLP between 2006 and 2013 were studied at the Autonomous University Hospital of Los Andes (IAHULA), Mérida, Venezuela. Hernández et al.,[20] in the Center for Research and Care of Patients with Craniofacial Malformations and Maxillofacial Prostheses in Caracas, Venezuela, reported the prevalence of the anomaly corresponding to 91.64% (n = 392). However, the figures in this study may be higher compared to those presented in the country, due to the short period of data collection for the study.

However, other statistics of the region reported this congenital craniofacial pathology in 18 live births, in the Dr. Adolfo D'Empaire Hospital in Cabimas, Venezuela, during the years 1995–1999 representing 0.07% of the total births reported by Aizpurúa et al.[21]

The average age of the patients treated in the unit was 5.3 ± 9.8 years, where 43.1% of the cases entered the unit during their 1st year of life, 31.3% were patients aged between 1 and 5 years, and only 5.9% were more than 20 years old. It was demonstrated that the largest age distribution of patients with cleft was found in neonates, infants less and older up to 1-year. Statistical figures were similar to those observed in Jac-Okereke et al.,[22] where the age distribution of patients with orofacial cleft was 34.7% pediatric patients under 2 years, 31.8% patients under 18 years, and 16.4% adult patients over 19 years.

In relation to gender, an equitable distribution was found in a ratio of 1:1.01 per female gender (50.4%), with CP predominating as an associated cleft in the female population. These results are in agreement with other epidemiological studies, such as Hernández et al.[20] and Aizpurúa et al.[21] compared to Jac-Okereke et al.,[22] Garcia et al.,[23] Barrios et al.,[17] and Contreras et al.,[24] who reported a higher prevalence of orofacial clefts in the male gender.

Within the epidemiological characterization, a fundamental factor to take into account is the region of origin, the demographic and social characteristics of the individuals that make up the study population, which can have a great influence on the prevalence of this pathology. In this study, 95.7% of the affected population came from Zulia State, of which 39.5% came from rural areas (Mara and Machiques de Perijá), industrial areas, and oil exploitation (San Francisco, Cabimas, and Ciudad Ojeda) and 4.3% of other neighboring states (Falcón, Mérida, and Trujillo), coinciding with the data reported by Barrios et al.[17] and Aizpurúa et al.,[21],[25] where most of the patients in the study came from the region where it was performed.

Regarding the family history of CLP, these were negative in 92% of patients; nevertheless, 8% of the cases (n = 11) were positive, and the family line was not determined. Similarly, Barrios et al.,[17] Sacsaquispe and Ortiz,[26] and Puertas and Seijas[27] report a low index of patients with family history presenting the anomaly, coinciding with the results of the study. In addition, the syndromic association in patients was reported in 10.2%, where the pathologies observed most frequently were Goldenhar and Patau syndromes. Results were similar to those proposed by Vásquez and Gutierrez,[28] where 16% of the patients presented syndromic association; however, trisomy 21, Pierre-Robin sequence, and first and second branchial arch syndrome, also observed in the study results, were more frequently observed.

When analyzing the clinical profile of patients with CLP, in general, no significant differences were found in the prevalence of clefts considering the structures involved, with CP presenting with 36.5% more frequently, with slight predilection for the female gender and predominance of CP Type III in 45.2%, followed by Type II being 38.0%, coinciding with the results proposed by Moodley et al.,[29] Barrios et al.,[17] Contreras et al.,[24] and Vásquez and Gutierrez,[28] where the most prevalent cleavage was Type III. However, for Jac-Okereke et al.,[22] the most frequent cleft was CL.

Regarding the prevalence of CL, it was present in 31.4% of cases, with 79.5% of cases with unilateral CL and 48.9% incomplete. These results coincide with those presented by Moodley et al.,[29] Jac-Okerere et al.,[22] and Barrios et al.[17] where unilateral CL with the highest prevalence in the studies was evidenced, with predominance by the masculine gender, despite presenting higher figures within the statistics, contrasting with the results presented by Hernández et al.,[20] where the bilateral CL has a higher prevalence.

Regarding the treatment of CLP, 61.1% of the registered patients were surgically treated for the correction of the anomalies through the protocols used in the unit framed through the clinical-epidemiological study. Behar et al.[30] reported the comprehensive care of 99% of patients through a classification system for patients with CLP based on an epidemiological characterization.


  Conclusion Top


The prevalence of cleft lip and cleft palate has increased in recent years; However, these epidemiological figures vary according to the geographical region, the demographic and social characteristics of each population, even within the same country and locality. In this study, we have observed the cleft palate turned out to be the most common cleft within the study population, with the highest prevalence in the female gender. Followed by the unilateral lip cleft, with the male gender being the most affected. However, only in a low frequency of patients was the association of syndromic association and family history associated with the anomaly. However, Venezuela is a country with a diverse spectrum of ethnic groups, therefore, regional findings may vary depending on the surrounding population. Ideally, a national database is needed, which reflects the true distribution seen in the country.

Acknowledgment

We thank each of the patients treated, the “Cambiando Vidas” Foundation, and the Craniofacial Anomalies and Clefts Unit of the University Hospital of Maracaibo.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
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  [Full text]  


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