Clinical issues in orofacial clefts in Ecuadorian children
Resumen
Background: Orofacial clefts are one of the most common human malformations worldwide and comprise cleft lip (CL), cleft palate (CP), and cleft lip with cleft palate (CLP) phenotypes.
Objective: To analyze the clinical features and genetics in Ecuadorian children patients with orofacial clefts.
Design: Observational, cross-sectional, cases series study.
Subjects and Setting: It analyzed 475 children patients of less of 5 years presenting orofacial clefts. The data arose of public hospitals from the 22 provinces around the country.
Interventions: It designed a survey to gather information from inpatient records of the hospitals. Data was collected during a six month period in 2010.
Results: Male cases were 64.8%, the ratio male:female was 1.84:1. Children of less of 1 year comprise the 21.7% (103/475) of cases and, 80.2% of the cases (381/475) were Mestizos. CL phenotypes were the most common orofacial cleft, alone in 42.7% (203/475) or in association with CP in 19.2% of cases (91/475). CP alone was 38.1% of cases (181/475). Unilateral CL was present in 38.4% of cases (78/203), the left side was the most affected in 64.1% (50/78); the ratio left to right side was 1.78:1. There was a correlation between orofacial clefts and multiple gestations above 4 gestations, low maternal age below 15 years, high paternal age above 45 years, intrauterine growth retardation, positive use of anticonvulsivants and frequent maternal alcohol consumption.
Conclusion: In Ecuadorian Mestizo children affected by orofacial clefts, unilateral, incomplete, CL of the left side was the most frequent finding followed by cleft hard palate with cleft soft palate. Further evaluation is needed to understand more widely the multifactorial etiology of this problem.
Descargas
Citas
2. IPDTOC Working Group IP. Prevalence at birth of cleft lip with or without cleft palate: data from the International Perinatal Database of Typical Oral Clefts (IPDTOC). Cleft Palate Craniofac J. 2011; 48: 66 – 81.
3. Cobourne MT. The complex genetics of cleft lip and palate. Eur J Orthod 2004;26:7–16
4. Bernheim N, Georges M, Malevez C, De Mey A, Mansbach A. Embryology and epidemiology of cleft lip and palate. B-ENT 2006; 2 Suppl 4: 11-19.
5. Shaw GM, Carmichael SL, Yang W, Harris JA, Lammer EJ. Congenital malformations in births with orofacial clefts among 3.6 million California births, 1983–1997. Am J Med Genet A 2004; 125: 250–56.
6. Coddington DA, Hisnanick JJ Midline congenital anomalies: the estimated occurrence among American Indian and Alaska Native infants. Clin Genet 1996; 50: 74-77.
7. Christensen K, Juel K, Herskind AM, Murray JC. Long term follow up study of survival associated with cleft lip and palate at birth. BMJ 2004; 328:1405.
8. Vanderas AP. Incidence of cleft lip, cleft palate, and cleft lip and palate among races: a review. Cleft Palate Craniofac J 1987; 24: 216–25.
9. Vieira AR, Karras JC, Orioli IM, Castilla EE, Murray JC. Genetic origins in a South American clefting population. Clin Genet 2002; 62: 458-63.
10. Montalvo G, Giron C, Camacho A, Martinez E, Toscano M, et al. Frecuencia de malformaciones congénitas en hospitales Ecuatorianos de la red ECLAMC. Período junio 2001-junio 2005. Revista Cambios 2005; 5 (9): 39 - 49.
11. Gonzalez-Andrade F, Lopez-Pulles R. Congenital malformations in Ecuadorian children: urgent need to create a National Registry of Birth Defects. Appl Clin Genet 2012; 3: 29–39. [Print 2010].
12. González-Andrade F, López-Pulles R. Ecuador: public health genomics. Public Health Genomics 2010; 13: 171-80.
13. Poletta FA, Castilla EE, Orioli IM, Lopez-Camelo JS. Regional analysis on the occurrence of oral clefts in South America. Am J Med Genet A 2007; 143: 3216-27.
14. Vieira AR, Cooper ME, Marazita ML, Castilla EE, Orioli IM. Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only. Braz J Med Biol Res 2008; 41: 689-93.
15. González-Andrade F, Sánchez D, González-Solórzano J, Gascón S, Martínez-Jarreta B. Sex-specific genetic admixture of Mestizos. Amerindian Kichwas and Blacks Afroamericans from Ecuador (South America). Human Biol 2007; 79: 51–77.
16. Romitti PA, Sun L, Honein MA, Reefhuis J, Correa A, Rasmussen SA. Maternal periconceptional alcohol consumption and risk of orofacial clefts. Am J Epidemiol 2007; 166: 775-85.
17. Little J, Cardy A, Munger RG. Tobacco smoking and oral clefts: a meta-analysis. Bull World Health Organ 2004; 82: 213-18.
18. Jentink J, Loane MA, Dolk H, Barisic I, Garne E, Morris JK, de Jong-van den Berg LT; EUROCAT Antiepileptic Study Working Group. Valproic acid monotherapy in pregnancy and major congenital malformations. N Engl J Med 2010; 362: 2185-93.
19. Yu W, Serrano M, San Miguel S, Bruno L, Svoboda K. Cleft lip and palate genetics and application in early embryological development. Indian J Plast Surg 2009; 42 (Suppl): S35-50.
20. OMIM, Online Mendelian Inheritance in Man, The McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 2010. Available at: http://www.ncbi.nlm. nih.gov/sites/entrez?db=omim
21. Jugessurl A, Farlie1 PG, Kilpatrick N. The genetics of isolated orofacial clefts: from genotypes to subphenotypes. Oral Diseases 2009; 15: 437–53.
22. Klotz CM, Wang X, Desensi RS, Grubs RE, Costello BJ, Marazita ML. Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate. Am J Med Genet A 2010; 152A: 2697-702.
23. Lie RT, Wilcox AJ, Skjaerven R. A population-based study of the risk of recurrence of birth defects. N Engl J Med 1994; 331: 1–4.
24. Sivertsen A, Wilcox AJ, Skjaerven R, Vindenes HA, Abyholm F, Harville E, et al. Familial risk of oral clefts by morphological type and severity: population
based cohort study of first degree relatives. BMJ 2008; 336: 432–34.
