Congenital craniofacial anomalies: The experience of a sub-Saharan African tertiary hospital.
Abstract
Background: Congenital craniofacial anomalies range from a simple notch to grotesque craniofacial morphology, which may not be compatible with life. There is dearth of literature on the clinical profile of congenital craniofacial anomalies as an entity in our practice setting in sub-Saharan Africa.
Methods: This study retrospectively analyzed the in-hospital clinical records of individuals with craniofacial anomalies during a five-year period in a foremost university teaching hospital in Nigeria. The information retrieved included the biodata of patients and their parents; the types of cranial-facial anomalies whether isolated or associated with other-system birth defects in each case, treatment received, and the final in-hospital disposition – whether dead or discharged home alive.
Results: There were 200 patients with 272 individual craniofacial anomalies constituting 17.4% of all congenital anomalies in our multidisciplinary birth defect study group database. The median age of presentation was 1.7 months; the craniofacial anomalies occurred in isolation in 77.0% of the cases, and craniofacial clefts were the commonest. The cardiovascular, central nervous and musculoskeletal systems were the most common associated with other-system anomalies. The hospital exit status was good in 96% of those with isolated anomalies compared to the 83% in those with concurrent multiple lesions. Surgical treatment was carried out in 56% of the patients with craniofacial anomalies during the study period.
Conclusion: Craniofacial congenital anomalies represented a substantial proportion of all congenital anomalies seen at our centre. Orofacial clefts were the commonest of these anomalies, majority occurring in isolation and significant proportions of these were amendable to surgical operative intervention.
Keywords: Craniofacial, congenital, anomalies, multidisciplinary, in-hospital profile, developing countries
Résumé
Contexte: Les anomalies craniofaciales congénitales vont d’une entaille simple à une morphologie craniofaciale grotesque, qui peut ne pas être compatible avec la vie. Il existe une pénurie de littérature sur le profil clinique des anomalies craniofaciales congénitales en tant qu’entité dans notre milieu de pratique en Afrique subsaharienne.
Méthodes: Cette étude a rétrospectivement analysé les dossiers cliniques hospitaliers de personnes atteintes d’anomalies craniofaciales pendant une période de cinq ans dans un important hôpital d’enseignement universitaire au Nigéria. Les informations recueillies comprenaient les données biographiques des patients et de leurs parents; les types d’anomalies cranio-faciales isolées ou associées à d’autres anomalies congénitales dans chaque cas, le traitement reçu et la disposition finale dans l’hôpital - qu’ils soient morts ou déchargés chez eux en vie.
Résultats: il y avait 200 patients avec 272 anomalies craniofaciales individuelles constituant 17,4% de toutes les anomalies congénitales dans notre base de données multidisciplinaire de groupe d’étude sur les anomalies de naissance. L’âge médian de présentation était de 1,7 mois; Les anomalies craniofaciales se sont produites isolément dans 77,0% des cas, et les fentes craniofaciales étaient les plus fréquentes. Les systèmes cardiovasculaires, nerveux central et musculo-squelette étaient les anomalies les plus fréquentes associées à d’autres systèmes. Le statut de sortie de l’hôpital était bon chez 96% de ceux atteints d’anomalies isolées comparativement à 83% chez ceux atteints de lésions multiples simultanées. Le traitement chirurgical a été effectué chez 56% des patients atteints d’anomalies craniofaciales pendant la période d’étude.
Conclusion: Les anomalies congénitales craniofaciales représentaient une proportion importante de toutes les anomalies congénitales observées dans notre centre. Les fissures orofaciales étaient les plus fréquentes de ces anomalies, la majorité s’étant isolée et des proportions importantes de celles-ci étaient modifiables pour l’intervention chirurgicale.
Mots-clés: Craniofacial, congénital, anomalies, multidisciplinaire, profil hospitalier, pays en voie de développement
Correspondence: Dr. A.O. Adeleye, Department of Surgery, College of Medicine, University of Ibadan, Ibadan, Nigeria. E-mail: femdoy@yahoo.com
References
Marentette L.J. Craniofacial surgery for congenital acquired deformities, http://famona.tripod.com/ent/cummings/cumm021.pdf
Global registry and database on craniofacial anomlies: report of a WHO registry meeting on craniofacial anomalies. Craniofacial anomalies and associated birth defects. Chapter 2 http://www.who.int/genomics/anomalies/en/CFA-RegistryMeeting-2001.pdf.
Aziza A, Kandasamy R and Shazia S. Pattern of craniofacial anomalies seen in a tertiary care hospital in Saudi Arabia. Ann Saudi Med. 2011;31 (5):488-493.
Tomatir A.G, Vural B. K, Acikbas I and Akdag B. Registries of cases with neural tube defects in Denizli, Turkey, 2004-2010. Genetics and Molecular Research 2014;13(4):8537-8543.
Manyama M, Rolian C, Gilyoma J, et al. An assessment of orofacial clefts in Tanzania. BMC Oral Health 2011;11:5. Available from URL: http://www.biomedcentral.com/1472-6831/11/5 [accessed 1 November 2012]
Kesande T, Muwazi L.M, Bataringaya A and Rwenyonyi C.M. Prevalence, pattern and perceptions of cleft lip and cleft palate among children born in two hospitals in Kisoro District, Uganda. BMC Oral Health 2014 14:104.
Marazita M.L. The Evolution of Human Genetic Studies of Cleft Lip and Palate. Annu Rev Genomics Hum Genet. 2012; 13: 263-283.
Aqrabawi H.E. Facial cleft and associated anomalies: incidence among infants at a Jordanian medical centre. Eastern Mediterranean Health Journal, 2008;14 (2):356-359.
Jagomagi T, Soots M and Saag M. Epidemiologic factors causing cleft lip and palate and their regularities of occurrence in Estonia. Stomatologija 2010; 12(4):105–108.
Butali A and Mossey A. Epidemiology of orofacial clefts in Africa: Methodological challenges in ascertainment. Pan African Medical Journal. 2009; Volume 2: Issue 5 http://www.panafrican-med-journal.com/content/article/2/5/full.
Bhandari S, Sayami J.T, KC R.R and Banjara M.R. Prevalence of congenital defects including selected neural tube defects in Nepal: results from a health survey. BMC Pediatr. 2015;15:133. Doi:10.1186/s12887-015-0453-1.
Copp A.J and Greene N. D. E. Neural tube defects – disorders of neurulation and related processes. Wiley Interdiscip Rev Dev Biol. 2013:2(2):213-227
Onankpa B.O and Adamu A. Pattern and outcome of gross congenital malformations at birth amongst newborns admitted to a tertiary hospital in northern Nigeria. Niger J Paed 2014;41(4):337-340.
Kouame B.D, N’guetta-Brou I.A, Kouame G.S, et al. Epidemiology of congenital abnormalities in West Africa: Results of a descriptive study in teaching hospitals in Abidjan: Cote d’Ivoire. Afr J Paediatr Surg 2015; 12:51-55.
Butali A, Little J, Chevrier C, et al. Folic acid supplementation use and the MTHFR C677T polymorphism in orofacial clefts aetiology: An individual participant data pooled-analysis. Birth Defects Res A ClinMolTeratol. 2013;97(8):509-514.
Dental, Oral and Craniofacial Data Resource Centre. Congenital Craniofacial Abnormalities. Section 9, Oral Health U.S., 2002. Bethesda, Maryland.
Shapira Y, Blum I, Haklai Z, et al. Prevalence of Non-Syndromic Orofacial Clefts among Jews and Arabs, by Type, Site, Gender and Geography: A Multi-Centre Study in Israel. IMAJ 2014; 16: 759-763.
Jugessur A, Shi M, Gjessing H.K, et al. Fetal genetic risk of isolated cleft lip only (CLO) versus isolated cleft lip and palate (CLP): A sub-phenotype analysis using two population-based studies of orofacial clefts in Scandinavia. Brith Defects Res A ClinMolTeratol. 2011 February; 91(2):85-92.
Lam I, Cunningham M, Birgfeld C, Speltz M and Shapiro L. Quantification of skull Deformity for Craniofacial Research. Conf Proc IEEE Eng Med Biol Soc. 2014;758-761.
Butali A, Adeyemo W.L, Mossey P.A, et al. The Nigeria CRAN collaboration. Prevalence of Orofacial Clefts in Nigeria. Cleft Palate Craniofac J. 2014;51(3):320-325.
Souza L.T, Kowalski T.W, Collares M.V.M and Felix T.M. MSX1 gene and non-syndromic oral clefts in a Southern Brazilian population. Braz J med Biol Res 2013;46(7):555-558.
Boyd S.A.B. Congenital craniofacial abnormalities .http://www.merckmanuals.com/ professional/pediatrics/congenital-craniofacial-and-musculoskeletal-abnormalities/congenital-craniofacial-abnormalities. Accessed on 16th December 2015 at 12:38 pm.
Adekeye EO and Lavery KM. Cleft lips and palates in Nigerian children and adults: a comparative study. Br J Oral Maxillofac Surg. 1985;23: 389-403.
Iregbulem LM. The incidence of cleft lip and palate in Nigeria. Cleft Palate J. 1982;19:201-205.
WHO/CDC/ICBDSR. Birth defects surveillance: a manual for programme managers. Geneva: World Health Organization; 2014.