title: Diagnostic implications of associated defects in patients with typical orofacial clefts.
abstract: OBJECTIVE
  To describe prevalence of associated defects and clinical-genetic characteristics of patients with typical orofacial clefts seen at a reference genetic service.
  
  
  METHODS
  Descriptive study conducted between September of 2009 and July of 2014. Two experienced dysmorphologists personally collected and coded clinical data using a validated, standard multicenter protocol. Syndromic cases were defined by the presence of four or more minor defects, one or more major defects, or recognition of a specific syndrome. Fisher's exact and Kruskal-Wallis tests were used for statistics.
  
  
  RESULTS
  Among 141 subjects, associated defects were found in 133 (93%), and 84 (59.5%) were assigned as syndromic. Cleft palate was statistically associated with a greater number of minor defects (p<0.0012) and syndromic assignment (p<0.001). Syndromic group was associated with low birth weight (p<0.04) and less access to surgical treatment (p<0.002). There was no statistical difference between syndromic and non-syndromic groups regarding gender (p<0.55), maternal age of 35 years and above (p<0.50), alcohol (p<0.50) and tobacco consumption (p<0.11), consanguinity (p<0.59), recurrence (p<0.08), average number of pregnancies (p<0.32), and offspring (p<0.35).
  
  
  CONCLUSIONS
  There is a lack of information on syndromic clefts. The classification system for phenotype assignment adopted in this study has facilitated recognition of high prevalence of associated defects and syndromic cases. This system may be a useful strategy to gather homogeneous samples, to elect appropriate technologies for etiologic and genotype-phenotype approaches, and to assist with multiprofessional care and genetic counseling.
authors.affiliation: School of Medicine, Clinical Genetics Service, Hospital Universitário Prof. Alberto Antunes, Universidade Federal de Alagoas (UFAL), Maceió, AL, Brazil. Electronic address: isabella.monlleo@gmail.com.
authors.forename: Isabella L
authors.initials: IL
authors.lastname: Monlleó
authors.affiliation: School of Medicine, Universidade Federal de Alagoas (UFAL), Maceió, AL, Brazil.
authors.forename: Amanda G R de
authors.initials: AG
authors.lastname: Barros
authors.affiliation: Maternal-Child and Adolescent Health Department, Universidade Estadual de Ciências da Saúde de Alagoas (UNCISAL), Maceió, AL, Brazil.
authors.forename: Marshall I B
authors.initials: MI
authors.lastname: Fontes
authors.affiliation: School of Medicine, Universidade Federal de Alagoas (UFAL), Maceió, AL, Brazil.
authors.forename: Ana K M de
authors.initials: AK
authors.lastname: Andrade
authors.affiliation: School of Medicine, Universidade Federal de Alagoas (UFAL), Maceió, AL, Brazil.
authors.forename: Gisele de M
authors.initials: Gde M
authors.lastname: Brito
authors.affiliation: Laboratory of Human Cytogenetics (LCH), Universidade Estadual de Ciências da Saúde de Alagoas (UNCISAL), Maceió, AL, Brazil.
authors.forename: Diogo L L do
authors.initials: DL
authors.lastname: Nascimento
authors.affiliation: Department of Medical Genetics, Faculdade de Ciências Médicas (FCM), Universidade Estadual de Campinas (UNICAMP), Campinas, SP, Brazil.
authors.forename: Vera L
authors.initials: VL
authors.lastname: Gil-da-Silva-Lopes
mesh_terms: D000293:Adolescent; D000328:Adult; D001724:Birth Weight; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology; D002972:Cleft Palate / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000453:epidemiology; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008423:Maternal Age; D010641:Phenotype; D015995:Prevalence; D013577:Syndrome; D055815:Young Adult
keywords: Anomalias Congênitas; Cleft lip; Cleft palate; Congenital abnormalities; Fenda de lábio; Fenda de palato; Fenótipo; Phenotype