Clinical Aspects associated with Syndromic forms of Orofacial Clefts in a Colombian population

نویسندگان

  • Liliana Arias Urueña
  • Ignacio Briceño Balcazar
  • Julio Martinez Lozano
  • Andrew Collins
  • Daniel Alfredo Uricoechea Patiño
چکیده

OBJECTIVES To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nested-series of cases. METHODS A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period. RESULTS The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms. CONCLUSIONS These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Reduction in non syndromic oral clefts following mandatory flour fortification with folic acid in Northern Iran

  Background: Several studies have examined the effects of folic acid fortification on the occurrence of orofacial clefts. This study was carried out to evaluate the impact of flour fortification with folic acid on oral clefts in Northern Iran.   Methods : In this hospital based study from March 2006 to September 2009, we screened the total number of live births at all hospitals in Golestan pro...

متن کامل

The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub‐Saharan Africa

BACKGROUND Orofacial clefts are congenital malformations of the orofacial region, with a global incidence of one per 700 live births. Interferon Regulatory Factor 6 (IRF6) (OMIM:607199) gene has been associated with the etiology of both syndromic and nonsyndromic orofacial clefts. The aim of this study was to show evidence of potentially pathogenic variants in IRF6 in orofacial clefts cohorts f...

متن کامل

Syndromes and anomalies associated with cleft

Orofacial clefts are one of the commonest birth defects, and may be associated with other congenital anomalies. The majority of these orofacial clefts are nonsyndromic . A significant percentage of these clefts both syndromic and non-syndromic may have associated anomalies. Apart from reviewing other studies, this article also analyses a study of associated anomalies from a tertiary cleft centr...

متن کامل

Genetics and genomics etiology of nonsyndromic orofacial clefts

Orofacial clefts (OFC) are complex birth defects. Studies using contemporary genomic techniques, bioinformatics, and statistical analyses have led to appreciable advances in identifying the causes of syndromic forms of clefts. This commentary gives an overview of the important cleft gene discoveries found using various genomic methods and tools.

متن کامل

Diagnostic implications of associated defects in patients with typical orofacial clefts.

OBJECTIVES 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...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:

دوره 46  شماره 

صفحات  -

تاریخ انتشار 2015