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.
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Eur Child Adolesc Psychiatry
December 2024
Department of Plastic Surgery, Evelina Hospital, St Thomas' Hospital, London, UK.
Individuals with orofacial clefts (OFCs) may be at an increased risk of developing autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). This systematic review provides a summary of the most recent data regarding the prevalence of ASD and ADHD in the OFC population and compares this to the general paediatric population. Multiple databases were searched including PubMed/Medline and Embase in July 2024, following the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines and was registered in PROSPERO (CRD42024565219).
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View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Department of Burns and Plastic Surgery, University Hospital Brno, Jihlavska 20, Brno, 62500, Czech Republic.
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View Article and Find Full Text PDFEur J Hum Genet
December 2024
Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Orofacial clefting (OFC) is a frequent congenital anomaly and can occur either in the context of underlying syndromes or in isolation (nonsyndromic). The two common OFC phenotypes are cleft lip with/without cleft palate (CL/P) and cleft palate only (CPO). In this study, we searched for penetrant CL/P genes, by evaluating de novo copy number variants (CNV) from an exome sequencing dataset of 50 nonsyndromic patient-parent trios.
View Article and Find Full Text PDFBMC Oral Health
December 2024
Fazaia Ruth Pfau Medical College, Karachi, Pakistan.
Background: Cleft lip and/or palate (CLP) is the most common orofacial congenital disability, presenting significant medical, psychological, and social challenges. In Pakistan, the incidence of CLP is high, estimated at one in 523 live births, but accurate data are lacking due to the absence of a birth registry. Early diagnosis and intervention are crucial for improving outcomes.
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