52 Results Found

Objective: To investigate the variation between the non-syndromic cleft lip and/or palate (NSCLP) and non-cleft (NC) subjects in relation to the lip morphology (LM) and nasolabial angle (NLA). Materials and Methods: Lateral cephalogram (Late. Ceph.)...

Non-syndromic cleft lip with or without palate (NSCL/P) is a prevalent birth defect that affects 1/500–1/1400 live births globally. The genetic basis of NSCL/P is intricate and involves both genetic and environmental factors. In the past few ye...

Missense, nonsense, splice site and regulatory region variants in interferon regulatory factor 6 (IRF6) have been shown to contribute to both syndromic and non-syndromic forms of cleft lip and/or palate (CL/P). We report the diagnostic evaluation of...

Background: Non-syndromic cleft lip/palate (NCL/P) is a prevalent congenital anomaly. Despite an unclear epidemiological link between orofacial clefts and dental caries, genetic studies suggest that polymorphisms in taste receptor genes may influence...

Background: A number of genes are associated with the incidence of non-syndromic cleft lip/palate (NSCL/P). Studies have shown a significant association between polymorphisms of ATP-binding cassette, sub-family A, member 4 (ABCA4) with the risk of NS...

Background: Non-syndromic cleft lip/palate (NSCL/P) has an etiology, including both genetic and environmental factors. Herein, we evaluated the association of rs13041247 and rs11696257 v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB) p...

Oral clefts are composed of cleft of the lip, cleft of the lip and palate, or cleft of the palate, and they are associated with a wide range of expression and severity. When cleft of the palate is associated with cleft of the lip with preservation of...

Background: Nonsyndromic cleft lip with or without palate (NSCL/P) is a multifactorial and common birth malformation caused by genetic and environmental factors, as well as by teratogens. Genome-wide association studies found genetic variations with...

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a complex disease with a strong genetic component. More than 40 loci have been identified to be associated with the risk of NSCL/P by genome-wide association studies (GWASs), but the ma...

Non-syndromic cleft lip with or without cleft palate (ns-CL/P) is one of the most common craniofacial anomalies with a multifactorial etiology. To investigate the contribution of rare variants to disease risk, we performed whole-exome sequencing (WES...

Orofacial clefts have been associated with specific cleft candidate genes which encode regulatory proteins required for orofacial region development. Cleft candidate genes encode proteins involved with the cleft morphopathogenesis process, but their...

Recent deep learning algorithms have further improved risk classification capabilities. However, an appropriate feature selection method is required to overcome dimensionality issues in population-based genetic studies. In this Korean case–cont...

Background: The present study aims to compare the accuracy of jaw repositioning in bimaxillary orthognathic surgery using digital surgical planning in cleft lip and palate patients and in non-syndromic skeletal class III patients in order to investig...

Background/Objectives: Non-syndromic cleft lip with or without palate (NSCL/P) is a common, multifactorial congenital anomaly. As genetic associations can be population-specific, this study aimed to investigate single-nucleotide polymorphisms (SNPs)...

Non-syndromic cleft lip with or without cleft palate (nsCL/P) ranks among the most common human congenital malformations, and has a multifactorial background in which both exogenous and genetic risk factors act in concert. The present report describe...

Craniofacial development including palatogenesis is a complex process which requires an orchestrated and spatiotemporal expression of various genes and factors for proper embryogenesis and organogenesis. One such group of genes essential for craniofa...

Background: Cleft lip and/or palate (CL/P) is a high-frequency congenital disease. Besides genetic background, maternal environmental factors may be involved in its incidence. We examined the effects of unbalanced diets and the intake of dietary supp...

Background: Orofacial clefts (OFCs) are common congenital disabilities that can occur as isolated non-syndromic events or as part of Mendelian syndromes. OFC risk factors vary due to differences in regional environmental exposures, genetic variants,...

Nonsyndromic cleft lip with or without cleft palate (NSCL ± P) is strongly associated with both environmental and genetic risk factors, but its genetic underpinnings remain partially known. While variants in interferon regulatory factor 6 (IRF...

Associations of CRISPLD2 (cysteine-rich secretory protein LCCL domain containing 2) and genes belonging to its activation pathway, including FOS (Fos proto-oncogene), CASP8 (caspase 8) and MMP2 (matrix metalloproteinase 2), with nonsyndromic orofacia...

Background: It was the aim of this study to investigate tooth agenesis patterns, which are expressed to different subphenotypes according to the TAC method in a spectrum of non-syndromic orofacial cleft patients. Methods: A total of 183 orofacial cle...

Introduction: Cleft lip and palate (CLP) are the most common congenital craniofacial deformities that can cause a variety of dental abnormalities in children. The purpose of this study was to predict the maxillary arch growth and to develop a neural...

Background/Objectives: Maternal exposures are known to influence the risk of isolated cleft lip with or without cleft palate (CL/P)—a common and highly heritable birth defect with a multifactorial etiology. Methods: To identify new risk loci, w...

Cleft lip and/or palate are prevalent congenital anomalies. Early and accurate diagnosis allows proper case management. The Objective: This retrospective cohort study aimed to investigate the association between cleft lip and palate and other congeni...

Background/Objectives: Primary cleft lip repair is a procedure to restore lip function and harmonious nasolabial appearance. However, the actual effects on nasolabial appearance have been insufficiently investigated. The aim of this study was therefo...

Background: Non-syndromic orofacial clefts (NSOFCs) are one of the common congenital malformations in Vietnam, with 1.4 per 1000 live births, with notable sex differences in occurrence. This case–control study aims to investigate potential sex-...

The Arhgap29 gene encodes Rho-GTPase-activating protein 29 (Arhgap29), which plays a crucial role in embryonic tissue development. Mutations in the Arhgap29 gene are significantly associated with non-syndromic cleft lip and palate (NSCL/P). Our study...

Background and Objectives: Cleft lip with or without cleft palate is one of the most common types of congenital malformations. Transcription factors paired box 7 and 9 (PAX7, PAX9) and receptor-like tyrosine kinase (RYK) have been previously associat...

This study aims to identify potential variants in the TP63–IRF6 pathway and GREM1 for the etiology of non-syndromic orofacial cleft (NSOFC) among the Vietnamese population. By collecting 527 case–parent trios and 527 control samples, we c...

Although cleft lip with or without cleft palate (CL/P) is one of the most common congenital anomalies worldwide, the morphopathogenesis of non-syndromic orofacial clefts is still unclear. Many candidate genes have been proposed to play a causal role;...

Orofacial clefting is considered one of the commonest birth defects worldwide. It presents as cleft lip only, isolated cleft palate or cleft lip and palate. The condition has a diverse genetic background influenced by gene–gene and gene–e...

Cleft lip and palate are common congenital pathologies that affect the human population worldwide. The formation of cleft lip is associated with multiple genes and their coded proteins, which regulate the development of craniofacial region, but the e...

Orofacial clefts are among the most common craniofacial anomalies with multifactorial etiologies, including genetics and environments. DNA methylation, one of the most acknowledged mechanisms of epigenetics, is involved in the development of orofacia...

Non-syndromic orofacial clefts encompass a range of morphological changes affecting the oral cavity and the craniofacial skeleton, of which the genetic and epigenetic etiologic factors remain largely unknown. The objective of this study is to explore...

Different surgical techniques are available to adequately correct the primary cleft lip deformity; however, when compared, none of these techniques have proven superior with regard to achieving optimal aesthetic results. Thus, the aim of this retrosp...

Dental arch relationships (DARs) and palatal morphology (PM) were evaluated in in non-syndromic complete unilateral cleft lip and palate (UCLP) Italian patients after surgery. Pre- and postnatal factors affecting the results were investigated. Sixty-...

Facial asymmetry is common in unilateral clefts. Since virtual surgical planning (VSP) is becoming more common and automated segmentation is utilized more often, the position and asymmetry of the orbits can affect the design outcome. The aim of this...

The aim of this cross-sectional study was to examine whether parents/caregivers’ perceptions of oral health-related quality of life (OHRQoL) differ from that of their cleft children, exploring the impact of demographic variables and cleft type on the...

Pathogenic variants in CDH1, encoding epithelial cadherin (E-cadherin), have been implicated in hereditary diffuse gastric cancer (HDGC), lobular breast cancer, and both syndromic and non-syndromic cleft lip/palate (CL/P). Despite the large number of...

Background/Objectives: Orofacial clefts (OFCs) are some of the most common congenital anomalies worldwide. The aim of this case–control study was to evaluate the association of OFCs with selected maternal characteristics. Methods: Data on isola...

Many complex molecular interactions are involved in the process of craniofacial development. Consequently, the network is sensitive to genetic mutations that may result in congenital malformations of varying severity. The most common birth anomalies...

Up to now, many various techniques have been proposed for the repair of complete unilateral cleft lip. The aim of this study was to compare late results of three different surgical techniques (C. Tennison, R. Millard, and J. Olekas) used for the repa...

The aim of present study was to check the possible association of potential parental environmental exposures and maternal supplementation intake with the risk of nonsyndromic orofacial clefting (NSOC). A retrospective study comprised 499 cases and 48...

Incidental findings (IFs) depicted in imaging tests during the diagnostic evaluation of patients with cleft lip and/or palate (CL/P) can guide clinicians during treatment planning procedures for effective, comprehensive cleft care. Evidence regarding...

Background: Split-hand/foot malformation (SHFM) is a rare congenital limb anomaly defined by the absence or hypoplasia of the central rays of the autopod. SHFM occurs as an isolated entity or part of genetic syndromes with several causative copy-numb...

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of common birth defects in China, with genetic and environmental components contributing to the etiology. Genome wide association studies (GWASs) have identified SPRY1 and SPRY2 to...

Background: This study reviews the surgical and functional outcomes of children diagnosed with a bilateral cleft lip and palate and treated by the same surgical team following specific surgical protocols 18 years after surgery and during the follow-u...

Background: Non-syndromic cleft lip with/without cleft palate (NSCL/P) is a common congenital condition with a complex aetiology reflecting multiple genetic and environmental factors. Single nucleotide polymorphisms (SNPs) in ABCA4 have been associat...

The aim of the study was to assess the risk of incidence of additional congenital dental anomalies in children with nonsyndromic cleft lip, alveolar and/without palate (CL/P). Hypodontia, hyperdontia and canines impaction was recognized. From patient...

Background/Objectives: Isolated cleft lips and/or palates often require orthognathic treatment. Traditional planning based on 2D images and plaster models limits precision; therefore, virtual surgical planning (VSP) and Computer-Aided Design and Comp...