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Cleft Lip

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21. Non-syndromic Cleft Lip and Palate Polymorphisms Affect Normal Lip Morphology (PubMed)

Non-syndromic Cleft Lip and Palate Polymorphisms Affect Normal Lip Morphology Non-syndromic cleft lip with or without palate (NSCL/P) is a frequent malformation of the facial region. Genetic variants (SNPs) within nineteen loci have been previously associated with NSCL/P in GWAS studies of European individuals. These common variant SNPs may have subtler effects on the morphology of the lip and face in unaffected individuals. Several studies have investigated the genetic influences on facial (...) morphology using land-marking methods, but these landmarks are sparse in the lip region. The aim of this study is to assess for associations between the nineteen NSCL/P SNPs and normal lip phenotypes, using a detailed categorical scale. Three-dimensional laser scanned facial images were obtained of 4,747 subjects recruited from the Avon Longitudinal Study of Parents and Children (ALSPAC) and genetic data was available for 3,643 of them. A polygenetic risk score (PRS) combining the nineteen NSCL/P SNPs

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2018 Frontiers in genetics

22. The Skoog Lip Repair for Unilateral Cleft Lip Deformity: The Uppsala Experience. (PubMed)

The Skoog Lip Repair for Unilateral Cleft Lip Deformity: The Uppsala Experience. The Uppsala Craniofacial Center has been treating patients with unilateral cleft lip deformity using the lip repair technique described by Tord Skoog. The aim of this study was to determine complications after lip surgery and the incidence and indications for lip revisions in all patients born with unilateral cleft lip from 1960 to 2004.All patients who were born from 1960 to 2004 with unilateral cleft lip, cleft (...) lip and alveolus, or cleft lip and palate and underwent lip repair were studied retrospectively. The timing, indication, complications of the primary procedure, and type of secondary surgery were recorded. Kruskal-Wallis and Fisher's exact tests were used, with Bonferroni correction.The study included 443 patients. The total rate of early surgical complications was 6 percent (n = 26). Secondary surgery for short upper lip was performed in 3.8 percent (n = 17), 8.4 percent (n = 37) underwent

2018 Plastic and reconstructive surgery

23. Mechanical analyses of critical surgical maneuvers in the correction of cleft lip nasal deformity. (PubMed)

Mechanical analyses of critical surgical maneuvers in the correction of cleft lip nasal deformity. The relapse of nasal deformity is a challenge for modern correction of cleft lip. A comprehensive understanding in the biomechanical perspective of both the formation and correction of the cleft lip nasal deformity would lead to improved stability of the corrective outcome. In this study, a finite element model of secondary cleft lip nasal deformity was constructed, on which two critical

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2018 PLoS ONE

24. Epidemiology and clinical profile of individuals with cleft lip and palate utilising specialised academic treatment centres in South Africa. (PubMed)

Epidemiology and clinical profile of individuals with cleft lip and palate utilising specialised academic treatment centres in South Africa. The study was conducted to determine the epidemiology and clinical profile of individuals with cleft lip and/or palate (CLP) utilizing specialized academic treatment centres in South Africa's public health sector.The Human Research Ethics Committee of the University of the Witwatersrand in Johannesburg provided ethical approval for the study. We conducted (...) per 1000 live births, with provincial variation of 0.1/1000 to 1.2/1000. The distribution of clefts was: 35.3% cleft palate; 34.6% cleft lip and palate; 19.0% cleft lip and other cleft anomalies at 2%. Of the total number of CLP, 47.5% were male and 52.5% female, and this difference was statistically significant (p<0.001). The majority of clefts occurred on the left for males (35.5%) and palate for females (43.4%), with a male predominance of unilateral cleft lip and palate (53.3%).The study

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2019 PLoS ONE

25. High patient satisfaction after secondary rhinoplasty in cleft lip patients. (PubMed)

High patient satisfaction after secondary rhinoplasty in cleft lip patients. We surveyed the subjective outcome of secondary rhinoplasty in cleft lip patients.Questionnaires were sent to 38 patients who had undergone a secondary rhinoplasty. A total of 30 questionnaires were returned and analyzed. Patients were asked to score their preoperative and postoperative nasal function and form. The validated Rhinoplasty Outcome Evaluation (ROE) questionnaire was supplemented with questions (...) evaluated to be better than improvement in nasal breathing. In retrospect, all patients would undergo the procedure again. Patient satisfaction did not correlate with the surgeon's appreciation of the aesthetic outcome of the rhinoplasty.Patient satisfaction after secondary rhinoplasty in cleft lip patients is high and comparable to that of non-cleft lip rhinoplasty patients.Copyright © 2011 American Rhinologic Society-American Academy of Otolaryngic Allergy, LLC.

2020 International forum of allergy & rhinology

26. Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate (PubMed)

Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate Cleft lip and/or cleft palate (CL/P) are congenital anomalies of the face and have multifactorial etiology, with both environmental and genetic risk factors playing crucial roles. Though at least 40 loci have attained genomewide significant association with nonsyndromic CL/P, these loci largely reside in noncoding regions of the human genome, and subsequent resequencing studies of neighboring candidate (...) genes have revealed only a limited number of etiologic coding variants. The present study was conducted to identify etiologic coding variants in GREM1, a locus that has been shown to be largely associated with cleft of both lip and soft palate.We resequenced DNA from 397 sub-Saharan Africans with CL/P and 192 controls using Sanger sequencing. Following analyses of the sequence data, we observed 2 novel coding variants in GREM1. These variants were not found in the 192 African controls and have never

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2018 The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

27. A Genome-Wide Search for Gene-Environment Effects in Isolated Cleft Lip with or without Cleft Palate Triads Points to an Interaction between Maternal Periconceptional Vitamin Use and Variants in ESRRG (PubMed)

A Genome-Wide Search for Gene-Environment Effects in Isolated Cleft Lip with or without Cleft Palate Triads Points to an Interaction between Maternal Periconceptional Vitamin Use and Variants in ESRRG Background: It is widely accepted that cleft lip with or without cleft palate (CL/P) results from the complex interplay between multiple genetic and environmental factors. However, a robust investigation of these gene-environment (GxE) interactions at a genome-wide level is still lacking (...) . Although there were potential GxVitamin effects with rs17734557 and rs1316471 and GxAlcohol effects with rs9653456 and rs921876 in the European sample, respectively, none of the SNPs was located in or near genes with strong links to orofacial clefts. GxAlcohol and GxSmoke effects were not assessed in the Asian sample because of a lack of observations for these exposures. Discussion/Conclusion: We identified significant interactions between vitamin use and variants in ESRRG in the pooled analysis

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2018 Frontiers in genetics

28. The impact of nonsyndromic cleft lip with or without cleft palate on oral health-related quality of life (PubMed)

The impact of nonsyndromic cleft lip with or without cleft palate on oral health-related quality of life Nonsyndromic cleft lip with or without cleft palate (NSCL±P) compromises oral health, leading to missing or malformed teeth, and hampering oral hygiene. Apart from anatomic damages, NSCL±P also culminates in an impact on the routine quality of life with social privation and psychological embarrassment.To evaluate the impact of NSCL±P on oral health-related quality of life.The study (...) was classified as exploratory and descriptive, with quantitative approach. Patients with NSCL±P treated between August 2013 and September 2014 at the Cleft Lip and Palate Integral Care Center (CAIF), Curitiba, Brazil, were invited to participate. Age and sex-related data were collected, as well as level of education, financial income, type of orofacial cleft, use of orthodontic and prosthetic appliances, and number of previous orofacial surgeries. Selected patients were asked to answer the Oral Impact

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2018 Journal of Applied Oral Science

29. Psychometric findings and normative values for the CLEFT-Q based on 2434 children and young adult patients with cleft lip and/or palate from 12 countries (PubMed)

Psychometric findings and normative values for the CLEFT-Q based on 2434 children and young adult patients with cleft lip and/or palate from 12 countries Patients with cleft lip and/or palate can undergo numerous procedures to improve appearance, speech, dentition and hearing. We developed a cleft-specific patient-reported outcome instrument to facilitate rigorous international measurement and benchmarking.Data were collected from patients aged 8-29 years with cleft lip and/or palate at 30 (...) hospitals in 12 countries between October 2014 and November 2016. Rasch measurement theory analysis was used to refine the scales and to examine reliability and validity. Normative CLEFT-Q values were computed for age, sex and cleft type.Analysis led to the refinement of an eating and drinking checklist and 12 scales measuring appearance (of the face, nose, nostrils, teeth, lips, jaws and cleft lip scar), health-related quality of life (psychological, social, school, speech distress) and speech function

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2018 CMAJ : Canadian Medical Association Journal

30. Oral Hygiene of Children with Cleft Lip and Palate: Efficacy of the Cleft Toothbrush - a Designed Add-on to Regular Toothbrushes. (PubMed)

Oral Hygiene of Children with Cleft Lip and Palate: Efficacy of the Cleft Toothbrush - a Designed Add-on to Regular Toothbrushes. The anatomical and morphological alterations associated with cleft lip and palate (CLP) favour the buildup of dental plaque.To assess the efficacy of a new add-on to regular toothbrush-the Cleft Toothbrush, in removing the dental plaque of CLP patients, compared to a regular toothbrush.Forty-five children with CLP were randomly organized into two groups: A (n = 26, 2 (...) -6 years old) and B (n = 19, 7-12 years old). They were evaluated at days 0, 15, 30, and 60. After brushing their teeth with a regular toothbrush or with the Cleft Toothbrush, the dental plaque was recorded using an adapted Plaque Index (aPI). Data analyses were performed in IBM SPSS(c) , and all statistic inference comparisons were made using non-parametric tests.In the first 15 days, children used a new regular toothbrush and aPI-C (teeth adjacent to the cleft) was recorded. The Cleft

2018 International Journal of Paediatric Dentistry

31. Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. (PubMed)

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. Non-syndromic cleft lip with or without cleft palate (NS-CL/P) is one of the most common human birth defects and is generally considered a complex trait. Despite numerous loci identified by genome-wide association studies, the effect sizes of common variants are relatively small, with much of the presumed genetic contribution remaining elusive. We report exome

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2018 American Journal of Human Genetics

32. Common polymorphism in the glycine N-methyltransferase gene as a novel risk factor for cleft lip with or without cleft palate. (PubMed)

Common polymorphism in the glycine N-methyltransferase gene as a novel risk factor for cleft lip with or without cleft palate. The objective of this study was to identify new environmental and genetic risk factors for orofacial clefts that arise during early foetal development. In this retrospective, case-control, mother-child pair study, 172 orofacial clefts cases and 199 healthy controls, and their respective mothers, were genotyped for common variants in relevant genes obtained by text (...) and database mining using STRING 10.0. Exposure to environmental risk factors was evaluated using questionnaires. Variant glycine N-methyltransferase (odds ratio (OR) 2.1, 95% confidence interval (95% CI) 1.0-4.4) and dihydrofolate reductase (OR 2.4, 95% CI 1.3-4.5) genotypes were identified as risk factors for cleft lip with or without cleft palate formation. Furthermore, synergy was detected between variant glycine N-methyltransferase and dihydrofolate reductase genotypes in promoting cleft lip

2018 International Journal of Oral and Maxillofacial Surgery

33. Identification of key genes in cleft lip with or without cleft palate regulated by miR-199a-5p. (PubMed)

Identification of key genes in cleft lip with or without cleft palate regulated by miR-199a-5p. Cleft lip with or without cleft palate (CL/P) is one of the most common congenital defects, which etiology involves both genetic and environmental factors. Previous studies have shown that miR-199a-5p may mediate the occurrence of CL/P. However, the key target genes regulated by miR-199a-5p are not clear. In this study, we employed a systematic bioinformatics analysis of target genes regulated by miR

2018 International Journal of Pediatric Otorhinolaryngology

34. Internationally adopted children with cleft lip and/or cleft palate: Middle ear findings and hearing during childhood. (PubMed)

Internationally adopted children with cleft lip and/or cleft palate: Middle ear findings and hearing during childhood. Adopted children with cleft lip and/or cleft palate form a diverse group of patients. Due to increased age at palatal repair, adopted children have a higher risk of velopharyngeal insuffiency and poor speech outcome. Delayed palate repair may also lead to longer lasting Eustachian tube dysfunction. Decreased function of the Eustachian tube causes otitis media with effusion (...) and recurrent acute otitis media, which can lead to other middle ear problems and hearing loss.One-hundred-and-thirty-two adopted children treated by the Cleft palate team in Wilhelmina Children's Hospital during January 1994 and December 2014 were included. Retrospectively, middle ear findings, the need for ventilation tube insertion and hearing during childhood were assessed. Findings were compared with 132 locally born children with cleft lip and/or cleft palate.Adopted children had a mean age of 26.5

2018 International Journal of Pediatric Otorhinolaryngology

35. Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes. (PubMed)

Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes. Orofacial development is a multifaceted process involving tightly regulated genetic signaling networks, that when perturbed, lead to orofacial abnormalities including cleft lip and/or cleft palate. We and others have shown an association between the cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2) gene and nonsyndromic cleft lip (...) with or without cleft palate (NSCLP). Further, we demonstrated that knockdown of Crispld2 in zebrafish alters neural crest cell migration patterns resulting in abnormal jaw and palate development. In this study, we performed RNA profiling in zebrafish embryos and identified 249 differentially expressed genes following knockdown of Crispld2. In silico pathway analysis identified a network of seven genes previously implicated in orofacial development for which differential expression was validated in three

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2018 European Journal of Human Genetics

36. 2p24.2 (rs7552) is a susceptibility locus for nonsyndromic cleft lip with or without cleft palate in the Brazilian population. (PubMed)

2p24.2 (rs7552) is a susceptibility locus for nonsyndromic cleft lip with or without cleft palate in the Brazilian population. The population of Brazil is highly admixed, with each individual showing variable levels of Amerindian, European and African ancestry, which may interfere in the genetic susceptibility of known risk loci to nonsyndromic cleft lip with or without cleft palate (NSCL±P). Here, we investigated 5 reported genome-wide loci for NSCL±P in an ancestry-structured case-control

2018 Clinical Genetics

37. Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only (PubMed)

Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human birth defects with multifactorial etiology. Here, we present results from a genome-wide imputation study of nsCL/P in which, after adding replication cohort data, four novel risk loci for nsCL/P are identified (at chromosomal regions 2p21, 14q22 (...) % contributed to by the 24 risk loci known to date. For each of these, we identify credible SNPs using a Bayesian refinement approach, with two loci harbouring only one probable causal variant. Finally, we demonstrate that there is no polygenic component of nsCL/P detectable that is shared with nonsyndromic cleft palate only (nsCPO). Our data suggest that, while common variants are strongly contributing to risk for nsCL/P, they do not seem to be involved in nsCPO which might be more often caused by rare

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2017 Human molecular genetics

38. The prevalence of dental anomalies in non-syndromic individuals with cleft lip and/or palate: a systematic review and meta-analysis

The prevalence of dental anomalies in non-syndromic individuals with cleft lip and/or palate: a systematic review and meta-analysis Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. CRD bears no responsibility or liability for the content of this registration record, any associated files or external websites. Email salutation (e.g. "Dr Smith" or "Joanne

2019 PROSPERO

39. The effect of facemasks in patients with unilateral cleft lip and palate: a systematic review

The effect of facemasks in patients with unilateral cleft lip and palate: a systematic review Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission is accurate and complete. CRD bears no responsibility or liability for the content of this registration record, any associated files or external

2019 PROSPERO

40. The impact of social stigma on children with cleft lip and/or palate in low-resource areas: a systematic review

The impact of social stigma on children with cleft lip and/or palate in low-resource areas: a systematic review Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information supplied for this submission is accurate and complete. CRD bears no responsibility or liability for the content of this registration record, any associated files

2019 PROSPERO

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