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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. 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

24. 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

25. 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

26. 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

27. 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

2018 American Journal of Human Genetics

28. 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

2018 European Journal of Human Genetics

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. 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

31. 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

32. 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

33. 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

34. Cleft lip and palate patients have higher caries experience

Cleft lip and palate patients have higher caries experience Cleft lip and palate patients have higher caries experience - National Elf Service Search National Elf Service Search National Elf Service » » » » Cleft lip and palate patients have higher caries experience Oct 10 2017 Posted by Cleft lip and palate (CL/P) is a common birth anomaly and is seen in around 1 in 700 live births. It may occur with other birth anomalies or syndromes or occur in isolation. A number of studies have suggested (...) Business Elite and Google Scholar databases. Reference list of retrieved studies and the journals th e Cleft Palate Craniofacial Journal ; Th e American Cleft Palate-Craniofacial Journal and The Journal of Cleft Lip and Palate and Craniofacial Anomalies were hand searched. Studies involving comparisons between a cleft group and a non-cleft group were considered. Studies involving patients with syndromic CL/P were only included if they included less than 20% of the study group. Initial study selection

2017 The Dental Elf

35. Orthodontic treatment outcomes for cleft lip and palate patients

Orthodontic treatment outcomes for cleft lip and palate patients Orthodontic treatment outcomes for cleft lip and palate patients - National Elf Service Search National Elf Service Search National Elf Service » » » » Orthodontic treatment outcomes for cleft lip and palate patients May 8 2017 Posted by Orthodontic treatment is important in the management of children affected by cleft lip and/or palate (CL/P). Orthodontic interventions can be undertaken at several developmental stages up

2017 The Dental Elf

36. 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

37. 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

38. How does bone-anchored maxillary protraction affect the temporomandibular joints of patients with nonsyndromic cleft lip and palate compared to conventional maxillary protraction?

How does bone-anchored maxillary protraction affect the temporomandibular joints of patients with nonsyndromic cleft lip and palate compared to conventional maxillary protraction? 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

2019 PROSPERO

39. Pre-surgical NAM (nasoalveolar molding): an evaluation of a rational treatment and systematic review. Part I: bilateral cleft lip and palate

Pre-surgical NAM (nasoalveolar molding): an evaluation of a rational treatment and systematic review. Part I: bilateral cleft lip and palate 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

2019 PROSPERO

40. Treatment outcome after neonatal cleft lip repair in 5-year-old children with unilateral cleft lip and palate. (PubMed)

Treatment outcome after neonatal cleft lip repair in 5-year-old children with unilateral cleft lip and palate. The aim of this study was to assess speech outcomes and dental arch relationship of 5-year-old Czech patients with unilateral cleft lip and palate (UCLP) who have undergone neonatal cleft lip repair and one-stage palatal closure.Twenty-three patients with UCLP, born between 2009 and 2010, were included in the study. Three universal speech parameters (hypernasality, articulation (...) of patients were scored GOSLON 1 and 2, 26% GOSLON 3, and 10% GOSLON 4. GOSLON mean score was 2.35. Interrater agreement was very good, represented by kappa value of 0.867.The treatment protocol, involving neonatal cleft lip repair and one-stage palatal repair performed up to the first year of UCLP patient's life, has shown good speech outcomes and produced very good treatment results in regard to maxillary growth, comparable with other cleft centers.Copyright © 2016 Elsevier Ireland Ltd. All rights

2016 International Journal of Pediatric Otorhinolaryngology

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