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Cleft Lip

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2621. Unraveling Human Cleft Lip and Palate Research. (Abstract)

Unraveling Human Cleft Lip and Palate Research. The focus of this work is to highlight the most recent advances in the understanding of cleft lip and palate occurrence. Information regarding research on long-term outcomes, genes and their interactions with other genes, and gene-environment interactions is compiled to provide the reader with a critical and up-to-date overview on the current knowledge of the etiology of cleft lip and palate. Recent epidemiological evidence strongly suggests (...) that individuals born with clefts have a shorter lifespan and may have a higher incidence of cancer and psychological disorders. IRF6 has been shown to be an important contributor to cleft lip and palate, but the functional variant leading to the defect has not yet been defined. Inactivation of MSX1 and genes in the FGF family has also been shown to lead to cleft lip and palate. In addition, missense mutations in several candidate genes may cause cleft lip and palate, but definitive evidence regarding

2008 Journal of Dental Research

2622. More caries in primary teeth of children who have cleft lip and palate. Full Text available with Trip Pro

More caries in primary teeth of children who have cleft lip and palate. 18158544 2008 02 04 2007 12 25 1476-5446 8 4 2007 Evidence-based dentistry Evid Based Dent More caries in primary teeth of children who have cleft lip and palate. Do children who have cleft lip and palate have elevated caries levels in the primary and permanent dentition? 106 O'Neill Julian J Orthodontic Department, Kettering General Hospital NHS Trust, Kettering, Northamptonshire, UK. eng Comment Journal Article England

2007 Evidence Based Dentistry

2623. Assessment of growth and feeding practices in children with cleft lip and palate. (Abstract)

Assessment of growth and feeding practices in children with cleft lip and palate. Feeding difficulties in cleft lip and palate (CLP) infants is commonly observed and is the most traumatic experience the family has to face. These infants are undernourished and have compromised growth. The purpose of this study was to 1) assess general health and growth parameters in children with CLP and in normal children; and 2) investigate the feeding methods of CLP infants and normal infants. A total of 221

2005 Southeast Asian Journal of Tropical Medicine and Public Health

2624. FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate. (Abstract)

FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate. Owing to the complex aetiology and the variable penetrance of cleft lip and/or palate (CL/P), understanding the molecular basis has been challenging. Recent reports have identified two independent biochemical pathways that will help to elucidate the underlying pathology. Fibroblast growth factor signalling, previously known for its involvement in craniofacial development, is now implicated (...) in the genetic basis of both syndromic and non-syndromic CL/P. At the same time, an important role in lip and palate development is beginning to emerge for small ubiquitin-like modifier modification, a widely used posttranslational regulatory mechanism. Both of these pathways might interact with environmental risk factors for CL/P. Here we review their contribution to normal and abnormal orofacial development.

2007 Trends in Genetics

2625. Cephalometric evaluation of long-term craniofacial development in unilateral cleft lip and palate patients treated with delayed hard palate closure. (Abstract)

Cephalometric evaluation of long-term craniofacial development in unilateral cleft lip and palate patients treated with delayed hard palate closure. This long-term cephalometric study aimed to evaluate the craniofacial development of patients with a complete unilateral cleft lip and palate treated with a two-stage palatal closure, including delayed closure of the hard palate. Prediction models for cephalometric outcome at age 18 years were developed with the help of cephalometric values at 9 (...) and 12 years. The objective need for surgery at age 18 was predicted from cephalometric values at age 9. Cephalograms of 43 consecutive patients with a complete unilateral cleft lip and palate were analysed at 9, 12 and 18 years. The patient group showed a retrusive craniofacial growth pattern for the maxilla and mandible, and a rather vertical growth pattern for the lower face. Using multiple linear regression, for most cephalometric variables, 40-80% of the cephalometric values at early adulthood

2007 International Journal of Oral and Maxillofacial Surgery

2626. Abnormal brain structure in children with isolated clefts of the lip or palate. Full Text available with Trip Pro

Abnormal brain structure in children with isolated clefts of the lip or palate. To evaluate brain structure in a sample of children with isolated clefts of the lip and/or palate (ICLP).Case-control study.Tertiary care center.A large sample of 74 children aged 7 to 17 years with ICLP was compared with a healthy control group, matched by age and sex.Isolated cleft lip and/or palate.General measures of height and head circumference were obtained. Brain structure was evaluated using magnetic

2007 Archives of Pediatrics & Adolescent Medicine

2627. What are the occlusal outcomes for unilateral cleft lip and palate patients? A national project in the UK. Full Text available with Trip Pro

What are the occlusal outcomes for unilateral cleft lip and palate patients? A national project in the UK. This national project assessed the orthodontic outcome for unilateral cleft lip and palate (UCLP) patients in the UK.Six consecutively treated fixed appliance cases where orthognathic surgery was not undertaken were assessed using the peer assessment rating (PAR) index on orthodontic study models. These cases were submitted by NHS consultant orthodontists undertaking treatment on patients (...) with cleft lip and/or palate.UK NHS consultant-led hospital service.The mean reduction in PAR score was 69% + or - 22. The mean start PAR score was 41 + or - 11. The mean end of treatment PAR was 12 + or - 9. The proportion of cases where the score was worse or no different was 7.5%.The mean percentage PAR reduction compares well with other national projects looking at outcome from patients treated in the hospital service. The mean PAR reduction could be used as a benchmark for outcome in UCLP

2007 British Dental Journal

2628. Satisfaction with treatment outcome in bilateral cleft lip and palate patients. (Abstract)

Satisfaction with treatment outcome in bilateral cleft lip and palate patients. The aim of this case-controlled study was to assess satisfaction with facial appearance and function, and health-related quality of life (HRQL) in bilateral cleft lip and palate patients (BCLP). The study sample was composed of adult BCLP subjects and controls matched for age, gender and socioeconomic status. Outcome measures included a self-administered questionnaire evaluating satisfaction with facial appearance (...) , function and HRQL. Bivariate statistics were computed to analyse the association between BCLP status and outcome measures. Forty-three treated adult BCLP patients (mean age 28.2 years, SD 7.8) were compared to 43 controls without clefts (mean age 28.5 years, SD 8.0). Quantitative and qualitative assessment revealed that BCLP patients were significantly less satisfied with the appearance of the upper lip, the nose and nasal breathing. Additionally, satisfaction with facial appearance correlated

2007 International Journal of Oral and Maxillofacial Surgery

2629. An analysis of quality of life in 130 families having small children with cleft lip/palate using the impact on family scale. (Abstract)

An analysis of quality of life in 130 families having small children with cleft lip/palate using the impact on family scale. Most parents are emotionally traumatized when confronted by the birth of a baby with an orofacial cleft (OFC). Affected families may have to compensate for increased financial, social and personal impacts before primary treatment is completed. This study was conducted to identify factors influencing the quality of life (QoL) of families having young children with OFC (...) . A self-administered questionnaire containing the impact on family scale was applied in 130 consecutive families having children with OFC aged between 6 and 24 months. The results were related to the type of cleft and the time of initial diagnosis using non-parametric tests and multivariate correlation analysis (P<0.05). In families having children with isolated cleft lip, financial and social impacts were reduced, but problems in coping were increased when compared to families with children having

2007 International Journal of Oral and Maxillofacial Surgery

2630. Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridization. Full Text available with Trip Pro

Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridization. We analysed DNA samples isolated from individuals born with cleft lip and cleft palate to identify deletions and duplications of candidate gene loci using array comparative genomic hybridisation (array-CGH).Of 83 syndromic cases analysed we identified one subject with a previously unknown 2.7 Mb deletion at 22q11.21 coinciding with the DiGeorge syndrome region. Eighteen (...) from the mother, who also has a cleft lip. These deletions appear likely to be causally associated with the phenotypes of the subjects. Estrogen receptor 1 (ESR1) and fibroblast growth factor receptor 2 (FGFR2) genes from the 6q25.1-25.2 and 10q26.11-26.13, respectively, were identified as likely causative genes using a gene prioritization software.We have shown that array-CGH analysis of DNA samples derived from cleft lip and palate subjects is an efficient and productive method for identifying

2007 Journal of Medical Genetics

2631. Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults. Full Text available with Trip Pro

Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults. Clefts of the lip, alveolus, and palate (CLPs) rank among the most frequent and significant congenital malformations. Leu10Pro and Arg25Pro polymorphisms in the precursor region and Thr263Ile polymorphism in the prodomain of the transforming growth factor beta1 (TGF-beta1) gene have proved to be crucial to predisposition of several

2004 BMC Medical Genetics

2632. Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population. (Abstract)

Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population. The aetiology of non-syndromic cleft lip with or without cleft palate (CL/P) is very complex. It has been shown that polymorphic variants of genes encoding key proteins of folate and methionine metabolism might be important maternal risk factors of having a child with this craniofacial anomaly. Therefore, in our study, mothers with CL/P children as well as control mothers were examined

2006 Clinical Genetics

2633. Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34. Full Text available with Trip Pro

Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34. Nonsyndromic cleft lip with or without cleft palate (CL-P) is a common congenital anomaly with incidence ranging from 1 in 300 to 1 in 2,500 live births. We analyzed two Indian pedigrees (UR017 and UR019) with isolated, nonsyndromic CL-P, in which the anomaly segregates as an autosomal dominant trait. The phenotype was variable, ranging from

2006 American Journal of Human Genetics

2634. Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1. Full Text available with Trip Pro

Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital facial defects, with an incidence of 1 in 700-1,000 live births among individuals of European descent. Several linkage and association studies of NSCL/P have suggested numerous candidate genes and genomic regions. A genomewide linkage analysis of a large multigenerational family (UR410) with NSCL/P (...) marker rs1824683 (42,403,918 bp) and distal marker rs768206 (48,132,862 bp). Thus, a novel genomic region on 18q21.1 was identified that most likely harbors a high-risk variant for NSCL/P in this family; we propose to name this locus "OFC11" (orofacial cleft 11).

2007 American Journal of Human Genetics

2635. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. Full Text available with Trip Pro

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. We report the association of CDH1/E-cadherin mutations with cleft lip, with or without cleft palate (CLP), in two families with hereditary diffuse gastric cancer (HDGC). In each family, the CDH1 mutation was a splicing mutation generating aberrant transcripts with an in-frame deletion, removing the extracellular cadherin repeat domains involved in cell-cell adhesion. Such transcripts might encode (...) mutant proteins with trans-dominant negative effects. We found that CDH1 is highly expressed at 4 and 5 weeks in the frontonasal prominence, and at 6 weeks in the lateral and medial nasal prominences of human embryos, and is therefore expressed during the critical stages of lip and palate development. These findings suggest that alteration of the E-cadherin pathway can contribute to human clefting.

2006 Journal of Medical Genetics

2636. Genetic evidence for the role of loci at 19q13 in cleft lip and palate. Full Text available with Trip Pro

Genetic evidence for the role of loci at 19q13 in cleft lip and palate. Clefts of the lip and palate are common birth defects, affecting approximately 1 in 700 births worldwide. The aetiology of clefting is complex, with multiple genetic and environmental influences.Genotype based linkage disequilibrium analysis was conducted using the family based association test (FBAT) and the likelihood ratio test (LRT). We also carried out direct sequencing of the PVR and PVRL2 candidate genes based (...) on their homology to PVRL1, a gene shown previously to cause Margarita Island clefting. Participants included 434 patients with cleft lip with or without cleft palate or cleft palate only and their mothers from eight countries in South America, 205 nuclear triads (father-mother-affected child) from Iowa, 541 nuclear triads from Denmark, and 100 patients with cleft lip and palate from the Philippines.An allelic variant in the PVR gene showed statistically significant association with both South American and Iowa

2006 Journal of Medical Genetics

2637. A mutation of the p63 gene in non-syndromic cleft lip. Full Text available with Trip Pro

A mutation of the p63 gene in non-syndromic cleft lip. Mutations in the p63 gene (TP63) underlie several monogenic malformation syndromes manifesting cleft lip with or without cleft palate (CL/P). We investigated whether p63 mutations also result in non-syndromic CL/P. Specifically, we performed mutation analysis of the 16 exons of the p63 gene for 100 Thai patients with non-syndromic CL/P. In total, 21 variant sites were identified. All were single nucleotide changes, with six in coding

2006 Journal of Medical Genetics

2638. Evaluation of speech intelligibility for children with cleft lip and palate by means of automatic speech recognition. (Abstract)

Evaluation of speech intelligibility for children with cleft lip and palate by means of automatic speech recognition. Cleft lip and palate (CLP) may cause functional limitations even after adequate surgical and non-surgical treatment, speech disorders being one of them. Interindividually, they vary a lot, showing typical articulation specifics such as nasal emission and shift of articulation and therefore a diminished intelligibility. Until now, an objective means to determine and quantify (...) the intelligibility does not exist.An automatic speech recognition system, a new method, was applied on recordings of a standard test to evaluate articulation disorders (psycholinguistic analysis of speech disorders of children PLAKSS) of 31 children at the age of 10.1+/-3.8 years. Two had an isolated cleft lip, 20 a unilateral cleft lip and palate, 4 a bilateral cleft lip and palate, and 5 an isolated cleft palate. The speech recognition system was trained with adults and children without speech disorders

2006 International Journal of Pediatric Otorhinolaryngology

2639. Human genetic factors in nonsyndromic cleft lip and palate: an update. (Abstract)

Human genetic factors in nonsyndromic cleft lip and palate: an update. Nonsyndromic cleft lip and/or palate (or orofacial cleft, OFC) is a malformation characterized by an incomplete separation between nasal and oral cavities without any associated anomalies. The last point defines the distinction between syndromic and nonsyndromic OFC. Nonsyndromic OFC is one of the most common malformations among live births and is composed of two separate entities: cleft lip with or without cleft palate (CL (...) with haploinsufficiency of the SUMO1 gene. In addition, MTHFR, TGF-beta3, and RARalpha play a role in cleft onset. In CPI one gene has been identified (TBX22) at present, but others are probably involved. Greater efforts are necessary in order to have a complete picture of the main factors involved in lip and palate formation. These elements will permit us to better understand and better treat patients affected by OFC.

2007 International Journal of Pediatric Otorhinolaryngology

2640. Early repair for infants with cleft lip and nose. (Abstract)

Early repair for infants with cleft lip and nose. To study the results 10 years after early surgical cleft lip and nose repair.We present the outcome of 123 early cleft lip repairs whose condition was managed in a multidisciplinary team according to a strict protocol. We give the observation results of operations of a single surgeon's neonatal surgery over a 10-year period in term of aesthetic assessments and dental arch relationships. One hundred and twenty-three patients were operated (...) on during the first 4 weeks of life; a subgroup of 40 child had been operated on at a week or less of age.The results show good aesthetic assessments and dental relationships, with facial growth appropriate for the age.We are currently encouraging early cleft lip and nose repair in the full-term baby as the good method of management of newborns with cleft.

2006 International Journal of Pediatric Otorhinolaryngology

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