Science.gov

Sample records for non-syndromic cleft lip

  1. Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate

    SciTech Connect

    Wyszynski, D.F. |; Lewanda, A.F. |; Beaty, T.H.

    1996-12-30

    Despite considerable research, the cause of non-syndromic cleft lip with or without cleft palate (NSCLP) is still an enigma. Case-control and cohort studies have searched for environmental factors that might influence the development of this common malformation, such as maternal cigarette smoking, periconceptional supplementation of folic acid and multivitamins, agricultural chemical use, and place of residence, among others. However, these studies are subject to numerous biases, and their results have often been contradictory and inconclusive. 41 refs., 1 fig.

  2. Malonylcarnitine in Newborns with Non-syndromic Cleft Lip with or without Cleft Palate

    PubMed Central

    Hozyasz, Kamil Konrad; Oltarzewski, Mariusz; Dudkiewicz, Zofia

    2010-01-01

    Aim Malonyl-CoA is regarded as a key signaling molecule in mammalian cells. It is converted to acetyl-CoA, and to a lesser extent, to malonyl acid and malonylcarnitine (C3DC). Availability of carnitine has been reported to be essential for the developing fetus. The objectives of the present study were to analyze associations of malonylcarnitine, acetylcarnitine (C2), and free carnitine (C0) in subjects with orofacial clefts. Methodology We performed a retrospective analysis of carnitine concentration obtained from a newborn screening program carried out in our institution. Concentrations of whole blood malonylcarnitine, acetylcarnitine, and free carnitine were measured using tandem mass spectrometry. The study group consisted of 51 children with non-syndromic cleft lip with or without cleft palate. In total, 106 healthy children without congenital anomalies served as controls. Cut-off points were established using likelihood ratio values. Results The mean concentration of malonylcarnitine in the cleft group was lower than that of the control group, 0.048 μmol·L−1 vs. 0.058 μmol·L−1, respectively (P=0.009). In patients with orofacial cleft, low malonylcarnitine levels (≤0.047 μmol·L−1) were 1.7 times more predominant than in healthy individuals (P=0.03). The mean concentration of acetylcarnitine was also lower in affected newborns in comparison to controls, 33.8 μmol·L−1 vs. 37.8 μmol·L−1, respectively (P=0.026). After analysis of acetylcarnitine and free carnitine concentrations, the likelihood ratio test did not indicate valuable cut-off points. Conclusion The study provides initial data indicating a potential association between decreased malonylcarnitine and abnormal palatogenesis. PMID:21125791

  3. Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing

    PubMed Central

    Liu, Ya-Peng; Xu, Li-Fang; Wang, Qi; Zhou, Xiao-Long; Zhou, Ji-Long; Pan, Chen; Zhang, Jin-Peng; Wu, Qin-Rong; Li, Yi-Qun; Xia, Yu-Juan; Peng, Xiu; Zhang, Mei-Rong; Yu, Hong-Min

    2015-01-01

    Background Non-syndromic cleft lip with or without cleft palate (NSCL/P) is among the most common congenital malformations. The etiology of NSCL/P remains poorly characterized owing to its complex genetic heterogeneity. The objective of this study was to identify genetic variants that increase susceptibility to NSCL/P. Material and Methods Whole-exome sequencing (WES) was performed in 8 fetuses with NSCL/P in China. Bioinformatics analysis was performed using commercially available software. Variants detected by WES were validated by Sanger sequencing. Results By filtering out synonymous variants in exons, we identified average 8575 nonsynonymous single nucleotide variants (SNVs). We subsequently compared the SNVs against public databases including NCBI dbSNP build 135 and 1000 Genomes Project and obtained an average of 203 SNVs. Total 12 reported candidate genes were verified by Sanger sequencing. Sanger sequencing also confirmed 16 novel SNVs shared by two or more samples. Conclusions We have found and confirmed 16 susceptibility genes responsible for NSCL/P, which may play important role in the etiology of NSCL/P. The susceptibility genes identified in this study will not only be useful in revealing the etiology of NSCL/P but also in diagnosis and treatment of the patients with NSCL/P. Key words:Non-syndromic cleft lip with or without cleft palate, whole-exome sequencing, sanger sequencing, susceptibility gene, single nucleotide variants (SNVs). PMID:26449438

  4. Genomic expression in non syndromic cleft lip and palate patients: A review

    PubMed Central

    Mehrotra, D.

    2015-01-01

    Cleft lip and palate are common congenital anomalies with significant medical, psychological, social, and economic ramifications, affecting one in seven hundred live births. Genetic causes of non syndromic cleft lip and/or palate (NSCLP) include chromosomal rearrangements, genetic susceptibility to teratogenic exposures, and complex genetic contributions of multiple genes. Development of the orofacial clefts in an individual will depend on the interaction of several moderately effecting genes with environmental factors. Several candidate genes have been genotyped in different population types, using case parent trio or case control design; also genes have been sequenced and SNPs have been reported. Quantitative and molecular analysis have shown linkage and association studies to be more relevant. Recent literature search shows genome wide association studies using microarray. The aim of this paper was to review the approaches to identify genes associated with NSCLP and to analyze their differential expressions. Although no major gene has been confirmed, a lot of research is ongoing to provide an understanding of the pathophysiology of the orofacial clefts. PMID:26258020

  5. PVRL1 Variants Contribute to Non-Syndromic Cleft Lip and Palate in Multiple Populations

    PubMed Central

    Avila, Joseph R.; Jezewski, Peter A.; Vieira, Alexandre R.; Orioli, Iêda M.; Castilla, Eduardo E.; Christensen, Kaare; Daack-Hirsch, Sandra; Romitti, Paul A.; Murray, Jeffrey C.

    2007-01-01

    Poliovirus Receptor Like-1 (PVRL1) is a member of the immunoglobulin super family that acts in the initiation and maintenance of epithelial adherens junctions and is mutated in the cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1, OMIM #225000). In addition, a common non-sense mutation in PVRL1 was discovered more often among non-syndromic sporadic clefting cases in Northern Venezuela in a previous case-control study. The present work sought to ascertain the role of PVRL1 in the sporadic forms of orofacial clefting in multiple populations. Multiple rare and common variants from all three splice isoforms were initially ascertained by sequencing 92 Iowan and 86 Filipino cases and CEPH controls. Using a family-based analysis to examine these variants, the common glycine allele of the G361V coding variant was significantly overtransmitted among all orofacial clefting phenotypes (P = 0.005). This represented G361V genotyping from over 800 Iowan, Danish, and Filipino families. Among four rare amino acid changes found within the V1 and C1 domains, S112T and T131A were found adjacent to critical amino acid positions within the V1 variable domain, regions previously shown to mediate cell-to-cell and cell-to-virus adhesion. The T131A variant was not found in over 1,300 non-affected control samples although the alanine is found in other species. The serine of the S112T variant position is conserved across all known PVRL1 sequences. Together these data suggest that both rare and common mutations within PVRL1 make a minor contribution to disrupting the initiation and regulation of cell-to-cell adhesion and downstream morphogenesis of the embryonic face. PMID:17089422

  6. Candidate gene association studies in syndromic and non-syndromic cleft lip and palate

    SciTech Connect

    Daack-Hirsch, S.; Basart, A.; Frischmeyer, P.

    1994-09-01

    Using ongoing case ascertainment through a birth defects registry, we have collected 219 nuclear families with non-syndromic cleft lip and/or palate and 111 families with a collection of syndromic forms. Syndromic cases include 24 with recognized forms and 72 with unrecognized syndromes. Candidate gene studies as well as genome-wide searches for evidence of microdeletions and isodisomy are currently being carried out. Candidate gene association studies, to date, have made use of PCR-based polymorphisms for TGFA, MSX1, CLPG13 (a CA repeat associated with a human homologue of a locus that results in craniofacial dysmorphogenesis in the mouse) and an STRP found in a Van der Woude syndrome microdeletion. Control tetranucleotide repeats, which insure that population-based differences are not responsible for any observed associations, are also tested. Studies of the syndromic cases have included the same list of candidate genes searching for evidence of microdeletions and a genome-wide search using tri- and tetranucleotide polymorphic markers to search for isodisomy or structural rearrangements. Significant associations have previously been identified for TGFA, and, in this report, identified for MSX1 and nonsyndromic cleft palate only (p = 0.04, uncorrected). Preliminary results of the genome-wide scan for isodisomy has returned no true positives and there has been no evidence for microdeletion cases.

  7. IRF6 polymorphisms in Mexican patients with non-syndromic cleft lip

    PubMed Central

    Ibarra-Arce, Aurora; García-Álvarez, Martín; Cortés-González, Daniel; Ortiz de Zarate-Alarcón, Gabriela; Flores-Peña, Laura; Sánchez-Camacho, Sandra; Arenas-Díaz, Silvia; Romero-Valdovinos, Mirza; Olivo-Díaz, Angélica

    2015-01-01

    Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects; it is a multifactorial disease affecting > 1/1,000 live births in Europe, and its etiology is largely unknown, although it is very likely genetic and environmental factors contribute to this malformation. Orofacial development is a complex process involving many genes and signaling pathways. Mutations in the gene for the interferon regulatory factor 6 (IRF6) cause a hereditary dominant malformation syndrome including CL/P, and polymorphisms are associated with non-syndromic CL/P (MIM 119530). Five SNPs at the locus with high heterozygosity in Caucasian populations were chosen for the present research due to their very strong association with CL/P. A case–parent trio study was performed using 292 samples from Mexico. Association with the rs1319435-C/C genotype (P = 0.02) was found in patients (73) as compared to pseudocontrols (219), while the genotype rs1319435-T/C was related with protection (P = 0.041) in the triad design. Significant over-transmission of the G allele for marker rs2235375 (P = 0.049) was found. Only the TACGT haplotype was diminished in the affected child, either in single (P = 0.0208) or double (P = 0.0208) dose. The pairwise analysis showed rs2235543 and rs2235371 were in strong linkage disequilibrium. These results point to a substantial contribution of IRF6 in the etiology of non-syndromic CL/P in a sample of the Mexican population. PMID:25853057

  8. Electrophysiological assessment of auditory processing disorder in children with non-syndromic cleft lip and/or palate

    PubMed Central

    McPherson, Bradley; Ma, Lian

    2016-01-01

    Objectives Cleft lip and/or palate is a common congenital craniofacial malformation found worldwide. A frequently associated disorder is conductive hearing loss, and this disorder has been thoroughly investigated in children with non-syndromic cleft lip and/or palate (NSCL/P). However, analysis of auditory processing function is rarely reported for this population, although this issue should not be ignored since abnormal auditory cortical structures have been found in populations with cleft disorders. The present study utilized electrophysiological tests to assess the auditory status of a large group of children with NSCL/P, and investigated whether this group had less robust central auditory processing abilities compared to craniofacially normal children. Methods 146 children with NSCL/P who had normal peripheral hearing thresholds, and 60 craniofacially normal children aged from 6 to 15 years, were recruited. Electrophysiological tests, including auditory brainstem response (ABR), P1-N1-P2 complex, and P300 component recording, were conducted. Results ABR and N1 wave latencies were significantly prolonged in children with NSCL/P. An atypical developmental trend was found for long latency potentials in children with cleft compared to control group children. Children with unilateral cleft lip and palate showed a greater level of abnormal results compared with other cleft subgroups, whereas the cleft lip subgroup had the most robust responses for all tests. Conclusion Children with NSCL/P may have slower than normal neural transmission times between the peripheral auditory nerve and brainstem. Possible delayed development of myelination and synaptogenesis may also influence auditory processing function in this population. Present research outcomes were consistent with previous, smaller sample size, electrophysiological studies on infants and children with cleft lip/palate disorders. In view of the these findings, and reports of educational disadvantage associated

  9. Electrophysiological assessment of auditory processing disorder in children with non-syndromic cleft lip and/or palate

    PubMed Central

    McPherson, Bradley; Ma, Lian

    2016-01-01

    Objectives Cleft lip and/or palate is a common congenital craniofacial malformation found worldwide. A frequently associated disorder is conductive hearing loss, and this disorder has been thoroughly investigated in children with non-syndromic cleft lip and/or palate (NSCL/P). However, analysis of auditory processing function is rarely reported for this population, although this issue should not be ignored since abnormal auditory cortical structures have been found in populations with cleft disorders. The present study utilized electrophysiological tests to assess the auditory status of a large group of children with NSCL/P, and investigated whether this group had less robust central auditory processing abilities compared to craniofacially normal children. Methods 146 children with NSCL/P who had normal peripheral hearing thresholds, and 60 craniofacially normal children aged from 6 to 15 years, were recruited. Electrophysiological tests, including auditory brainstem response (ABR), P1-N1-P2 complex, and P300 component recording, were conducted. Results ABR and N1 wave latencies were significantly prolonged in children with NSCL/P. An atypical developmental trend was found for long latency potentials in children with cleft compared to control group children. Children with unilateral cleft lip and palate showed a greater level of abnormal results compared with other cleft subgroups, whereas the cleft lip subgroup had the most robust responses for all tests. Conclusion Children with NSCL/P may have slower than normal neural transmission times between the peripheral auditory nerve and brainstem. Possible delayed development of myelination and synaptogenesis may also influence auditory processing function in this population. Present research outcomes were consistent with previous, smaller sample size, electrophysiological studies on infants and children with cleft lip/palate disorders. In view of the these findings, and reports of educational disadvantage associated

  10. Susceptibility to DNA Damage as a Molecular Mechanism for Non-Syndromic Cleft Lip and Palate

    PubMed Central

    Sunaga, Daniele Yumi; Francis-West, Philippa; Kuta, Anna; Almada, Bruno Vinícius Pimenta; Ferreira, Simone Gomes; de Andrade-Lima, Leonardo Carmo; Bueno, Daniela Franco; Raposo-Amaral, Cássio Eduardo; Menck, Carlos Frederico; Passos-Bueno, Maria Rita

    2013-01-01

    Non-syndromic cleft lip/palate (NSCL/P) is a complex, frequent congenital malformation, determined by the interplay between genetic and environmental factors during embryonic development. Previous findings have appointed an aetiological overlap between NSCL/P and cancer, and alterations in similar biological pathways may underpin both conditions. Here, using a combination of transcriptomic profiling and functional approaches, we report that NSCL/P dental pulp stem cells exhibit dysregulation of a co-expressed gene network mainly associated with DNA double-strand break repair and cell cycle control (p = 2.88×10−2–5.02×10−9). This network included important genes for these cellular processes, such as BRCA1, RAD51, and MSH2, which are predicted to be regulated by transcription factor E2F1. Functional assays support these findings, revealing that NSCL/P cells accumulate DNA double-strand breaks upon exposure to H2O2. Furthermore, we show that E2f1, Brca1 and Rad51 are co-expressed in the developing embryonic orofacial primordia, and may act as a molecular hub playing a role in lip and palate morphogenesis. In conclusion, we show for the first time that cellular defences against DNA damage may take part in determining the susceptibility to NSCL/P. These results are in accordance with the hypothesis of aetiological overlap between this malformation and cancer, and suggest a new pathogenic mechanism for the disease. PMID:23776525

  11. SATB2 gene variants in non-syndromic cleft lip with or without cleft palate in Indian population

    PubMed Central

    Gurramkonda, Venkatesh Babu; Syed, Altaf Hussain; Murthy, Jyotsna; Lakkakula, Bhaskar V.K.S.

    2015-01-01

    Objectives Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial birth defects and little is known about its aetiology. Initial studies of cytogenetic analysis provided the clues for possible genes involved in the pathogenesis of NSCL/P. This approach led to the identification of SATB2 gene on 2q32-q33. The aim of this study was to determine the association between SATB2 mutations and NSCL/P. Materials and methods The rs137853127, rs200074373 and rs1992950 mutations of the SATB2 gene were investigated in 173 patients with NSCL/P and 176 normal controls using Kbioscience KASPar chemistry, which is a competitive allele-specific PCR SNP genotyping system. Results The mutations in exon 6 (rs137853127 and rs200074373) were monomorphic, the intronic variant (rs1992950) was polymorphic and genotype distribution was in agreement with Hardy–Weinberg equilibrium. The rs1992950 genotype distribution is not statistically significant between NSCL/P and controls. Conclusion Our findings suggest that the SATB2 gene variations do not contribute to the development of NSCL/P in the south Indian population. PMID:26605140

  12. IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

    PubMed

    Desmyter, L; Ghassibe, M; Revencu, N; Boute, O; Lees, M; François, G; Verellen-Dumoulin, C; Sznajer, Y; Moncla, A; Benateau, H; Claes, K; Devriendt, K; Mathieu, M; Van Maldergem, L; Addor, M-C; Drouin-Garraud, V; Mortier, G; Bouma, M; Dieux-Coeslier, A; Genevieve, D; Goldenberg, A; Gozu, A; Makrythanasis, P; McEntagart, U; Sanchez, A; Vilain, C; Vermeer, S; Connell, F; Verheij, J; Manouvrier, S; Pierquin, G; Odent, S; Holder-Espinasse, M; Vincent-Delorme, C; Gillerot, Y; Vanwijck, R; Bayet, B; Vikkula, M

    2010-01-01

    Van der Woude syndrome (VWS), caused by dominant IRF6 mutation, is the most common cleft syndrome. In 15% of the patients, lip pits are absent and the phenotype mimics isolated clefts. Therefore, we hypothesized that some of the families classified as having non-syndromic inherited cleft lip and palate could have an IRF6 mutation. We screened in total 170 patients with cleft lip with or without cleft palate (CL/P): 75 were syndromic and 95 were a priori part of multiplex non-syndromic families. A mutation was identified in 62.7 and 3.3% of the patients, respectively. In one of the 95 a priori non-syndromic families with an autosomal dominant inheritance (family B), new insights into the family history revealed the presence, at birth, of lower lip pits in two members and the diagnosis was revised as VWS. A novel lower lip sign was observed in one individual in this family. Interestingly, a similar lower lip sign was also observed in one individual from a 2nd family (family A). This consists of 2 nodules below the lower lip on the external side. In a 3rd multiplex family (family C), a de novo mutation was identified in an a priori non-syndromic CL/P patient. Re-examination after mutation screening revealed the presence of a tiny pit-looking lesion on the inner side of the lower lip leading to a revised diagnosis of VWS. On the basis of this data, we conclude that IRF6 should be screened when any doubt rises about the normality of the lower lip and also if a non-syndromic cleft lip patient (with or without cleft palate) has a family history suggestive of autosomal dominant inheritance. PMID:21045959

  13. IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

    PubMed Central

    Desmyter, L.; Ghassibe, M.; Revencu, N.; Boute, O.; Lees, M.; François, G.; Verellen-Dumoulin, C.; Sznajer, Y.; Moncla, A.; Benateau, H.; Claes, K.; Devriendt, K.; Mathieu, M.; Van Maldergem, L.; Addor, M.-C.; Drouin-Garraud, V.; Mortier, G.; Bouma, M.; Dieux-Coeslier, A.; Genevieve, D.; Goldenberg, A.; Gozu, A.; Makrythanasis, P.; McEntagart, U.; Sanchez, A.; Vilain, C.; Vermeer, S.; Connell, F.; Verheij, J.; Manouvrier, S.; Pierquin, G.; Odent, S.; Holder-Espinasse, M.; Vincent-Delorme, C.; Gillerot, Y.; Vanwijck, R.; Bayet, B.; Vikkula, M.

    2010-01-01

    Van der Woude syndrome (VWS), caused by dominant IRF6 mutation, is the most common cleft syndrome. In 15% of the patients, lip pits are absent and the phenotype mimics isolated clefts. Therefore, we hypothesized that some of the families classified as having non-syndromic inherited cleft lip and palate could have an IRF6 mutation. We screened in total 170 patients with cleft lip with or without cleft palate (CL/P): 75 were syndromic and 95 were a priori part of multiplex non-syndromic families. A mutation was identified in 62.7 and 3.3% of the patients, respectively. In one of the 95 a priori non-syndromic families with an autosomal dominant inheritance (family B), new insights into the family history revealed the presence, at birth, of lower lip pits in two members and the diagnosis was revised as VWS. A novel lower lip sign was observed in one individual in this family. Interestingly, a similar lower lip sign was also observed in one individual from a 2nd family (family A). This consists of 2 nodules below the lower lip on the external side. In a 3rd multiplex family (family C), a de novo mutation was identified in an a priori non-syndromic CL/P patient. Re-examination after mutation screening revealed the presence of a tiny pit-looking lesion on the inner side of the lower lip leading to a revised diagnosis of VWS. On the basis of this data, we conclude that IRF6 should be screened when any doubt rises about the normality of the lower lip and also if a non-syndromic cleft lip patient (with or without cleft palate) has a family history suggestive of autosomal dominant inheritance. PMID:21045959

  14. Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes.

    PubMed

    Pegelow, M; Peyrard-Janvid, M; Zucchelli, M; Fransson, I; Larson, O; Kere, J; Larsson, C; Karsten, A

    2008-04-01

    The aim of this study was to characterize Swedish families with non-syndromic cleft lip and/or palate (NSCL/P) for mutations or other sequence variants in the interferon regulatory factor 6 (IRF6) gene, as well as to describe their cleft phenotypes and hypodontia. Seventeen Swedish families with at least two family members with NSCL/P were identified and clinically evaluated. Extracted DNA from blood samples was used for IRF6 mutation screening. Exonic fragments of the IRF6 gene were sequenced and chromatograms were inspected. Statistical analysis was undertaken with marker- and haplotype association tests. No disease-associated IRF6 mutation could be determined in the families analyzed. One new and seven known single nucleotide polymorphisms (SNPs) were detected. The A allele of SNP rs861019 in exon 2 and the G allele of SNP rs7552506 in intron 3 showed association with cleft lip and palate (CLP; odds ratios of 3.1 and 5.45, respectively). Hypodontia was observed more commonly in individuals affected with CL/P as compared with family members without a cleft (P < 0.01). The hypodontia most often affected the cleft area, possibly representing a secondary effect. The distribution of cleft phenotypes in 15 of the 17 families with NSCL/P differed from the mixed cleft types seen in Van der Woude syndrome (VWS), in that CLP did not occur together with an isolated cleft palate within the same family. It was concluded that mutations of the IRF6 gene are not a common cause for cleft predisposition in Swedish NSCL/P families. PMID:18209213

  15. Cleft Lip and Palate

    MedlinePlus

    ... Got Homework? Here's Help White House Lunch Recipes Cleft Lip and Cleft Palate KidsHealth > For Kids > Cleft Lip ... to the back of your mouth. What's a Cleft Lip or Cleft Palate? The word cleft means a ...

  16. Possible linkage of non-syndromic cleft lip and palate to the MSX1 homebox gene on chromosome 4p

    SciTech Connect

    Wang, S.; Walczak, C.; Erickson, R.P.

    1994-09-01

    The MSX1 (HOX7) gene has been shown recently to cause cleft palate in a mouse model deficient for its product. Several features of this mouse model make the human homolog of this gene an excellent candidate for non-syndromic cleft palate. We tested this hypothesis by linkage studies in two large multiplex human families using a microsatellite marker in the human MSX1 gene. A LOD score of 1.7 was obtained maximizing at a recombination fraction of 0.09. Computer simulation power calculations using the program SIMLINK indicated that a LOD score this large is expected to occur only about 1/200 times by chance alone for a marker locus with comparable informativeness if unlinked to the disease gene. This suggestive finding is being followed up by attempts to recruit and study additional families and by DNA sequence analyses of the MSX1 gene in these families and other cleft lip and/or cleft palate subjects and these further results will also be reported.

  17. Cleft Lip and Cleft Palate

    MedlinePlus

    ... Age Support Resources Books for Kids and Adults Cleft Lip/Palate & Craniofacial Specialists in Your Area FAQs for ... Conference: For Patients and Families Glossary of Terms Cleft lip and cleft palate comprise the most common birth ...

  18. Cleft Lip and Palate

    MedlinePlus

    Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. ... baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the ...

  19. Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population.

    PubMed

    Babu Gurramkonda, Venkatesh; Syed, Altaf Hussain; Murthy, Jyotsna; V K S Lakkakula, Bhaskar

    2016-09-01

    The aetiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) is complex involving multiple interacting genes and environmental factors. The primary objective of the present study was to investigate the role of TFAP2A gene single nucleotide polymorphisms (SNPs) in the pathogenesis of NSCL/P. In this study, 173 unrelated NSCL/P patients and 176 controls without clefts were genotyped with TFAP2A rs1675414 (Exon 1), rs3798691 (Intron 1), and rs303050 (Intron 4) variants by allele-specific amplification using the KASPar SNP genotyping system. The method of multifactor dimensionality reduction (MDR) was used to analyze gene-gene interactions. TFAP2A polymorphisms are not found to be associated with non-syndromic cleft lip with or without cleft palate (NSCL/P) at either the genotype or allele levels. No linkage disequilibrium (LD) was found between TFAP2A variants. MDR analysis did not show a significant effect of the TFAP2A gene polymorphisms on susceptibility to NSCL/P (p > 0.05). These results suggest that the analyzed variations in TFAP2A gene might not be associated with NSCL/P pathogenesis in south Indian population. PMID:27617216

  20. Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate.

    PubMed

    Birnbaum, Stefanie; Reutter, Heiko; Mende, Meinhard; de Assis, Nilma A; Diaz-Lacava, Amalia; Herms, Stefan; Scheer, Martin; Lauster, Carola; Braumann, Bert; Schmidt, Gül; Martini, Markus; Hemprich, Alexander; Pötzsch, Simone; Knapp, Michael; Nöthen, Markus M; Kramer, Franz-Josef; Mangold, Elisabeth

    2009-04-01

    Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects and has a multifactorial etiology that includes both genetic and environmental components. MYH9, the gene coding for the heavy chain of non-muscle myosin II, has been considered as a good candidate gene in NSCL/P on the basis of its expression profile during craniofacial morphogenesis. Reports in an Italian sample, as well as in an ethnically mixed North American sample, of a positive association between single-nucleotide polymorphisms in the MYH9 gene and NSCL/P have provided further support for the role of MYH9 in the development of NSCL/P. In the present study, we aimed to replicate these findings by conducting a family-based association study with seven single nucleotide polymorphisms in MYH9 using a sample of 248 NSCL/P patients and their parents. Single marker analysis resulted in a highly significant association for rs7078. In haplotype analysis, the most significant result was obtained for the SNP combination (rs7078; rs2071731; rs739097; rs5995288). Our results thus confirm the potential involvement of MYH9 in the etiology of NSCL/P in our patients of Central European origin, although further studies are warranted to determine its exact pathogenetic role. PMID:19320731

  1. Cleft lip and palate

    MedlinePlus

    Cleft palate; Craniofacial defect ... There are many causes of cleft lip and palate. Problems with genes passed down from 1 or ... all cause these birth defects. Cleft lip and palate may occur along with other syndromes or birth ...

  2. Gene expression profiling analysis contributes to understanding the association between non-syndromic cleft lip and palate, and cancer

    PubMed Central

    WANG, HONGYI; QIU, TAO; SHI, JIE; LIANG, JIULONG; WANG, YANG; QUAN, LIANGLIANG; ZHANG, YU; ZHANG, QIAN; TAO, KAI

    2016-01-01

    The present study aimed to investigate the molecular mechanisms underlying non-syndromic cleft lip, with or without cleft palate (NSCL/P), and the association between this disease and cancer. The GSE42589 data set was downloaded from the Gene Expression Omnibus database, and contained seven dental pulp stem cell samples from children with NSCL/P in the exfoliation period, and six controls. Differentially expressed genes (DEGs) were screened using the RankProd method, and their potential functions were revealed by pathway enrichment analysis and construction of a pathway interaction network. Subsequently, cancer genes were obtained from six cancer databases, and the cancer-associated protein-protein interaction network for the DEGs was visualized using Cytoscape. In total, 452 upregulated and 1,288 downregulated DEGs were screened. The upregulated DEGs were significantly enriched in the arachidonic acid metabolism pathway, including PTGDS, CYP4F2 and PLA2G16; and transforming growth factor (TGF)-β signaling pathway, including SMAD3 and TGFB2. The downregulated DEGs were distinctly involved in the pathways of DNA replication, including MCM2 and POLA1; cell cycle, including CDK1 and STAG1; and viral carcinogenesis, including PIK3CA and HIST1H2BF. Furthermore, the pathways of cell cycle and viral carcinogenesis, with higher degrees of interaction were found to interact with other pathways, including DNA replication, transcriptional misregulation in cancer, and the TGF-β signaling pathway. Additionally, TP53, CDK1, SMAD3, PIK3R1 and CASP3, with higher degrees, interacted with the cancer genes. In conclusion, the DEGs for NSCL/P were implicated predominantly in the TGF-β signaling pathway, the cell cycle and in viral carcinogenesis. The TP53, CDK1, SMAD3, PIK3R1 and CASP3 genes were found to be associated, not only with NSCL/P, but also with cancer. These results may contribute to a better understanding of the molecular mechanisms of NSCL/P. PMID:26795696

  3. Cleft Lip and Cleft Palate

    MedlinePlus

    ... refers to a cleft in the lip only accounting for 20 percent of all clefts. What causes ... permission. Oral Cavity Get Involved Professional Development Practice Management ENT Careers Marketplace Privacy Policy Terms of Use ...

  4. Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

    PubMed Central

    Pengelly, Reuben J.; Arias, Liliana; Martínez, Julio; Upstill-Goddard, Rosanna; Seaby, Eleanor G.; Gibson, Jane; Ennis, Sarah; Collins, Andrew; Briceño, Ignacio

    2016-01-01

    Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifactorial condition in which clefting is an isolated phenotype, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of phenotypes. Nonsyndromic clefting has been shown to arise through complex interactions between genetic and environmental factors. However, there is increasing evidence that the broad NSCLP classification may include a proportion of cases showing familial patterns of inheritance and contain highly penetrant deleterious variation in specific genes. Through exome sequencing of multi-case families ascertained in Bogota, Colombia, we identify 28 non-synonymous single nucleotide variants that are considered damaging by at least one predictive score. We discuss the functional impact of candidate variants identified. In one family we find a coding variant in the MSX1 gene which is predicted damaging by multiple scores. This variant is in exon 2, a highly conserved region of the gene. Previous sequencing has suggested that mutations in MSX1 may account for ~2% of NSCLP. Our analysis further supports evidence that a proportion of NSCLP cases arise through monogenic coding mutations, though further work is required to unravel the complex interplay of genetics and environment involved in facial clefting. PMID:27456059

  5. Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

    PubMed

    Pengelly, Reuben J; Arias, Liliana; Martínez, Julio; Upstill-Goddard, Rosanna; Seaby, Eleanor G; Gibson, Jane; Ennis, Sarah; Collins, Andrew; Briceño, Ignacio

    2016-01-01

    Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifactorial condition in which clefting is an isolated phenotype, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of phenotypes. Nonsyndromic clefting has been shown to arise through complex interactions between genetic and environmental factors. However, there is increasing evidence that the broad NSCLP classification may include a proportion of cases showing familial patterns of inheritance and contain highly penetrant deleterious variation in specific genes. Through exome sequencing of multi-case families ascertained in Bogota, Colombia, we identify 28 non-synonymous single nucleotide variants that are considered damaging by at least one predictive score. We discuss the functional impact of candidate variants identified. In one family we find a coding variant in the MSX1 gene which is predicted damaging by multiple scores. This variant is in exon 2, a highly conserved region of the gene. Previous sequencing has suggested that mutations in MSX1 may account for ~2% of NSCLP. Our analysis further supports evidence that a proportion of NSCLP cases arise through monogenic coding mutations, though further work is required to unravel the complex interplay of genetics and environment involved in facial clefting. PMID:27456059

  6. Evidence for an association between non-syndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4

    SciTech Connect

    Healey, S.C.; Chenevix-Trench, G.; Mitchell, L.E.

    1994-09-01

    Evidence of linkage has been reported for non-syndromic cleft lip with or without cleft palate (CL{+-}P) and two markers (D4S175 and D4S192) in the region 4q25-4q31.3. The linkage evidence comes from a single Caucasian pedigree with multiple cases of CL{+-}P in five generations. High-density pedigrees are, however, atypical of CL{+-}P and linkage evidence obtained from such a family may not be relevant to the majority of CL{+-}P families. We have, therefore, examined the association of CL{+-}P with both D4S175 and D4S192 in 95 unrelated CL{+-}P patients and 161 unselected controls. There was no evidence for an association between D4S175 and CL{+-}P in these data. There was, however, a significant association between D4S192 and CL{+-}P ({chi}{sup 2}{sub 4}=15.5,P=0.006), and the genotypic distribution was significantly heterogeneous between CL{+-}P patients and controls (P=0.025). Comparison of each of the four most common alleles (i.e A87, A89, A91 and A95), to all other alleles combined, indicated that A87 was significantly less common (OR=0.56,95% C.I. 0.34-0.90), and A95 was significantly more common (OR=1.88,95% C.I. 1.03-3.43) among the CL{+-}P patients than the controls. Although of only borderline significance, A89 also appeared to be more common among patients than controls (OR=1.43,95% C.I. 0.99-2.60). Hence, it appears that genetic variation at a CL{+-}P susceptibility locus (CSL) linked to D4S192 may be associated with both increased and decreased risk of CL{+-}P. In combination, A89 and A95 are significantly more common in CL{+-}P patients than in controls (OR=1.80;95% C.I. 1.24-2.60) and account for a risk ratio of 1.08 in the first degree relatives of CL{+-}P patients. These results provide further evidence for the presence of a CSL in the region 4q25-4q31.1, and indicate that the putative CSL is located closer to D4S192 than to D4S175.

  7. Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate

    PubMed Central

    Savitha, Sathyaprasad; Sharma, S. M.; Veena, Shetty; Rekha, R.

    2015-01-01

    Background: The bone morphogenetic protein (BMP) signalling pathway is crucial in a number of developmental processes and is critical in the formation of variety of craniofacial elements including cranial neural crest, facial primordium, tooth, lip and palate. It is an important mediator in regulation of lip and palate fusion, cartilage and bone formation. Aim: To study the role of mutation of BMP4 genes in the aetiology of non-syndromic cleft lip with or without palate (NSCL ± P) and identify it directly from human analyses. Materials and Methods: A case-control study was done to evaluate whether BMP4T538C polymorphism, resulting in an amino acid change of Val=Ala (V152A) in the polypeptide, is associated with NSCL ± P in an Indian paediatric population. Genotypes of 100 patients with NSCL ± P and 100 controls (in whom absence of CL ± P was confirmed in three generations) were detected using a polymerase chain reaction-restriction fragment length polymorphism strategy. Logistic regression was performed to evaluate allele and genotype association with NSCLP. Results: Results showed significant association between homozygous CC genotype with CL ± P (odds ratio [OR]-5.59 and 95% confidence interval [CI] = 2.85-10.99). The 538C allele carriers showed an increased risk of NSCL ± P as compared with 538 T allele (OR - 4.2% CI = 2.75-6.41). Conclusion: This study suggests an association between SNP of BMP4 gene among carriers of the C allele and increased risk for NSCLP in an Indian Population. Further studies on this aspect can scale large heights in preventive strategies for NSCLP that may soon become a reality. PMID:26424979

  8. Cleft Lip and Palate Surgery

    MedlinePlus

    ... The experts in face, mouth and jaw surgery. Cleft Lip / Palate and Craniofacial Surgery This type of surgery ... to correct a physical defect caused by a cleft lip or cleft palate, which occur once in every ...

  9. X-CHROMOSOME INACTIVATION PATTERNS IN MONOZYGOTIC TWINS AND SIB PAIRS DISCORDANT FOR NON-SYNDROMIC CLEFT LIP AND/OR PALATE

    PubMed Central

    Kimani, Jane W.; Shi, Min; Daack-Hirsch, Sandra; Christensen, Kaare; Moretti-Ferreira, Danilo; Marazita, Mary L.; Field, Leigh L.; Canady, John W.; Murray, Jeffrey C.

    2009-01-01

    Background Orofacial clefts are common birth defects with a complex etiology. While underlying mechanisms are still largely unknown, altered gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes suggest that skewed X chromosome inactivation (XCI) may contribute to the etiology of orofacial clefting. We tested this hypothesis in a sample set of female monozygotic (MZ) twins and sister pairs discordant for clefting. Methods We determined XCI in peripheral blood lymphocyte DNA using a methylation based androgen receptor gene assay. We measured skewing of XCI as the deviation in XCI pattern from a 50:50 ratio and used a paired t-test to compare the degree of skewing in cases and their unaffected sisters. Results Our analysis revealed no significant difference in the degree of skewing between twin pairs (P=0.3). However, significant differences were observed in the sister pairs (P=0.02), with the cleft lip with cleft palate (CL+P) group showing the most significant result (P=0.01). Results from the cleft lip only (P=0.79) and cleft palate only (P=0.75) groups were not significant. Conclusions We did not find evidence for involvement of skewed XCI in the discordance for clefting in our sample of female MZ twins. However, results from the paired sister study suggest that skewed XCI may be important in orofacial clefting, particularly CL+P. PMID:18000982

  10. Cleft lip repair - series (image)

    MedlinePlus

    ... the middle of the upper lip. A cleft palate is an opening in the roof of the mouth (palate). ... Cleft lip repair and cleft palate repair are indicated for: Repair of physical deformity Nursing, feeding, or speech problems resulting from cleft lip or palate

  11. A cross-sectional survey of 5-year-old children with non-syndromic unilateral cleft lip and palate: the Cleft Care UK study. Part 1: background and methodology

    PubMed Central

    Persson, M; Sandy, J R; Waylen, A; Wills, A K; Al-Ghatam, R; Ireland, A J; Hall, A J; Hollingworth, W; Jones, T; Peters, T J; Preston, R; Sell, D; Smallridge, J; Worthington, H; Ness, A R

    2015-01-01

    Structured Abstract Objectives We describe the methodology for a major study investigating the impact of reconfigured cleft care in the United Kingdom (UK) 15 years after an initial survey, detailed in the Clinical Standards Advisory Group (CSAG) report in 1998, had informed government recommendations on centralization. Setting and Sample Population This is a UK multicentre cross-sectional study of 5-year-olds born with non-syndromic unilateral cleft lip and palate. Children born between 1 April 2005 and 31 March 2007 were seen in cleft centre audit clinics. Materials and Methods Consent was obtained for the collection of routine clinical measures (speech recordings, hearing, photographs, models, oral health, psychosocial factors) and anthropometric measures (height, weight, head circumference). The methodology for each clinical measure followed those of the earlier survey as closely as possible. Results We identified 359 eligible children and recruited 268 (74.7%) to the study. Eleven separate records for each child were collected at the audit clinics. In total, 2666 (90.4%) were collected from a potential 2948 records. The response rates for the self-reported questionnaires, completed at home, were 52.6% for the Health and Lifestyle Questionnaire and 52.2% for the Satisfaction with Service Questionnaire. Conclusions Response rates and measures were similar to those achieved in the previous survey. There are practical, administrative and methodological challenges in repeating cross-sectional surveys 15 years apart and producing comparable data. PMID:26567851

  12. Incidence Assessment of MTHFR C677T and A1298C Polymorphisms in Iranian Non-syndromic Cleft Lip and/or Palate Patients

    PubMed Central

    Ebadifar, Asghar; Ameli, Nazila; Khorramkhorshid, Hamid Reza; Salehi Zeinabadi4, Mehdi; Kamali, Kourosh; Khoshbakht, Tayyebeh

    2015-01-01

    Background and aims. The aim of the present study is to determine the incidence of MTHFR C677 T and A1298C muta-tions in Iranian patients with cleft lip and/or cleft palate. Materials and methods. We screened 61 Iranian patients with cleft lip and/or cleft palate for mutations in the two alleles of MTHFR gene associated with cleft lip and/or palate: A1298C and C677T, using Polymerase Chain Reaction following by RFLP. Results. The 677T and 1298C homozygote genotypes showed a frequency of 36.1% and 11.4%, respectively. Combined genotype frequencies in newborns having oral clefts showed that the highest genotype was 677TT/1298AA (22.9%) and 677TT/1298CC genotypes were not observed. Conclusion. The results showed that 65.6% of all patients had at least one T mutant allele in C677T and 58.9% C mutant allele for A1298C. According to the frequencies of homozygosity of mutant alleles, it could be said that MTHFR genotype of 677TT shows a greater role in having oral clefts. PMID:26236436

  13. Cleft lip and palate repair

    MedlinePlus

    Orofacial cleft; Craniofacial birth defect repair; Cheiloplasty; Cleft rhinoplasty; Palatoplasty; Tip rhinoplasty ... these conditions at birth. Most times, cleft lip repair is done when the child is 6 to ...

  14. Rare Functional Variants in Genome–wide Association Identified Candidate Genes for Non-syndromic Clefts in the African Population

    PubMed Central

    Butali, Azeez; Mossey, Peter; Adeyemo, Wasiu L.; Eshete, Mekonen; Gaines, Lauren A. L.; Braimah, Ramat O.; Aregbesola, Babatunde S.; Rigdon, Jennifer; Emeka, Christian; Olutayo, James; Ogunlewe, Olugbenga; Ladeinde, Akinola; Abate, Fikre; Hailu, Taye; Mohammed, Ibrahim; Gravem, Paul; Deribew, Milliard; Gesses, Mulualem; Adeyemo, Adebowale; Marazita, Mary; Murray, Jeffrey

    2014-01-01

    Nonsyndromic clefts of the lip and palate [NSCLP] are complex genetic traits. Together, they are classified as one of the most common birth defects with a prevalence of 1/700 live births. Genome-wide association studies [GWAS] for non-syndromic cleft lip with or without cleft palate [NSCL[P

  15. Lip Prints and Inheritance of Cleft Lip and Cleft Palate

    PubMed Central

    CJ, Manasa Ravath; HC, Girish; Hegde, Ramesh B; JK, Savita

    2014-01-01

    Background: Labial mucosa has elevations and depressions forming a pattern called ‘Lip Prints’. Parents of patients with cleft lip &/or palate are known to have a particular lip print pattern. Objectives: Analysis of lip prints and relationship between Cheiloscopy and inheritance of cleft lip &/or cleft palate. Methodology: The study included 100 subjects [study groupparents with children having cleft lip &/or cleft palate, 50 fathers and 50 mothers) and 50 subjects (control group-parents having children without cleft lip &/or cleft palate, 25 fathers and 25 mothers. The lip prints of the subjects were obtained using the cellophane method and analysed using Suzuki & Tsuchihashi classification of lip prints. The data was subjected to Chi- Square test, Fisher Exact test and Student t-test [two tailed, independent]. Results: A new whorl pattern was present in the study group. The groove count was higher in the fathers’ than in the mothers’ prints in the upper lip and vice versa in the lower lip. Conclusion: The new pattern was present in the study group in a significant number of cases. The groove count was significantly high in the study group. These two parameters can be of significant value to similar future studies. PMID:25177633

  16. Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population

    SciTech Connect

    Shi, Jinna; Song, Tao; Jiao, Xiaohui; Qin, Chunlin; Zhou, Jin

    2011-07-15

    Highlights: {yields} IRF6 rs642961 polymorphism is intensively associated with NSCLP. {yields} IRF6 rs2235371 polymorphism is not associated with NSCLP in the northern Chinese population. {yields} This investigation failed to yield any evidence for the involvement of TFAP2A polymorphisms in NSCLP in the northern Chinese population. -- Abstract: Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect that is presumably caused by genetic factors alone or gene alterations in combination with environmental changes. A number of studies have shown an association between NSCLP and single-nucleotide polymorphisms (SNPs) in the interferon regulatory factor 6 (IRF6) gene in several populations. The transcription factor AP-2a (TFAP2A), which is involved in regulating mid-face development and upper lip fusion, has also be considered a candidate gene contributing to the etiology of NSCLP. The potential importance of IRF6 and TFAP2A in the NSCLP is further highlighted by a study showing that the two molecules are in the same developmental pathway. To further assess the roles of the IRF6 and TFAP2A in NSCLP, we investigated two identified IRF6 SNPs (rs2235371, rs642961) and three TFAP2A tag SNPs (rs3798691, rs1675414, rs303050) selected from HapMap data in a northern Chinese population, a group with a high prevalence of NSCLP. These SNPs were examined for association with NSCLP in 175 patients and 160 healthy controls. We observed a significant correlation between IRF6 rs642961 and NSCLP, and a lack of association between IRF6 rs2235371 polymorphisms and NSCLP in this population. This investigation indicated that there is no association between the three SNPs in the TFAP2A and NSCLP, suggesting that TFAP2A may not be involved in the development of NSCLP in the northern Chinese population. Our study provides further evidence regarding the role of IRF6 variations in NSCLP development and finds no significant association between TFAP2A and NSCLP in this

  17. Exploratory genotype-phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate.

    PubMed

    Miller, Steven F; Weinberg, Seth M; Nidey, Nichole L; Defay, David K; Marazita, Mary L; Wehby, George L; Moreno Uribe, Lina M

    2014-06-01

    Family relatives of children with nonsyndromic cleft lip with or without cleft palate (NSCL/P) who presumably carry a genetic risk yet do not manifest overt oral clefts, often present with distinct facial morphology of unknown genetic etiology. This study investigates distinct facial morphology among unaffected relatives and examines whether candidate genes previously associated with overt NSCL/P and left-right body patterning are correlated with such facial morphology. Cases were unaffected relatives of individuals with NSCL/P (n = 188) and controls (n = 194) were individuals without family history of NSCL/P. Cases and controls were genotyped for 20 SNPs across 13 candidate genes for NSCL/P (PAX7, ABCA4-ARHGAP29, IRF6, MSX1, PITX2, 8q24, FOXE1, TGFB3 and MAFB) and left-right body patterning (LEFTY1, LEFTY2, ISL1 and SNAI1). Facial shape and asymmetry phenotypes were obtained via principal component analyses and Procrustes analysis of variance from 32 coordinate landmarks, digitized on 3D facial images. Case-control comparisons of phenotypes obtained were performed via multivariate regression adjusting for age and gender. Phenotypes that differed significantly (P < 0.05) between cases and controls were regressed on the SNPs one at a time. Cases had significantly (P < 0.05) more profile concavity with upper face retrusion, upturned noses with obtuse nasolabial angles, more protrusive chins, increased lower facial heights, thinner and more retrusive lips and more protrusive foreheads. Furthermore, cases showed significantly more directional asymmetry compared to controls. Several of these phenotypes were significantly associated with genetic variants (P < 0.05). Facial height and width were associated with SNAI1. Midface antero-posterior (AP) projection was associated with LEFTY1. The AP position of the chin was related to SNAI1, IRF6, MSX1 and MAFB. The AP position of the forehead and the width of the mouth were associated with ABCA4-ARHGAP29 and MAFB. Lastly

  18. Exploratory genotype–phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate

    PubMed Central

    Miller, Steven F; Weinberg, Seth M; Nidey, Nichole L; Defay, David K; Marazita, Mary L; Wehby, George L; Moreno Uribe, Lina M

    2014-01-01

    Family relatives of children with nonsyndromic cleft lip with or without cleft palate (NSCL/P) who presumably carry a genetic risk yet do not manifest overt oral clefts, often present with distinct facial morphology of unknown genetic etiology. This study investigates distinct facial morphology among unaffected relatives and examines whether candidate genes previously associated with overt NSCL/P and left–right body patterning are correlated with such facial morphology. Cases were unaffected relatives of individuals with NSCL/P (n = 188) and controls (n = 194) were individuals without family history of NSCL/P. Cases and controls were genotyped for 20 SNPs across 13 candidate genes for NSCL/P (PAX7, ABCA4-ARHGAP29, IRF6, MSX1, PITX2, 8q24, FOXE1, TGFB3 and MAFB) and left–right body patterning (LEFTY1, LEFTY2, ISL1 and SNAI1). Facial shape and asymmetry phenotypes were obtained via principal component analyses and Procrustes analysis of variance from 32 coordinate landmarks, digitized on 3D facial images. Case–control comparisons of phenotypes obtained were performed via multivariate regression adjusting for age and gender. Phenotypes that differed significantly (P < 0.05) between cases and controls were regressed on the SNPs one at a time. Cases had significantly (P < 0.05) more profile concavity with upper face retrusion, upturned noses with obtuse nasolabial angles, more protrusive chins, increased lower facial heights, thinner and more retrusive lips and more protrusive foreheads. Furthermore, cases showed significantly more directional asymmetry compared to controls. Several of these phenotypes were significantly associated with genetic variants (P < 0.05). Facial height and width were associated with SNAI1. Midface antero-posterior (AP) projection was associated with LEFTY1. The AP position of the chin was related to SNAI1, IRF6, MSX1 and MAFB. The AP position of the forehead and the width of the mouth were associated with ABCA4–ARHGAP29 and

  19. Common Mutations of the Methylenetetrahydrofolate Reductase (MTHFR) Gene in Non-Syndromic Cleft Lips and Palates Children in North-West of Iran

    PubMed Central

    Abdollahi-Fakhim, Shahin; Asghari Estiar, Mehrdad; Varghaei, Parizad; Alizadeh Sharafi, Mahdi; Sakhinia, Masoud; Sakhinia, Ebrahim

    2015-01-01

    Introduction: Cleft lips and cleft palates are common congenital abnormalities in children. Various chromosomal loci have been suggested to be responsible the development of these abnormalities. The present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [MTHFR] A1298C and C677T) that might contribute into the etiology of these disorders through application of molecular methods. Materials and Methods: This cross-sectional and explanatory study was carried out on a study population of 65 affected children, 130 respective parents and 50 healthy individuals between 2009 and 2012 at Tabriz University of Medical Sciences, IR Iran. After DNA extraction, amplification refractory mutation system–polymerase chain reaction (ARMS-PCR) and restriction fragment length polymorphism (RFLP)-PCR were used respectively to investigate the C677T and A1298C mutations for the MTHFR gene. Results: There was a significant difference in the rates of the C677T mutation when affected patients and their fathers were compared with the control group (odds ratio [OR]=0.44) (OR=0.64). However, there was no significant difference observed in the rate of this mutation between the patients’ mothers and the control group (OR=1.35). In addition, the abnormality rate was higher in patients with the A1298C mutation and their parents, when compared with the control group. This abnormality rate was higher for the affected children and their fathers in comparison with their mothers (Fathers, OR=0.26; Mothers, OR=0.65; Children, OR=0.55). No significant difference was seen in the rate of the polymorphism C677T in its CC, when the affected children and their parents were compared with the control group. However, there was a significant difference in the A1298C mutation. Conclusion: An association was seen between the A1298C mutation and cleft lip and cleft palate abnormalities in Iran. However, there seems to be a stronger relationship

  20. Cleft Lip and Cleft Palate

    MedlinePlus

    ... virus and pregnancy Microcephaly Medicine safety and pregnancy Birth defects prevention Learn how to help reduce your risk ... of all races about the same. Can other birth defects happen along with oral clefts? Yes. There are ...

  1. Cleft lip: The historical perspective

    PubMed Central

    Bhattacharya, S.; Khanna, V.; Kohli, R.

    2009-01-01

    The earliest documented history of cleft lip is based on a combination of religion, superstition, invention and charlatanism. While Greeks ignored their existence, Spartans and Romans would kill these children as they were considered to harbour evil spirits. When saner senses prevailed Fabricius ab Aquapendente (1537–1619) was the first to suggest the embryological basis of these clefts. The knowledge of cleft lip and the surgical correction received a big boost during the period between the Renaissance and the 19th century with the publication of Pierre Franco's Petit Traité and Traité des Hernies in which he described the condition as “lievré fendu de nativité” (cleft lip present from birth). The first documented Cleft lip surgery is from China in 390 BC in an 18 year old would be soldier, Wey Young-Chi. Albucasis of Arabia and his fellow surgeons used the cautery instead of the scalpel and Yperman in 1854 recommended scarifying the margins with a scalpel before suturing them with a triangular needle dipped in wax. The repair was reinforced by passing a long needle through the two sides of the lip and fixing the shaft of the needle with a figure-of-eight thread over the lip. Germanicus Mirault can be credited to be the originator of the triangular flap which was later modified by C.W. Tennison in 1952 and Peter Randall in 1959. In the late 50s, Ralph Millard gave us his legendary ‘cut as you go’ technique. The protruding premaxilla of a bilateral cleft lip too has seen many changes throughout the ages – from being discarded totally to being pushed back by wedge resection of vomer to finally being left to the orthodontists. PMID:19884680

  2. Facial morphometrics of children with NON-syndromic orofacial clefts in Tanzania

    PubMed Central

    2014-01-01

    Background Orofacial clefts (cleft lip/palate; CL/P) are among the most common congenital anomalies, with prevalence that varies among different ethnic groups. Craniofacial shape differences between individuals with CL/P and healthy controls have been widely reported in non-African populations. Knowledge of craniofacial shape among individuals with non-syndromic CL/P in African populations will provide further understanding of the ethnic and phenotypic variation present in non-syndromic orofacial clefts. Methods A descriptive cross-sectional study was carried out at Bugando Medical Centre, Tanzania, comparing individuals with unrepaired non-syndromic CL/P and normal individuals without orofacial clefts. Three-dimensional (3D) facial surfaces were captured using a non-invasive 3D camera. The corresponding 3D coordinates for 26 soft tissue landmarks were used to characterize facial shape. Facial shape variation within and between groups, based on Procrustes superimposed data, was studied using geometric morphometric methods. Results Facial shape of children with cleft lip differed significantly from the control group, beyond the cleft itself. The CL/P group exhibited increased nasal and mouth width, increased interorbital distance, and more prognathic premaxillary region. Within the CL/P group, PCA showed that facial shape variation is associated with facial height, nasal cavity width, interorbital distance and midfacial prognathism. The isolated cleft lip (CL) and combined cleft lip and palate (CLP) groups did not differ significantly from one another (Procrustes distance = 0.0416, p = 0.50). Procrustes distance permutation tests within the CL/P group showed a significant shape difference between unilateral clefts and bilateral clefts (Procrustes distance = 0.0728, p = 0.0001). Our findings indicate the morphological variation is similar to those of studies of CL/P patients and their unaffected close relatives in non-African populations. Conclusion

  3. Psychosocial Aspects of Cleft Lip and Palate: Implications for Parental Education. Research Report 138.

    ERIC Educational Resources Information Center

    Kalland, Mirjam

    This study focused on the psychosocial aspects of cleft lip and/or palate on maternal emotional reactions and the family, with emphasis on the effect on the maternal-infant bond. Interviews were conducted with 40 mothers of 1-year-old infants with non-syndromic cleft lip and/or palate. The interviews were analyzed using the phenomenological…

  4. Primary unilateral cleft lip repair

    PubMed Central

    Adenwalla, H. S.; Narayanan, P. V.

    2009-01-01

    The unilateral cleft lip is a complex deformity. Surgical correction has evolved from a straight repair through triangular and quadrilateral repairs to the Rotation Advancement Technique of Millard. The latter is the technique followed at our centre for all unilateral cleft lip patients. We operate on these at five to six months of age, do not use pre-surgical orthodontics, and follow a protocol to produce a notch-free vermillion. This is easy to follow even for trainees. We also perform closed alar dissection and extensive primary septoplasty in all these patients. This has improved the overall result and has no long-term deleterious effect on the growth of the nose or of the maxilla. Other refinements have been used for prevention of a high-riding nostril, and correction of the vestibular web. PMID:19884683

  5. IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.

    PubMed

    Leslie, E J; Koboldt, D C; Kang, C J; Ma, L; Hecht, J T; Wehby, G L; Christensen, K; Czeizel, A E; Deleyiannis, F W-B; Fulton, R S; Wilson, R K; Beaty, T H; Schutte, B C; Murray, J C; Marazita, M L

    2016-07-01

    Van der Woude syndrome (VWS) is an autosomal dominant malformation syndrome characterized by orofacial clefting (OFC) and lower lip pits. The clinical presentation of VWS is variable and can present as an isolated OFC, making it difficult to distinguish VWS cases from individuals with non-syndromic OFCs. About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs. Screening for IRF6 mutations in apparently non-syndromic cases has been performed in several modestly sized cohorts with mixed results. In this study, we screened 1521 trios with presumed non-syndromic OFCs to determine the frequency of causal IRF6 mutations. We identified seven likely causal IRF6 mutations, although a posteriori review identified two misdiagnosed VWS families based on the presence of lip pits. We found no evidence for association between rare IRF6 polymorphisms and non-syndromic OFCs. We combined our results with other similar studies (totaling 2472 families) and conclude that causal IRF6 mutations are found in 0.24-0.44% of apparently non-syndromic OFC families. We suggest that clinical mutation screening for IRF6 be considered for certain family patterns such as families with mixed types of OFCs and/or autosomal dominant transmission. PMID:26346622

  6. Correlations between initial cleft size and dental anomalies in unilateral cleft lip and palate patients after alveolar bone grafting

    PubMed Central

    Jabbari, Fatima; Reiser, Erika; Thor, Andreas; Hakelius, Malin; Nowinski, Daniel

    2016-01-01

    Objective To determine in individuals with unilateral cleft lip and palate the correlation between initial cleft size and dental anomalies, and the outcome of alveolar bone grafting. Methods A total of 67 consecutive patients with non-syndromic unilateral complete cleft lip and palate (UCLP) were included from the cleft lip and palate-craniofacial center, Uppsala University Hospital, Sweden. All patients were operated by the same surgeon and treated according to the Uppsala protocol entailing: lip plasty at 3 months, soft palate closure at 6 months, closure of the residual cleft in the hard palate at 2 years of age, and secondary alveolar bone grafting (SABG) prior to the eruption of the permanent canine. Cleft size was measured on dental casts obtained at the time of primary lip plasty. Dental anomalies were registered on radiographs and dental casts obtained before bone grafting. Alveolar bone height was evaluated with the Modified Bergland Index (mBI) at 1 and 10-year follow-up. Results Anterior cleft width correlated positively with enamel hypoplasia and rotation of the central incisor adjacent to the cleft. There was, however, no correlation between initial cleft width and alveolar bone height at either 1 or 10 years follow-up. Conclusions Wider clefts did not seem to have an impact on the success of secondary alveolar bone grafting but appeared to be associated with a higher degree of some dental anomalies. This finding may have implications for patient counseling and treatment planning. PMID:26923345

  7. [Cleft lip and palate in Campeche Mayas].

    PubMed

    Weiss, K M; Georges, E; Levy, B; Aguirre, A; Portilla, R J; Gaitán, C L; Leyva, E; Rodríguez, T

    1988-07-01

    It has been suggested that among American Indians, as in some genetically-related Asiatic ethnic groups, incidence of cleft lip and/or cleft palate is higher than among people of Caucasian extraction. Such hypothesis, plus growing demand for services observed at a center for the surgery of cleft lip and cleft palate in Campeche state, led the authors to undertake research among the Maya residents of that region. However, neither careful review of case histories nor field research performed in several Indian communities could confirm the hypothesis of a higher incidence among this ethnic community. PMID:3272407

  8. [Cleft lip and palate in Campeche Mayas].

    PubMed

    Weiss, K M; Georges, E; Levy, B; Aguirre, A; Portilla, R J; Gaitán, C L; Leyva, E; Rodríguez, T

    1988-07-01

    It has been suggested that among American Indians, as in some genetically-related Asiatic ethnic groups, incidence of cleft lip and/or cleft palate is higher than among people of Caucasian extraction. Such hypothesis, plus growing demand for services observed at a center for the surgery of cleft lip and cleft palate in Campeche state, led the authors to undertake research among the Maya residents of that region. However, neither careful review of case histories nor field research performed in several Indian communities could confirm the hypothesis of a higher incidence among this ethnic community.

  9. Cleft Lip and Palate (For Parents)

    MedlinePlus

    ... and breathing, overbites/underbites, and appearance. Dental and Orthodontic Treatment Maintaining healthy teeth and preventing cavities is ... Kids with cleft lip and palate may begin orthodontic treatment as early as 6 years of age. ...

  10. [Laser navigation guided cleft lip repair].

    PubMed

    Bing, Shi

    2016-06-01

    A new method using the ideal mid-facial line as the navigating reference was introduced to improve the outcome of cleft lip repair. Using the verticle coordinate crossing the middle point of the intercanthus line, surgeons could observe and correct the distortion of the fine structures in labial-nasal area. This laser projecting mid-facial-line navigation was repeatable, while not interfere the operating. In conclusion, generalizing laser navigation is a valuable supplementary for cleft lip repair. PMID:27526442

  11. Dental anomalies inside the cleft region in individuals with nonsyndromic cleft lip with or without cleft palate

    PubMed Central

    Sá, Jamile; Araújo, Luana; Guimarães, Laís; Maranhão, Samário; Lopes, Gabriela; Medrado, Alena; Coletta, Ricardo

    2016-01-01

    Background Individuals with non syndromic cleft lip with or without cleft palate (NSCL±P) present high frequency of dental anomalies, which may represent complicating factors for dental treatment. The aim of this study was to investigate the prevalence of dental anomalies inside cleft area in a group of Brazilians with NSCL±P. Material and Methods Retrospective analysis of 178 panoramic radiographs of patients aged from 12 to 45 years old and without history of tooth extraction or orthodontic treatment was performed. Association between cleft type and the prevalence of dental anomalies was assessed by chi-square test with a significance level set at p≤ 0.05. Results Dental anomalies were found in 88.2% (n=157) of the patients. Tooth agenesis (47.1%), giroversion (20%) and microdontia (15.5%) were the most common anomalies. Individuals with unilateral complete cleft lip and palate (CLP, p<0.0001), bilateral complete CLP (p=0.0002) and bilateral incomplete CLP (p< 0.0001) were more affected by tooth agenesis than individuals with other cleft types. The maxillary lateral incisors were the most affected teeth (p<0.0001). Conclusions The present study revealed a high frequency of dental anomalies inside cleft region in NSCL±P patients, and further demonstrated that patients with unilateral complete CLP and bilateral incomplete CLP were frequently more affected by dental anomalies. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning of individuals affected by NSCL±P. Key words:Nonsyndromic cleft lip with or without palate, dental anomaly, tooth agenesis, microdontia. PMID:26615505

  12. Secondary repair of cleft lip deformity.

    PubMed

    Tessier, P; Tulasne, J F

    1984-10-01

    A considerable number of procedures have been described for secondary improvements of the lip. They involve the scars, the Cupid's bow, the philtrum, the alar base, the vestibulum and the columella. In fact, these procedures may give a good aesthetic result in a static position, but the truly successful results occur with normal movements. A normal motion of the lip is impossible without a proper dissection and reorientation of the muscles. Satisfactory lip motion cannot be realized with a defective alveolus or piriform aperture that retracts the alar base. Consequently, a good lip or nasal base cannot be achieved without bony restoration of the alveolus and piriform aperture. A transversely short lip never has normal mobility, and it must be widened by an Abbé flap. A tight, retruded lip on a retruded maxilla cannot be improved by a prosthetic vestibular plate because a greater tension will restrict movements. The lip must be advanced with the maxilla, then widened if necessary by an Abbé flap. A thick prolapsed lip never has normal movement; it must be raised by an infranasal excision. A cleft lip has nothing to gain from being displayed under a short nose, or, still worse, under a upturned nose. The nose must be kept long enough to cast a shadow on the lip. For the same reason, a bone graft is often necessary in bilateral clefts because the nose is short and retruded.

  13. Genetics of Cleft Lip and Cleft Palate

    PubMed Central

    Leslie, Elizabeth J.; Marazita, Mary L.

    2013-01-01

    Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with these birth defects and their family members: from subclinical phenotypes to associated syndromic features that is mirrored by the many genes that contribute to the etiology of these disorders. Identification of these genes and loci has been the result of decades of research using multiple genetic approaches. Significant progress has been made recently due to advances in sequencing and genotyping technologies, primarily through the use of whole exome sequencing and genome-wide association studies. Future progress will hinge on identifying functional variants, investigation of pathway and other interactions, and inclusion of phenotypic and ethnic diversity in studies. PMID:24124047

  14. Obtaining a good lip roll in congenital, secondary and traumatic cleft lip repairs.

    PubMed

    Chandran, Geethan; Lalonde, Donald H

    2013-01-01

    The present article includes a video designed to show the reader/viewer how to obtain a better lip roll in primary and secondary cleft lips as well as in traumatic cleft lips. The key is to not damage the delicate glands and fat in the lip roll. The actual surgery demonstrated in the video is a cleft lip redo with an effaced lip roll.

  15. Cleft lip and palate: diagnosis and management.

    PubMed

    Taib, Bilal G; Taib, Adnan G; Swift, Andrew C; van Eeden, Simon

    2015-10-01

    Cleft lip and palate is the most common congenital facial anomaly in children, which can affect appearance, speech, hearing, growth, psychosocial wellbeing and social integration. This article provides an overview of the condition for the benefit of all health-care professionals.

  16. Aesthetic considerations of the cleft lip operation.

    PubMed

    Onizuka, T; Keyama, A; Asada, K; Shinomiya, S; Aoyama, R

    1986-01-01

    The results of a cleft lip operation are checked from the anterior, the profile, and the caudal views and even if the deformities are minimal, for aesthetic reasons they should be repaired. Philtrum length, philtrum shape, philtrum depth, nasolabial triangular area, vermilion thickness, Cupid's bow peak, horizontal upper lip groove, vermilion border, alar size, depth of alar groove, nasal deviation, nostril shape, nasal tip, columella height, sill shape, columella width, and facial balance of the anterior, profile, and caudal views are used as aesthetic checkpoints for the results of a cleft lip operation. If deformities are found, the aesthetic plastic surgeon should repair them to achieve a more satisfactory result. In addition, augmentation rhinoplasty, augmentation mentoplasty, or other craniofacial surgery may be performed.

  17. C392T polymorphism of the Wnt10a gene in non-syndromic oral cleft in a northeastern Chinese population.

    PubMed

    Feng, Cuijuan; Duan, Weiyi; Zhang, Dan; Zhang, Enjiao; Xu, Zhongfei; Lu, Li

    2014-10-01

    Non-syndromic oral cleft is one of the most common congenital malformations, and more than 40 genes may be involved in its aetiology. Recent studies have shown that the Wnt10a gene may also contribute. We recruited 198 patients with non-syndromic oral clefts, comprising 96 elementary families (restricted to the patients and their parents) and 187 controls, to investigate their associations with the risk of such clefts and their subgroups in a Chinese Han population. The variant evaluated in this study was a single nucleotide polymorphism - specifically, a missense mutation C392T of Wnt10a. Polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) was used to genotype the marker, and case-control and family-based associations were analysed. Although in the case-control study there were no significant differences in frequency distributions of genotypes or alleles between cases and controls in the groups with cleft palate and cleft lip and palate, the genotypic and allelic frequencies of C392T in the total groups and the group with cleft lip alone differed significantly from those in the controls (p=0.04, and 0.01, respectively). A transmission disequilibrium test showed a transmitted disequilibrium in C392T. In conclusion, we found an association between the C392T variant and non-syndromic oral clefts. PMID:24957471

  18. Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition.

    ERIC Educational Resources Information Center

    McDonald, Eugene T.; Berlin, Asa J.

    Intended for parents of children with cleft lip and cleft palate, the booklet provides an overview of the condition. Addressed are the following topics (sample subtopics in parentheses): prenatal development and birth defects (facial development); possible causes of cleft lip/cleft palate (common misconceptions, genetic factors, environmental…

  19. Electromyographic analysis of lip muscle function in operated cleft subjects.

    PubMed

    Genaro, K F; Trindade Júnior, A S; Trindade, I E

    1994-01-01

    EMG activity of the upper lip was measured with bipolar surface electrodes during speech and nonspeech tasks in order to assess labial function in subjects with repaired clefts. Eighteen patients between 15 and 23 years of age with repaired unilateral cleft lip (isolated or combined with repaired cleft palate) were compared to 24 matched noncleft subjects. Data analysis demonstrated that the amplitude of action potentials of the upper lip was significantly greater in the cleft group. We hypothesize that the enhanced activity of the repaired upper lip during function may contribute to the facial growth abnormalities usually seen in the cleft population.

  20. Muencke syndrome with cleft lip and palate.

    PubMed

    Anderson, Peter J; Snell, Broughton; Moore, Mark H

    2013-07-01

    Muencke syndrome results from mutations in the FGFR3 gene, and although it is well recognized that the clinical presentation is variable, the important key finding includes coronal synostosis. We present a family where a mother with proven FGFR3 Pro250Arg mutation gave birth to identical twins both of whom had craniosynostosis but had coexisting bilateral cleft lip and palate. We believe that this is the first description of clefting occurring in conjunction with Muencke syndrome and so further extends the range of phenotypic variation that can occur in this syndrome. PMID:23851839

  1. Periodontal Status Among Patients With Cleft Lip (CL), Cleft Palate (CP) and Cleft Lip, Alveolus and Palate (CLAP) In Chennai, India. A Comparative Study

    PubMed Central

    John, Joseph

    2015-01-01

    Background: Long term health of the stomatognathic system as well as esthetic aspects is the therapeutic goals in patients with oro facial clefts. Aim: The aim of this study was to assess and compare the periodontal status of patients with cleft lip (CL), cleft palate (CP) and cleft lip, alveolus and palate (CLAP) reporting to a hospital in Chennai, India. Materials and Methods: The study group consisted of 80 cleft patients. Subjects were divided into three groups. Group 1: patients with cleft lip (CL), Group 2: subjects with cleft palate (CP) and Group 3: subjects with cleft lip alveolus and palate (CLAP). Community Periodontal Index for Treatment needs CPITN Index was recorded. Results: Among the 80 study subjects, 51 (63.8%) were males and 29 (36.2%) were females. Among the 26 study subjects with cleft lip, 10 (38.5%) had healthy periodontium, 4 (15.4%) had bleeding on probing and 12 (46.1%) had calculus. Mean number of sextants coded for healthy and bleeding was maximum among the subjects with cleft palate. Mean number of sextants coded for calculus was maximum among the subjects with cleft lip alveolus and palate. Prevalence of periodontal disease is high among patients with cleft lip, alveolus and palate (35%) than in Cleft lip (32.5%) and Cleft Palate (32.5%). Conclusion: Gingivitis and Calculus is predominantly high in patients with Cleft Palate and Cleft Lip respectively. PMID:25954706

  2. Feeding Techniques for Children Who Have Cleft Lip and Palate.

    ERIC Educational Resources Information Center

    Klein, Marsha Dunn

    This pamphlet on feeding techniques for children who have cleft lip and palate emphasizes the role of the parent as part of a team involving many specialists. The pamphlet begins with explanations of complete and incomplete separations of the lip, unilateral and bilateral cleft lips, corrective surgical procedures, etc. The importance of weight…

  3. Management of the cleft lip nasal deformity.

    PubMed

    Dutton, J M; Bumsted, R M

    2001-02-01

    Management of the cleft lip nasal deformity offers a unique and ongoing challenge in facial plastic surgery. Although there has been no consensus regarding the optimal timing and technique for surgical repair of this deformity, the authors have found a three-tiered approach to be satisfactory. This approach involves a primary rhinoplasty performed at the time of the initial cleft lip repair to address reconstruction of the nasal floor and sill, columellar lengthening, repositioning of the alar base, and repositioning of the skin and mucosa of the lower lateral cartilage. Following alveolar bone grafting, an intermediate rhinoplasty is often performed at 6 to 10 years of age through an open approach to correct the cartilaginous lower nasal deformity. A delayed rhinoplasty is then performed in the later teenage years to correct the bony dorsal deformity and the various causes of nasal obstruction.

  4. Cleft Lip and Cleft Palate--What to Know and Who Can Help

    ERIC Educational Resources Information Center

    Apel, Laura

    2008-01-01

    Craniofacial defects such as cleft lip and cleft palate are among the most common of all birth defects in the United States, with one in every 600 newborns affected. Cleft lip and/or palate can occur as an isolated condition or may be one component of an inherited disease or syndrome. Dealing with the condition is an extremely difficult and…

  5. Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature.

    PubMed

    Salahshourifar, Iman; Wan Sulaiman, Wan Azman; Halim, Ahmad Sukari; Zilfalil, Bin Alwi

    2012-06-01

    Non-syndromic oral clefts share the main clinical features of Van der Woude Syndrome (VWS), with the exception of the lower lip pit. Thus, about 15% of VWS cases are indistinguishable from cases with non-syndromic oral clefts. IRF6 mutations are the major cause of VWS; however, variants in this gene show strong association with non-syndromic oral clefts, with a higher increased risk among cases with cleft lip only (CLO). A total of 39 individuals, including 16 patients with CLO and 23 patients with a family history of cleft, were examined for IRF6 mutations in the present study. Seven variants, including five known (c.-75-4 A>; G, c.-73T>; C, c.459G>; T 5, c.820G>; A, and c.1060 + 37C>; T) and two novel (c.-75-23G>; C and c.1380G>; T), were found. Both novel variants were inherited from non-affected parents and we did not find also in the 120 control chromosomes. In silico analysis revealed that both c.1380G>; T and c.-75-23G>; C variants may disrupts a putative exonic splicing enhancer and intronic splicing binding site for SC35, respectively. Taken together, the presence of deleterious IRF6 variants in patients with non-syndromic oral clefts could be most likely an evidence for VWS. While, IRF6 variants could, at best, contribute to clefting as part of a complex inheritance pattern, with both additional genes and environmental factors having a role. PMID:22440537

  6. Cleft Lip Repair: The Hybrid Subunit Method.

    PubMed

    Tollefson, Travis T

    2016-04-01

    The unilateral cleft lip repair is one of the most rewarding and challenging of plastic surgery procedures. Surgeons have introduced a variety of straight line, geometric, and rotation-advancement designs, while in practice the majority of North American surgeons have been using hybrids of the rotation-advancement techniques. The anatomic subunit approach was introduced in 2005 by Fisher and has gained popularity, with early adopters of the design touting its simplicity and effectiveness. The objectives of this article are to summarize the basic tenets of respecting the philtral subunit, accurate measurement and planning, and tips for transitioning to this subunit approach.

  7. Cleft Lip Repair: The Hybrid Subunit Method.

    PubMed

    Tollefson, Travis T

    2016-04-01

    The unilateral cleft lip repair is one of the most rewarding and challenging of plastic surgery procedures. Surgeons have introduced a variety of straight line, geometric, and rotation-advancement designs, while in practice the majority of North American surgeons have been using hybrids of the rotation-advancement techniques. The anatomic subunit approach was introduced in 2005 by Fisher and has gained popularity, with early adopters of the design touting its simplicity and effectiveness. The objectives of this article are to summarize the basic tenets of respecting the philtral subunit, accurate measurement and planning, and tips for transitioning to this subunit approach. PMID:27097136

  8. A rare case of proboscis lateralis with median cleft lip.

    PubMed

    Sakamoto, Yoshiaki; Nakajima, Tatsuo; Miyamoto, Junpei

    2010-09-01

    A very rare case of proboscis lateralis is reported. This case is different from previously reported cases due to proboscis lateralis, single nostril, loss of columella, and median cleft lip without holoprosencephaly. In addition, this is considered the first surviving individual with proboscis lateralis accompanied by median cleft lip. PMID:20509764

  9. Psychological study of cleft palate children with or without cleft lip by kinetic family drawing.

    PubMed

    Kasuya, M; Sawaki, Y; Ohno, Y; Ueda, M

    2000-12-01

    To clarify how cleft palate children with or without cleft lip perceive their family, we applied the Kinetic Family Drawing (KFD) technique to 60 cleft palate children (with or without cleft lip). The children were aged 7-9 years (in the 1-3 grade of elementary school) and attended the Department of Oral Surgery, Nagoya University Hospital, between 1990 and 1997. Controls consisted of 100 normal elementary school children of the same age. Major findings were: (1) Compared with normal children, cleft lip and palate boys and cleft palate only girls drew their self-images significantly more often in region D (lower right) and in region A (upper left), respectively. (2) Cleft palate children with or without cleft lip felt anxiety and fear toward their family, rarely viewing their homes as a restful place; this suggested insecurity. Uniquely dynamic relations were also suggested in their homes. (3) Cleft palate children with or without cleft lip often perceived their father or mother as persons easily acceptable in society. Rather remote psychological distance between parents and cleft palate children with or without cleft lip was suggested.

  10. Unfavourable results in the repair of the cleft lip

    PubMed Central

    Narayanan, Puthucode V.; Adenwalla, Hirji Sorab

    2013-01-01

    Introduction: Unfavorable results in unilateral and bilateral cleft lip repair are often easy to spot but not always easy to prevent as to treat. We have tried to deal with the more common problems and explain possible causes and the best possible management options from our experience. Unilateral cleft lip repair: Unfavorable results immediately after repair involve Dehiscence and Scaring. Delayed blemishes include vermillion notching, a short lip, deficiency in the height of the lateral vermillion on the cleft side, white roll malalignment, oro-vestibular fistula, the cleft lip nose deformity, a narrow nostril and a “high-riding” nostril. We analyze the causes of these blemishes and outline our views regarding the treatment of these. Bilateral cleft lip: Immediate problems again include dehiscence as also loss of prolabium or premaxilla. Delayed unfavorable results are central vermillion deficiency, a lip that is too tight, bilateral cleft lip nose deformity, problems with the premaxilla and maxillary growth disturbances. Here again we discuss the causation of these problems and our preferred methods of treatment. Conclusion: We have detailed the significant unfavorable results after unilateral and bilateral cleft lip surgery. The methods of treatment advocated have been layer from our own experience. PMID:24501453

  11. Cleft lip and palate genetics and application in early embryological development

    PubMed Central

    Yu, Wenli; Serrano, Maria; Miguel, Symone San; Ruest, L. Bruno; Svoboda, Kathy K.H.

    2009-01-01

    The development of the head involves the interaction of several cell populations and coordination of cell signalling pathways, which when disrupted can cause defects such as facial clefts. This review concentrates on genetic contributions to facial clefts with and without cleft palate (CP). An overview of early palatal development with emphasis on muscle and bone development is blended with the effects of environmental insults and known genetic mutations that impact human palatal development. An extensive table of known genes in syndromic and non-syndromic CP, with or without cleft lip (CL), is provided. We have also included some genes that have been identified in environmental risk factors for CP/L. We include primary and review references on this topic. PMID:19884679

  12. Cleft lip and palate genetics and application in early embryological development.

    PubMed

    Yu, Wenli; Serrano, Maria; Miguel, Symone San; Ruest, L Bruno; Svoboda, Kathy K H

    2009-10-01

    The development of the head involves the interaction of several cell populations and coordination of cell signalling pathways, which when disrupted can cause defects such as facial clefts. This review concentrates on genetic contributions to facial clefts with and without cleft palate (CP). An overview of early palatal development with emphasis on muscle and bone development is blended with the effects of environmental insults and known genetic mutations that impact human palatal development. An extensive table of known genes in syndromic and non-syndromic CP, with or without cleft lip (CL), is provided. We have also included some genes that have been identified in environmental risk factors for CP/L. We include primary and review references on this topic.

  13. Psychiatric Diagnoses in Individuals with Non-Syndromic Oral Clefts: A Danish Population-Based Cohort Study

    PubMed Central

    Pedersen, Dorthe Almind; Wehby, George L.; Murray, Jeffrey C.; Christensen, Kaare

    2016-01-01

    Background The aim of this study was to investigate the risk of psychiatric diagnoses in individuals with non-syndromic oral clefts (OC) compared with individuals without OC, including ages from 1 to 76 years. Methods Linking four Danish nationwide registers, we investigated the risk of psychiatric diagnoses at Danish psychiatric hospitals during the period 1969–2012 for individuals born with non-syndromic OC in Denmark 1936–2009 compared with a cohort of 10 individuals without OC per individual with OC, matched by sex and birth year. The sample included 8,568 individuals with OC, observed for 247,821 person-years, and 85,653 individuals without OC followed for 2,501,129 person-years. Results A total of 953 (11.1%) of the individuals with OC (9.6% for cleft lip (CL), 10.8% for cleft lip and palate (CLP) and 13.1% for cleft palate (CP)) and 8,117 (9.5%) in the comparison group had at least one psychiatric diagnosis. Cox proportional hazard regression model revealed that individuals with OC had significantly higher risk of a psychiatric diagnosis (hazard ratio (HR) = 1.19, 95% CI: 1.12–1.28). When examining cleft type, no difference was found for CL (HR = 1.03, 95% CI: 0.90–1.17), but CLP was associated with a small increased risk (HR = 1.13, 95% CI: 1.01–1.26), whereas individuals with CP had the largest increased risk (HR = 1.45, 95% CI: 1.30–1.62). The largest differences were found in schizophrenia-like disorders, mental retardation and pervasive developmental disorders, but we found no increased risk of mood disorders and anxiety-related disorders. Conclusion Individuals with non-syndromic OC had significantly higher risk of psychiatric diagnoses compared with individuals without OC. However, the elevated risk was observed for individuals with CLP and CP but not for individuals with CL and the absolute risk increase was modest. PMID:27223812

  14. Clinical Features and Management of a Median Cleft Lip

    PubMed Central

    Kim, Do Yeon; Oh, Tae Suk

    2016-01-01

    Background Median cleft lip is a rare anomaly consisting of a midline vertical cleft through the upper lip. It can also involve the premaxillary bone, the nasal septum, and the central nervous system. In our current report, we present the clinical features of 6 patients with a median cleft lip and their surgical management according to the accompanying anomalies. Methods From December 2010 to January 2014, 6 patients with a median cleft lip were reviewed. Five of these cases underwent surgical correction; alveolar bone grafting was performed in a patient with a median alveolar cleft. The surgical technique included inverted-U excision of the upper lip and repair of the orbicularis oris muscle. The mean follow-up period was 20.4 months (range, 7.4–44.0 months). Results The study patients presented various anomalous features. Five patients received surgical correction, 4 with repair of the median cleft lip, and one with iliac bone grafting for median alveolar cleft. A patient with basal sphenoethmoidal meningocele was managed with transoral endoscopic surgery for repair of the meningocele. Successful surgical repair was achieved in all cases with no postoperative complications. Conclusions Relatively mild forms of median cleft lip can be corrected with inverted-U excision with good aesthetic outcomes. In addition, there is a broad spectrum of clinical features and various anomalies, such as nasal deformity, alveolar cleft, and short upper frenulum, which require close evaluation. The timing of the operation should be decided considering the presence of other anomalies that can threaten patient survival. PMID:27218021

  15. Effect of cleft lip palate repair on craniofacial growth

    PubMed Central

    Naqvi, Zuber Ahamed; Shivalinga, BM; Ravi, S; Munawwar, Syeda Sarah

    2015-01-01

    Objective: The aim of this cross-sectional study was to compare craniofacial growth among operated and unoperated unilateral cleft lip and palate non-syndromic subjects. Materials and Methods: A sample of 180 subjects of Indian origin was selected. Of them, 90 were operated, and 90 were unoperated complete unilateral cleft lip and palate individuals. The subjects were divided into three age groups of 3–5, 8–10, and 20–25 years comprised of 30 patients in each group. The following measurements were evaluated: Angle and length of the cranial base; maxillary spatial positioning and length; mandibular spatial positioning; morphology and length; maxillomandibular relationship. Comparative analysis of the means between the groups was performed with Student's t-test at the significance levels of 5%. The ANOVA test has been performed to test the effect of time. Results: No significant differences were observed between the measurements that represented the angle and length of the cranial base of unoperated and the operated patients (P>0.05). There was statistically significant decrease (P˂0.05) in the maxillary length (Co-A; 69.00 mm in 3–5 years, 68.33 mm in 8–10 years, and 67.17 mm in 20–25 years age group), and SNA angle (74.83° in 3–5 years, 74.17 ° in 8–10 years and 73.17 ° in 20–25 years age group) in operated group. No significant difference noticed on cephalometric values of the mandible, except Ar-Go-Me angle (P˂0.05), which showed vertical growth pattern in unoperated patients (132.50 ° in 3–5 years, 132.00 ° I 8–10 years and 138.33 ° in 20–25 years age group). Conclusion: Lip and palate repair has a significant influence on the maxilla and resulting in retarded growth of maxilla, which causes midface deficiency beyond acceptable sagittal limits. The Gonial angle showed vertical growth pattern in unoperated patients, but the cranial base angle and length of unoperated and the operated patients were similar. PMID:26229945

  16. Comparative Evaluation of Prevalence of Upper Cervical Vertebrae Anomalies in Cleft Lip/Palate Patients: A Retrospective Study

    PubMed Central

    Datana, Sanjeev; Kumar, Prasanna; Kumar Roy, Supriya; Londhe, Sanjay

    2014-01-01

    ABSTRACT% Purpose: The patients with cleft lip and palate have a higher risk of cervical vertebrae anomalies than do patients in general population. The aim of present study was to determine the prevalence of various upper cervical spine anomalies in different type of clefts. Procedures: Lateral cephalograms of 128 patients (66 males, 62 females) with cleft lip and palate, and 125 (60 males, 65 females) non syndromic patients without cleft lip and palate were selected at random from archive. Cephalograms of the patients were traced and the diagnosis of any cervical vertebrae anomaly was noted. Anomalies were categorized as either: posterior arch deficiency or fusions. Main findings: Prevalence of cervical vertebrae anomalies in the c lef t group was 20. 3% while it was 6.4% in the control group. Further cervical vertebrae anomalies were 16.6% in the CPO group, 19.1% in the BCLP group, and 22.2% in the UCLP group. Conclusion: A higher prevalence of cervical vertebrae anomalies was observed in cleft lip and palate patients. The prevalenc e obser ved is 3 times more in clef t group than c ontrol group. How to cite this article: Datana S, Bhalla A, Kumar P, Roy SK, Londhe S. Comparative Evaluation of Prevalence of Upper Cervical Vertebrae Anomalies in Cleft Lip/Palate Patients: A Retrospective Study. Int J Clin Pediatr Dent 2014;7(3):168-171. PMID:25709295

  17. Spectrographic measures of the speech of young children with cleft lip and cleft palate.

    PubMed

    Casal, C; Domínguez, C; Fernández, A; Sarget, R; Martínez-Celdrán, E; Sentís-Vilalta, J; Gay-Escoda, C

    2002-01-01

    Twenty-two consecutive children with repaired cleft lip and/or palate [isolated cleft lip (CL) 6, isolated cleft palate (CP) 7, unilateral cleft lip and palate (UCLP) 7, and bilateral cleft lip and palate 2] with a mean age of 27 months underwent spectrographic measures of tape-recorded speech (DSP Sona-Graph digital unit). Controls were 22 age- and sex-matched noncleft children. Data analyzed included (1) the Spanish vocalic variables [a, i, u, e, o]: first formant, second formant, duration, and context; (2) obstruent variables [p, t, k]: burst, voice onset time, and duration, and (3) nasal variables [m]: first formant, second formant, and duration. Statistically significant differences were observed between the CL group and the control group in the first formant of [e] and in the increase of the frequency of the [t] burst. Comparison between UCLP and controls showed differences in the second formant of [a], in the first formant of [o], and in the second formant of [o]. These results suggest a small but significant influence of either the cleft lip or its repair on lip rounding for [o] and [u]. In addition, tongue position differences were most likely responsible for the differences seen with [a] and [e]. Spectrographic differences in the current patients did not contribute to meaningful differences in speech sound development. Individualized care (orthodontics, surgery, speech therapy) in children with cleft lip and/or palate attended at specialized craniofacial units contributes to normalization of speech development. PMID:12378036

  18. Presurgical nasoalveolar moulding in unilateral cleft lip and palate

    PubMed Central

    Zuhaib, Mohammed; Bonanthaya, Krishnamurthy; Parmar, Renu; Shetty, Pritham N.; Sharma, Pradeep

    2016-01-01

    Context: Presurgical nasoalveolar moulding (PNAM) is a non-surgical method of reshaping the cleft lip, alveolus, palate and the nose to minimize the severity of the cleft deformity, before primary cheiloplastyand palatoplasty. In this context, PNAM proves to be an invaluable asset in the management of unilateral cleft lip and palate. Aims: The study was conducted to evaluate the efficacy of PNAM in the management of unilateral cleft lip and palate with the following objectives: (1) To assess and compare the degree of reduction in the size of cleft palate and alveolus (pre-PNAM and post-PNAM). (2) To evaluate and compare the improvement in columellar length and correction of columellar deviation (pre-PNAM and post-PNAM). (3) To assess the changes in the position of the alar base and the alar cartilages. Settings and Design: Prospective study. Subjects and Methods: A prospective study consisting of, which included 20 patients with complete unilateral cleft lip and palate was conducted. The age at the start of PNAM treatment of the infants ranged from 2 to 44 days of age reporting to our institute between December 2011 and August 2013. All the patients underwent PNAM therapy before primary cheiloplasty at 6 months of age; clinical parameters were assessed pre- and post-therapy using photographs and dental study models of the maxilla. Statistical Analysis Used: Student's t-test for paired comparisons. Results: Results of the study showed a promising reduction in the cleft size before the surgery, significant improvement in nasal symmetry, including the columellar length on the cleft side. Conclusions: PNAM is a valuable adjunct to our surgical armamentarium in dealing with the challenges of primary closure of unilateral cleft lip and palate thereby enhancing the overall surgical outcome. The advantages of this method include the simplicity of the procedure and improving the quality of surgical repair, particularly in obtaining tension free muscle closure in unilateral

  19. Bilateral optic disc pit with maculopathy in a patient with cleft lip and cleft palate

    PubMed Central

    Seth, Anisha; Gupta, Rajat; Gupta, Anika; Raina, Usha K; Ghosh, Basudeb

    2015-01-01

    Optic disc pit (ODP) is small, gray-white, oval depression found at the optic nerve head. It is a congenital defect that occurs due to imperfect closure of superior edge of the embryonic fissure. Cleft lip and palate are also congenital midline abnormalities occurring due to defect in the fusion of frontonasal prominence, maxillary prominence and mandibular prominence. There is only one case report describing the occurrence of ODP in a young patient with cleft lip and palate who also had basal encephalocele. We describe a 52-year-old patient with congenital cleft lip and palate with bilateral ODP with maculopathy but without any other midline abnormality. PMID:26044478

  20. Vocalizations of toddlers with cleft lip and palate.

    PubMed

    Chapman, K L

    1991-04-01

    This study examined the early vocalizations of toddlers with cleft lip and palate. Ten toddlers, ranging in age from 12 to 14 months, served as subjects: five toddlers with cleft lip and palate and five noncleft toddlers. Samples of the toddler's spontaneous vocalizations were obtained while they interacted with their mothers during an unstructured play session. All speech-like vocalizations were transcribed, and comparisons were made between the cleft and noncleft groups for (1) size of consonant inventory, (2) type and frequency of occurrence of consonants, and (3) frequency and type of multisyllabic productions. Results indicated differences in the consonant inventories and multisyllabic productions of the two groups of toddlers.

  1. Presurgical nasoalveolar molding in unilateral cleft lip and palate

    PubMed Central

    Hegde, Rahul J.; Kharkar, Viraj R.; Kamath, Shamika

    2015-01-01

    Unilateral cleft lip and palate (UCLP) patients have an esthetic and functional compromise of the middle third of the face and nasal structures. To improve the esthetic result of lip repair, the concept of presurgical nasoalveolar molding (PNAM) was brought into conception. PNAM is an easy and passive method of bringing the alveolus and lips together by redirecting the forces of natural growth. This case report documents a 2-year follow-up of PNAM in UCLP. PMID:26681868

  2. Ankyloglossia with cleft lip: A rare case report

    PubMed Central

    Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

    2015-01-01

    Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

  3. Ankyloglossia with cleft lip: A rare case report.

    PubMed

    Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

    2015-01-01

    Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

  4. Ankyloglossia with cleft lip: A rare case report.

    PubMed

    Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

    2015-01-01

    Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development.

  5. Assessing Angle's malocclusion among cleft lip and/or palate patients in Jammu

    PubMed Central

    Gupta, Akshay; Gupta, Anur; Bhardwaj, Amit; Vikram, S.; Gomathi, Ajeetha; Singh, Karanprakash

    2016-01-01

    Objective: The study was conducted to examine the patients with abnormalities of cleft lip and/or palate and its association with different types of malocclusion. Materials and Methods: This descriptive study was done among 168 patients with abnormalities of cleft lip and/or palate. Angle's classification of malocclusion was applied for assessment of occlusion as Class I, Class II, and Class III. The types of oral clefts classification such as cleft lip unilateral and cleft lip bilateral, cleft palate (CP), unilateral cleft lip with palate (UCLP) and bilateral cleft lip with palate (BCLP) was considered. Chi-square test was applied to analyze the data at P < 0.05. Results: The study showed different categories of clefts patients as cleft lip (81), CP (31), and both cleft lip and palate (53). The occurrence of unilateral cleft lip (44) was maximum among the sample followed by UCLP (39), and bilateral cleft lip (31). Maximum subjects with Class II (10.7%) and Class III (4.9%) malocclusion were seen with unilateral cleft lip deformities. None of the patients with UCLP had Class III malocclusion. Conclusion: Cleft lip was the most commonly observed deformity and high frequency of Class II and III malocclusion was evident. Therefore, patients with such abnormalities should be screened timely. PMID:27195223

  6. Association of AXIN2 with Non-syndromic Oral Clefts in Multiple Populations

    PubMed Central

    Letra, A.; Bjork, B.; Cooper, M.E.; Szabo-Rogers, H.; Deleyiannis, F.W.B.; Field, L.L.; Czeizel, A.E.; Ma, L.; Garlet, G.P.; Poletta, F.A.; Mereb, J.C.; Lopez-Camelo, J.S.; Castilla, E.E.; Orioli, I.M.; Wendell, S.; Blanton, S.H.; Liu, K.; Hecht, J.T.; Marazita, M.L.; Vieira, A.R.; Silva, R.M.

    2012-01-01

    We have previously shown the association of AXIN2 with oral clefts in a US population. Here, we expanded our study to explore the association of 11 AXIN2 markers in 682 cleft families from multiple populations. Alleles for each AXIN2 marker were tested for transmission distortion with clefts by means of the Family-based Association Test. We observed an association with SNP rs7224837 and all clefts in the combined populations (p = 0.001), and with SNP rs3923086 and cleft lip and palate in Asian populations (p = 0.004). We confirmed our association findings in an additional 528 cleft families from the United States (p < 0.009). We tested for gene-gene interaction between AXIN2 and additional cleft susceptibility loci. We assessed and detected Axin2 mRNA and protein expression during murine palatogenesis. In addition, we also observed co-localization of Axin2 with Irf6 proteins, particularly in the epithelium. Our results continue to support a role for AXIN2 in the etiology of human clefting. Additional studies should be performed to improve our understanding of the biological mechanisms linking AXIN2 to oral clefts. PMID:22370446

  7. Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population

    SciTech Connect

    Jara, L.; Blanco, R.; Chiffelle, I.

    1995-07-17

    Two RFLPs at the TGFA locus were studied in 39 unrelated Chilean (Caucasoid-Mongoloid) patients with non-syndromic cleft lip/palate [CL(P)] and 51 control individuals. A highly significant association between BamHI A2 allele and CL(P) was detected ({chi}{sub 2} = 6.00; P = 0.014), while no association was found between TaqI RFLPs and clefting. No significant differences were found when comparing genotypes by type of cleft and a positive or negative family history of clefting. Our results seem to support rather definitively the association between TGFA and clefting but not support the hypothesis that TGFA is a major causal gene of CL(P). 29 refs., 5 tabs.

  8. The association between dental arch dimensions and occurrence of Finnish dental consonant misarticulations in cleft lip/palate children.

    PubMed

    Laitinen, J; Ranta, R; Pulkkinen, J; Haapanen, M L

    1998-10-01

    The aim of this study was to examine whether maxillary and mandibular dental arch width, length, and palatal height dimensions are associated with the occurrence of misarticulations (phonetic or phonologic errors) in the dental consonants /r/, /s/, and /1/ in different cleft types and sexes. The subjects were 263 (109 girls, 154 boys) 6-year-old Finnish-speaking non-syndromic children with isolated cleft palate (CP, n=79), deft lip/alveolus (CL(A), n=77), unilateral (UCLP, n=80), and bilateral (BCLP, n=27) cleft lip and palate. Dental plaster casts were measured by two authors using the technique of Moorrees, and auditive speech was analyzed with high reliability by two speech pathologists. The results showed that the occurrence of misarticulations increased and dental arch dimensions decreased with the severity of the cleft. Narrower and shorter maxillary arches as well as shallower palates were related to problems with the studied dental consonants. Mandibular arch dimensions were not related to the misarticulations. However, statistical analysis did not reveal significant differences in dental arch dimensions between subjects with and without misarticulations when they were compared separately for different cleft types. The etiology of clefting per se--isolated deft palate versus cleft lip with or without deft palate--did not seem to explain the associations between dental arch dimensions and the studied misarticulations.

  9. Whorl Patterns on the Lower Lip are Associated with Nonsyndromic Cleft Lip with or without Cleft Palate

    PubMed Central

    Neiswanger, Katherine; Chirigos, Kevin W.; Klotz, Cherise M.; Cooper, Margaret E.; Bardi, Kathleen M.; Brandon, Carla A.; Weinberg, Seth M.; Vieira, Alexandre R.; Martin, Rick A.; Czeizel, Andrew E.; Castilla, Eduardo E.; Poletta, Fernando A.; Marazita, Mary L.

    2009-01-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect due to both genetic and environmental factors. Whorl lip print patterns are circular grooves on the central upper lip and/or the left and right lower lip. To determine if whorls are more common in families with CL/P than in controls, the Pittsburgh Orofacial Cleft Study collected lip prints from over 450 subjects, i.e., individuals with CL/P, their relatives, and unrelated controls—from the U.S., Argentina, and Hungary. Using a narrow definition of lower-lip whorl, the frequency of whorls in the U.S sample was significantly elevated in cleft individuals and their family members, compared to unrelated controls (14.8% and 13.2% versus 2.3%; P = 0.003 and 0.001, respectively). Whorls were more frequent in CL/P families from Argentina than in CL/P families from the U.S. or Hungary. If these results are confirmed, whorl lip print patterns could be part of an expanded phenotypic spectrum of nonsyndromic CL/P. As such, they may eventually be useful in a clinical setting, allowing recurrence risk calculations to incorporate individual phenotypic information in addition to family history data. PMID:19921634

  10. Passive Smoking in the Etiology of Non-Syndromic Orofacial Clefts: A Systematic Review and Meta-Analysis

    PubMed Central

    Sabbagh, Heba J.; Hassan, Mona Hassan Ahmed; Innes, Nicola P. T.; Elkodary, Heba M.; Little, Julian; Mossey, Peter A.

    2015-01-01

    Background Studies have found a consistent positive association between maternal smoking and non-syndromic orofacial clefts (NSOFC). However, no comprehensive assessment of the association between NSOFC and passive smoking has been undertaken. This systematic review and meta-analysis explores the relationship between maternal passive smoking and NSOFC, and compares the associations between passive and active smoking. Methods and Findings Search strategy, inclusion / exclusion criteria, and data extraction from studies reporting maternal passive smoking and NSOFC was implemented without language restrictions. Risks of bias in the identified studies were assessed and this information was used in sensitivity analyses to explain heterogeneity. Meta-analysis and meta-regression of the extracted data were performed. Egger's test was used to test for small study effects. Fourteen eligible articles were identified. Maternal passive smoking exposure was associated with a twofold increase in risk of NSOFC (odds ratio: 2.11, 95% confidence interval: 1.54–2.89); this was apparent for both cleft lip with and without palate (OR: 2.05, 95% CI: 1.27–3.3) and cleft palate (OR: 2.11, 95% CI: 1.23–3.62). There was substantial heterogeneity between studies. In the studies that provided data enabling crude and adjusted odd ratios to be compared, adjustment for potential confounders attenuated the magnitude of association to about a 1.5-fold increase in risk. Conclusion Overall, maternal passive smoking exposure results in a 1.5 fold increase in risk of NSOFC, similar to the magnitude of risk reported for active smoking, but there is marked heterogeneity between studies. This heterogeneity is not explained by differences in the distribution of cleft types, adjustment for covariates, broad geographic region, or study bias/quality. This thorough meta-analysis provides further evidence to minimize exposure to environmental tobacco smoke in policy making fora and in health promotion

  11. Structure and Function of the Superior Temporal Plane in Adult Males with Cleft Lip and Palate: Pathologic Enlargement with No Relationship to Childhood Hearing Deficits

    ERIC Educational Resources Information Center

    Shriver, A. S.; Canady, J.; Richman, L.; Andreasen, N. C.; Nopoulos, P.

    2006-01-01

    Background: In a previous study from our lab, adult males with non-syndromic cleft lip and/or palate (NSCLP) were shown to have significantly lower temporal lobe gray matter volume than matched controls. The current study was designed to begin a regional analysis of specific subregions of the temporal lobe. The superior temporal plane (STP) is a…

  12. [Cleft lip and palate--prenatal diagnosis and counseling].

    PubMed

    Hrusková, H; Calda, P; Zizka, Z; Krofta, L; Baxová, A; Zidovská, J; Kapras, J; Zivný, J

    1998-10-01

    The most frequent congenital developmental defect in the orofacial region are, no doubt, facial clefts which are a serious stress for health professionals and the population. Depending on the type of cleft, the prevalence is between 1 : 1000-2800 births. According to contemporary views in the etiology of orofacial clefts participate genetic as well as environmental factors. That means that specific genetic factors create a certain "sensitivity" for specific factors of the external environment which act as a trigger mechanism and combined they produce the cleft. Cleft lip can be diagnosed already during the 13th week of gestation, while a cleft palate is not necessarily apparent till after the 18th week of gestation as the maxilla is in the process of joining. Presentation of the foetal face and its profile is thus important in particular during the second trimester of gestation and should be part of ultrasonographic screening between the 18th and 20th week of gestation. As more than 8% of facial clefts are associated with chromosomal abnormalities, in all affected foetuses karyotyping is done. The prognosis of satisfactory cosmetic and functional repair in cleft lip and in cleft lip and palate is favourable. In case of associated malformations all depends on the type and severity of these associated defects or on the diagnosis of the syndrome. If median clefts are extensive or associated with cerebral anomalies, the prognosis is as a rule poor. Prenatal diagnosis and management of defects of the orofacial area calls for collaboration of the obstetrician, neonatologist and plastic surgeon already in the stage when the defect is detected to give the expectant mother an opportunity to obtain accurate and unbiased information on possible treatment and prognosis for the foetus. PMID:9818495

  13. [Cleft lip and palate: case-control study].

    PubMed

    Loffredo, L de C; de Souza, J M; Yunes, J; Freitas, J A; Spiri, W C

    1994-06-01

    This study relates to a case-control analysis for the purpose of verifying the association between oral clefts and possible risk factors. The analysed variables were: place of mother's residence (urban/rural), pollution, parental diseases, mother's diseases during the first four months of pregnancy, intake of drugs related to this period, heredity, smoking habits, alcohol consumption and X-ray examinations during pregnancy or X-ray examinations prior to pregnancy. There were 450 cases of clefts of whom 354 had a cleft lip with or without cleft palate and 96 had a cleft palate. The relative risk (RR) for each variable by was estimated points and at a 95% of confidence interval and multivariate analysis was applied. As regards cleft lip with or without cleft palate, the risk factors are heredity (RR = 4.96), epilepsy in the mother (RR = 2.39) and the intake of drugs such as anti-inflammatory substance in the first four months of pregnancy (RR = 2.59). Related to cleft palate, the risk factors are heredity (RR = 2.82) and pollution (RR = 2.58).

  14. Common Dental Anomalies in Cleft Lip and Palate Patients

    PubMed Central

    HAQUE, Sanjida; ALAM, Mohammad Khursheed

    2015-01-01

    Background: Cleft lip and palate (CLP) is the most common orofacial congenital malformation in live births. CLP can occur individually or in combination with other congenital deformities. Affected patients experience a number of dental, aesthetic, speech, hearing, and psychological complications and have a higher incidence of severe dental conditions. The purpose of this study is to characterise the different types of dental anomalies that are frequently associated with CLP patients based on a literature survey. Methods: By literature survey, this study characterises the different types of dental anomalies that are frequently associated with cleft lip and palate patients. Results: Common dental anomalies associated with CLP are supernumerary tooth, congenitally missing tooth, delayed tooth development, morphological anomalies in both deciduous and permanent dentition, delayed eruption of permanent maxillary incisors, microdontia, and abnormal tooth number. Conclusion: The incidence of certain dental anomalies is strongly correlated with Cleft lip and palate, a finding that is consistent with previous studies. PMID:26023296

  15. Unilateral cleft lip and palate: Simultaneous early repair of the nose, anterior palate and lip

    PubMed Central

    Laberge, Louise Caouette

    2007-01-01

    Unilateral cleft lip and palate is a defect involving the lip, nose and maxilla. These structures are inter-related, and simultaneous early correction of all the aspects of the defect is necessary to obtain a satisfactory result that will be maintained with growth. The surgical technique combining various procedures is presented and compared with previously published reports. PMID:19554125

  16. Contemporary Concepts for the Bilateral Cleft Lip and Nasal Repair

    PubMed Central

    Khosla, Rohit K.; McGregor, Jyoti; Kelley, Patrick K.; Gruss, Joseph S.

    2012-01-01

    The bilateral cleft lip and nasal deformity presents a complex challenge for repair. Surgical techniques continue to evolve and are focused on primary anatomic realignment of the tissues. This can be accomplished in a single-stage or two-stage repair early in infancy to provide a foundation for future growth of the lip and nasal tissue. Most cleft surgeons currently perform a single-stage repair for simplifying patient care. Certain institutions utilize presurgical orthopedics for alignment of the maxillary segments and nasal shaping. Methods for the bilateral cleft lip repair are combined with various open and closed rhinoplasty techniques to achieve improved correction of the primary nasal deformity. There is recent focus on shaping the nose for columellar and tip support, as well as alar contour and alar base position. The authors will present a new technique for closure of the nasal floor to prevent the alveolar cleft fistula. Although the alveolar fistula is closed, alveolar bone grafting is still required at the usual time in dental development to fuse the maxilla. It is paramount to try and minimize the stigmata of secondary deformities that historically have been characteristic of the repaired bilateral cleft lip. A properly planned and executed repair reduces the number of revisions and can spare a child from living with secondary deformities. PMID:24179448

  17. Harvey Cushing's Contributions to Plastic Surgery: Bilateral Cleft Lip Repair.

    PubMed

    Molendijk, Josher; Pendleton, Courtney; Rachwalski, Martin; Quinones-Hinojosa, Alfredo; Dorafshar, Amir H

    2014-01-01

    Harvey Cushing has been deemed by many as the neurosurgeon of the 20th century. Cushing's unknown contributions to the field of plastic and reconstructive surgery were only recently reported. Further review of his teaching and operative records, brought from Johns Hopkins to Yale University, revealed an unpublished case of bilateral cleft lip repair that he performed. In this article, we present in detail this comprehensive case and describe, with the help of his personal teaching notes and illustrations, how Cushing combined methods from world-renowned surgeons to approach bilateral cleft lip deformities. PMID:23551074

  18. Cleft lip and palate in a Brazilian subpopulation

    PubMed Central

    Cuozzo, Fernanda Dornelles Martins; Espinosa, Mariano Martínez; da Silva, Katia Tavares Serafim; de Barros, Yolanda Benedita Abadia Martins; Bandeca, Matheus Coelho; Aranha, Andreza Maria Fabio; Borges, Alvaro Henrique; Volpato, Luiz Evaristo Ricci

    2013-01-01

    Background: This work aimed to access the profile of cleft lip and palate patients of a sub-population in Mid-West Brazil. Materials & Methods: Research was carried out through a cross-sectional study at the Craniofacial Rehabilitation Center of the University General Hospital of the University of Cuiabá, Mato Grosso, Brazil. Variables related to oral cleft type, gender, race, age and presence or absence of associated congenital anomalies or syndromes were analyzed. Results: 313 patients treated at the institution from 2004 to 2007 were recruited. There were 54% male and 46% female patients with the mean age of 11.4 years. Cleft lip and palate was the most prevalent alteration in 49.6% of cases. Caucasians were the most affected in 54.6% of cases. 6.4% of patients had other anomalies or syndromes associated with cleft. Conclusion: More comprehensive surveys should be conducted in order to supply the lack of data on the occurrence and determinants of oral clefts in this region. How to cite this article:Cuozzo FD, Espinosa MM, Serafim da Silva KT, Martins de Barros YB, Bandeca MC, Aranha AM, Borges AH, Volpato LE. Cleft lip and palate in a Brazilian subpopulation. J Int Oral Health 2013; 5(4):15-20. PMID:24155614

  19. Quantitative assessment of healthy and reconstructed cleft lip using ultrasonography

    PubMed Central

    Devadiga, Sumana; Desai, Anil Kumar; Joshi, Shamsunder; Gopalakrishnan, K.

    2016-01-01

    Purpose: This study is conducted to investigate the feasibility of echographic imaging of tissue thickness of healthy and reconstructed cleft lip. Design: Prospective study. Materials and Methods: The study was conducted in SDM Craniofacial Unit, Dharwad and was approved by Local Institutional Review Board. A total of 30 patients, age group ranging from 4 to 25 years, of which 15 postoperative unilateral cleft lip constituted the test group. The remaining 15 with no cleft deformities, no gross facial asymmetry, constituted the control group. The thickness of the mucosa, submucosa, muscle and full thickness of the upper lip were measured with the transversal images using ultrasonography at midpoint of philtrum, right and left side philtral ridges and vermillion border, at 1, 3, 6 months interval. Results: There was an increase in muscle thickness at the vermillion border (mean = 6.9 mm) and philtral ridge (5.9 mm). Equal muscle thickness were found between the normal and test group at 6 months follow-up in a relaxed position, which was statistically significant (P = 0.0404). Conclusion: Quantitative assessment of thickness and echo levels of various lip tissues are done with proper echographic calibration. Diagnostic potentials of this method for noninvasive evaluation of cleft lip reconstructions were achieved by this study. PMID:27134448

  20. Protocols in Cleft Lip and Palate Treatment: Systematic Review

    PubMed Central

    de Ladeira, Pedro Ribeiro Soares; Alonso, Nivaldo

    2012-01-01

    Objectives. To find clinical decisions on cleft treatment based on randomized controlled trials (RCTs). Method. Searches were made in PubMed, Embase, and Cochrane Library on cleft lip and/or palate. From the 170 articles found in the searches, 28 were considered adequate to guide clinical practice. Results. A scarce number of RCTs were found approaching cleft treatment. The experimental clinical approaches analyzed in the 28 articles were infant orthopedics, rectal acetaminophen, palatal block with bupivacaine, infraorbital nerve block with bupivacaine, osteogenesis distraction, intravenous dexamethasone sodium phosphate, and alveoloplasty with bone morphogenetic protein-2 (BMP-2). Conclusions. Few randomized controlled trials were found approaching cleft treatment, and fewer related to surgical repair of this deformity. So there is a need for more multicenter collaborations, mainly on surgical area, to reduce the variety of treatment modalities and to ensure that the cleft patient receives an evidence-based clinical practice. PMID:23213503

  1. Occipital meningoencephalocele with Cleft Lip, Cleft Palate and Limb Abnormalities- A Case Report.

    PubMed

    Ganapathy, Arthi; T, Sadeesh; Swer, Mary Hydrina; Rao, Sudha

    2014-12-01

    A 21-week-old still born female fetus with occipital encepholocele, cleft lip and cleft palate was received from the Department of Obstetrics and Gynecology, Mahatma Gandhi Medical College and Research Institute, Pondicherry and was studied in detail. It was born to Primigravida, of a second degree consanguineous marriage, with unremarkable family history. The biometric measurements were noted which corresponded to the age of the fetus. Further the fetus was embalmed and dissected. On examination an encephalocele of 2.7×1.5 cm was seen in the occipital region with a midline defect in the occipital bone and herniated brain tissue. Other anomalies observed were right unilateral cleft lip, right cleft palate, and bilateral syndactyly of the lower limbs and associated Congenital Talipus Equino Varus of the right foot. Other internal organs were developed appropriate for the age of the fetus.

  2. Primary repair of an incomplete unilateral cleft lip: avoiding an elongated lip and achieving a straight suture line.

    PubMed

    Nakajima, T; Yoshimura, Y; Yoneda, K; Nakanishi, Y

    1998-10-01

    The methods designed for the repair of a complete cleft lip should not be used to repair an incomplete cleft lip. This results too often in the postoperative drooping of the white lip on the affected side because in most incomplete cleft lips there is more tissue on the cleft side than in complete cleft lip. We present and discuss the refinements we made in our original technique for complete cleft lip in order to adapt it to incomplete cleft lip repair. The skin design at the white skin roll follows Cronin's method with an incision perpendicular to the vermilion border. The suture that pulls the edges of the angular incisions together pushes on the white skin roll caudally. This ensures that the peak of the Cupid's bow on the cleft side does not droop postoperatively. It also ensures that it does not take on an acute angle and that the vermilion border will be a continuous line without a break. We do not create a triangular flap at the vermilion border, but we raise a triangular flap at the alar base on the cleft side and advance it to the bottom of the columella. This creates the nostril sill and corrects the flared alar base. The resulting suture line is completely straight and runs along the philtral column. In this way, the postoperative elongation of the white lip on the cleft side can be prevented.

  3. IRF6 mutations in mixed isolated familial clefting.

    PubMed

    Rutledge, Katherine D; Barger, Christina; Grant, John H; Robin, Nathaniel H

    2010-12-01

    Mutations in the interferon regulatory factor 6 (IRF6) gene are known to cause van der Woude syndrome (VWS), a common syndromic form of oro-facial clefting characterized by the familial occurrence of mixed clefting (cleft lip with or without a cleft palate and cleft palate alone in the same family) and lower lip pits. As lip pits are not present in all cases of VWS, IRF6 mutations can cause a phenotype identical to non-syndromic clefting. However, recent studies failed to identify IRF6 mutations in sporadic and familial non-syndromic clefting, concluding that testing for IRF6 was not warranted for sporadic or familial non-syndromic clefting. Here we report on two families that demonstrate familial mixed clefting in which mutations in IRF6 were identified, suggesting that IRF6 testing does have a role in familial, non-syndromic OFC. PMID:21082654

  4. Correlation of vermilion symmetry to alveolar cleft defect in unilateral cleft lip repair.

    PubMed

    Bonanthaya, K; Rao, D D; Shetty, P; Uguru, C

    2016-06-01

    Asymmetry is a major problem in repaired unilateral cleft lip (UCL). One of the important manifestations of this is the asymmetry of the vermilion. The aim of this study was to correlate the severity of the asymmetry in the vermilion to the size of the alveolar defect. Twenty patients aged between 6 and 18 months with complete unilateral cleft lip, alveolus, and palate were included. An impression of each patient's alveolus at the time of cheiloplasty was taken using silicon rubber base material, and a study cast was prepared. The width of the cleft alveolus was measured on these casts using a transparent grid. Frontal photographs were taken at 6 months postoperative and vermilion symmetry was measured as the ratio between the cleft and non-cleft sides. The results obtained in this study showed a direct correlation between the size of the alveolar defect and the vermilion symmetry in repaired UCL. The wider the cleft alveolus and greater the antero-posterior discrepancy, the greater is the vermilion asymmetry. The asymmetry of the vermilion in UCL after repair is directly dependent on the size of the alveolar defect. The alveolar discrepancy causes 'in-rolling' of the vermilion on the cleft side and affects the vermilion symmetry.

  5. The Essential Anatomical Subunit Approximation Unilateral Cleft Lip Repair.

    PubMed

    Chong, David K; Swanson, Jordan W

    2016-07-01

    The anatomical subunit approximation cleft lip repair advantageously achieves a balanced lip contour, with the line of repair hidden along seams of aesthetic subunits. Dr. David Fisher's original description of the repair reflects the considerable thought that went into the evolution of his design. As his technique has gained acceptance in the intervening 10 years, the authors note several key principles embodied in it that represent a shift in the cleft lip repair paradigm. The authors believe understanding these principles is important to mastery of the anatomical subunit technique, and facilitate its teaching. First, design a plan that adheres to anatomical subunits and perform measurements precisely. Second, identify and adequately release each cleft tissue layer from the lip and nose to enable restoration of balance. Third, drive surgical approximation through inset of the lateral muscle into the superiorly backcut medial orbicularis muscle, followed by skin closure with inferior triangle interposition above the white roll. In this article, the authors present essential components of the technique, and identify several principles that enable its successful execution. PMID:27348690

  6. Isolated cleft lip with generalized aggressive periodontitis: A rare entity

    PubMed Central

    Metgud, Renuka; Kumar, Ajay; Bhat, Kishore

    2015-01-01

    Oro-facial clefts are one of the most common birth defects and may be associated with other genetic anomalies. Aggressive periodontitis is a rare condition that progresses rapidly, but affects only a small percentage of the population. Most of the cases of aggressive periodontitis are familial. Even though, literature has documented the association of various genetic disorders with aggressive periodontitis, the aggressive periodontitis in patients with isolated cleft lip (CL) have never been addressed. Here, we report a rare case of isolated CL with generalized aggressive periodontitis. The concomitant presentation of isolated CL with aggressive periodontitis in an individual has clinical significance for multi-disciplinary care. PMID:25810600

  7. Surgical management of cleft lip in pedo-patients.

    PubMed

    Taware, C P; Kulkarni, S R

    1991-01-01

    The Present article describes in short etiology of cleft lip and cleft palate. With this in-born defect, patient develops crucial problems with feeding, phonation, overall growth and development of affected and allied soft and hard tissue structures. This in turn results in deformity and asymmetry which is going to affect functional requirements as well as aesthetic outlook. Hence it really becomes mandatory to correct this defect surgically as early as possible, at stipulated timings so as to avoid present and future anticipated problems. PMID:1820390

  8. Surgical management of cleft lip in pedo-patients.

    PubMed

    Taware, C P; Kulkarni, S R

    1991-01-01

    The Present article describes in short etiology of cleft lip and cleft palate. With this in-born defect, patient develops crucial problems with feeding, phonation, overall growth and development of affected and allied soft and hard tissue structures. This in turn results in deformity and asymmetry which is going to affect functional requirements as well as aesthetic outlook. Hence it really becomes mandatory to correct this defect surgically as early as possible, at stipulated timings so as to avoid present and future anticipated problems.

  9. Development of the Object Permanence Concept in Cleft Lip and Palate and Noncleft Lip and Palate Infants.

    ERIC Educational Resources Information Center

    Pecyna, Paula M.; And Others

    1987-01-01

    The development of the concept of object permanence was investigated with eight infants with cleft lip/palate and four nonimpaired infants. Superior performance of the cleft lip/palate group was found, possibly due to increased environmental stimulation provided by parents. (DB)

  10. Facial tissue depths in children with cleft lip and palate.

    PubMed

    Starbuck, John M; Ghoneima, Ahmed; Kula, Katherine

    2015-03-01

    Cleft lip and palate (CLP) is a craniofacial malformation affecting more than seven million people worldwide that results in defects of the hard palate, teeth, maxilla, nasal spine and floor, and maxillodental asymmetry. CLP facial soft-tissue depth (FSTD) values have never been published. The purpose of this research is to report CLP FSTD values and compare them to previously published FSTD values for normal children. Thirty-eight FSTDs were measured on cone beam computed tomography images of CLP children (n = 86; 7-17 years). MANOVA and ANOVA tests determined whether cleft type, age, sex, and bone graft surgical status affect tissue depths. Both cleft type (unilateral/bilateral) and age influence FSTDs. CLP FSTDs exhibit patterns of variation that differ from normal children, particularly around the oronasal regions of the face. These differences should be taken into account when facial reconstructions of children with CLP are created. PMID:25442980

  11. Definition of Critical Periods for Hedgehog Pathway Antagonist-Induced Holoprosencephaly, Cleft Lip, and Cleft Palate

    PubMed Central

    Heyne, Galen W.; Melberg, Cal G.; Doroodchi, Padydeh; Parins, Kia F.; Kietzman, Henry W.; Everson, Joshua L.; Ansen-Wilson, Lydia J.; Lipinski, Robert J.

    2015-01-01

    The Hedgehog (Hh) signaling pathway mediates multiple spatiotemporally-specific aspects of brain and face development. Genetic and chemical disruptions of the pathway are known to result in an array of structural malformations, including holoprosencephaly (HPE), clefts of the lip with or without cleft palate (CL/P), and clefts of the secondary palate only (CPO). Here, we examined patterns of dysmorphology caused by acute, stage-specific Hh signaling inhibition. Timed-pregnant wildtype C57BL/6J mice were administered a single dose of the potent pathway antagonist vismodegib at discrete time points between gestational day (GD) 7.0 and 10.0, an interval approximately corresponding to the 15th to 24th days of human gestation. The resultant pattern of facial and brain dysmorphology was dependent upon stage of exposure. Insult between GD7.0 and GD8.25 resulted in HPE, with peak incidence following exposure at GD7.5. Unilateral clefts of the lip extending into the primary palate were also observed, with peak incidence following exposure at GD8.875. Insult between GD9.0 and GD10.0 resulted in CPO and forelimb abnormalities. We have previously demonstrated that Hh antagonist-induced cleft lip results from deficiency of the medial nasal process and show here that CPO is associated with reduced growth of the maxillary-derived palatal shelves. By defining the critical periods for the induction of HPE, CL/P, and CPO with fine temporal resolution, these results provide a mechanism by which Hh pathway disruption can result in “non-syndromic” orofacial clefting, or HPE with or without co-occurring clefts. This study also establishes a novel and tractable mouse model of human craniofacial malformations using a single dose of a commercially available and pathway-specific drug. PMID:25793997

  12. [Electromyography of perioral muscles in the cleft lip and palate patients with crossbite].

    PubMed

    Li, W R; Lin, J X; Fu, M K

    1994-11-01

    In this study, twenty-nine cleft lip and palate patients with anterior crossbite were chosen as study group and twenty-eight normal children, twenty-seven patients with anterior crossbite as the control groups. All subjects were examined with EMG, and found some characters of the perioral muscles activity of the cleft patients. (1) The electromyographic amplitude of the upper lip and chin muscles was higher in cleft patients than that of other two groups during swallowing of saliva (2) Activity of chin muscle in cleft patients and crossbite patients in rest position were higher than that of normal occlusion (3) The Asymmetry index of the activity of upper lip muscle in every functional positions of the cleft patients are higher than ther groups. The abnormal activity of perioral muscles of the cleft patients demonstrate that functional repairment of cleft lip and needed lip bumper are necessary.

  13. Morphometric analysis of brain shape in children with nonsyndromic cleft lip and/or palate.

    PubMed

    Chollet, Madeleine B; DeLeon, Valerie B; Conrad, Amy L; Nopoulos, Peg

    2014-12-01

    The purpose of this study was to test for differences in brain shape among children with cleft palate only (n = 22), children with cleft lip and palate (n = 35), and controls (n = 39) using Euclidean distance matrix analysis. Sixteen percent of interlandmark distances differed between children with cleft palate only and controls, 10% differed between children with cleft lip and palate and controls, and 10% differed between children with cleft palate only and children with cleft lip and palate. Major differences in brain shape associated with cleft lip and/or palate included posterior expansion of the occipital lobe, reorientation of the cerebellum, heightened callosal midbody, and posterior displacement of the caudate nucleus and thalamus. Differences in brain shape unique to cleft palate only and to cleft lip and palate were also identified. These results expand upon previous volumetric studies on brain morphology in individuals with cleft lip and/or palate and provide additional evidence that the primary defect in cleft lip and/or palate results in both facial and brain dysmorphology.

  14. The Effect of Cleft Lip and Palate, and the Timing of Lip Repair on Mother-Infant Interactions and Infant Development

    ERIC Educational Resources Information Center

    Murray, Lynne; Hentges, Francoise; Hill, Jonathan; Karpf, Janne; Mistry, Beejal; Kreutz, Marianne; Woodall, Peter; Moss, Tony; Goodacre, Tim

    2008-01-01

    Background: Children with cleft lip and palate are at risk for psychological problems. Difficulties in mother-child interactions may be relevant, and could be affected by the timing of lip repair. Method: We assessed cognitive development, behaviour problems, and attachment in 94 infants with cleft lip (with and without cleft palate) and 96…

  15. A cone-beam computed tomography evaluation of facial asymmetry in unilateral cleft lip and palate individuals.

    PubMed

    Yang, Li'an; Chen, Zhenqi; Zhang, Xiaoyue

    2016-01-01

    Our study aimed to examine facial asymmetry in patients with unilateral cleft lip and palates (UCLP) using cone-beam computed tomography (CBCT) and explore the factors responsible for lower facial asymmetry in these individuals. The experimental group included 21 adolescent patients with non-syndromic UCLP while the control group comprised 14 patients without any facial cleft defects. The maxillofacial regions of the patients in the two groups were scanned using CBCT, and the Mimics 10.01 software was used to analyze the images. Multiple linear stepwise regression analysis was used to explore the factors related to the deviation of the pogonion point (Pog). Comparison of the two groups showed that the position of the lateral point of the pyriform aperture and the length of the mandibular body exhibited significant asymmetry (P < 0.05). Pog in the UCLP group deviated to the cleft side (1.24 ± 2.28 mm), and was related to B6L(R) to Sagittal plane, CdL(R) to Sagittal plane, and U6L(R) to LS plane. We concluded that significant differences between the cleft and non-cleft sides existed only around the cleft, and not in the deeper regions of the maxillary complex. Functional adaption may be the main reason responsible for chin deviation in UCLP individuals. (J Oral Sci 58, 109-115, 2016).

  16. Cleft Lip and Palate Associated with Other Malformations in a Neotropical Primate (Saimiri ustus)

    PubMed Central

    Goldschmidt, Beatriz; Lopes, Claudia AA; Moura, Marina; Nogueira, Denise M; Gonçalves, Miguel AB; Fasano, Daniele M; Andrade, Marcia CR; Nascimento, Laine WF; Marinho, Antonio M

    2010-01-01

    Cleft lip (with or without cleft palate) has been documented in several species of nonhuman primates, which in general are susceptible at similar doses and stages of gestation to the same teratogens as humans. Cleft lip can be unilateral or bilateral, isolated, syndromic, familial, or genetic. Here we report the first case of syndromic cleft lip and palate in a male bare-eared squirrel monkey (Saimiri ustus). Associated with the orofacial clefts, the monkey manifested absence of bones, malformation of vertebrae L3, only 4 fingers in each hand, and shortening of tendons leading to inflection of the hands and fingers. Previous reports describing cleft lip and palate in other squirrel monkeys (Saimiri sciureus) in other breeding units have suggested consanguineous mating as a possible cause. Although the etiology in the case we present is unknown, we discuss factors associated with orofacial clefts in humans and various nonhuman primates. PMID:20587169

  17. Two rare cases of simultaneous Tessier number 3 cleft, contralateral cleft lip, and signs of amniotic band syndrome.

    PubMed

    Xu, Yi; Mu, Yue; Chen, Renji; Zheng, Zongmei; Zhang, Wenjing

    2016-06-01

    The Tessier number 3 cleft is rare. In this paper, we report two extremely rare cases of simultaneous Tessier number 3 cleft, contralateral cleft lip, and signs of amniotic band syndrome. In the two cases, we confirmed that amniotic bands were the probable cause of the Tessier number 3 cleft, where swallowed fibrous strands of amniotic bands entangle a typical cleft lip and cause the more severe Tessier number 3 cleft. In this study, Z-plasty was performed for one case, and a straight-line method was used for the other. Postoperatively, the appearance of both patients was satisfactory, as expected. Consequently, treatment for the Tessier number 3 cleft should be designed individually based on the severity of deformity.

  18. Two rare cases of simultaneous Tessier number 3 cleft, contralateral cleft lip, and signs of amniotic band syndrome.

    PubMed

    Xu, Yi; Mu, Yue; Chen, Renji; Zheng, Zongmei; Zhang, Wenjing

    2016-06-01

    The Tessier number 3 cleft is rare. In this paper, we report two extremely rare cases of simultaneous Tessier number 3 cleft, contralateral cleft lip, and signs of amniotic band syndrome. In the two cases, we confirmed that amniotic bands were the probable cause of the Tessier number 3 cleft, where swallowed fibrous strands of amniotic bands entangle a typical cleft lip and cause the more severe Tessier number 3 cleft. In this study, Z-plasty was performed for one case, and a straight-line method was used for the other. Postoperatively, the appearance of both patients was satisfactory, as expected. Consequently, treatment for the Tessier number 3 cleft should be designed individually based on the severity of deformity. PMID:27052637

  19. A Reliable Method to Measure Lip Height Using Photogrammetry in Unilateral Cleft Lip Patients.

    PubMed

    van der Zeeuw, Frederique; Murabit, Amera; Volcano, Johnny; Torensma, Bart; Patel, Brijesh; Hay, Norman; Thorburn, Guy; Morris, Paul; Sommerlad, Brian; Gnarra, Maria; van der Horst, Chantal; Kangesu, Loshan

    2015-09-01

    There is still no reliable tool to determine the outcome of the repaired unilateral cleft lip (UCL). The aim of this study was therefore to develop an accurate, reliable tool to measure vertical lip height from photographs. The authors measured the vertical height of the cutaneous and vermilion parts of the lip in 72 anterior-posterior view photographs of 17 patients with repairs to a UCL. Points on the lip's white roll and vermillion were marked on both the cleft and the noncleft sides on each image. Two new concepts were tested. First, photographs were standardized using the horizontal (medial to lateral) eye fissure width (EFW) for calibration. Second, the authors tested the interpupillary line (IPL) and the alar base line (ABL) for their reliability as horizontal lines of reference. Measurements were taken by 2 independent researchers, at 2 different time points each. Overall 2304 data points were obtained and analyzed. Results showed that the method was very effective in measuring the height of the lip on the cleft side with the noncleft side. When using the IPL, inter- and intra-rater reliability was 0.99 to 1.0, with the ABL it varied from 0.91 to 0.99 with one exception at 0.84. The IPL was easier to define because in some subjects the overhanging nasal tip obscured the alar base and gave more consistent measurements possibly because the reconstructed alar base was sometimes indistinct. However, measurements from the IPL can only give the percentage difference between the left and right sides of the lip, whereas those from the ABL can also give exact measurements. Patient examples were given that show how the measurements correlate with clinical assessment. The authors propose this method of photogrammetry with the innovative use of the IPL as a reliable horizontal plane and use of the EFW for calibration as a useful and reliable tool to assess the outcome of UCL repair. PMID:26147027

  20. A Reliable Method to Measure Lip Height Using Photogrammetry in Unilateral Cleft Lip Patients.

    PubMed

    van der Zeeuw, Frederique; Murabit, Amera; Volcano, Johnny; Torensma, Bart; Patel, Brijesh; Hay, Norman; Thorburn, Guy; Morris, Paul; Sommerlad, Brian; Gnarra, Maria; van der Horst, Chantal; Kangesu, Loshan

    2015-09-01

    There is still no reliable tool to determine the outcome of the repaired unilateral cleft lip (UCL). The aim of this study was therefore to develop an accurate, reliable tool to measure vertical lip height from photographs. The authors measured the vertical height of the cutaneous and vermilion parts of the lip in 72 anterior-posterior view photographs of 17 patients with repairs to a UCL. Points on the lip's white roll and vermillion were marked on both the cleft and the noncleft sides on each image. Two new concepts were tested. First, photographs were standardized using the horizontal (medial to lateral) eye fissure width (EFW) for calibration. Second, the authors tested the interpupillary line (IPL) and the alar base line (ABL) for their reliability as horizontal lines of reference. Measurements were taken by 2 independent researchers, at 2 different time points each. Overall 2304 data points were obtained and analyzed. Results showed that the method was very effective in measuring the height of the lip on the cleft side with the noncleft side. When using the IPL, inter- and intra-rater reliability was 0.99 to 1.0, with the ABL it varied from 0.91 to 0.99 with one exception at 0.84. The IPL was easier to define because in some subjects the overhanging nasal tip obscured the alar base and gave more consistent measurements possibly because the reconstructed alar base was sometimes indistinct. However, measurements from the IPL can only give the percentage difference between the left and right sides of the lip, whereas those from the ABL can also give exact measurements. Patient examples were given that show how the measurements correlate with clinical assessment. The authors propose this method of photogrammetry with the innovative use of the IPL as a reliable horizontal plane and use of the EFW for calibration as a useful and reliable tool to assess the outcome of UCL repair.

  1. Epidemiologic Research on Malformations Associated with Cleft Lip and Cleft Palate in Japan.

    PubMed

    Koga, Hiroshi; Iida, Koichi; Maeda, Tomoki; Takahashi, Mizuho; Fukushima, Naoki; Goshi, Terufumi

    2016-01-01

    To investigate malformations associated with cleft lip and cleft palate, we conducted surveys at neonatal intensive care units (NICUs) and other non-NICU facilities and to determine whether there are differences among facilities. The regional survey investigated NICU facilities located in Oita Prefecture, including 92 patients with cleft lip and palate (CLP) or cleft palate (CP) that occurred between 2004 and 2013, and the national survey investigated oral surgery, plastic surgery, and obstetrics and gynecology facilities located in Japan, including 16,452 patients with cleft lip (CL), CLP, or CP that occurred since 2000. The incidence per 10,000 births was 4.2, 6.2, and 2.8 for CL, CLP, and CP, respectively, according to the national survey, and 6.3 and 2.9 for CLP and CP, respectively according to the regional survey. These results indicated comparable incidences between the two surveys. In contrast, when the survey results on malformations associated with CLP and CP according to the ICD-10 classification were compared between the national survey conducted at oral surgery or plastic surgery facilities and the regional survey conducted at NICU facilities, the occurrence of associated malformations was 19.8% vs. 41.3% for any types of associated malformation, 6.8% vs. 21.7% for congenital heart disease, and 0.5% vs. 16.3% for chromosomal abnormalities. These results indicated that the incidences of all of these associated malformations were significantly greater in the survey conducted at NICU facilities and similar to the findings from international epidemiological surveys. When comparing the survey conducted at obstetrics facilities vs. NICU facilities, the occurrence of associated malformations was similar results as above. The incidence of CLP and CP was not different between surveys conducted at NICU facilities vs. non-NICU facilities; however, when conducting surveys on associated malformations, it is possible to obtain accurate epidemiological data by

  2. Epidemiologic Research on Malformations Associated with Cleft Lip and Cleft Palate in Japan

    PubMed Central

    Koga, Hiroshi; Iida, Koichi; Maeda, Tomoki; Takahashi, Mizuho; Fukushima, Naoki; Goshi, Terufumi

    2016-01-01

    To investigate malformations associated with cleft lip and cleft palate, we conducted surveys at neonatal intensive care units (NICUs) and other non-NICU facilities and to determine whether there are differences among facilities. The regional survey investigated NICU facilities located in Oita Prefecture, including 92 patients with cleft lip and palate (CLP) or cleft palate (CP) that occurred between 2004 and 2013, and the national survey investigated oral surgery, plastic surgery, and obstetrics and gynecology facilities located in Japan, including 16,452 patients with cleft lip (CL), CLP, or CP that occurred since 2000. The incidence per 10,000 births was 4.2, 6.2, and 2.8 for CL, CLP, and CP, respectively, according to the national survey, and 6.3 and 2.9 for CLP and CP, respectively according to the regional survey. These results indicated comparable incidences between the two surveys. In contrast, when the survey results on malformations associated with CLP and CP according to the ICD-10 classification were compared between the national survey conducted at oral surgery or plastic surgery facilities and the regional survey conducted at NICU facilities, the occurrence of associated malformations was 19.8% vs. 41.3% for any types of associated malformation, 6.8% vs. 21.7% for congenital heart disease, and 0.5% vs. 16.3% for chromosomal abnormalities. These results indicated that the incidences of all of these associated malformations were significantly greater in the survey conducted at NICU facilities and similar to the findings from international epidemiological surveys. When comparing the survey conducted at obstetrics facilities vs. NICU facilities, the occurrence of associated malformations was similar results as above. The incidence of CLP and CP was not different between surveys conducted at NICU facilities vs. non-NICU facilities; however, when conducting surveys on associated malformations, it is possible to obtain accurate epidemiological data by

  3. The Evolution of Human Genetic Studies of Cleft Lip and Cleft Palate

    PubMed Central

    Marazita, Mary L.

    2013-01-01

    Orofacial clefts (OFCs)—primarily cleft lip and cleft palate—are among the most common birth defects in all populations worldwide, and have notable population, ethnicity, and gender differences in birth prevalence. Interest in these birth defects goes back centuries, as does formal scientific interest; scientists often used OFCs as examples or evidence during paradigm shifts in human genetics, and have also used virtually every new method of human genetic analysis to deepen our understanding of OFC. This review traces the evolution of human genetic investigations of OFC, highlights the specific insights gained about OFC through the years, and culminates in a review of recent key OFC genetic findings resulting from the powerful tools of the genomics era. Notably, OFC represents a major success for genome-wide approaches, and the field is poised for further breakthroughs in the near future. PMID:22703175

  4. Phonetic features by babies with unilateral cleft lip and palate.

    PubMed

    O'Gara, M M; Logemann, J A; Rademaker, A W

    1994-11-01

    Twenty-three babies with nonsyndromic unilateral cleft lip and palate were audiotaped at regular intervals from 5 to 35 months of age. Narrow phonetic transcription of their comfort-state vocalizations and word approximations was accomplished to describe phonetic development over time and according to the nonrandomized age of palatoplasty. The babies that had earlier palatal repair produced significantly higher percentages of oral stops after 12 months of age than babies with similar clefts that had later palatal repair. No significant differences are evident, however, according to age of palatoplasty, for mean frequency use of oral fricatives up to 3 years of age. For all 23 babies, regardless of the age of palatoplasty intervention, time is an even stronger variable than age of palatoplasty for development of palatal, alveolar and velar place features, oral stops, and oral fricatives.

  5. Changes in Finnish dental consonant articulation in cleft lip/palate children between 6 and 8 years of age.

    PubMed

    Laitinen, J; Ranta, R; Pulkkinen, J; Paaso, M; Haapanen, M L

    2000-01-01

    The aim of this study was to clarify changes in the occurrence of misarticulations of dental consonants /r/, /s/ and /l/ between 6 and 8 years of age in cleft-affected Finnish children and to compare the effects of gender and to estimate if spacing due to changing of maxillary incisors could explain changes in articulation of these sounds. The subjects were 133 (47 girls, 86 boys) Finnish-speaking non-syndromic children with isolated cleft palate (n = 34), cleft lip/alveolus (n = 49), unilateral (n = 33), and bilateral (n = 17) cleft lip and palate. The results showed that there were no statistically significant differences between genders according to changes in articulation abilities by the age of 8 years. Eighty-one percent of the subjects with misarticulations at the age of 6 years still misarticulated at 8 years of age, and 16% of the subjects without misarticulations at the age of 6 years misarticulated at the age of 8 years; /s/ and /l/ misarticulations were eliminated more often than /r/ errors. New misarticulations were diagnosed at the age of 8 years in the same way in the groups with (14%) and without (16%) misarticulations at the age of 6 years. Dental arch spacing due to changing of maxillary incisors does not seem to explain new misarticulations of /r/, /s/ and /l/ sounds estimated at the age of 8 years.

  6. Aesthetic tooth modification for patients with cleft lip and palate.

    PubMed

    Burke, F J; Shaw, W C

    1992-11-01

    Alongside orthodontic treatment, tooth shape modification may be indicated for teeth associated with clefts of the lip and alveolus, and in non-carious teeth, minimal tooth preparation techniques appear to be most appropriate. Two methods of tooth shape modification are described. In one, hybrid composite materials, bonded to tooth enamel using the acid-etch technique, may be considered to provide a permanent, low cost, aesthetically satisfactory result, often without tooth preparation and with minimal operating time. Alternatively, indirect veneers may be appropriate for treatment of more severely malformed teeth.

  7. Early Predictors of Attachment in Infants with Cleft Lip and/or Palate.

    ERIC Educational Resources Information Center

    Speltz, Matthew L.; And Others

    1997-01-01

    Examined attachment classification of children with cleft lip and palate (CLP) and isolated cleft palate (ICP) and comparison group at 12 months of age; found no significant differences. Findings suggest that infants with clefts, despite special needs and caregiving requirements, seem not to have elevated risk for insecure attachments at the end…

  8. Maiden morsel - feeding in cleft lip and palate infants

    PubMed Central

    Devi, E. Sree; Sai Sankar, A. J.; Manoj Kumar, M. G.; Sujatha, B.

    2012-01-01

    Cleft lip and cleft palate are the most common craniofacial anomalies that have an incidence of 0.28 to 3.74 per 1000 live births globally. Due to the great advancements in the field of medical science, these anomalies can today be corrected. However, it cannot be ignored that the parents of these patients may face psychological stress due to the cleft defects in the baby. Also, these conditions may cause financial difficulties to the parents and cause anxiety to the mother about the proper feeding of their infant. Feeding problems can range from excessive air intake to failure to thrive. As the management of such cases is lengthy and includes a multi-disciplinary team approach, it is the role of the Pediatrician/Pedodontist to educate the mother about the proper feeding techniques. In this article, we have reviewed and highlighted the various traditional and advanced devices and techniques which help in the successful management of these individuals. PMID:24478964

  9. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts

    PubMed Central

    Barrow, L; van Bokhoven, H; Daack-Hirsch, S; Andersen, T; van Beersum, S E C; Gorlin, R; Murray, J

    2002-01-01

    EEC syndrome is an autosomal dominant disorder with the cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families. In addition, homozygous p63 null mice exhibit craniofacial abnormalities, limb truncations, and absence of epidermal appendages, such as hair follicles and tooth primordia. In this study, we screened 39 syndromic patients, including four with EEC syndrome, five with syndromes closely related to EEC syndrome, and 30 with other syndromic orofacial clefts and/or limb anomalies. We identified heterozygous p63 mutations in three unrelated cases of EEC syndrome, two Iowa white families and one sporadic case in a Filipino boy. One family is atypical for EEC and has features consistent with Hay-Wells syndrome. In this family, the mutation ablates a splice acceptor site and, in the other two, mutations produce amino acid substitutions, R280C and R304Q, which alter conserved DNA binding sites. Germline mosaicism was detected in the founder of the mutation in one case. These three cases show significant interfamilial and intrafamilial variability in expressivity. We also screened p63 in 62 patients with non-syndromic orofacial clefts, identifying an intronic single nucleotide polymorphism but finding no evidence of mutations that would explain even a subset of non-syndromic orofacial clefts. This study supports a common role for p63 in classical EEC syndrome, both familial and sporadic, but not in other related or non-syndromic forms of orofacial clefts. PMID:12161593

  10. Rescue of lip switch flap at risk of necrosis due to venous congestion for cleft lip deformity

    PubMed Central

    Sugiyama, Madoka; Saijo, Hideto; Kazuto, Hoshi; Takato, Tsuyoshi

    2016-01-01

    Abstract In a 21-year-old male with bilateral cleft lip who developed marked venous congestion of a lip switch flap, we returned the grafted flap to the donor site to improve blood circulation of the flap and then re-transplanted it, which prevented flap necrosis. Here, we report the procedure and case. PMID:27583269

  11. Rescue of lip switch flap at risk of necrosis due to venous congestion for cleft lip deformity.

    PubMed

    Sugiyama, Madoka; Saijo, Hideto; Kazuto, Hoshi; Takato, Tsuyoshi

    2016-01-01

    In a 21-year-old male with bilateral cleft lip who developed marked venous congestion of a lip switch flap, we returned the grafted flap to the donor site to improve blood circulation of the flap and then re-transplanted it, which prevented flap necrosis. Here, we report the procedure and case. PMID:27583269

  12. Alveolar bone grafting in the treatment of midline alveolar cleft and diastema in incomplete median cleft lip.

    PubMed

    Liao, H-T; Chen, C-H; Bergeron, L; Ko, E W-C; Chen, P K T; Chen, Y-R

    2008-10-01

    Median cleft lip is a rare congenital anomaly. The wide diastema with mesial tipping observed in these patients has been largely overlooked. A midline submucosal alveolar cleft prevents adequate treatment. The purpose of this article is to describe an alveolar bone grafting (ABG) technique used in the combined surgical-orthodontic approach to diastema treatment in patients presenting with incomplete median cleft lip. Patients treated for incomplete median cleft lip and diastema were identified in the clinic registry from 1981 to 2007. Six patients were identified; 4 underwent ABG before permanent maxillary incisor eruption, the other 2 were seen later when they were 11 years old. All 6 ABGs were successful. The incisors erupted through the graft or were successfully moved into it with lasting results. Follow-up ranged from 8 to 21 years. The existence of a midline submucosal alveolar cleft and subsequent diastema should be recognized and addressed in all patients who present with incomplete median cleft lip repair. This includes taking maxillary occlusal view X-rays before the age of 5 years to detect the cleft, and proceed to ABG if necessary, generally before permanent maxillary incisor eruption. PMID:18771899

  13. Nonsyndromic cleft lip with or without cleft palate: New BCL3 information

    SciTech Connect

    Amos, C.; Hecht, J.T.; Gasser, D.

    1996-09-01

    We did not previously provide LOD scores for linkage assuming heterogeneity, as suggested by Ott for the linkage analysis of cleft lip with or without cleft palate (CL/P) and BCL3, ApoC2, and D19S178 in the paper by Stein et al. The results from analysis using the HOMOG program, allowing for heterogeneity under the reduced penetrance model, gave a maximum LOD score of 1.85 for ApoC2, 0.41 for BCL3, 0.03 for D19S178, and 1.72 for multipoint analysis in the interval. For the affecteds-only model, the values are 1.96 for ApoC2, 0.41 for BCL3, 0.01 for D19S178, and 1.44 for the multipoint analysis. 8 refs.

  14. Minimal standards for reporting the results of surgery on patients with cleft lip, cleft palate, or both: a proposal.

    PubMed

    Dalston, R M; Marsh, J L; Vig, K W; Witzel, M A; Bumsted, R M

    1988-01-01

    This article proposes a set of minimal standards for reporting the results of surgery on patients with cleft lip with or without cleft palate and cleft palate only. These standards do not represent what is technically possible, only what is considered minimally acceptable for presentation in a public forum. They have a clinical focus and should be attainable by any well-constituted cleft palate team. As the title indicates, this document is a proposal. It is hoped that the readership will respond to the recommendations presented so that some set of standards can be adopted in the near future. Once adopted, these standards should be reviewed and updated periodically.

  15. Follow-Up Association Studies of Chromosome Region 9q and Nonsyndromic Cleft Lip/Palate

    PubMed Central

    Letra, Ariadne; Menezes, Renato; Govil, Manika; Fonseca, Renata F.; McHenry, Toby; Granjeiro, José M.; Castilla, Eduardo E.; Orioli, Iêda M.; Marazita, Mary L.; Vieira, Alexandre R.

    2010-01-01

    Cleft lip/palate comprises a large fraction of all human birth defects, and is notable for its significant lifelong morbidity and complex etiology. Several studies have shown that genetic factors appear to play a significant role in the etiology of cleft lip/palate. Human chromosomal region 9q21 has been suggested in previous reports to contain putative cleft loci. Moreover, a specific region (9q22.3-34.1) was suggested to present a ∼45% probability of harboring a cleft susceptibility gene. Fine mapping of fifty SNPs across the 9q22.3-34.11 region was performed to test for association with cleft lip/palate in families from United States, Spain, Turkey, Guatemala, and China. We performed family-based analysis and found evidence of association of cleft lip/palate with STOM (rs306796) in Guatemalan families (P=0.004) and in all multiplex families pooled together (P=0.002). This same SNP also showed borderline association in the US families (P=0.04). Under a nominal value of 0.05, other SNPs also showed association with cleft lip/palate and cleft subgroups. SNPs in STOM and PTCH genes and nearby FOXE1 were further associated with cleft phenotypes in Guatemalan and Chinese families. Gene prioritization analysis revealed PTCH and STOM ranking among the top fourteen candidates for cleft lip/palate among 339 genes present in the region. Our results support the hypothesis that the 9q22.32-34.1 region harbors cleft susceptibility genes. Additional studies with other populations should focus on these loci to further investigate the participation of these genes in human clefting. PMID:20583170

  16. 20 years of cleft lip and palate missions

    PubMed Central

    Lambrecht, J. Thomas; Kreusch, Thomas; Marsh, Jeff L.; Schopper, Christian

    2014-01-01

    Volunteer missions for cleft lip and palate (CLP) care in Indonesia (1991-1992), India (1994-2003), Bhutan (2005-2010), and Kenya (2011), took place always at the same Hospital in each country. Altogether over a thousand patients were operated using a conservative protocol: Safety first - no experiments. Five months and 5 kg were the basic rules. For the native doctors, training help for self-help was priority. In the announcements, patients with CLP were primarily addressed. Burns, contractions, tumors, and trauma-cases were the second priority. Fresh trauma was done in night shifts with the local surgeons in order not to interfere. Besides facial esthetics speech was the number one issue, following priorities fell into place. Cultural aspects played a certain role in the different countries and continents. PMID:25593861

  17. Ectrodactyly, Ectodermal dysplasia, and Cleft Lip-Palate Syndrome; Its Association with Conductive Hearing Loss

    ERIC Educational Resources Information Center

    Robinson, Geoffrey C.; And Others

    1973-01-01

    Conductive hearing loss associated with the ectrodactyly, ectodermal dysplasia, and cleft lip palate syndrome was reported in one sporadic case and in a pedigree with four cases in three generations. (GW)

  18. Management of feeding Problem in a Patient with Cleft Lip/Palate.

    PubMed

    Goswami, Mridula; Jangra, Babita; Bhushan, Urvashi

    2016-01-01

    In a child with cleft lip and/or palate, nutrition is the first priority as for any other child. These children have specific physical limitations. To fulfill their nutritional requirement, these children need modifications in order to thrive and grow. Failure to adjust to these needs could place the children into a potential life-threatening situation. One of the immediate problems to be addressed in a newborn with cleft lip/palate is difficulty in feeding. Nasal regurgitation and choking are common because of inability of the palate to separate the nasal and oral cavities. The case presented here discusses the management of feeding problem in the infant with cleft lip/palate. How to cite this article: Goswami M, Jangra B, Bhushan U. Management of feeding Problem in a Patient with Cleft Lip/ Palate. Int J Clin Pediatr Dent 2016;9(2):143-145. PMID:27365936

  19. Management of feeding Problem in a Patient with Cleft Lip/Palate

    PubMed Central

    Goswami, Mridula; Bhushan, Urvashi

    2016-01-01

    ABSTRACT In a child with cleft lip and/or palate, nutrition is the first priority as for any other child. These children have specific physical limitations. To fulfill their nutritional requirement, these children need modifications in order to thrive and grow. Failure to adjust to these needs could place the children into a potential life-threatening situation. One of the immediate problems to be addressed in a newborn with cleft lip/palate is difficulty in feeding. Nasal regurgitation and choking are common because of inability of the palate to separate the nasal and oral cavities. The case presented here discusses the management of feeding problem in the infant with cleft lip/palate. How to cite this article: Goswami M, Jangra B, Bhushan U. Management of feeding Problem in a Patient with Cleft Lip/ Palate. Int J Clin Pediatr Dent 2016;9(2):143-145. PMID:27365936

  20. Spelling Processes of Children With Nonsyndromic Cleft Lip and/or Palate: A Preliminary Study.

    PubMed

    Lee, Karen Shi Mei; Young, Selena Ee-Li; Liow, Susan Jane Rickard; Purcell, Alison Anne

    2015-01-01

    Objective :  To compare the cognitive-linguistic processes underlying spelling performance of children with cleft lip and/or palate with those of typically developing children. Design :  An assessment battery including tests of hearing, articulation, verbal short-term and working memory, and phonological awareness, as well as word and nonword spelling, was administered to both groups. Participants :  A total of 15 children with nonsyndromic cleft lip and/or palate were case-matched by age and sex to 15 typically developing children. The children were aged between 6 and 8 years and were bilingual, with English the dominant language. Results :  Wilcoxon signed-rank tests revealed that the performance of children with cleft lip and/or palate was significantly poorer on phoneme deletion and nonword spelling (P < .05) compared with typically developing children. Spearman correlation analyses revealed different relationships between the cognitive-linguistic and spelling measures for the cleft lip and/or palate and typically developing groups. Conclusions :  Children with cleft lip and/or palate underachieve in phonological awareness and spelling skills. To facilitate early intervention for literacy problems, speech-language pathologists should routinely assess the cognitive-linguistic processing of children with cleft lip and/or palate, especially phonological awareness, as part of their case management protocols. PMID:24588579

  1. Verbal Competence in Narrative Retelling in 5-Year-Olds with Unilateral Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Klintö, Kristina; Salameh, Eva-Kristina; Lohmander, Anette

    2015-01-01

    Background: Research regarding expressive language performance in children born with cleft palate is sparse. The relationship between articulation/phonology and expressive language skills also needs to be further explored. Aims: To investigate verbal competence in narrative retelling in 5-year-old children born with unilateral cleft lip and palate…

  2. Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African Cohort.

    PubMed

    Weatherley-White, R Christopher; Ben, Songtao; Jin, Ying; Riccardi, Sheri; Arnold, Thomas D; Spritz, Richard A

    2011-10-01

    Nonsyndromic cleft lip with or without cleft palate is a common birth defect with a wide range of prevalence among different populations, apparently highest in Asians and Amerindians and lowest in Africans. Recent genomewide association studies of European-derived and Asian populations have identified six confirmed loci for this phenotype: 1p22.1, 1q32.2 (IRF6), 8q24, 10q25.3, 17q22, and 20q12. However, there have thus far been no studies of these loci in African patients with nonsyndromic cleft lip with or without cleft palate. We carried out association analysis of SNPs in these six candidate chromosomal regions in 128 nonsyndromic cleft lip with or without cleft palate cases and 105 controls from the Rift Valley of Kenya. We observed no apparent association of this phenotype with any of these SNPs, though there was strong statistical power only for 8q24. These results indicate that at least the 8q24 locus does not play a major role in the pathogenesis of nonsyndromic cleft lip with or without cleft palate in east Africa, supporting locus heterogeneity for susceptibility to this phenotype among different major populations of the world.

  3. The Young Child with Cleft Lip and Palate: Intervention Needs in the First Three Years.

    ERIC Educational Resources Information Center

    Edmonson, Rebecca; Reinhartsen, Debra

    1998-01-01

    Discusses the multiple medical, dental, therapeutic, psychosocial, and early intervention needs faced by children with cleft lip and cleft plate during the first three years of life. The physiological development of children with these disabilities is described and the need for interdisciplinary team involvement is emphasized. (Author/CR)

  4. Cleft Crossing Medial Mucosal Flap for Deepening of the Gingivolabial Sulcus in a Complete Cleft Lip Repair.

    PubMed

    Park, Jong Lim; Hwang, Kun

    2015-06-01

    The aim of the present study is to introduce a method of which the medial mucosal flap is used in a deepening of the gingivolabial sulcus in a complete cleft lip repair. An incision was made on the lateral vestibular lining and the contracture was released. The defect produced was filled by transposing the lateral mucosal flap (l-flap). The transposed l-flap was sutured except for the proximal part of the lateral side. The medial mucosal flap (m-flap) was elevated with its base above on the alveolus. The m-flap was turned over and crossed over the cleft thereafter and the distal end of the m-flap was sutured to the proximal part of the lateral side of the l-flap. The width of the m-flap was 4 to 5 mm, and the length depended on the width of the cleft. The raw surface of the m-flap faced the outer side and was covered with the repaired muscle layer. Thereafter, the m-flap became a part of the deepened gingivolabial sulcus. A total of 12 patients (8 men, 4 women) with a unilateral complete cleft lip (left 9, right 3) were operated on using this technique and at least 2 mm deepening effect of upper gingivolabial sulcus was observed in 8 patients followed up. The authors think this cleft crossing medial mucosal flap technique may be of use in the primary repair of a unilateral cleft lip. PMID:26080198

  5. White Roll Vermilion turn down flap in primary unilateral cleft lip repair: A novel approach

    PubMed Central

    Mishra, R. K.; Agarwal, Amit

    2015-01-01

    Aim: Numerous modifications of Millard's technique of rotation – advancement repair have been described in literature. This article envisions a new modification in Millard's technique of primary unilateral chieloplasty. Material and Methods: Eliminating or reducing the secondary deformities in children with cleft lip has been a motivating factor for the continual refinement of cleft lip surgical techniques through the years. Vermilion notching, visibility of paramedian scars and scar contracture along the white roll are quite noticeable in close-up view even in good repairs. Any scar is less noticeable if it is in midline or along the lines of embryological closure. White Roll Vermilion turn down Flap (WRV Flap), a modification in the Millard's repair is an attempt to prevent these secondary deformities during the primary cleft lip sugery. This entails the use of white roll and the vermilion from the lateral lip segment for augmenting the medial lip vermilion with the final scar in midline at the vermilion. Result: With an experience of more than 100 cases of primary cleft lip repair with this technique, we have achieved a good symmetry and peaking of cupid's bow with no vermilion notching of the lips. Conclusion: WRV flap aims to high light the importance of achieving a near normal look of the cleft patient with the only drawback of associated learning curve with this technique. PMID:26424983

  6. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate

    PubMed Central

    Moreno, Lina M.; Mansilla, Maria Adela; Bullard, Steve A.; Cooper, Margaret E.; Busch, Tamara D.; Machida, Junichiro; Johnson, Marla K.; Brauer, David; Krahn, Katherine; Daack-Hirsch, Sandy; L'Heureux, Jamie; Valencia-Ramirez, Consuelo; Rivera, Dora; López, Ana Maria; Moreno, Manuel A.; Hing, Anne; Lammer, Edward J.; Jones, Marilyn; Christensen, Kaare; Lie, Rolv T.; Jugessur, Astanand; Wilcox, Allen J.; Chines, Peter; Pugh, Elizabeth; Doheny, Kim; Arcos-Burgos, Mauricio; Marazita, Mary L.; Murray, Jeffrey C.; Lidral, Andrew C.

    2009-01-01

    Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22–q33. To identify the etiologic gene, we undertook an iterative and complementary fine mapping strategy using family-based CL/P samples from Colombia, USA and the Philippines. Candidate genes within 9q22–q33 were sequenced, revealing 32 new variants. Concurrently, 397 SNPs spanning the 9q22–q33 2-LOD-unit interval were tested for association. Significant SNP and haplotype association signals (P = 1.45E − 08) narrowed the interval to a 200 kb region containing: FOXE1, C9ORF156 and HEMGN. Association results were replicated in CL/P families of European descent and when all populations were combined the two most associated SNPs, rs3758249 (P = 5.01E − 13) and rs4460498 (P = 6.51E − 12), were located inside a 70 kb high linkage disequilibrium block containing FOXE1. Association signals for Caucasians and Asians clustered 5′ and 3′ of FOXE1, respectively. Isolated cleft palate (CP) was also associated, indicating that FOXE1 plays a role in two phenotypes thought to be genetically distinct. Foxe1 expression was found in the epithelium undergoing fusion between the medial nasal and maxillary processes. Mutation screens of FOXE1 identified two family-specific missense mutations at highly conserved amino acids. These data indicate that FOXE1 is a major gene for CL/P and provides new insights for improved counseling and genetic interaction studies. PMID:19779022

  7. Lack of Association between Missense Variants in GRHL3 (rs2486668 and rs545809) and Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese Population

    PubMed Central

    He, Miao; Bian, Zhuan

    2016-01-01

    Background Grainyhead-like-3 (GRHL3) was recently identified as the second gene that, when mutated, can leads to Van der Woude syndrome, which is characterized by orofacial clefts (OFC) and lower lip pits. In addition, a missense variant (rs41268753) in GRHL3 confers risk for non-syndromic cleft palate cases of European ancestry. Together with interferon regulatory factor 6 (IRF6), GRHL3 may be associated with the risk of NSOFC which awaits for being verified across different ethnic populations. Objective The aim of this study was to investigate the possible relationship between common functional variants in GRHL3 and susceptibility to NSOFC, especially cleft palate cases, in a Han Chinese population, one of the ethnic groups with the highest birth prevalence of orofacial clefting. Methods Because the allele frequency for rs41268753 minor alleles was zero in our Chinese population, we selected functional single nucleotide polymorphisms (SNPs) spanning GRHL3 with minor allele frequencies (MAFs) > 5% in the Han Chinese population. Two SNPs which meet the above criteria were then genotyped in a case-control cohort comprising 1145 individuals using the TaqMan 5′-exonuclease allelic discrimination assay. Results SNPs rs2486668 and rs545809 were used in this study. Overall genotype and allele distributions of both SNPs in general and stratified genotyping analyses revealed no statistically significant differences between cases and controls. Further logistic regression analyses using different genetic models failed to reveal any evidence that these markers influence risk to NSOFC. Conclusions The variant rs41268753 in GRHL3 increases the risk for cleft palate in European population, but our findings failed to detect the link between two GRHL3 SNPs (rs2486668 and rs545809) and risk to NSOFC in the Han Chinese cohort. Although the present study did not provide any evidence that common functional variants in GRHL3 may contribute to NSOFC etiology in this Chinese population

  8. Prevalence of Associated Anomalies in Cleft Lip and/or Palate Patients

    PubMed Central

    Abdollahi Fakhim, Shahin; Shahidi, Nikzad; Lotfi, Alireza

    2016-01-01

    Introduction: Orofacial clefts are among the most common congenital anomalies. Patients presenting with orofacial clefts often require surgery or other complex procedures. A cleft lip or palate can be a single anomaly or a part of multiple congenital anomalies. The reported prevalence of cleft disease and associated anomalies varies widely across the literature, and is dependent on the diagnostic procedure used. In this study we determined the prevalence of associated anomalies in patients with a cleft lip and/or palate, with a specific focus on cardiac anomalies. Materials and Methods: In this cross-sectional study, 526 patients with a cleft lip and /or palate admitted to the children’s referral hospital between 2006 and 2011 were evaluated. All associated anomalies were detected and recorded. Patient information collected included age, gender, type and side of cleft, craniofacial anomalies and presence of other anomalies, including cardiac anomalies. Data were analyzed using SPSS version 16. Results: Of the 526 patients enrolled in the study, 58% (305) were male and 42% (221) were female. In total, 75% of patients (396) were aged between 4 and 8 years and 25% (130) were aged less than 4 years. The most common cleft type in our study was bilateral cleft palate. The most commonly associated anomaly among cleft patients, in 12% of cleft patients, was a cardiac anomaly. The most common cardiac anomaly was atrial septal defect (ASD). Conclusion: The prevalence of associated anomalies among orofacial cleft patients is high. The most common associated anomaly is cardiac anomaly, with ASD being the most common cardiac anomaly. There are no significant relationships between type of cleft and associated cardiac anomalies. PMID:27280100

  9. GFA Taq I polymorphism and cleft lip with or without cleft palate (CL/P) risk

    PubMed Central

    Dong, Lijia; Ma, Lian

    2015-01-01

    The transforming growth factor alpha (TGFA) Taq I polymorphism has been indicated to be correlated with cleft lip with or without cleft palate (CL/P) susceptibility, but study results are still debatable. Thus, a meta-analysis was conducted. We conducted a comprehensive search of Embase, Ovid, Web of Science, the Cochrane database, PubMed, the Chinese Biomedical Literature Database (CBM-disc, 1979-2014), the database of National Knowledge Infrastructure (CNKI, 1979-2014) and the full paper database of Chinese Science and Technology of Chongqing (VIP, 1989-2014) to identify suitable studies. There were 18 studies suitable for this meta-analysis, involving a total of 3135 cases and 3575 controls. Significantly increased CL/P risk was observed (OR = 1.49; 95% CI 1.17-1.89; P = 0.001). In subgroup analyses stratified by ethnicity, there was evidence in the Caucasian population for an association between this polymorphism and CL/P risk (OR = 1.52; 95% CI 1.14-2.02; P = 0.004). However, no significant association was found between this his polymorphism and CL/P risk in African and Hispanic populations. According to a specific CL/P type, increased clip lip and palate risk and clip palate risk were found (OR = 1.38; 95% CI 1.10-1.73; P = 0.005; OR = 1.29; 95% CI 1.01-1.66; P = 0.042). In conclusion, the present meta-analysis found that the TGFA Taq I polymorphism may be associated with CL/P susceptibility. PMID:26064247

  10. Cleft lip with or without cleft palate in Shanghai, China: Evidence for an autosomal major locus

    SciTech Connect

    Marazita, M.L. ); Hu, Dan-Ning; Liu, You-E. ); Spence, A. ); Melnick, M. )

    1992-09-01

    Orientals are at higher risk for cleft lip with our without cleft palate (CL[+-] P) than Caucasians or blacks. The authors collected demographic and family data to study factors contributing to the etiology of CL[+-]P in Shanghai. The birth incidence of nonsyndromic CL[+-]P (SHanghai 1980-87) was 1.11/1,000, with a male/female ratio of 1.42. Almost 2,000 nonsyndromic CL[+-]P probands were ascertained from individuals operated on during the years 1956-83 at surgical hospitals in Shanghai. Detailed family histories and medical examinations were obtained for the probands and all available family members. Genetic analysis of the probands' families were performed under the mixed model with major locus (ML) and multifactorial (MFT) components. The hypothesis of no familial transmission and of MFT alone could be rejected. Of the ML models, the autosomal recessive was significantly most likely and was assumed for testing three complex hypothesis: (1) ML and sporadics; (2) ML and MFT; (3) ML, MFT, and sporadics. None of the complex models were more likely than the ML alone model. In conclusion, the best-fitting, most parsimonious model for CL[+-]P in Shanghai was that of an autosomal recessive major locus. 37 refs., 1 tab.

  11. Clinical Outcomes of Primary Palatal Surgery in Children with Nonsyndromic Cleft Palate with and without Lip

    PubMed Central

    Ha, Seunghee; Koh, Kyung S.; Moon, Heewon; Jung, Seungeun; Oh, Tae Suk

    2015-01-01

    This study presents clinical outcomes of primary cleft palate surgery, including rate of oronasal fistula development, rate of velopharyngeal insufficiency (VPI) requiring secondary surgery, and speech outcomes. We examined the effect of cleft type on the clinical outcomes. Retrospective analysis was performed using clinical records of all patients who received a primary palatoplasty at the Cleft Palate Clinic at Seoul Asan Medical Center, South Korea, between 2007 and 2012. The study included 292 patients with nonsyndromic overt cleft palate (±cleft lip). The results revealed that the rate of oronasal fistula was 7.9% and the incidence of VPI based on the rate of secondary palatal surgery was 19.2%. The results showed that 50.3% of all the patients had received speech therapy and 28.8% and 51.4% demonstrated significant hypernasality and articulatory deficits, respectively. The results of the rate of VPI and speech outcomes were significantly different in terms of cleft type. Except for the rate of oronasal fistula, patients with cleft palate generally exhibited better clinical outcomes compared to those with bilateral or unilateral cleft lip and palate. This study suggests that several factors, including cleft type, should be identified and comprehensively considered to establish an optimal treatment regimen for patients with cleft palate. PMID:26273593

  12. Lesser forms of cleft lip associated with the branchio-oculo-facial syndrome.

    PubMed

    Lin, Angela E; Yuzuriha, Shunsuke; McLean, Scott; Mulliken, John B

    2009-03-01

    future clinical studies because the causative gene, TFAP2A, is known. Lesser forms of CL may be the most subtle expression of BOFS and assist in identifying patients. Unlike major forms of CL/P, either, syndromic or non syndromic, lesser forms suggest that the developmental insult occurs later in labial formation when fusion of the medial nasal process and maxillary process is nearly complete. The deficient vermilion-mucosa and hypoplastic orbicularis oris may be the result of incomplete or deficient mesodermal penetration of the ectodermal envelope. Another possible pathogenic explanation is that failure of labial closure occurs earlier than in a major cleft when the primitive cells of ectoderm and mesoderm retain the capacity to "heal" the defect.

  13. Postoperative analgesia for cleft lip and palate repair in children

    PubMed Central

    Reena; Bandyopadhyay, Kasturi Hussain; Paul, Abhijit

    2016-01-01

    Acute pain such as postoperative pain during infancy was ignored approximately three decades ago due to biases and misconceptions regarding the maturity of the infant's developing nervous system, their inability to verbally report pain, and their perceived inability to remember pain. More recently, these misconceptions are rarely acknowledged due to enhanced understanding of the developmental neurobiology of infant pain pathways and supraspinal processing. Cleft lip and palate is one of the most common congenital abnormalities requiring surgical treatment in children and is associated with intense postoperative pain. The pain management gets further complicated due to association with postsurgical difficult airway and other congenital anomalies. Orofacial blocks like infraorbital, external nasal, greater/lesser palatine, and nasopalatine nerve blocks have been successively used either alone or in combinations to reduce the postoperative pain. Since in pediatric population, regional anesthesia is essentially performed under general anesthesia, association of these two techniques has dramatically cut down the risks of both procedures particularly those associated with the use of opioids and nonsteroidal anti-inflammatory drugs. Definitive guidelines for postoperative pain management in these patients have not yet been developed. Incorporation of multimodal approach as an institutional protocol can help minimize the confusion around this topic. PMID:27006533

  14. Are we ready to predict speech development from babble in cleft lip and palate children?

    PubMed

    Hattee, C; Farrow, K; Harland, K; Sommerlad, B; Walsh, M

    2001-01-01

    The speech development of nine children with cleft lip/palate was followed longitudinally from nine months to three years of age. The results indicate speech sound development closer to the non-cleft population than previous studies. Nasal fricatives previously not extensively described in the literature may be an experimental stage of developmental babble, which spontaneously reduce. The study has added to the evidence-base for practice in one cleft unit. It may be useful to channel resources at our centre to children who at nine months may be more at risk, i.e. children with bilateral clefts and known developmental delay.

  15. Un Futuro Prometedor para su Nino con Labio Hendido y Paladar Hendido. Edicion Refundida (Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition).

    ERIC Educational Resources Information Center

    McDonald, Eugene T.; Berlin, Asa J.

    The booklet, written in Spanish, is intended to help parents of babies with cleft lip and/or cleft palate. Topics covered include the sequence of prenatal development and the effects of birth defects, common misconceptions about what causes the conditions, possible hereditary and environmental causes, and what it means to have a cleft palate or a…

  16. Treatment for Adults (with Cleft Lip and Palate)

    MedlinePlus

    ... throat, hearing, dentistry, speech, oral surgery, nursing, and psychology among others. You can obtain the names of ... of the cleft team, particularly the psychologist and social worker. Interaction with other adults with clefts, through ...

  17. Lip Height Improvement during the First Year of Unilateral Complete Cleft Lip Repair Using Cutting Extended Mohler Technique.

    PubMed

    Raposo-Amaral, Cassio Eduardo; Giancolli, André Pecci; Denadai, Rafael; Marques, Frederico Figueiredo; Somensi, Renato Salazar; Raposo-Amaral, Cesar Augusto; Alonso, Nivaldo

    2012-01-01

    Objective. To compare the cutaneous lip height at early and late postoperative periods and to objectively determine the average amount of lip height improvement during the first year of unilateral complete cleft lip repair using Cutting extended Mohler technique. Methods. In this prospective cohort study, 26 unilateral complete cleft patients and 50 noncleft subjects were included. Photographs were taken between 12 and 16 weeks (T1) and also taken between 12 and 13 months after surgery (T2). The cutaneous lip height distance (photogrammetric lip analysis) obtained in these two periods of time were measured and statistically analyzed. Results. The average lip heights were 24% ± 9% in T1 and 8% ± 6% in T2 (P < 0.01). The average lip height asymmetry in the noncleft individuals was 4.52% ± 1.89%. Conclusion. Since all principles to obtain a symmetrical Cupid's bow were performed, the postoperative pull-up of Cupid's bow is probably owed to the scar contracture, which improves by 2 times during the first year after surgery.

  18. Lip Height Improvement during the First Year of Unilateral Complete Cleft Lip Repair Using Cutting Extended Mohler Technique

    PubMed Central

    Raposo-Amaral, Cassio Eduardo; Giancolli, André Pecci; Denadai, Rafael; Marques, Frederico Figueiredo; Somensi, Renato Salazar; Raposo-Amaral, Cesar Augusto; Alonso, Nivaldo

    2012-01-01

    Objective. To compare the cutaneous lip height at early and late postoperative periods and to objectively determine the average amount of lip height improvement during the first year of unilateral complete cleft lip repair using Cutting extended Mohler technique. Methods. In this prospective cohort study, 26 unilateral complete cleft patients and 50 noncleft subjects were included. Photographs were taken between 12 and 16 weeks (T1) and also taken between 12 and 13 months after surgery (T2). The cutaneous lip height distance (photogrammetric lip analysis) obtained in these two periods of time were measured and statistically analyzed. Results. The average lip heights were 24% ± 9% in T1 and 8% ± 6% in T2 (P < 0.01). The average lip height asymmetry in the noncleft individuals was 4.52% ± 1.89%. Conclusion. Since all principles to obtain a symmetrical Cupid's bow were performed, the postoperative pull-up of Cupid's bow is probably owed to the scar contracture, which improves by 2 times during the first year after surgery. PMID:23316354

  19. The impact of cleft lip and palate repair on maxillofacial growth

    PubMed Central

    Shi, Bing; Losee, Joseph E

    2015-01-01

    Surgical correction is central to current team-approached cleft treatment. Cleft surgeons are always concerned about the impact of their surgical maneuver on the growth of the maxilla. Hypoplastic maxilla, concaved mid-face and deformed dental arch have constantly been reported after cleft treatments. It is very hard to completely circumvent these postoperative complications by current surgical protocols. In this paper, we discussed the factors that inhibit the maxillofacial growth on cleft patients. These factors included pre-surgical intervention, the timing of cleft palate and alveolae repair, surgical design and treatment protocol. Also, we made a review about the influence on the maxillary growth in un-operated cleft patients. On the basis of previous researches, we can conclude that most of scholars express identity of views in these aspects: early palatoplasty lead to maxilla growth inhibition in all dimensions; secondary alveolar bone graft had no influence on maxilla sagittal growth; cleft lip repair inhibited maxilla sagittal length in patients with cleft lip and palate; Veau's pushback palatoplasty and Langenbeck's palatoplasty with relaxing incisions were most detrimental to growth; Furlow palatoplasty showed little detrimental effect on maxilla growth; timing of hard palate closure, instead of the sequence of hard or soft palate repair, determined the postoperative growth. Still, scholars hold controversial viewpoints in some issues, for example, un-operated clefts have normal growth potential or not, pre-surgical intervention and pharyngoplasty inhibited maxillofacial growth or not. PMID:25394591

  20. CLEFT LIP, ALVEOLUS AND PALATE IN AFRICAN NATIVES: AN UPDATE ON DEMOGRAPHICS AND MANAGEMENT OUTCOME

    PubMed Central

    Akintububo, O.B.; Ojo, E.O.; Kokong, DD; Adamu, S.A.; Nnadozie, U.U; Yunusa-Kaltungo, Z; Jalo, I; Dauda, A.M

    2015-01-01

    Background Development of craniofacial structures is a complex process and disruption of any of the numerous steps can lead to development of oro-facial clefts. This is a surgically amenable anomaly as from early life that has had conflicting pattern of demographics reported by various researchers globally. There are several factors that are critical to the surgical outcome. Objective Study the demographics and the management outcome of cleft lip, alveolus and palate and highlight factors responsible for improved care in recent time. Design Descriptive cohort study. Setting Tertiary health institution Method All consecutive patients managed for cleft lip, alveolus and palate (CLAP) over 7years and 10months were studied. Outcome Cleft lip, alveolus and palate repair was performed on 149 patients, January 1, 2001– December 31, 2008 with an incidence of 2.1/1000 live births. From this, 27 patients, averaging 4.5 patients per year were operated for the first 6 1/3 years while the remaining 122(81.9%) the next 1 1/2 years, averaging 81.6 patients yearly. Their ages ranged from 3 months – 60 years with 77 (51.7%) males and 72 (48.3.0%) females. Cleft lip was the main presentation in 108(72.5%) of which 72(66.7%) were left sided. Bilateral cleft lip were14 (9.4%). Five (3.4%) patients had associated anomalies out of which 3(60.0%) had CLAP while 2(40.0%) isolated cleft lip or palate. The technique for cleft lip repair was Millard’s and Noordhoof’s while palatal cleft was the two-flap palatoplasty with intravelar veloplasty. Success was recorded in 142(95.3%) with complication observed in 7(4.7%) patients. Conclusion The rarity of cleft lip, alveolus and/or palate in the African native documented previously may no longer be tenable as observe in this study. Management outcome has improved owing to the collaboration with SmileTrain, USA, along with multidisciplinary approach. PMID:26709327

  1. Soft tissue response to orthognathic surgery in persons with unilateral cleft lip and palate.

    PubMed

    Ewing, M; Ross, R B

    1993-05-01

    Individuals with cleft lip and palate often require orthognathic surgery to establish facial harmony and optimal occlusal function. Surgery to the skeletal components of the face can accomplish predictable alterations in jaw relations. The soft tissue response to those skeletal movements, however, is difficult to predict, as it is also for the noncleft individual. In addition there is the variability of the repaired cleft lip. The study included 30 persons with complete unilateral cleft lip and palate, operated for midface deficiency using a Le Fort I maxillary advancement at a mean age of 18.0 years. Some relapse occurred in the immediate postoperative period, but after 1 year the mean advancement of the maxilla was 4.9 mm (best fit of anterior maxilla) and 5.6 mm (incisal edge). Both skeletal and soft tissue changes were negligible after that time. The ratio of upper lip advancement to underlying incisor advancement was 0.65 to 1. Although the lip response was highly correlated to the underlying bony movement, the variation was sufficient to preclude accurate prediction. The upper lip thinned with maxillary advancement, but this was not related to the original lip thickness. Coincident mandibular surgery had no appreciable effect on upper lip movement.

  2. A simple assessment method for auditing multi-centre unilateral cleft lip repairs.

    PubMed

    Kim, J B; Strike, P; Cadier, M C

    2011-02-01

    The aim of a cleft lip repair is to achieve a functional and aesthetically acceptable upper lip and nose appearance. However, the methods of assessing severity and outcome are still very subjective. Fortunately, it is recognised that human judgement can act as a very reliable tool in assessing facial attractiveness. Therefore, using a simple subjective assessment method, a multi-centre comparison study was performed. Following the Clinical Standards Advisory Group review (1998) and subsequent reconfiguration of the cleft services in the UK a tri-centre comparative audit, involving three out of the nine designated UK cleft centres, was set up. Photographs of 37 patients (consecutive where possible), with complete unilateral cleft lip defects from six regional cleft units (seven surgeons), taken preoperatively and then taken 5 years postoperatively were examined by 10 medical and 10 laypersons to rate the severity and perceived difficulty of repair preoperatively and aesthetic outcome postoperatively. This was repeated after 2 weeks. A five-point scale was used for the assessment. Weighted kappa scores were used to assess agreements within and between rater reliability. Results showed high levels of intra- and inter-rater reproducibility in both groups of raters. This technique was used as a ranking tool to assess the aesthetic outcomes of surgical repair and thereby rank surgeons within our supra-regional audit. This technique can be employed to aid education, stimulate research and also coordinate national inter-centre comparisons following cleft lip repairs.

  3. Esthetic, Functional, and Everyday Life Assessment of Individuals with Cleft Lip and/or Palate

    PubMed Central

    Papamanou, Despina A.; Karamolegkou, Marina; Dorotheou, Domna

    2015-01-01

    Objectives. To evaluate the level of satisfaction of individuals with cleft lip and/or palate (CLP) and their parents concerning the esthetic and functional treatment outcomes, the impact of the cleft on everyday life, and potential associations with treatment outcome satisfaction. Subjects and Methods. The sample consisted of 33 patients (7 CP, 20 unilateral CLP, and 6 bilateral CLP; median age: 17.1, range: 9.0–33.1 years) and 30 parents, who responded to a questionnaire in an interview-guided session. All participants received their orthodontic treatment at the Department of Orthodontics in the University of Athens. Results. Patients and their parents were quite satisfied with esthetics and function. Patients with UCLP primarily were concerned about nose esthetics (BCLP about lip esthetics and CP about speech). Increased satisfaction was associated with decreased influence of the cleft in everyday life (0.35 < rho < 0.64, P < 0.05). Parents reported significant influence of the cleft on family life, while patients did not. Conclusions. Despite the limited sample size of subgroups, the main concerns of patients with different cleft types and the importance of satisfying lip, nose, and speech outcomes for an undisturbed everyday life were quite evident. Thus, the need for targeted treatment strategies is highlighted for individuals with cleft lip and/or palate. PMID:26064918

  4. Lip Repair Surgery for Bilateral Cleft Lip and Palate in a Patient Diagnosed with Trisomy 13 and Holoprosencephaly.

    PubMed

    Akamatsu, Tadashi; Hanai, Ushio; Nakajima, Serina; Kobayashi, Megumi; Miyasaka, Muneo; Matsuda, Shinichi; Ikegami, Mariko

    2015-06-20

    We report a case of lip repair surgery performed for bilateral cleft lip and palate in a patient diagnosed with trisomy 13 and holoprosencephaly. At the age of 2 years and 7 months, the surgery was performed using a modified De Hann design under general anesthesia. The operation was completed in 1 h and 21 min without large fluctuations in the child's general condition. The precise measurement of the intraoperative design was omitted, and the operation was completed using minimal skin sutures. It is possible to perform less-invasive and short surgical procedures after careful consideration during the preoperative planning. Considering the recent improvements in the life expectancy of patients with trisomy 13, we conclude that surgical treatments for non-life threatening malformations such as cleft lip and palate should be performed for such patients.

  5. Defining predictors of cleft lip and palate risk.

    PubMed

    Yildirim, M; Seymen, F; Deeley, K; Cooper, M E; Vieira, A R

    2012-06-01

    Individuals with clefts present considerably more dental anomalies than individuals without clefts. We also have shown that these individuals report cancer in their families more often than do unaffected individuals. We investigated how these conditions correlated with genetic variants associated with clefts to ascertain if specific molecular signatures exist that could help identify individuals at risk for having offspring with these defects. We examined 573 individuals, 158 with clefts, 254 unaffected family members, and 161 non-related controls. Several clinical features, such as laterality, the presence of dental anomalies, medical history, and pregnancy history, were used to assess each individual's cleft status. Then, we performed molecular studies with genes that have been independently associated with oral clefts. We analyzed two datasets: nuclear families and case-control individuals where the case was the child from the family and controls were unrelated non-clefted individuals. In the family data, we confirmed association between clefts and rs987525 on chromosome 8 (p = 0.007) and found an association with rs987525 and tooth agenesis (p = 0.0003). In the case-control data, clefts, supernumerary teeth and familial cancer history were associated with ABCA4-rs481931 on chromosome 1 (p = 2E-19, 0.0007, 2E-06, respectively), and clefts and microdontia were associated with rs1325474 on chromosome 6 (p = 1E-06, 0.0002, respectively). PMID:22496123

  6. Nasopharyngeal Development in Patients with Cleft Lip and Palate: A Retrospective Case-Control Study

    PubMed Central

    Wermker, Kai; Jung, Susanne; Joos, Ulrich; Kleinheinz, Johannes

    2012-01-01

    Introduction. The aim of this paper was to evaluate cephalometrically the nasopharyngeal development of patients with complete unilateral cleft lip and palate. Influencing factors were evaluated and cleft to noncleft subjects were compared to each other. Material and Methods. The lateral cephalograms of 66 patients with complete cleft lip and palate were measured and compared retrospectively to the cephalograms of 123 healthy probands. Measurements were derived from a standardized analysis of 56 landmarks. Results. We observed significant differences between cleft and control group: the cleft patients showed amaxillary retroposition and a reduced maxillary length; the inclination of the maxilla was significantly more posterior and cranial; the anterior nasopharyngeal height was reduced; the nasopharyngeal growth followed a vertical tendency with reduced sagittal dimensions concerning hard and soft tissue. The velum length was reduced. In the cleft group, an accumulation of mandibular retrognathia and an anterior position of the hyoid were observed. Skeletal configuration and type of growth were predominantly vertical. Conclusions. Our data provides a fundamental radiological analysis of the nasopharyngeal development in cleft patients. It confirms the lateral cephalogram as a basic diagnostic device in the analysis of nasopharyngeal and skeletal growth in cleft patients. PMID:22523495

  7. A review of cleft lip and palate management: Experience of a Nigerian Teaching Hospital

    PubMed Central

    Efunkoya, Akinwale Adeyemi; Omeje, Kelvin Uchenna; Amole, Ibiyinka Olushola; Osunde, Otasowie Daniel; Akpasa, Izegboya Olohitae

    2015-01-01

    Background: Cleft lip (CL) and palate (CLP) management is multidisciplinary. A cleft team was formed in a Nigerian Tertiary Hospital to address the health needs of cleft patients in the centre. Aim: This paper aims at documenting the Aminu Kano Teaching Hospital (AKTH) management protocol for orofacial clefts and also to review our experience with CLP surgeries performed at AKTH since our partnering with Smile Train. Materials and Methods: A retrospective review of all the cleft patients surgically treated from January 2006 to December 2014 under Smile Train sponsorship was undertaken. A descriptive narrative of the cleft team protocol was also given. Results: One hundred and fifty-five patients (80 males, 75 females) had surgical repairs of either the lip or palate. CL patients were 83 (53.55%), while CLP patients were 45 (29.03%) and isolated cleft palate patients were 27 (17.42%). Conclusion: The inclusion of various specialities in the cleft team is highly desirable. Poverty level amongst our patients frequently limits our management to surgical treatment sponsored by the Smile Train, despite the presence of other residual problems. PMID:26712291

  8. Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome.

    PubMed

    Urban, M; Opitz, C; Bommer, C; Enders, H; Tinschert, S; Witkowski, R

    1998-09-23

    We report on a 13-year-old patient followed since birth. He is the only offspring of young, non-consanguineous German parents. His mother has an isolated left cleft of lip and a cleft palate. At birth, our patient presented with bilaterally cleft lip/cleft palate, phocomelia of upper limbs with normal hands, and mild symmetrical deficiencies of the long bones of the lower limbs. Haematological evaluation demonstrated a leukaemoid reaction during a urinary tract infection as well as intermittent thrombocytopenia and episodes of marked eosinophilia during the first two years of life. Intellectual development has been normal. Comparison with two similar cases from the literature suggests a non-random phenotypic overlap of Roberts syndrome (MIM 268300) and TAR syndrome (MIM 274000). Such clinical constellations may be key observations to understand the genetic relationship of Roberts syndrome and TAR syndrome in future phenotype-genotype correlations. PMID:9788553

  9. Straight line repair of unilateral cleft lip: new operative method based on 25 years experience.

    PubMed

    Nakajima, T; Tamada, I; Miyamoto, J; Nagasao, T; Hikosaka, M

    2008-08-01

    The resultant scar in the primary repair of unilateral cleft lip should ideally be straight and the mirror image of the philtrum on the non-cleft side. In 1993, we reported a new operative technique for unilateral cleft lip, in which we designed a straight line for the incision on the white lip. In order to produce the nostril floor, we used the white lip tissue in the area between the alar base and alveolus at the cleft side as a flap. We also used a small triangular flap above the white skin roll to prevent Cupid's peak from being drawn up. Unlike the rotation-advancement method, our technique does not leave a transverse scar at the alar base. Instead, it leaves a scar only along the line coincident with the natural philtral ridge. However, during observations of our patients, we noticed that the small triangular flap designed to be 1.5mm tended to become a conspicuous angular scar as the patients grew older. In addition, drooping of Cupid's peak on the cleft side was often observed with this small triangular flap. To make it less conspicuous, we made some modifications to the small flap above the white skin roll. With this new technique, we designed a semi-circular flap (1.5 x 3mm) above the white skin roll, instead of the small triangular flap. The suture line of our refined procedure draws a gentle curve, which looks almost straight because of skin elasticity. Moreover, the semi-circular flap causes less drooping of the upper lip than the triangular flap. We believe that revising the shape of the small flap on the white skin roll greatly improves patients' appearance. In this report, we present our refined techniques of primary repair of unilateral cleft lip.

  10. Unusual foreign body in the nasal cavity of an adult with repaired cleft lip and palate.

    PubMed

    Ravikumar, Nagabhairava; GunaShekhar, M; Prasad, S Raghavendra; Lalitha, N; Raju, P Ramanjaneya; Natesh, Y A

    2015-03-01

    Intranasal foreign bodies arising from dental clinical practice, especially in patients with cleft lip and palate (CLP) occur rarely and are very scarce in the literature. This article reports an unusual case of a dental impression material presenting as a foreign body in the nasal cavity of an adult with repaired CLP who presented for dental prosthetic rehabilitation. To our knowledge, this is only the second report presenting nasal foreign body in a cleft patient arising due to a dental impression procedure.

  11. Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6

    SciTech Connect

    Blanton, S.H.; Malcolm, S.; Winter, R.

    1996-01-01

    Nonsyndromic cleft lip with or without associate cleft palate (CLP) is a common craniofacial defect, occurring in {approximately}1/1,000 live births. While the defect generally occurs sporadically, multiplex families have been reported. Segregation analyses have demonstrated that, in some families, CLP is inherited as an autosomal dominant/codominant disorder with low penetrance. Several clefting loci have been proposed on multiple chromosomes, including 6p24, 4q, and 19q13.1. Association studies and linkage studies suggested a locus that mapped to 6p24. We were unable to confirm this in a linkage study of 12 multigenerational families. A subsequent linkage study by Carinci et al., however, found evidence for linkage to this region in 14 of 21 clefting families. Additionally, Davies et al. studied the chromosomes of three individuals with cleft lip and palate, all of whom had a rearrangement involving 6p24. Their investigation supported a locus at 6p24. Carinci et al. reported that the most likely position for a clefting locus was at D6S89, which is centromeric to EDN1. This is in contrast to the findings of Davies et al., who suggested a placement telomeric to EDN1. F13A, which had been implicated in the initial association studies, is telomeric to EDN1. Thus, the region between F13A and D6S89 encompasses the regions proposed by both Davies et al. and Carinci et al. A second clefting locus, at 4q, was proposed by Beiraghi et al., who studied a single multigenerational family by linkage analysis. Their data suggested a locus near D4S175 and D4S192. 10 refs., 1 tab.

  12. Evolution of my philosophy in the treatment of unilateral cleft lip and palate.

    PubMed

    Brusati, Roberto

    2016-08-01

    At the end of 50-year-long clinical activity, the evolution of my approach to the treatment of unilateral cleft of the lip and palate is discussed. I had several teachers in this field (Rusconi, Reherman, Perko, Delaire, Talmant, Sommerlad and others) and I introduced in my approach what I considered to be improvements from all of them. My current protocol is related to the anatomy of the cleft: for wide clefts a two-stage protocol is applied (1° step: soft palate and lip and nose repair; 2° step: hard palate repair with gingivoalveoloplasty); for narrow cleft (less than 1 cm at the posterior border of hard palate) an "all in one" protocol is performed with or without gingivoalveoloplasty (in accordance to the presence or absence of contact between the stumps at alveolar level). The most important details regarding surgery of the lip and palate are discussed. Robust data collection on speech and skeletal growth is still needed to determine whether the "all in one" approach can be validated as the treatment of choice for unilateral complete lip and palate cleft in selected cases.

  13. Evolution of my philosophy in the treatment of unilateral cleft lip and palate.

    PubMed

    Brusati, Roberto

    2016-08-01

    At the end of 50-year-long clinical activity, the evolution of my approach to the treatment of unilateral cleft of the lip and palate is discussed. I had several teachers in this field (Rusconi, Reherman, Perko, Delaire, Talmant, Sommerlad and others) and I introduced in my approach what I considered to be improvements from all of them. My current protocol is related to the anatomy of the cleft: for wide clefts a two-stage protocol is applied (1° step: soft palate and lip and nose repair; 2° step: hard palate repair with gingivoalveoloplasty); for narrow cleft (less than 1 cm at the posterior border of hard palate) an "all in one" protocol is performed with or without gingivoalveoloplasty (in accordance to the presence or absence of contact between the stumps at alveolar level). The most important details regarding surgery of the lip and palate are discussed. Robust data collection on speech and skeletal growth is still needed to determine whether the "all in one" approach can be validated as the treatment of choice for unilateral complete lip and palate cleft in selected cases. PMID:27318751

  14. Nostril Morphometry Evaluation before and after Cleft Lip Surgical Correction: Clinical Evidence

    PubMed Central

    Feijo, Mario Jorge Frassy; Brandão, Stella Ramos; Pereira, Rui Manoel Rodrigues; Santos, Mariana Batista de Souza; Justino da Silva, Hilton

    2014-01-01

    Introduction The purpose to this work is to review systematically the morphological changes of the nostrils of patients undergoing surgery for correction of cleft lip and identify in the literature the issues involved in the evaluation of surgical results in this population. Review of Literature A review was conducted, searching for clinical evidence from MEDLINE. The search occurred in January 2012. Selection criteria included original articles and research articles on individual subjects with cleft lip or cleft palate with unilateral nostril anthropometric measurements before and after surgical correction of cleft lip and measurements of soft tissues. There were 1,343 articles from the search descriptors and free terms. Of these, five articles were selected. Discussion Most studies in this review evaluated children in Eastern countries, using different measurement techniques but with the aid of computers, and showed improved nostril asymmetry postoperatively compared with preoperatively. Conclusion There is a reduction of the total nasal width postoperatively compared with preoperative measurements in patients with cleft lip. PMID:25992089

  15. Nostril Morphometry Evaluation before and after Cleft Lip Surgical Correction: Clinical Evidence.

    PubMed

    Feijo, Mario Jorge Frassy; Brandão, Stella Ramos; Pereira, Rui Manoel Rodrigues; Santos, Mariana Batista de Souza; Justino da Silva, Hilton

    2014-04-01

    Introduction The purpose to this work is to review systematically the morphological changes of the nostrils of patients undergoing surgery for correction of cleft lip and identify in the literature the issues involved in the evaluation of surgical results in this population. Review of Literature A review was conducted, searching for clinical evidence from MEDLINE. The search occurred in January 2012. Selection criteria included original articles and research articles on individual subjects with cleft lip or cleft palate with unilateral nostril anthropometric measurements before and after surgical correction of cleft lip and measurements of soft tissues. There were 1,343 articles from the search descriptors and free terms. Of these, five articles were selected. Discussion Most studies in this review evaluated children in Eastern countries, using different measurement techniques but with the aid of computers, and showed improved nostril asymmetry postoperatively compared with preoperatively. Conclusion There is a reduction of the total nasal width postoperatively compared with preoperative measurements in patients with cleft lip. PMID:25992089

  16. Modified Intraoral Repositioning Appliance in Complete Bilateral Cleft Lip and Palate

    PubMed Central

    Ahuja, NK; Gahlawat, Subhash

    2011-01-01

    Objective The purpose of the modified repositioning appliance was to overcome the shortcoming of existing design for repositioning protruded premaxilla in a child with bilateral cleft lip and palate. Methods The basic principles of design were similar to Latham’s appliance but the surgical pinning of premaxillary segment was avoided and instead acrylic splint was prepared. Conclusions This technique avoids any invasive procedure, is useful to reposition protruded premaxillary segment in bilateral cleft lip and palate cases specifically in child who reports late with deciduous dentition.

  17. Periodontal and prosthetic treatment of a cleft lip and palate patient: a case report.

    PubMed

    Santi, E; Weinberg, M A; Abitbol, T E

    1995-07-01

    Although cleft lip and palate patients are usually treated by a multidisciplinary team involving physicians and dentists, their periodontal condition may be over-looked. Crowded or malpositioned teeth, hypertrophic gingiva, orthodontic appliances, and prosthetic replacements can impede proper plaque removal and thus perpetuate periodontal disease. It is important to incorporate periodontal treatment into the comprehensive treatment as early as possible. This case report discusses the periodontal surgical procedures involved in eliminating a residual ridge defect and the fitting of the final prosthetic reconstruction. Also, the importance of the identification and management of periodontal conditions characteristic of cleft lip and palate patients before and after surgical, orthodontic, and prosthetic rehabilitation will be emphasized.

  18. Objective tools to analyze the lower lateral cartilage in unilateral cleft lip nasal deformities.

    PubMed

    Saleh, Mohamed A; Elshahat, Ahmed; Emara, Maher; Hussein, Heba; Gould, Lisa; Smith, David; Awad, Mostafa A

    2011-07-01

    Correction of cleft lip nasal deformity is an elusive goal. A controversy exists regarding the cause of the deformity, and therefore, there is a controversy of how to correct the deformity. Extrinsic theory is based on the presence of deformational forces from outside. The intrinsic theory is associated with deficiency of the lower lateral cartilage. The aim of this study was to use new objective tools to compare morphologically and histologically between the lower lateral cartilages of cleft and noncleft sides in patients with unilateral cleft lip nasal deformity. This study included 16 patients. They were operated on to correct unilateral cleft lip nasal deformity. Length, width, and thickness of lateral crura of the lower lateral cartilages of cleft and noncleft sides were measured. Punch biopsies from the middle part of the caudal ends of lateral crura were taken and sent for histologic and immunohistochemical studies. The lateral crura of the cleft side were significantly wider and shorter and tend to be thinner than those of the noncleft side. There was no significant difference in the chondroblast, chondrocyte, and total cellular number in the lower lateral cartilage of the cleft and noncleft sides. There was significantly less glycosaminoglycan content in the ground matrix of the lower lateral cartilage of cleft side. In conclusion, the use of digital sliding caliber in measuring the diminutions of the lower lateral cartilage and image analyzer to quantify the proteoglycans, glycosaminoglycans, fibroblast growth factor 18, and collagen content is very effective objective tools to compare the cleft and noncleft alar cartilage. PMID:21772161

  19. Nonsyndromic cleft lip and palate: No evidence of linkage to HLA or factor 13A

    SciTech Connect

    Hecht, J.T.; Yaping Wang; Connor, B.; Daiger, S.P. ); Blanton, S.H. Univ. of Virginia, Charlottesville )

    1993-06-01

    Nonsyndromic cleft lip with or without cleft palate (CLP) is a common craniofacial anomaly, the etiology of which is not known. Population studies have shown that a large proportion of cases occur sporadically. Recently, segregation analyses applied to CLP families have demonstrated that an autosomal dominant/codominant gene(s) may cause clefting in cases. Associations of autosomal dominant CLP and nonsyndromic cleft palate (CP) with HLA and F13A genes on chromosome 6p have been suggested previously. Linkage to these two areas on chromosome 6p were tested in 12 autosomal dominant families with CLP. With a LOD score of [minus]2 or less for exclusion, no evidence of linkage was found to four chromosome 6p markers. Multipoint analysis showed no evidence of a clefting locus in this region spanning 54 cM on chromosome 6p in these CLP families. 30 refs., 2 figs., 1 tab.

  20. Dual embryonic origin of maxillary lateral incisors: clinical implications in patients with cleft lip and palate

    PubMed Central

    Garib, Daniela Gamba; Rosar, Julia Petruccelli; Sathler, Renata; Ozawa, Terumi Okada

    2015-01-01

    Introduction: Cleft lip and palate are craniofacial anomalies highly prevalent in the overall population. In oral clefts involving the alveolar ridge, variations of number, shape, size and position are observed in maxillary lateral incisors. The objective of this manuscript is to elucidate the embryonic origin of maxillary lateral incisors in order to understand the etiology of these variations. Contextualization: The hypothesis that orofacial clefts would split maxillary lateral incisor buds has been previously reported. However, recent studies showed that maxillary lateral incisors have dual embryonic origin, being partially formed by both the medial nasal process and the maxillary process. In other words, the mesial half of the lateral incisor seems to come from the medial nasal process while the distal half of the lateral incisor originates from the maxillary process. In cleft patients, these processes do not fuse, which results in different numerical and positional patterns for lateral incisors relating to the alveolar cleft. In addition to these considerations, this study proposes a nomenclature for maxillary lateral incisors in patients with cleft lip and palate, based on embryology and lateral incisors position in relation to the alveolar cleft. Conclusion: Embryological knowledge on the dual origin of maxillary lateral incisors and the use of a proper nomenclature for their numerical and positional variations renders appropriate communication among professionals and treatment planning easier, in addition to standardizing research analysis. PMID:26560830

  1. Prevalence of oral habits in children with cleft lip and palate.

    PubMed

    Barsi, Paula Caroline; Ribeiro da Silva, Thaieny; Costa, Beatriz; da Silva Dalben, Gisele

    2013-01-01

    This study investigated the prevalence of oral habits in children with clefts aged three to six years, compared to a control group of children without clefts in the same age range, and compared the oral habits between children with clefts with and without palatal fistulae. The sample was composed of 110 children aged 3 to 6 years with complete unilateral cleft lip and palate and 110 children without alterations. The prevalence of oral habits and the correlation between habits and presence of fistulae (for children with clefts) were analyzed by questionnaires applied to the children caretakers. The cleft influenced the prevalence of oral habits, with lower prevalence of pacifier sucking for children with cleft lip and palate and higher prevalence for all other habits, with significant association (P < 0.05). There was no significant association between oral habits and presence of fistulae (P > 0.05). The lower prevalence of pacifier sucking and higher prevalence of other oral habits agreed with the postoperative counseling to remove the pacifier sucking habit when the child is submitted to palatoplasty, possibly representing a substitution of habits. There was no causal relationship between habits and presence of palatal fistulae.

  2. Prevalence of Oral Habits in Children with Cleft Lip and Palate

    PubMed Central

    Barsi, Paula Caroline; Ribeiro da Silva, Thaieny; Costa, Beatriz; da Silva Dalben, Gisele

    2013-01-01

    This study investigated the prevalence of oral habits in children with clefts aged three to six years, compared to a control group of children without clefts in the same age range, and compared the oral habits between children with clefts with and without palatal fistulae. The sample was composed of 110 children aged 3 to 6 years with complete unilateral cleft lip and palate and 110 children without alterations. The prevalence of oral habits and the correlation between habits and presence of fistulae (for children with clefts) were analyzed by questionnaires applied to the children caretakers. The cleft influenced the prevalence of oral habits, with lower prevalence of pacifier sucking for children with cleft lip and palate and higher prevalence for all other habits, with significant association (P < 0.05). There was no significant association between oral habits and presence of fistulae (P > 0.05). The lower prevalence of pacifier sucking and higher prevalence of other oral habits agreed with the postoperative counseling to remove the pacifier sucking habit when the child is submitted to palatoplasty, possibly representing a substitution of habits. There was no causal relationship between habits and presence of palatal fistulae. PMID:23533744

  3. Contributions of PTCH Gene Variants to Isolated Cleft Lip and Palate

    PubMed Central

    Mansilla, M.A.; Cooper, M.E.; Goldstein, T.; Castilla, E.E.; Camelo, J.S. Lopez; Marazita, M.L.; Murray, J.C.

    2007-01-01

    Objective Mutations in patched (PTCH) cause the nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome. Nevoid basal cell carcinoma syndrome may present with developmental anomalies, including rib and craniofacial abnormalities, and predisposes to several tumor types, including basal cell carcinoma and medulloblastoma. Cleft palate is found in 4% of individuals with nevoid basal cell carcinoma syndrome. Because there might be specific sequence alterations in PTCH that limit expression to orofacial clefting, a genetic study of PTCH was undertaken in cases with cleft lip and/or palate (CL/P) known not to have nevoid basal cell carcinoma syndrome. Results Seven new normal variants spread along the entire gene and three missense mutations were found among cases with cleft lip and/or palate. One of these variants (P295S) was not found in any of 1188 control samples. A second variant was found in a case and also in 1 of 1119 controls. The third missense (S827G) was found in 5 of 1369 cases and in 5 of 1104 controls and is likely a rare normal variant. Linkage and linkage desequilibrium also was assessed using normal variants in and adjacent to the PTCH gene in 220 families (1776 individuals), each with two or more individuals with isolated clefting. Although no statistically significant evidence of linkage (multipoint HLOD peak = 2.36) was uncovered, there was borderline evidence of significant transmission distortion for one haplotype of two single nucleotide polymorphisms located within the PTCH gene (p = .08). Conclusion Missense mutations in PTCH may be rare causes of isolated cleft lip and/or palate. An as yet unidentified variant near PTCH may act as a modifier of cleft lip and/or palate. PMID:16405370

  4. Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL [+-] P)

    SciTech Connect

    Shaw, D.; Field, L. ); Ray, A. ); Marazita, M. )

    1993-11-01

    Chenevix-Trench et al. (1992) reported a significant difference between nonsyndromic cleft lip with or without cleft palate (CL [+-] P) cases and unrelated controls in the frequency of alleles at the retinoic acid receptor alpha (RARA) PstI RFLP located at 17q21.1. They also observed borderline significant (P = .055) differences between allele frequencies in subjects with cleft lip and palate (CL + P) compared with those with cleft lip only (CL). Retinoic acid (RA) is a known teratogen capable of producing cleft palate in rodents (Abbott and Birnbaum 1990). Chenevix-Tench et al. (1992) hypothesized that variation in susceptibility to the effects of RA in humans may result from alterations at the RARA locus. We have investigated association and linkage between CL [+-] P and a microsatellite marker (D17S579) located at 17q21 (Hall et al. 1992), selected for its proximity to RARA, in 14 extended multiplex families from rural West Bengal, India.

  5. The Effect of Cleft Lip on Socio-Emotional Functioning in School-Aged Children

    ERIC Educational Resources Information Center

    Murray, Lynne; Arteche, Adriane; Bingley, Caroline; Hentges, Francoise; Bishop, Dorothy V. M.; Dalton, Louise; Goodacre, Tim; Hill, Jonathan

    2010-01-01

    Background: Children with cleft lip are known to be at raised risk for socio-emotional difficulties, but the nature of these problems and their causes are incompletely understood; longitudinal studies are required that include comprehensive assessment of child functioning, and consideration of developmental mechanisms. Method: Children with cleft…

  6. Bilingual Children with Nonsyndromic Cleft Lip and/or Palate: Language and Memory Skills

    ERIC Educational Resources Information Center

    Young, Selena Ee-Li; Purcell, Alison Anne; Ballard, Kirrie Jane; Liow, Susan Jane Rickard; Ramos, Sara Da Silva; Heard, Robert

    2012-01-01

    Purpose: Research shows that monolingual children with cleft lip and/or palate (CLP) have a higher incidence of cognitive-linguistic deficits, but it is not clear whether bilingual preschool children with CLP are especially vulnerable because they need to acquire 2 languages. We tested the hypothesis that bilingual children with CLP score lower…

  7. Educational Programming: A Seminar for Young Adults with Cleft Lip and/or Palate.

    ERIC Educational Resources Information Center

    Imhoff, Michael; And Others

    1981-01-01

    The social service staff of the H. K. Cooper Clinic (Lancaster, Pennsylvania) conducted a seminar for young adults with cleft lip and palate (CL/P) and their families. The seminar was designed to respond to questions and concerns regarding the impact of CL/P on employment, social relations, and genetics. (SB)

  8. Effect of Maxillary Osteotomy on Speech in Cleft Lip and Palate: Perceptual Outcomes of Velopharyngeal Function

    ERIC Educational Resources Information Center

    Pereira, Valerie J.; Sell, Debbie; Tuomainen, Jyrki

    2013-01-01

    Background: Abnormal facial growth is a well-known sequelae of cleft lip and palate (CLP) resulting in maxillary retrusion and a class III malocclusion. In 10-50% of cases, surgical correction involving advancement of the maxilla typically by osteotomy methods is required and normally undertaken in adolescence when facial growth is complete.…

  9. Perpendicular serial maxillary distraction osteogenesis in cleft lip and palate patients

    PubMed Central

    Ylikontiola, Leena P.; Sándor, George K.; Harila, Virpi

    2015-01-01

    Background: Cleft lip and palate patients often have a retruded maxilla with a severely narrowed deficient maxillary arch. This report aims to describe the management of severe maxillary retrusion and constriction in cleft lip and palate patients using distraction osteogenesis applied in serial sequence in two directions perpendicular to each other. Materials and Methods: Two adult male cleft lip and palate patients were treated with maxillary distraction osteogenesis in two stages. In the first stage, surgically assisted rapid palatal expansion with a tooth-borne device was performed to significantly expand the maxillary arch in the transverse dimension. After the teeth were orthodontically aligned, the horizontal distraction of the maxilla was made by two internal maxillary distraction devices. Results: In the first patient, the maxilla was initially widened by 11 mm and then distracted forward by 20 mm. Despite the breakage of the shaft of one of the two distractors at the end of distraction, a satisfactory occlusion was found at the time of distractor device removal. The maxillary position has remained stable through 8 years of follow-up. In the second patient, the palate was widened by 14 mm and the maxilla was distracted forward by 22 mm. The maxillary position has remained stable through 3 years of follow-up. Conclusion: Sequential serial distraction of maxilla in two planes perpendicular to each other is a safe and stable approach for the treatment of cleft lip and palate patients with severe transverse and anteroposterior discrepancies. PMID:26981462

  10. Associations between microRNA binding site SNPs in FGFs and FGFRs and the risk of non-syndromic orofacial cleft

    PubMed Central

    Li, Dandan; Zhang, Hongchuang; Ma, Lan; Han, Yue; Xu, Min; Wang, Zhendong; Jiang, Hongbing; Zhang, Weibing; Wang, Lin; Pan, Yongchu

    2016-01-01

    We hypothesized that microRNA binding site single nucleotide polymorphisms (SNPs) in fibroblast growth factors (FGFs) and their receptor genes (FGFRs) may affect microRNA and mRNA interactions and are thereby associated with susceptibility of non-syndromic orofacial cleft (NSOC). Ten SNPs among the FGF and FGFR genes were selected and their associations with NSOC susceptibility were investigated in a case-control study of 602 patients with NSOC and 605 healthy controls. FGF2/rs1048201, FGF5/rs3733336 and FGF9/rs546782 showed suggestive association with NSOC susceptibility. In the combination analysis, the observed odds ratios (ORs) decreased with the number of protective alleles (rs1048201-T, rs3733336-G and rs546782-T) but were not statistically significant beyond the first comparison. Hsa-miRNA-496, hsa-miRNA-145 and hsa-miRNA-187 were predicted to be miRNAs with binding sites within/near these SNPs and were expressed in lip tissues. Decreased FGF2, FGF5 and FGF9 expression was observed in three cell lines transfected with the corresponding miRNAs. Moreover, the three SNPs could contribute to differential binding efficacy between hsa-miRNA-496 and FGF2, hsa-miRNA-145 and FGF5, hsa-miRNA-187 and FGF9 in luciferase assay. The results suggest that FGF2/rs1048201, FGF5/rs3733336 and FGF9/rs546782 are associated with the risk of NSOC and that these miRNA-FGF interactions may affect NSOC development. PMID:27511275

  11. Implementation of standardized medical photography for cleft lip and palate audit.

    PubMed

    Jones, Marie; Cadier, Michael

    2004-12-01

    Much has been published relating to the treatment and surgical outcome of cleft lip and palate disorders. Clinical audit is one of the most important tools for assessing the quality of care provided, with medical photography an invaluable component of this process. The Clinical Standards Advisory Group Report 1998 recommended that cleft lip and palate patients should be audited when 0 (under 1 year of age), and then at the ages of 5, 10, 15 and 20 years. For both audit and research purposes, medical photographs need to be accurate and of a consistently high standard. This paper describes the development of a standardized photographic protocol for cleft patients of audit age, to the benefit of both the multidisciplinary team and the patients.

  12. Primary unilateral and bilateral cleft lip and nose in an older population.

    PubMed

    Rai, Kimit

    2005-01-01

    A one-stage procedure to reconstruct complete and incomplete unilateral/bilateral cleft lip and nose deformities is presented. Emphasis was made on closure of the lip muscles, correction of the nostril floor, correction of the alveolar cleft as well as reconstruction of the nose through an intranasal approach, with a supported suture technique for nasal correction. No dental or orthodontic treatment was available or performed in this older population. Emphasis was on primary closure of the muscles, using the rotation advancement principle. The repair that was performed was near anatomical, reconstructing the labial sulcus, the nostril floor, the alveolar cleft and the nasal deformity all in one stage. There was a high level of satisfaction both from the patient's and surgeon's point of view.

  13. In utero surgery for cleft lip/palate: minimizing the "Ripple Effect" of scarring.

    PubMed

    Lorenz, H Peter; Longaker, Michael T

    2003-07-01

    Surgical intervention is currently performed on highly selected fetuses with anatomical deformities that have a high mortality or severe morbidity when treated postnatally. In the future, in utero surgical intervention for non-life-threatening disease may become possible as fetal surgery becomes safer for the mother and fetus. Fetal cleft repair is an attractive intervention for plastic surgeons because it affords the potential to provide a scarless repair and correct the primary deformity. Furthermore, scarless fetal lip and palate repairs may prevent the ripple effect of postnatal scarring with its resultant secondary dentoalveolar and midface growth deformities. These potential benefits can dramatically reduce the number of postnatal reconstructive procedures in children with facial clefts. The rationale for a prenatal treatment approach to the patient with cleft lip/palate and the experimental evidence to support in utero intervention are discussed in this article.

  14. Initial counselling for cleft lip and palate: parents' evaluation, needs and expectations.

    PubMed

    Kuttenberger, J; Ohmer, J N; Polska, E

    2010-03-01

    During the first counselling after the birth of a child with cleft lip and palate (CLP) information about the malformation should be delivered and a long-standing relationship between the cleft team and the affected family must be established. The present study was conducted to evaluate the parents' experiences, needs and expectations with this first consultation. A questionnaire was sent to 105 parents at the cleft clinic, which could be answered anonymously. It collected demographic data, data on the parents' pre-existing level of information and the parents' assessment of the counselling at the cleft centre. Seventy percent of the questionnaires were returned. In 16% the clefts were diagnosed prenatally, in 32% there were relatives with clefts. Seventy-one percent of the parents received detailed counselling, 89% of which occurred in the first week. The parents requested that information about surgery (80%), feeding the child (63%) and the aetiology of clefts (44%) should be given. The quality of the consultation was rated very good or good by 87% of families. This study confirms the importance of initial counselling for CLP. The exceptional psychological situation of the family has to be considered and a close collaboration between cleft centre and maternity hospitals is mandatory.

  15. Dental anomalies in children with cleft lip and palate in Western Australia

    PubMed Central

    Nicholls, Wendy

    2016-01-01

    Objective: The purpose of this paper was to describe the prevalence and type of dental anomalies in the primary and permanent dentition in children with a cleft condition at Princess Margaret Hospital in Perth, Western Australia. Materials and Methods: The details of 162 current dental patients extracted from the main dental database through their year of birth for the period 1998–2001 were selected consecutively. Dental records and X-rays were examined by one examiner (WN) and verified by a second examiner (RB) to determine dental development. The mean age of the subjects was 10.8 years with equal numbers of males and females. Subjects were further divided into cleft type; unilateral cleft lip (UCL) and palate, bilateral cleft lip (BCL) and palate, UCL, BCL, and cleft palate. Results: One hundred sixty-two subjects were grouped into 21 categories of anomaly or abnormality. Prevalence rates for the categories were calculated for the overall group and for gender and cleft type. Conclusion: Overall, 94% of patients were found to have at least one dental anomaly, with fifty-six (34%) patients having more than one anomaly or abnormality. PMID:27095907

  16. Selection bias in genetic-epidemiological studies of cleft lip and palate

    SciTech Connect

    Christensen, K.; Holm, N.V.; Kock, K. ); Olsen, J. ); Fogh-Anderson, P.

    1992-09-01

    The possible impact of selection bias in genetic and epidemiological studies of cleft lip and palate was studied, using three nationwide ascertainment sources and an autopsy study in a 10% sample of the Danish population. A total of 670 cases were identified. Two national record systems, when used together, were found suitable for ascertaining facial cleft in live births. More than 95% ascertainment was obtained by means of surgical files for cleft lip (with or without cleft palate) without associated malformations/syndromes. However, surgical files could be a poor source for studying isolated cleft palate (CP) (only a 60% and biased ascertainment), and they cannot be used to study the prevalence of associated malformations or syndromes in facial cleft cases. The male:female ratio was 0.88 in surgically treated cases of CP and was 1.5 in nonoperated CP cases, making the overall sex ratio for CP 1.1 (95% confidence limits 0.86-1.4) The sex ratio for CP without associated malformation was 1.1 (95% confidence limits 0.84-1.6). One of the major test criteria in CP multifactorial threshold models (higher CP liability among male CP relatives) must be reconsidered, if other investigations confirm that a CP sex-ratio reversal to male predominance occurs when high ascertainment is achieved. 24 refs., 1 fig., 4 tabs.

  17. Prevalence and bacteriology of bacteremia associated with cleft lip and palate surgery.

    PubMed

    Adeyemo, Wasiu Lanre; Adeyemi, Michael O; Ogunsola, Folasade T; Ogunlewe, Mobolanle O; Ladeinde, Akinola L; Mofikoya, Bolaji O; Butali, Azeez

    2013-07-01

    The aim of the study was to determine the prevalence and bacteriology of bacteremia associated with cleft lip and palate (CLP) surgery. Three venous blood samples were obtained from 90 eligible subjects who presented for CLP surgery: before surgical incision, 1 minute after placement of the last suture, and 15 minutes thereafter. The samples were injected into an Oxoid Signal blood culture and transported to the laboratory for gram-positive/negative and aerobic/anaerobic bacteria analysis. Prevalence of bacteremia associated with cleft surgery was 38.1%. Prevalence rates of bacteremia in cleft lip surgery, cleft palate surgery, and alveoloplasty were 40.9%, 33.3%, and 50%, respectively. There was no significant difference in prevalence rate of positive blood culture in cleft lip surgery, cleft palate surgery, and alveoloplasty (P = 0.69). Positive blood culture was detected most frequently (47%) 1 minute after placement of the last suture. Of the 23 subjects who had positive blood culture at 1 minute, bacteremia persisted in 8 (35%) of them after 15 minutes. The most common bacteria isolated were coagulase-negative staphylococcus, Acinetobacter lwoffii, and coagulase-positive Staphylococcus aureus. Sex and age of the subjects, duration of surgery, blood loss, and type of cleft surgery were not significantly associated with positive blood culture. Bacteremia associated with CLP surgery is polymicrobial and persisted for at least 15 minutes after surgery in 35% of cases. This may reinforce the need for prophylactic antibiotics to protect at-risk patients from developing focal infection of the heart by oral flora.

  18. Birth prevalence of cleft lip and palate in British Columbia between 1952 and 1986: stability of rates.

    PubMed Central

    Lowry, R B; Thunem, N Y; Uh, S H

    1989-01-01

    We examined the birth prevalence of cleft lip with or without cleft palate and of isolated cleft palate in British Columbia between 1952 and 1986 using the data of the BC Health Surveillance Registry. The rates fluctuated over the study period, but linear trend analysis showed no increase or decrease for cleft lip with or without cleft palate; however, there was a significant increase for isolated cleft palate, attributed to improved ascertainment around 1963-66. Given the possible effects of newer agents used in both silviculture and agriculture, as well as the general concern over drugs and other environmental agents, such a long-term monitoring program is important. Furthermore, if significant clustering occurs, good background data are essential for comparison. The general public's perception is that the rates of birth defects are increasing. Our findings should give some reassurance with respect to orofacial clefts. PMID:2713802

  19. Nasolabial symmetry and aesthetics in children with complete unilateral cleft lip and palate.

    PubMed

    Fudalej, Piotr; Katsaros, Christos; Hozyasz, Kamil; Borstlap, Wilfred A; Kuijpers-Jagtman, Anne Marie

    2012-10-01

    The objective of this study was to evaluate the association between nasolabial symmetry and aesthetics in children with complete unilateral cleft lip and palate (CUCLP). Frontal and basal photographs of 60 consecutively treated children with CUCLP (cleft group: 41 boys and 19 girls, mean (SD) age 11 (2) years) and 44 children without clefts (control group: 16 boys and 28 girls, mean (SD) age 11(2) years), were used for evaluation of nasolabial symmetry and aesthetics. Nasal and labial measurements were made to calculate the coefficient of asymmetry (CA). The 5-grade aesthetic index described by Asher-McDade et al. was used to evaluate nasolabial appearance. Correlation and regression analysis were used to identify an association between aesthetics and CA, sex, and the presence of CUCLP. Ten measurements in the cleft, and 2 in the control, group differed significantly between the cleft and non-cleft (or right and left) sides, respectively. The significantly higher values of 9 of 11 CA in the children with CUCLP indicated that they had more asymmetrical nasolabial areas than children without clefts. However, the regression analyses showed that only a few CA were associated with nasolabial aesthetics. In conclusion, nasolabial aesthetics and nasolabial symmetry seem to be only weakly associated in patients with CUCLP.

  20. Establishing an antenatal group for families with a diagnosis of cleft lip.

    PubMed

    Douglas, Lynn

    2012-06-01

    U.K. cleft teams offer antenatal packages of care, which seek to be research based and respond locally to national standards of care set by the U.K. cleft nurse's special interest group (SIG). In April 2010 the 18-to-20-week National Health Service (NHS) Foetal Anomaly Ultrasound Scan Programme (FASP) standards and guidance for England were changed to include routine screening of the face to improve national pick up rates for cleft lip, which should increase referrals to cleft teams. This article aims to discuss the development of a specialist cleft antenatal group, established as a collaborative project between clinical nurse specialists (CNS) and clinical psychologists in the north-west England, Isle of Man and North Wales (NWNW) Cleft Network. Two pilot groups ran in 2008. Families referred to the team in the antenatal period were invited to attend a 'one-off' group before their child's birth. The group aim was to facilitate parental adjustment to cleft diagnosis in the antenatal period. Regular groups were then established in both network surgical hubs (Alder Hey and Royal Manchester Children's Hospitals (AHCH and RMCH)) every three or four months as part of the routine package of care provided by the team. Attendance at these groups ranged from 30-50% of those invited between 2008 to 2011. Feedback forms from attendees have informed the evolution of the group. The groups facilitate peer support at an important adjustment time for families.

  1. Replication of 13q31.1 Association in Nonsyndromic Cleft Lip with Cleft Palate in Europeans

    PubMed Central

    Cooper, Margaret E.; Butali, Azeez; Standley, Jennifer; Rigdon, Jennifer; Suzuki1, Satoshi; Gongorjav, Ayana; Shonkhuuz, T. Enkhtur; Natsume, Nagato; Shi, Bing; Marazita, Mary L.; Murray, Jeffrey C.

    2015-01-01

    Genome wide association (GWA) studies have successfully identified at least a dozen loci associated with orofacial clefts. However, these signals may be unique to specific populations and require replication to validate and extend findings as a prelude to etiologic SNP discovery. We attempted to replicate the findings of a recent meta-analysis of orofacial cleft GWA studies using four different ancestral populations. We studied 946 pedigrees (3436 persons) of European (US white and Danish) and Asian (Japanese and Mongolian) origin. We genotyped six SNPs which represented the most significant P value associations identified in published studies: rs742071 (1p36), rs7590268 (2p21), rs7632427 (3p11.1), rs12543318 (8q21.3), rs8001641 (13q31.1) and rs7179658 (15q22.2). We directly sequenced three non-coding conserved regions 200kb downstream of SPRY2 in 713 cases, 438 controls, and 485 trios from the US, Mongolia, and the Philippines. We found rs8001641 to be significantly associated with cleft lip with cleft palate (NSCLP) in Europeans (p-value=4 × 10−5, ORtransmission=1.86 with 95% confidence interval: 1.38-2.52). We also found several novel sequence variants in the conserved regions in Asian and European samples, which may help to localize common variants contributing directly to the risk for NSCLP. This study confirms the prior association between rs8001641 and NSCLP in European populations. PMID:25786657

  2. An evaluation of factors influencing feeding in babies with a cleft palate with and without a cleft lip.

    PubMed

    Martin, Vanessa; Greatrex-White, Sheila

    2014-03-01

    The objective of this article was to determine the impact of different bottles and teats for feeding babies with a cleft palate (with and without a cleft lip) on weight velocity, feeding behaviour, and maternal self-esteem. A mixed methods study incorporating the use of diaries to record feeding patterns of babies and levels of professional support received was used. Growth was assessed by converting weights into standard deviation scores and using the differences to express weight velocity over a six-week period. Visual analogue scales were used to assess mothers' perceptions of their children and themselves. The Edinburgh Postnatal Depression Score (EPDS) was used to identify maternal depression. The study demonstrated that the most significant effect on weight was determined by cleft type. Babies with isolated clefts of the hard and soft palate experienced greater feeding problems and suffered the biggest weight losses. This remained significant independently of the type of bottle/teat used. Poor weight gain was also associated with a mother's low perception of herself and her child, and her tendency towards depression. The study highlights the importance of the early assessment of babies' feeding skills and regular follow-up and support from trained and experienced nurse specialists. PMID:23439590

  3. Clinical and Radiographic Assessment of Secondary Bone Graft Outcomes in Cleft Lip and Palate Patients

    PubMed Central

    Khalil, W.; de Musis, C. R.; Volpato, L. E. R.; Veiga, K. A.; Vieira, E. M. M.; Aranha, A. M.

    2014-01-01

    Purpose. To compare the results of secondary alveolar bone grafts in patients with complete cleft lip and cleft lip and palate using 2 radiographic scales and according to the rate of canine eruption through the newly formed bone. Materials and Methods. We analyzed pre- and postoperative radiographs of 36 patients for the amount of bone in the cleft site according to the Bergland and Chelsea scales. The associations between the variables and the correlation between the scales were measured. Results. A total of 54.2% and 20.8% of cases were classified as type I and type II, respectively, using the Bergland scale, whereas 50% and 22.5% were classified as types A and C, respectively, using the Chelsea scale. A positive correlation between the 2 scales was observed. In 33.3% of males, 58.3% of females, 54.5% of unilateral cleft cases, and 12.5% of bilateral cleft cases, the permanent canines had erupted. Bone grafts performed prior to canine eruption achieved more satisfactory results. Conclusions. Our results suggest that both radiographic scales are important tools for the evaluation of bone grafts. Additionally, longer time periods of evaluation were associated with improved results for patients with secondary alveolar bone grafts. PMID:27351004

  4. Duplication of mental nerve in a patient with cleft lip-palate and rubella syndrome.

    PubMed

    Goodday, R H; Precious, D S

    1988-02-01

    A case of duplication of the mental nerve in a patient with cleft lip, cleft palate, and rubella syndrome is presented. The most vulnerable period of fetal infection by rubella virus corresponds with the critical period of development of the maxilla, mandible, and corresponding orofacial structures. The significance of duplication of the mental nerve is discussed in relation to the influence that this anatomic structure has on the growth and development of the mandible. The concept of activisms to explain such anomalies is reviewed.

  5. [Orofacial closure defects: cleft lip and palate. A literature review].

    PubMed

    Díaz Casado, G H; Díaz Grávalos, G J

    2013-01-01

    Orofacial clefts are a common problem that can lead to significant healthcare use and costs, as well as suffering on the part of the affected individuals and families. There are several theories explaining their origin, but some of the findings are inconsistent. The most accepted theories involve a major genetic basis that could be modified by the presence of external agents. Understanding the underlying causes could help to prevent its occurrence, an area in which the family physician can play an important role.

  6. Base of the skull morphology and Class III malocclusion in patients with unilateral cleft lip and palate

    PubMed Central

    Tinano, Mariana Maciel; Martins, Milene Aparecida Torres Saar; Bendo, Cristiane Baccin; Mazzieiro, Ênio

    2015-01-01

    OBJECTIVE: The aim of the present study was to determine the morphological differences in the base of the skull of individuals with cleft lip and palate and Class III malocclusion in comparison to control groups with Class I and Class III malocclusion. METHODS: A total of 89 individuals (males and females) aged between 5 and 27 years old (Class I, n = 32; Class III, n = 29; and Class III individuals with unilateral cleft lip and palate, n = 28) attending PUC-MG Dental Center and Cleft Lip/Palate Care Center of Baleia Hospital and PUC-MG (CENTRARE) were selected. Linear and angular measurements of the base of the skull, maxilla and mandible were performed and assessed by a single calibrated examiner by means of cephalometric radiographs. Statistical analysis involved ANCOVA and Bonferroni correction. RESULTS: No significant differences with regard to the base of the skull were found between the control group (Class I) and individuals with cleft lip and palate (P > 0.017). The cleft lip/palate group differed from the Class III group only with regard to CI.Sp.Ba (P = 0.015). Individuals with cleft lip and palate had a significantly shorter maxillary length (Co-A) in comparison to the control group (P < 0.001). No significant differences were found in the mandible (Co-Gn) of the control group and individuals with cleft lip and palate (P = 1.000). CONCLUSION: The present findings suggest that there are no significant differences in the base of the skull of individuals Class I or Class III and individuals with cleft lip and palate and Class III malocclusion. PMID:25741829

  7. Facial soft-tissue morphology of adolescent patients with nonsyndromic bilateral cleft lip and palate.

    PubMed

    Hasanzadeh, Nadia; Majidi, Mohammad Reza; Kianifar, Hamidreza; Eslami, Neda

    2014-01-01

    The purpose of this study was to cephalometrically evaluate the facial soft-tissue characteristics of adolescent patients with bilateral cleft lip and palate (BCLP) and to compare them with a noncleft control group. Lateral cephalometric radiographs obtained from 56 adolescents with nonsyndromic BCLP (29 boys and 27 girls) were analyzed and compared with 67 control subjects (29 boys and 38 girls) who were matched for sex, age, and ethnicity. All patients had been operated on before the age of 2 years for the surgical repair of cleft lip and palate. None had received any orthopedic or orthodontic treatment. Independent-samples t test revealed that patients with BCLP significantly differed from the control group by having a flatter facial profile, thinner and more retruded nasal base, flatter nasal tip (in males), and reduced upper-lip length. Furthermore, thicker lower-lip pit, shallower mentolabial sulcus, and increased inclination angles of the upper and lower lips relative to the horizontal plane were observed in female patients compared with the normal group. The findings of the current study suggested that adolescent patients with BCLP showed several facial soft-tissue deformities when compared with normal individuals with the same age, sex, and ethnic origin. This study provides objective measures that could lead to better treatment planning and prediction of the need for corrective surgeries in patients with BCLP.

  8. Comprehensive Orthodontic Treatment of Adult Patient with Cleft Lip and Palate

    PubMed Central

    Leiva Villagra, Noemí; Muñoz Domon, Miguel; Véliz Méndez, Sebastian

    2014-01-01

    The aim of the paper is to present full orthodontic treatment of an operated cleft lip adult patient. Case Report. An 18-year-old patient consulted for severe crowded teeth. He comes from a poor family. At that time he already had four operations (velum, palate, lip, and myringotomy). Treatment included maxillary expansion, tooth extraction, and fixed orthodontic, as well as kinesiology and speech therapy treatment. A multidisciplinary approach allowed us to achieve successfully an excellent result for this patient and gave him a harmonic smile and an optimal function without orthognathic surgery. Two years after treatment, occlusion remains stable. PMID:25544903

  9. Comprehensive orthodontic treatment of adult patient with cleft lip and palate.

    PubMed

    Leiva Villagra, Noemí; Muñoz Domon, Miguel; Véliz Méndez, Sebastian

    2014-01-01

    The aim of the paper is to present full orthodontic treatment of an operated cleft lip adult patient. Case Report. An 18-year-old patient consulted for severe crowded teeth. He comes from a poor family. At that time he already had four operations (velum, palate, lip, and myringotomy). Treatment included maxillary expansion, tooth extraction, and fixed orthodontic, as well as kinesiology and speech therapy treatment. A multidisciplinary approach allowed us to achieve successfully an excellent result for this patient and gave him a harmonic smile and an optimal function without orthognathic surgery. Two years after treatment, occlusion remains stable.

  10. Cleft lip with or without cleft palate: Associations with transforming growth factor alpha and retinoic acid receptor loci

    SciTech Connect

    Chenevix-Trench, G.; Jones, K. Univ. of Queensland ); Green, A.C.; Duffy, D.L.; Martin, N.G. )

    1992-12-01

    The first association study of cleft lip with or without cleft palate (CL/P), with candidate genes, found an association with the transforming growth-factor alpha (TGFA) locus. This finding has since been replicated, in whole or in part, in three independent studies. Here the authors extend their original analysis of the TGFA TaqI RFLP to two other TGFA RFLPs and seven other RFLPs at five candidate genes in 117 nonsyndromic cases of CL/P and 113 controls. The other candidate genes were the retinoic acid receptor (RARA), the bcl-2 oncogene, and the homeobox genes 2F, 2G, and EN2. Significant associations with the TGFA TaqI and BamHI RFLPs were confirmed, although associations of clefting with previously reported haplotypes did not reach significance. Of particular interest, in view of the known teratogenic role of retinoic acid, was a significant association with the RARA PstI RFLP (P = .016; not corrected for multiple testing). The effect on risk of the A2 allele appears to be additive, and although the A2A2 homozygote only has an odds ratio of about 2 and recurrence risk to first-degree relatives ([lambda][sub 1]) of 1.06, because it is so common it may account for as much as a third of the attributable risk of clefting. There is no evidence of interaction between the TGFA and RARA polymorphisms on risk, and jointly they appear to account for almost half the attributable risk of clefting. 43 refs., 1 fig., 4 tabs.

  11. Spectral Analysis of Word-Initial Alveolar and Velar Plosives Produced by Iranian Children with Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Eshghi, Marziye; Zajac, David J.; Bijankhan, Mahmood; Shirazi, Mohsen

    2013-01-01

    Spectral moment analysis (SMA) was used to describe voiceless alveolar and velar stop-plosive production in Persian-speaking children with repaired cleft lip and palate (CLP). Participants included 11 children with bilateral CLP who were undergoing maxillary expansion and 20 children without any type of orofacial clefts. Four of the children with…

  12. The Impact of Early Infant Jaw-Orthopaedics on Early Speech Production in Toddlers with Unilateral Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Lohmander, Anette; Lillvik, Malin; Friede, Hans

    2004-01-01

    The purpose of study was to investigate the impact of pre-surgical Infant Orthopaedics (IO) on consonant production at 18 months of age in children with Unilateral Cleft Lip and Palate (UCLP) and to compare the consonant production to that of age-matched children without clefts. The first ten children in a consecutive series of 20 with UCLP…

  13. Joint Testing of Genotypic and Gene-Environment Interaction Identified Novel Association for BMP4 with Non-Syndromic CL/P in an Asian Population Using Data from an International Cleft Consortium

    PubMed Central

    Chen, Qianqian; Wang, Hong; Schwender, Holger; Zhang, Tianxiao; Hetmanski, Jacqueline B.; Chou, Yah-Huei Wu; Ye, Xiaoqian; Yeow, Vincent; Chong, Samuel S.; Zhang, Bo; Jabs, Ethylin Wang; Parker, Margaret M.; Scott, Alan F.; Beaty, Terri H.

    2014-01-01

    Background Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common disorder with complex etiology. The Bone Morphogenetic Protein 4 gene (BMP4) has been considered a prime candidate gene with evidence accumulated from animal experimental studies, human linkage studies, as well as candidate gene association studies. The aim of the current study is to test for linkage and association between BMP4 and NSCL/P that could be missed in genome-wide association studies (GWAS) when genotypic (G) main effects alone were considered. Methodology/Principal Findings We performed the analysis considering G and interactions with multiple maternal environmental exposures using additive conditional logistic regression models in 895 Asian and 681 European complete NSCL/P trios. Single nucleotide polymorphisms (SNPs) that passed the quality control criteria among 122 genotyped and 25 imputed single nucleotide variants in and around the gene were used in analysis. Selected maternal environmental exposures during 3 months prior to and through the first trimester of pregnancy included any personal tobacco smoking, any environmental tobacco smoke in home, work place or any nearby places, any alcohol consumption and any use of multivitamin supplements. A novel significant association held for rs7156227 among Asian NSCL/P and non-syndromic cleft lip and palate (NSCLP) trios after Bonferroni correction which was not seen when G main effects alone were considered in either allelic or genotypic transmission disequilibrium tests. Odds ratios for carrying one copy of the minor allele without maternal exposure to any of the four environmental exposures were 0.58 (95%CI = 0.44, 0.75) and 0.54 (95%CI = 0.40, 0.73) for Asian NSCL/P and NSCLP trios, respectively. The Bonferroni P values corrected for the total number of 117 tested SNPs were 0.0051 (asymptotic P = 4.39*10−5) and 0.0065 (asymptotic P = 5.54*10−5), accordingly. In European trios, no significant

  14. Phonological Processes in the Speech of Jordanian Arabic Children with Cleft Lip and/or Palate

    ERIC Educational Resources Information Center

    Al-Tamimi, Feda Y.; Owais, Arwa I.; Khabour, Omar F.; Khamaiseh, Zaidan A.

    2011-01-01

    The controlled and free speech of 15 Jordanian male and female children with cleft lip and/or palate was analyzed to account for the different phonological processes exhibited. Study participants were divided into three main age groups, 4 years 2 months to 4 years 7 months, 5 years 3 months to 5 years 6 months, and 6 years 4 months to 6 years 6…

  15. [The experience of complex treatment of children with bilateral cleft lip and palate].

    PubMed

    Supiev, T K; Mamedov, A A; Negametzianov, N G; Nurmaganov, S B; Utepov, D K; Katasonova, E S; Kozhabekov, E M

    2014-01-01

    Three grades of premaxilla deformation were revealed in children with bilateral cleft lip and palate. All patients with grade I and some children with grade II deformation received early orthopedic treatment by Sharova appliance while in patients with grade III deformation orthodontic devices with bone fixation with microimplants were used or microimplants alone for orthodontic anchorage. This approach allowed achieving full side contact of premaxilla and maxillary fragments in 1-2 months thus creating favorable conditions for surgical procedure.

  16. Prevalence and management of natal/neonatal teeth in cleft lip and palate patients

    PubMed Central

    Yilmaz, R. Burcu Nur; Cakan, Derya Germec; Mesgarzadeh, Nasim

    2016-01-01

    Objective: The aim of this study was to determine the prevalence and distribution of natal/neonatal teeth in infants with cleft lip and palate (CLP) according to gender, involving jaw and side and to show the management of some cases. Materials and Methods: A retrospective study was carried out on medical history and photographic records of 69 infants with CLP, who were treated at the CLP clinic of Yeditepe University between years 2014–2015. The presence of neonatal teeth was determined, and if present the gender, type of cleft, and position were recorded. Statistical analysis was performed. Results: Neonatal teeth were observed in 7% of the study group. No significant differences were found between cleft types and gender (P > 0.05). The prevalence of neonatal teeth in bilateral, unilateral and isolated cleft type was 16.5%, 6.5%, and none, respectively. All neonatal teeth were located in the maxilla and on the cleft-side (100%). Conclusion: The presence of natal/neonatal teeth in infants with CLP was not rare. In all of these cases the teeth were located adjacent to the cleft region. In isolated palatal cleft, where the alveolar region including the teeth buds are away from the cleft, no neonatal teeth were observed. It may be concluded that neonatal teeth in infants with CLP are frequently present and located inside the borders of the presurgical orthopedic treatment (POT) plate. Therefore, if possible, immediate extraction of the neonatal teeth is advised or if not possible because of systemic health reasons, modifications of the plate are required. PMID:27011740

  17. 4p- syndrome and 9p tetrasomy mosaicism with cleft lip and palate.

    PubMed

    Kobayashi, J; Kimijima, Y; Yamada, S; Amagasa, T; Saito-Ohara, F

    2000-06-01

    Chromosome 4p- syndrome is a multiple malformation syndrome associated with partial deletion of the short arm of chromosome 4 (4p-). It is characterized by dysmorphic features and retarded development. Cleft lip and/or palate are the major clinical manifestations. Cases of tetrasomy 9p are extremely rare; the principal clinical manifestations of this condition are characteristic craniofacial abnormalities, generalized hypotonia and severe mental retardation. We present the first case of a female infant with 4p deletion and tetrasomy 9p mosaicism, exhibiting a left-sided cleft lip, alveolus and soft palate. Karyotype analysis of lymphocytes cultured from the patient revealed that she was mosaic: 86% of the cells were 46, XX, add (4) (p15.32) and 14% were 47, XX, add (4) (p15.32), +idic (9)(q12). The G-banding pattern appeared consistent with either translocation or partial proximal deletion of 4p. In order to make a definitive cytogenetic diagnosis of isodicentric chromosome 9, fluorescence in situ hybridization (FISH) was applied. At 8 months, when the patient weighed 4.3 kg, her cleft lip was repaired. Before and after surgery there were no seizures, and the postoperative course was uneventful. PMID:10964553

  18. Three-dimensional nasal morphology in cleft lip and palate operated adult patients.

    PubMed

    Ferrario, Virgilio F; Sforza, Chiarella; Dellavia, Claudia; Vizzotto, Laura; Carù, Armando

    2003-10-01

    Nasal morphology was assessed three-dimensionally in 18 cleft lip and palate operated patients aged 19 to 27 years, and in 161 sex- and age-matched control subjects. Comparisons were performed by Student t and Watson-Williams' tests. No differences were found in nasal volume or surface. Nasal width, alar base width, and inferior width of the nostrils were significantly larger in male patients than in the reference men. The nasal bridge was shorter. Similar differences were found in the female patients. In addition, the right nostril was larger and the nasal height shorter. In men, the nasolabial and the nasal tip angles were smaller in the patients than in the reference subjects, whereas the facial convexity angle was larger in the patients. In conclusion, the nose of adult operated cleft lip and palate patients differed from that of normal control subjects. Surgical corrections of the cleft lip and palate failed to provide a completely normal appearance. The methods might be used to indicate where additional procedures might be performed to approximate a reference population.

  19. Use of anterior maxillary distraction osteogenesis in two cleft lip and palate patients

    PubMed Central

    Srivastava, Dhirendra; Ghassemi, Alireza; Ghassemi, Mehrangiz; Showkatbakhsh, Rahman; Jamilian, Abdolreza

    2015-01-01

    Distraction osteogenesis (DO) has become a mainstream surgical technique for patients with jaw deformities. The aim of this study was to report the effect of DO done by a hyrax screw incorporated in an acrylic plate in the treatment of two maxillary deficient cases with cleft lip and palate. Two patients, a 24-year-old female and a 29-year-old male who suffered from maxillary deficiency and cleft lip and palate, were treated by DO. After making vertical cuts between the premolars on both sides and horizontal cuts similar to Le Fort 1, a hyrax screw was mounted on an acrylic plate for the slow anteroposterior expansion of maxillary arch. The expansion was achieved by turning the hyrax screw 0.8 mm per day after the latency period. Treatment was discontinued after achieving satisfactory over jet and occlusion. This study showed that anterior maxillary distraction is a reliable technique for correction of midfacial deformity arising out of cleft lip and palate. Incidences of complications are negligible compared to total maxillary distraction. PMID:26668459

  20. Facial growth in patients with bilateral cleft lip and palate: a cephalometric study.

    PubMed

    Heidbüchel, K L; Kuijpers-Jagtman, A M; Freihofer, H P

    1994-05-01

    In this study, sagittal facial growth of bilateral cleft lip and palate (BCLP) patients between 6 and 20 years of age is analyzed. The data of Nijmegen were derived from 131 lateral cephalograms taken in 21 BCLP patients who were treated in the Cleft Lip and Palate Center of the University Hospital of Nijmegen. Reported data of 90 BCLP patients treated at the Center of Oslo were used as a reference for comparison. Results of this investigation showed mandibular growth to be similar in both centers. In the premaxillary region some differences were found: The Nijmegen patients presented a more protrusive premaxilla than those at Oslo. The upper front teeth and hence, the premaxilla, were more retroclined in the Nijmegen sample. There were also statistically significant differences in the soft tissue profile. The mean z-score was positive for the nasolabial angle and negative for the angle N'-Sn-Pg'. At 18 years of age, these differences are still apparent. In comparison with Broadbent's values of normal individuals, the SNPg-angle was smaller and the mandibular angle greater in Nijmegen and Oslo. The profiles of the BCLP patients are more convex in Nijmegen and more concave in Oslo than in the noncleft group. Finally, the different treatment strategies of the Cleft Lip and Palate Centers of Nijmegen and Oslo are compared and discussed in terms of their long-term results.

  1. Orthodontic characteristics of maxillary arch deficiency in 5-year-old patients undergoing unilateral cleft lip and palate repair with and without early gingivoplasty.

    PubMed

    Wojtaszek-Slominska, Anna; Renkielska, Alicja; Dobke, Marek; Gosman, Amanda; Slominski, Wojciech

    2010-04-01

    The purpose of this study was to compare the maxillary arch morphology in 5-year-old children treated for unilateral cleft lip and palate (UCLP) with early gingivoplasty (EGP) and without this procedure (non-EGP). Three-dimensional (3-D) imaging was used to verify which measurements and to what degree specific orthodontic parameters differ in both groups. The study included 120 non-syndromic 4.5-5.5-year-old children treated surgically at the age of 6-18 months. Fifty-six children underwent EGP utilising a Skoog-type of technique. The (non-EGP) group consisted of 64 patients. Patients in both groups were treated without nasoalveolar moulding prior to cleft lip repair. The maxillary arch models were obtained and subjected to the 3-D computer-aided imaging procedure and metric analysis. Ten selected orthodontic measurements were calculated based on imaging landmarks. The computed data derived from models in both (EGP and non-EGP) groups were compared. The differences between groups were statistically analysed using Student's test. Five orthodontic measurements: the angle of the lesser segment inclination, dental arch radius of this segment, anterior palatal depth, palatal surface and length of dental arch demonstrate more severe maxillary underdevelopment in patients with previous EGP. The results reaffirm the negative impact of EGP with wide undermining of periosteal flaps on maxillary development and suggest that these five parameters may be the most sensitive early indicators of growth alteration.

  2. Linkage study of nonsyndromic cleft lip with or without cleft palate using candidate genes and mapped polymorphic markers

    SciTech Connect

    Stein, J.D.; Nelson, L.D.; Conner, B.J.

    1994-09-01

    Nonsyndromic cleft lip with or without cleft palate (CL(P)) involves fusion or growth failure of facial primordia during development. Complex segregation analysis of clefting populations suggest that an autosomal dominant gene may play a role in this common craniofacial disorder. We have ascertained 16 multigenerational families with CL(P) and tested linkage to 29 candidate genes and 139 mapped short tandem repeat markers. The candidate genes were selected based on their expression in craniofacial development or were identified through murine models. These include: TGF{alpha}, TGF{beta}1, TGF{beta}2, TGF{beta}3, EGF, EGFR, GRAS, cMyc, FGFR, Jun, JunB, PDFG{alpha}, PDGF{beta}, IGF2R, GCR Hox7, Hox8, Hox2B, twirler, 5 collagen and 3 extracellular matrix genes. Linkage was tested assuming an autosomal dominant model with sex-specific decreased penetrance. Linkage to all of the candidate loci was excluded in 11 families. RARA was tested and was not informative. However, haplotype analysis of markers flanking RARA on 17q allowed exclusion of this candidate locus. We have previously excluded linkage to 61 STR markers in 11 families. Seventy-eight mapped short tandem repeat markers have recently been tested in 16 families and 30 have been excluded. The remaining are being analyzed and an exclusion map is being developed based on the entire study results.

  3. Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.

    PubMed

    Brito, Luciano Abreu; Yamamoto, Guilherme Lopes; Melo, Soraia; Malcher, Carolina; Ferreira, Simone Gomes; Figueiredo, Joana; Alvizi, Lucas; Kobayashi, Gerson Shigeru; Naslavsky, Michel Satya; Alonso, Nivaldo; Felix, Temis Maria; Zatz, Mayana; Seruca, Raquel; Passos-Bueno, Maria Rita

    2015-11-01

    Nonsyndromic orofacial cleft (NSOFC) is a complex disease of still unclear genetic etiology. To investigate the contribution of rare epithelial cadherin (CDH1) gene variants to NSOFC, we target sequenced 221 probands. Candidate variants were evaluated via in vitro, in silico, or segregation analyses. Three probably pathogenic variants (c.760G>A [p.Asp254Asn], c.1023T>G [p.Tyr341*], and c.2351G>A [p.Arg784His]) segregated according to autosomal dominant inheritance in four nonsyndromic cleft lip with or without cleft palate (NSCL/P) families (Lod score: 5.8 at θ = 0; 47% penetrance). A fourth possibly pathogenic variant (c.387+5G>A) was also found, but further functional analyses are needed (overall prevalence of CDH1 candidate variants: 2%; 15.4% among familial cases). CDH1 mutational burden was higher among probands from familial cases when compared to that of controls (P = 0.002). We concluded that CDH1 contributes to NSCL/P with mainly rare, moderately penetrant variants, and CDH1 haploinsufficiency is the likely etiological mechanism.

  4. Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate.

    PubMed

    Scapoli, Luca; Martinelli, Marcella; Pezzetti, Furio; Palmieri, Annalisa; Girardi, Ambra; Savoia, Anna; Bianco, Anna Monica; Carinci, Francesco

    2010-07-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) affects approximately 1 in 1,000 births. Genetic studies have provided evidence for the role of several genes and candidate loci in clefting; however, conflicting results have frequently been obtained and much have to be done to unravel the complex genetics of CL/P. In the present investigation we have focused on the candidate region in 6p23, a region that have been found linked to CL/P in several investigations, in the attempt to find out the susceptibility gene provisionally named OFC1. Gene expression experiments in mice embryo of positional candidate genes revealed that JARID2 was highly and specifically expressed in epithelial cells in merging palatal shelves. A family-based linkage disequilibrium study confirmed the pivotal role of JARID2 in orofacial development and strongly supports a role for this gene in CL/P etiology (multiallelic haplotype test P=6 x 10(-5)). Understanding the molecular role of JARID2 within facial development may offer additional information to further unravel the complex genetics of CL/P.

  5. Pre-speech in children with cleft lip and palate or cleft palate only: phonetic analysis related to morphologic and functional factors.

    PubMed

    Lohmander-Agerskov, A; Söderpalm, E; Friede, H; Persson, E C; Lilja, J

    1994-07-01

    Pre-speech in 35 children with clefts of the lip and palate or palate only were analyzed for place and manner of articulation. Transcriptions were made from tape recorded babbling sequences. Two children without clefts were used as reference. All of the children with clefts were treated according to a regimen of early surgical repair of the velum cleft and delayed closure of the cleft in the hard palate. The frequency of selected phonetic features was calculated. Correlations between phonetic/perceptual and functional and morphological factors were tested. Supraglottal articulation dominated among all the children indicating a sufficient velopharyngeal mechanism. The results also showed correlations between cleft type and place of articulation. Anteriorly placed sounds (i.e., bilabial, dental, and alveolar sounds) occurred frequently among the children with cleft palate only and in the noncleft children. In children with cleft lip and palate, posteriorly placed articulations predominated. It was postulated that early intervention may have a positive effect on articulatory development.

  6. The Management of Iatrogenic Obstructive Sleep Apnoea Syndrome Following Bimaxillary Surgery in a Patient with Cleft Lip and Palate.

    PubMed

    Gerbino, Giovanni; Gervasio, Fernando Carmine; Blythe, John; Bianchi, Francesca Antonella

    2016-07-01

    A 26-year-old man presented with a 6-year history of severe obstructive sleep apnoea syndrome followed a bimaxillary osteotomy procedure for a class III skeletal pattern. The patient was born with a unilateral cleft lip and palate and underwent primary lip and palate repair and later a pharyngeal flap for severe velopharyngeal insufficiency. Surgical management of obstructive sleep apnoea syndrome with conventional osteotomy, in cleft lip and palate patients, is a difficult problem. Distraction osteogenesis may provide a safer alternative. The authors describe and discuss the indications and the technical challenge of a multistage treatment protocol with distraction osteogenesis. PMID:27391499

  7. Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridization

    PubMed Central

    Osoegawa, Kazutoyo; Vessere, Gery M.; Utami, Kagistia Hana; Mansilla, Maria Adela; Johnson, Marla K.; Riley, Bridget M.; L’Heureux, Jamie; Pfundt, Rolph; Staaf, Johan; van der Vliet, Walter A.; Lidral, Andrew C.; Schoenmakers, Eric F. P. M.; Borg, Ake; Schutte, Brian C.; Lammer, Edward J.; Murray, Jeffrey C.; de Jong, Pieter J.

    2013-01-01

    Introduction and methods We analyzed 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 hybridization (array-CGH). Results Of 83 syndromic cases analyzed we identified one subject with a previously unknown 2.7 Mb deletion at 22q11.21 coinciding with the DiGeorge syndrome region. Eighteen of the syndromic cases had clinical features of Van der Woude syndrome and deletions were identified in 5 of these, all of which encompassed the interferon regulatory factor 6 (IRF6) gene. In a series of 104 nonsyndromic cases we found one subject with a 3.2 Mb deletion at chromosome 6q25.1-25.2 and another with a 2.2 Mb deletion at 10q26.11-26.13. Analyses of parental DNA demonstrated that the two deletion cases at 22q11.21 and 6q25.1-25.2 were de novo, while the deletion of 10q26.11-26.13 was inherited from the mother, who also has 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. Discussion 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 candidate chromosomal loci and genes, complementing traditional genetic mapping strategies. PMID:17873121

  8. Prospective Analysis of Secondary Alveolar Bone Grafting in Cleft Lip and Palate Patients

    PubMed Central

    Reddy, M Gokul Chandra; Babu, V Ramesh; Rao, V Eswar; Chaitanya, J Jaya; Allareddy, S; Reddy, C Charan Kumar

    2015-01-01

    Background: To assess the success of the uptake of bone graft in cleft alveolus of the cleft lip and palate patients, quantitatively through computed tomography (CT) scan 6 months postoperative. To assess the successful eruption of permanent lateral incisor or canine in the bone grafted area. Materials and Methods: The children age group of 9-21 years with unilateral cleft lip and palate came to the hospital, needing secondary alveolar bone grafting. A detailed history and clinical examination of the patient was taken. A 3D CT scan was taken and the volume of the cleft was measured pre-operatively. After ambulatory period, 3D CT scan of the alveolar cleft region was taken and volume of the bone grafted was measured and patient was discharged from the hospital. After 6 months, patient was recalled and again 3D CT scan was taken and the volume of remaining bone was measured. Results: The mean volume of the defect pre-operatively is 0.80 cm3 with a standard deviation of 0.36 cm3 with minimum volume of the defect 0.44 cm3 and maximum volume of the defect 1.60 cm3. The mean volume of the bone post-operative immediately after grafting is 1.01 cm3 with a standard deviation of 0.52 cm3 with minimum of bone volume is 0.48 cm3 and maximum of 2.06 cm3. The mean volume of the bone after 6 months after bone grafting is 0.54 cm3 with a standard deviation of 0.33 cm3, minimum bone volume of 0.22 cm3 and maximum bone volume of 1.42 cm3. Conclusion: The CT scan is a valuable radiographic imaging modality to assess and follow the clinical outcome of secondary alveolar bone grafting. PMID:25954076

  9. Three-dimensional facial analysis of Chinese children with repaired unilateral cleft lip and palate.

    PubMed

    Othman, Siti Adibah; Aidil Koay, Noor Airin

    2016-01-01

    We analyzed the facial features of Chinese children with repaired unilateral cleft lip and palate (UCLP) and compared them with a normal control group using a three-dimensional (3D) stereophotogrammetry camera. This cross-sectional study examined 3D measurements of the facial surfaces of 20 Chinese children with repaired UCLP and 40 unaffected Chinese children aged 7 to 12 years old, which were captured using the VECTRA 3D five-pod photosystem and analyzed using Mirror software. Twenty-five variables and two ratios were compared between both groups using independent t-test. Intra- and inter-observer reliability was determined using ten randomly selected images and analyzed using intra-class correlation coefficient test (ICC). The level of significance was set at p < 0.0018. Intra- and inter-observers' reliability was considered fair to excellent with an ICC value ranging from 0.54 to 0.99. Statistically significant differences (p < 0.0018) were found mainly in the nasolabial region. The cleft group exhibited wider alar base root width, flattened nose and broader nostril floor width on the cleft side. They tended to have shorter upper lip length and thinner upper vermillion thickness. Faces of Chinese children with repaired UCLP displayed meaningful differences when compared to the normal group especially in the nasolabial regions. PMID:27507713

  10. Craniofacial variability and morphological integration in mice susceptible to cleft lip and palate

    PubMed Central

    Hallgrímsson, Benedikt; Dorval, Curtis J; Zelditch, Miriam Leah; German, Rebecca Z

    2004-01-01

    A/WySnJ mice are an inbred strain that develops cleft lip with or without cleft palate (CL/P) with a frequency of 25–30% and a predominantly unilateral expression pattern. As in humans, the pattern of incomplete penetrance, and variable and frequent unilateral expression suggests a role for altered regulation of variability (developmental stability, canalization and developmental integration) during growth. We compared both mean and variability parameters for craniofacial shape and size among A/WySnJ mice, a strain that does not develop CL/P (C57BL/6J) and their F1 cross. We show that adult A/WySnJ mice that do not express cleft lip exhibit decreased morphological integration of the cranium and that the co-ordination of overall shape and size variation is disrupted compared with both C57BL/6J mice and the F1 cross. The decrease in integration is most pronounced in the palate and face. The absence of this pattern in the F1 cross suggests that it is determined by recessive genetic factors. By contrast, the shape differences between the strains, which are thought to predispose A/WySnJ mice to CL/P, show a range of dominance which suggests a polygenic basis. We suggest that decreased integration of craniofacial growth may be an aetiological factor for CL/P in A/WySnJ mice. PMID:15610397

  11. Three-dimensional facial analysis of Chinese children with repaired unilateral cleft lip and palate

    PubMed Central

    Othman, Siti Adibah; Aidil Koay, Noor Airin

    2016-01-01

    We analyzed the facial features of Chinese children with repaired unilateral cleft lip and palate (UCLP) and compared them with a normal control group using a three-dimensional (3D) stereophotogrammetry camera. This cross-sectional study examined 3D measurements of the facial surfaces of 20 Chinese children with repaired UCLP and 40 unaffected Chinese children aged 7 to 12 years old, which were captured using the VECTRA 3D five-pod photosystem and analyzed using Mirror software. Twenty-five variables and two ratios were compared between both groups using independent t-test. Intra- and inter-observer reliability was determined using ten randomly selected images and analyzed using intra-class correlation coefficient test (ICC). The level of significance was set at p < 0.0018. Intra- and inter-observers’ reliability was considered fair to excellent with an ICC value ranging from 0.54 to 0.99. Statistically significant differences (p < 0.0018) were found mainly in the nasolabial region. The cleft group exhibited wider alar base root width, flattened nose and broader nostril floor width on the cleft side. They tended to have shorter upper lip length and thinner upper vermillion thickness. Faces of Chinese children with repaired UCLP displayed meaningful differences when compared to the normal group especially in the nasolabial regions. PMID:27507713

  12. Distraction osteogenesis and orthognathic surgery for a patient with unilateral cleft lip and palate.

    PubMed

    Kim, Ji Hyun; Lee, Il Hong; Lee, Sang Min; Yang, Byoung Eun; Park, In Young

    2015-03-01

    Maxillary deficiency is a common feature in patients with repaired cleft lip and palate. Orthognathic surgery has been the conventional approach for the management of cleft-related maxillary hypoplasia. However, for patients with a severe maxillary deficiency, orthognathic surgery alone has many disadvantages, such as high relapse rates of 25% to 40%, instability, limited amount of advancement, and a highly invasive surgical technique. As an alternative treatment method, distraction osteogenesis has been used successfully in the distraction of the mandible, the maxilla, the entire midface, and the orbits as well as the cranial bones, with stable outcomes. The type of distraction device, either external or internal, can be chosen based on the surgical goals set for the patient. In this study, we report on the use of a rigid external distraction device for maxillary advancement in a 22-year-old woman with a repaired unilateral cleft lip and palate and severe maxillary hypoplasia. After the distraction osteogenesis, 2-jaw surgery was performed to correct the maxillary yaw deviation and the mandibular prognathism.

  13. The effects of face mask therapy in cleft lip and palate patients

    PubMed Central

    Dogan, Servet

    2012-01-01

    Background and Aim: Children treated with cleft lip and palate often develops mid-facial retrusion. In this study 20 patients with unilateral cleft lip and palate (UCLP) were treated with face mask and studied for the effect of growth. Materials and Methods: The patients were treated by the same orthodontist using the same techniques and appliances. Mean pre- and posttreatment ages were 8.7 and 9.5 years, respectively. Each child was matched by ethnicity, age, sex, and the SN/MP angle to an untreated (noncleft) control. The treatment period with face mask was approximately 7 months and 5 days. Result: The study showed definite protraction of the maxilla for UCLP group (P < 0.001). The posterior maxilla of the UCLP group underwent anterior displacement while the maxillary incisors showed greater anterior movement than expected for untreated control group (P < 0.01). Vertical changes of the maxilla showed no significant differences in cleft group. The mandible of the UCLP group was rotated inferiorly and posteriorly (P < 0.05) while control group showed inferior and anterior changes. The lower incisors were stable in the two groups. Conclusion: From this study, it can be inferred that the UCLP group show significantly anterior maxillary movements when compared with the control group when face mask is used as per prescription. PMID:23483763

  14. Developing a visual rating chart for the esthetic outcome of unilateral cleft lip and palate repair

    PubMed Central

    Adeola, A. Olusanya; Oladimeji, A. Akadiri

    2015-01-01

    Introduction: Aesthetic impairment is a major concern for the cleft lip/palate patient. Thus, auditing of postsurgical esthetic outcome needs to be further explored as till date no universally accepted protocol exists. The study objective was to propose a new visual rating chart (VRC) for the aesthetic outcome of cleft lip and palate (CLP) surgery. Materials and Methods: In a retrospective review of 200 repaired clefts, the common esthetic deficiencies were identified, categorized and ranked in the order of severity. A chart of the illustrative diagram with textual description of the defects was produced and used as a basis for rating outcome by two groups of raters (familiar raters and recruited raters). Intra- and inter-raters reliability was estimated using Cohen's kappa statistics and intra-class correlation coefficient (ICC). Comparison between mean group coefficient was achieved with Kendall's correlation coefficient of concordance. Results: The intra- and inter-rater reliability for familiar raters was found to be strong with kappa values range of 0.80–0.87 (P < 0.001). Similarly, inter-raters’ reliability by recruited judges was very strong using ICC at both single (0.768) and average measures (0.982). Conclusion: The VRC is a reliable tool for assessing the esthetic outcome of CLP repairs. PMID:26389035

  15. The prevalence of specific dental anomalies in a group of Saudi cleft lip and palate patients

    PubMed Central

    Al-Kharboush, Ghada H.; Al-Balkhi, Khalid M.; Al-Moammar, Khalid

    2015-01-01

    Objective The aims of this study were to investigate the prevalence and distribution of dental anomalies in a group of Saudi subjects with cleft lip and palate (CLP), to examine potential sex-based associations of these anomalies, and to compare dental anomalies in Saudi subjects with CLP with published data from other population groups. Design This retrospective study involved the examination of pre-treatment records obtained from three CLP centers in Riyadh, Saudi Arabia, in February and March 2010. The pre-treatment records of 184 subjects with cleft lip and palate were identified and included in this study. Pre-treatment maxillary occlusal radiographs of the cleft region, panoramic radiographs, and orthodontic study models of subjects with CLP were analyzed for dental anomalies. Results Orthopantomographs and occlusal radiographs may not be reliable for the accurate evaluation of root malformation anomalies. A total of 265 dental anomalies were observed in the 184 study subjects. Hypodontia was observed most commonly (66.8%), followed by microdontia (45.6%), intra-oral ectopic eruption (12.5%), supernumerary teeth (12.5%), intra-nasal ectopic eruption (3.2), and macrodontia (3.2%). No gender difference in the prevalence of these anomalies was observed. Conclusions Dental anomalies were common in Saudi subjects with CLP type. This will complicate the health care required for the CL/P subjects. This study was conducted to epidemiologically explore the prevalence of dental anomalies among Saudi Arabian subjects with CLP. PMID:26082573

  16. Modified technique of presurgical infant maxillary orthopedics for complete unilateral cleft lip and palate.

    PubMed

    Choo, Hyeran; Maguire, Meg; Low, David W

    2012-01-01

    This article introduces a modified device fabrication and facial taping method that increases the efficiency and efficacy of presurgical infant maxillary orthopedic therapy for babies born with complete cleft lip and palate. Interarch and intra-arch relationships of the maxillary and mandibular dental arches were evaluated on mounted stone models before and after treatment. The palatal plate device was custom-fabricated in a manner that bypassed the need for periodic acrylic addition and removal, thereby eliminating the risk of natural maxillary growth restriction during therapy. Elastic labial tapes were fabricated and applied in a configuration that mimicked normal function of the orbicularis oris muscle. A nasal stent wire was utilized from the initiation of therapy to enhance intraoral retention and stability of the device. Examples of infants undergoing a unilateral complete cleft lip and palate treatment protocol are presented. Treatment objectives were achieved within 7 to 8 weeks of therapy for patients who had an initial alveolar cleft size more than 10 to 12 mm. The modified protocol of presurgical infant maxillary orthopedic therapy is an effective and efficient treatment modality in reversing the pre-existing orofacial dysmorphism by redirecting the infant's natural growth.

  17. Esthetic Composition of Smile in Individuals with Cleft Lip, Alveolus, and Palate: Visibility of the Periodontium and the Esthetics of Smile

    PubMed Central

    Esper, Luis Augusto; Sbrana, Michyele Cristhiane; Cunha, Mércia Jussara da Silva; Moreira, Guilherme Santos; de Almeida, Ana Lúcia Pompéia Fraga

    2012-01-01

    Objective. To evaluate characteristics of smile related to visibility in individuals with cleft lip, alveolus, and palate. Design. Cross-sectional. Setting. HRAC/USP, Brazil. Patients. Individuals with repaired complete unilateral cleft lip and palate (n = 45), aged 15–30 years. Interventions. Frontal facial photographs were obtained in natural and forced smiles (n = 135). Six specialists in periodontics evaluated the photographs as to the smile line, thickness, and curve of the upper lip. Main Outcome Measures. The cleft area was compared with the contralateral region. Results were expressed as percentages and means. The findings were compared between groups of periodontists. Results. Statistically significant relationship was observed in the smile line between examiners and between natural and forced smiles, regardless of the association with the cleft side. The lip was thicker at rest and thinner in the forced smile, as also evaluated by the group not experienced with cleft care. The curve of the upper lip in natural and forced smiles was considered as close to straight by both groups, regardless of the cleft. Conclusion. The smile in individuals with clefts was regarded as average for both cleft and noncleft sides. The thickness was characterized as average to thin, being thinner in forced smile and when analyzed by the group not experienced with cleft care. In the average, the curve of the upper lip was considered as straight. The present study elucidates some characteristics related to the smile in individuals with repaired unilateral cleft lip, alveolus, and palate. PMID:23227326

  18. Upper triangular flap method for primary repairs of incomplete unilateral cleft lip patients: minor to two-thirds way defects.

    PubMed

    Koh, Kyung S; Oh, Tae Suk; Song, Jin Woo

    2015-03-01

    Incomplete unilateral cleft lips show a wide range of deformities, ranging from microform to near-complete clefts. Because there are different amounts and qualities of tissue present on the cleft and non-cleft sides, surgical approaches should make distinctions based on the remnant tissue. A new procedure using an upper triangular flap that combines characteristics of both rotation advancement and straight line repair was applied and the surgical results were reviewed. Between June 2007 and April 2011, 28 patients with minor to two-thirds way unilateral cleft lips [minor (n = 12), one-third (n = 2), halfway (n = 11), and two-thirds way (n = 3)] were subjected to the upper triangular flap method. The patients ranged in age from 62 days to 6 years (mean, 9 months). The average follow-up period was 25 months (range, 12-60 months). The repairs were successful in all 28 patients without complications. The scar was acceptable because it ran along the vertical philtral columns. During the follow-up period, long lip deformities and Cupid bow drooping were not observed in any of the patients. However, misalignment of the white skin roll was observed due to insufficient rotation at the cleft side in 1 patient. The repairs of minor to two-thirds way unilateral cleft lips using the upper triangular flap method allowed for a symmetric Cupid bow and philtrum. Moreover, this method allowed for satisfactory nostril sill reconstruction with acceptable scarring. The upper triangular flap method is recommended as an alternative to conventional methods for repair of minor to two-thirds way incomplete unilateral cleft lips.

  19. Cleft lip and palate and related factors: A 10 years study in university hospitalised patients at Mashhad — Iran

    PubMed Central

    Noorollahian, Morteza; Nematy, Mohsen; Dolatian, Atiyeh; Ghesmati, Hengameh; Akhlaghi, Saeed; Khademi, Gholam Reza

    2015-01-01

    Background: Oral-facial clefts including cleft lip and palate are the most common congenital malformations of the head and neck. Environmental factors such as maternal hormonal disorders, use of psychiatric medications, vitamin and folic acid deficiency, hypoxia, cigarette smoking and maternal obesity and overweight can affect the incidence of these disorders. In Iran, one of the associated problems is a lack of accurate statistics regarding the present status of the patients, which can cause a disturbance in the health programmes of Ministry of Health and Medical Education. The aim of this study was to report the status of 398 cases of cleft lip and palate in Sheikh and Imam Reza Hospitals of Mashhad over a 10-year period. Materials and Methods: This retrospective descriptive study was performed using data collection method and included the evaluation of the recorded files and completing the data forms. In this study, the file records of 398 patients referring to Mashhad Sheikh and Imam Reza (P.U.H) Hospitals were studied, from the beginning of 2002 to the end of 2011; the obtained data from the files were collected and classified. Results: The highest frequency was related to cleft palate alone (40.7%); frequencies were lower regarding the cleft lip and palate and cleft lip alone (34.41% and 24.87%, respectively). Approximately, half of the patients were from rural areas of the city and had articulation disorders. Most of the patients were the first-born children of the family and their parents were consanguineously married; about one-third of the patients had a family history of the disease. Conclusion: According to the results of the present study, cleft lip is more frequent in males and cleft palate is more prevalent in females; the obtained results are consistent with the global statistics. PMID:26712297

  20. Facial dimensions of Malay children with repaired unilateral cleft lip and palate: a three dimensional analysis.

    PubMed

    Zreaqat, M; Hassan, R; Halim, A S

    2012-06-01

    This comparative cross-sectional study assessed the facial surface dimensions of a group of Malay children with unilateral cleft lip and palate (UCLP) and compared them with a control group. 30 Malay children with UCLP aged 8-10 years and 30 unaffected age-matched children were voluntarily recruited from the Orthodontic Specialist Clinic in Hospital Universiti Sains Malaysia (HUSM). For the cleft group, lip and palate were repaired and assessment was performed prior to alveolar bone grafting and orthodontic treatment. The investigation was carried out using 3D digital stereophotogrammetry. 23 variables and two ratios were compared three-dimensionally between both groups. Statistically significant dimensional differences (P<0.05) were found between the UCLP Malay group and the control group mainly in the nasolabial region. These include increased alar base and alar base root width, shorter upper lip length, and increased nose base/mouth width ratio in the UCLP group. There were significant differences between the facial surface morphology of UCLP Malay children and control subjects. Particular surgical procedures performed during primary surgeries may contribute to these differences and negatively affect the surgical outcome. PMID:22424709

  1. Assessing the Effectiveness of Massage Therapy for Bilateral Cleft Lip Reconstruction Scars

    PubMed Central

    McKay, Emilie

    2014-01-01

    Background and Objective Bilateral cleft lips occur when the bones that form the upper lip fail to fuse at birth. Surgical reconstruction creates scars, which may lead to the following impairments: adhesions, decreased oral range of motion, decreased strength of orbicularis oris muscle, and asymmetry of oral region leading to poor self-esteem. The purpose of this case study is to determine the effectiveness of massage therapy in its ability to improve these impairments. Methods A five-week treatment plan consisting of fascial release, kneading, and intraoral techniques. Subjective information was assessed on two scales: restriction of scar and clients attitudes and acceptance of scar. Objective information was cataloged through photographs, a palpatory chart, and a self-created “Pen Test”. Results Results included increase range of motion and strength, decrease restrictions (palpable and subjective), and increase of symmetry. Client’s perceived confidence of scar and its appearance increased. Conclusions The evidence suggests that massage therapy helped with the impairments associated with scars formed by bilateral cleft lip reconstruction. PMID:24920967

  2. Facial dimensions of Malay children with repaired unilateral cleft lip and palate: a three dimensional analysis.

    PubMed

    Zreaqat, M; Hassan, R; Halim, A S

    2012-06-01

    This comparative cross-sectional study assessed the facial surface dimensions of a group of Malay children with unilateral cleft lip and palate (UCLP) and compared them with a control group. 30 Malay children with UCLP aged 8-10 years and 30 unaffected age-matched children were voluntarily recruited from the Orthodontic Specialist Clinic in Hospital Universiti Sains Malaysia (HUSM). For the cleft group, lip and palate were repaired and assessment was performed prior to alveolar bone grafting and orthodontic treatment. The investigation was carried out using 3D digital stereophotogrammetry. 23 variables and two ratios were compared three-dimensionally between both groups. Statistically significant dimensional differences (P<0.05) were found between the UCLP Malay group and the control group mainly in the nasolabial region. These include increased alar base and alar base root width, shorter upper lip length, and increased nose base/mouth width ratio in the UCLP group. There were significant differences between the facial surface morphology of UCLP Malay children and control subjects. Particular surgical procedures performed during primary surgeries may contribute to these differences and negatively affect the surgical outcome.

  3. Nonsyndromic cleft lip with or without cleft palate: Evidence of linkage to BCL3 in 17 multigenerational families

    SciTech Connect

    Stein, J.; Hecht, T.; Stal, S.

    1995-08-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial developmental defect. Recent segregation analyses have suggested that major genes play a role in the etiology of CL/P. Linkage to 22 candidate genes was tested in 11 multigenerational families with CL/P, and 21 of these candidates were excluded. APOC2, 19q13.1, which is linked to the proto-oncogene BCL3, gave suggestive evidence for linkage to CL/P. The study was expanded to include a total of 39 multigenerational CL/P families. Linkage was tested in all families, using anonymous marker, D19S178, and intragenic markers in BCL3 and APOC2. Linkage was tested under two models, autosomal dominant with reduced penetrance and affecteds-only model. Both models showed evidence of heterogeneity, with 43% of families linked at zero recombination to BCL3 when marker data from BCL3 and APOC2 were included. A maximum multipoint LOD score of 7.00 at BCL3 was found among the 17 families that had posterior probabilities {ge}50% in favor of linkage. The transmission disequilibrium test provided additional evidence for linkage with the 3 allele of BCL3 more often transmitted to affected children. These results suggest that BCL3, or a nearby gene, plays a role in the etiology of CL/P in some families. 39 refs., 8 figs., 4 tabs.

  4. Nonsyndromic cleft lip and palate: Evidence of linkage to a microsatellite marker on 6p23

    SciTech Connect

    Carinci, F.; Pezzetti, F.; Scapoli, L.; Padula, E.; Baciliero, U.; Curioni, C.; Tognon, M.

    1995-01-01

    Nonsydromic cleft lip with or without secondary clefting of the palate (CL+/{minus}P) is one of the most common birth defects. A previous linkage study concerning CL+/{minus}P and cleft palate (CP) families indicated chromosome 6p, near F13A locus, as a possible region for the presence of a clefting gene. More recently, another linkage study performed on a sample of 12 families with nonsyndromic CL+/{minus}P seemed to exclude this association. To test the hypothesis on the possible presence of a major gene on chromosome 6p, we carried out a study on a large sample (21) of CL+/{minus}P families from northeastern Italy. In conclusion, our investigation can be summarized as follows: (i) CL+/{minus}P disease appears to be heterogeneous; (ii) {approximately}66% of the pedigrees showed an autosomal dominant inheritance with incomplete penetrance; and (iii) CL+/{minus}P locus maps on 6p23 very close to or at the microsatellite marker D6S89. To verify whether the D6S89 is the closest marker to the CL+/{minus}P locus, additional examinations with new markers are underway. 19 refs., 1 fig., 1 tab.

  5. The changes produced by presurgical orthopedic treatment of bilateral cleft lip and palate.

    PubMed

    Robertson, N; Shaw, W; Volp, C

    1977-01-01

    A serial cephalometric analysis (with the aid of metallic implants) and an analysis of the models of 10 children with complete bilateral clefts, who received presurgical orthopedic treatment, was done. It revealed that such therapy can successfully reduce the protrusive deformity of the premaxilla, when forward growth of this structure is restrained so as to allow the remainder of the face to "catch up." Our other observations include the accentuation of the columella during treatment, but an absence of growth at the cleft margins. Orthopedic treatment which fails to achieve the desired aims in 12 weeks of active therapy should be discontinued then in favor of such surgical setback as may be necessary to allow a satisfactory lip repair.

  6. Theoretical recurrence risks for cleft lip derived from a population of consecutive newborns.

    PubMed Central

    Tenconi, R; Clementi, M; Turolla, L

    1988-01-01

    Theoretical recurrence risks for cleft lip with or without cleft palate (CL(P)) were calculated from heritability estimates derived from a population of 203 newborns with CL(P) in a total of 220,927 consecutive births in north-east Italy. Birth prevalence of CL(P) and the frequency of CL(P) in relatives of probands were estimated after exclusion of cases with CL(P) resulting from a known cause or pathogenesis. The method allowed estimation of the theoretical recurrence risk for any family by considering the total number of affected and unaffected first, second, and third degree relatives. The lower value of the theoretical risk compared to the empirical risk, obtained from retrospective data of selected families, was the result of methodological differences. PMID:3367349

  7. Controversies in the Management of Patients with Cleft Lip and Palate.

    PubMed

    Rodman, Regina E; Tatum, Sherard

    2016-08-01

    Cleft lip and palate is one of the most common congenital anomalies. For many years, surgeons have been attempting to reduce the severity of the deformity before the surgical repair to achieve a better outcome. The nasoalveolar molding technique uses acrylic nasal stents attached to the vestibular shield of an oral molding plate to mold the nasal alar cartilages into a more normal form and position during the presurgical period. Proponents of nasoalveolar molding claim several benefits, including improved aesthetic outcome, reduced overall costs, and a psychosocial benefit to the family. Research on these outcomes is not conclusive. PMID:27400840

  8. A modified presurgical orthopedic (nasoalveolar molding) device in the treatment of unilateral cleft lip and palate

    PubMed Central

    Subramanian, Chitravelu Siva; Prasad, N. K. K. Koteswara; Chitharanjan, Arun B.; Liou, Eric Jein Wein

    2016-01-01

    Nasoalveolar molding (NAM) can be done effectively to reshape the nasal cartilage and mold the maxillary dentoalveolar arch before surgical cleft lip repair and primary rhinoplasty. Presurgical NAM helps as an adjunct procedure to enhance the esthetic and functional outcome of the surgical procedures. We have developed a modified NAM device to suit to the needs of the patients coming from distant places for the treatment. This device helps in reducing the number of frequent visits the patient needs to take to the craniofacial center. The purpose of this presentation is to report this treatment technique and discuss its application. PMID:27403068

  9. A modified presurgical orthopedic (nasoalveolar molding) device in the treatment of unilateral cleft lip and palate.

    PubMed

    Subramanian, Chitravelu Siva; Prasad, N K K Koteswara; Chitharanjan, Arun B; Liou, Eric Jein Wein

    2016-01-01

    Nasoalveolar molding (NAM) can be done effectively to reshape the nasal cartilage and mold the maxillary dentoalveolar arch before surgical cleft lip repair and primary rhinoplasty. Presurgical NAM helps as an adjunct procedure to enhance the esthetic and functional outcome of the surgical procedures. We have developed a modified NAM device to suit to the needs of the patients coming from distant places for the treatment. This device helps in reducing the number of frequent visits the patient needs to take to the craniofacial center. The purpose of this presentation is to report this treatment technique and discuss its application. PMID:27403068

  10. Removable Partial Denture in a Cleft Lip and Palate Patient: A Case Report

    PubMed Central

    Özdemir, Eylem

    2008-01-01

    This clinical report described the oral rehabilitation of a cleft lip and palate patient with removable partial denture. Although implant-supported fixed treatment was presented as part of the optimum treatment plan to achieve the best result, the patient declined this option due to the significant financial burden. Persons with a congenital or craniofacial defect are unique, and oral problems must be evaluated individually to the most ideal treatment. The changes in appearance, function, and psychological wellbeing have an enormous impact on patients' personal lives and are rewarding for the maxillofacial prosthodontist providing this care. PMID:18955808

  11. Finite element method analysis of craniofacial morphology in unilateral cleft lip and palate prior to palatoplasty.

    PubMed

    Hammond, A B; Smahel, Z; Moss, M L

    1993-01-01

    The craniofacial morphology in unilateral cleft lip and palate (UCLP) prior to palatoplasty was analyzed with the finite element method (FEM). The study examined cross-sectional data sets of affected and control males aged 4.5 to 6.0 years from Czechoslovakia. The facial skeleton and cranial base were discretized into 26 two-dimensional, triangular finite elements. Cranial base morphology is altered in UCLP. The extensive nature of most craniofacial deformities means that almost any registration is likely to be distorted. The fundamental advantage of the FEM is that biological descriptions are not dependent upon the selected reference plane. The FEM localizes changes in form to discrete anatomical regions. Significant shape and size differences characterize UCLP prior to palatoplasty. Dramatic deformations associated with cheiloplasty are localized to the lips and maxillary alveolar process. Nasal deformation reflects loss of structural support for the nose.

  12. Cone-Beam Computed Tomography Assessment of Lower Facial Asymmetry in Unilateral Cleft Lip and Palate and Non-Cleft Patients with Class III Skeletal Relationship

    PubMed Central

    Lin, Yifan; Chen, Gui; Fu, Zhen; Ma, Lian; Li, Weiran

    2015-01-01

    Introduction To evaluate, using cone-beam computed tomography (CBCT), both the condylar-fossa relationships and the mandibular and condylar asymmetries between unilateral cleft lip and palate (UCLP) patients and non-cleft patients with class III skeletal relationship, and to investigate the factors of asymmetry contributing to chin deviation. Methods The UCLP and non-cleft groups consisted of 30 and 40 subjects, respectively, in mixed dentition with class III skeletal relationships. Condylar-fossa relationships and the dimensional and positional asymmetries of the condyles and mandibles were examined using CBCT. Intra-group differences were compared between two sides in both groups using a paired t-test. Furthermore, correlations between each measurement and chin deviation were assessed. Results It was observed that 90% of UCLP and 67.5% of non-cleft subjects had both condyles centered, and no significant asymmetry was found. The axial angle and the condylar center distances to the midsagittal plane were significantly greater on the cleft side than on the non-cleft side (P=0.001 and P=0.028, respectively) and were positively correlated with chin deviation in the UCLP group. Except for a larger gonial angle on the cleft side, the two groups presented with consistent asymmetries showing shorter mandibular bodies and total mandibular lengths on the cleft (deviated) side. The average chin deviation was 1.63 mm to the cleft side, and the average absolute chin deviation was significantly greater in the UCLP group than in the non-cleft group (P=0.037). Conclusion Compared with non-cleft subjects with similar class III skeletal relationships, the subjects with UCLP showed more severe lower facial asymmetry. The subjects with UCLP presented with more asymmetrical positions and rotations of the condyles on axial slices, which were positively correlated with chin deviation. PMID:26237311

  13. Curvilinear transformation of z-shaped upper lip scar by diamond-shaped excision in secondary cleft lip deformities: a photogrammetric evaluation.

    PubMed

    Han, Kihwan; Jeong, Hoijoon; Choi, Tae Hyun; Kim, Jun Hyung; Son, Daegu

    2015-03-01

    Purpose : The visible Z-shaped upper lip scar that occurs after the Tennison and Randall triangular flap technique remains a cleft stigma. Herein, we present our curvilinear transformation technique for the Z-shaped upper lip scar by diamond-shaped excision and evaluate the results using photogrammetric analyses. Patients and Methods : From 1997 to 2006, 23 patients with secondary cleft lip deformity with the visible Z-shaped upper lip scar underwent correction with the technique. The scar was excised in the diamond shape above the muscle. After curvilinear closure, the elongated length of the upper lip was excised just below the nostril sill, as the measured Cupid's bow height discrepancy. The result was assessed by the authors' standardized photogrammetry technique. Results : There was a statistically significant decrease between the preoperative central limb of the Z-shaped scar and the width of the postoperative curvilinear upper lip scar. The pre- and postoperative Cupid's bow height differences were not statistically significant. Conclusions : The curvilinear transformation of the Z-shaped scar is an efficient procedure that provides (1) a significant decrease in the width of an upper lip scar to make it less conspicuous, (2) incorporation of the scar into the philtral column, (3) a biconcave natural philtral column shape in frontal view, and (4) formation of the natural concave philtral contour in profile view. PMID:25714266

  14. Curvilinear transformation of z-shaped upper lip scar by diamond-shaped excision in secondary cleft lip deformities: a photogrammetric evaluation.

    PubMed

    Han, Kihwan; Jeong, Hoijoon; Choi, Tae Hyun; Kim, Jun Hyung; Son, Daegu

    2015-03-01

    Purpose : The visible Z-shaped upper lip scar that occurs after the Tennison and Randall triangular flap technique remains a cleft stigma. Herein, we present our curvilinear transformation technique for the Z-shaped upper lip scar by diamond-shaped excision and evaluate the results using photogrammetric analyses. Patients and Methods : From 1997 to 2006, 23 patients with secondary cleft lip deformity with the visible Z-shaped upper lip scar underwent correction with the technique. The scar was excised in the diamond shape above the muscle. After curvilinear closure, the elongated length of the upper lip was excised just below the nostril sill, as the measured Cupid's bow height discrepancy. The result was assessed by the authors' standardized photogrammetry technique. Results : There was a statistically significant decrease between the preoperative central limb of the Z-shaped scar and the width of the postoperative curvilinear upper lip scar. The pre- and postoperative Cupid's bow height differences were not statistically significant. Conclusions : The curvilinear transformation of the Z-shaped scar is an efficient procedure that provides (1) a significant decrease in the width of an upper lip scar to make it less conspicuous, (2) incorporation of the scar into the philtral column, (3) a biconcave natural philtral column shape in frontal view, and (4) formation of the natural concave philtral contour in profile view.

  15. A Multivariate Analysis of Unilateral Cleft Lip and Palate Facial Skeletal Morphology.

    PubMed

    Starbuck, John M; Ghoneima, Ahmed; Kula, Katherine

    2015-07-01

    Unilateral cleft lip and palate (UCLP) occurs when the maxillary and nasal facial prominences fail to fuse correctly during development, resulting in a palatal cleft and clefted soft and hard tissues of the dentoalveolus. The UCLP deformity may compromise an individual's ability to eat, chew, and speak. In this retrospective cross-sectional study, cone beam computed tomography (CBCT) images of 7-17-year-old individuals born with UCLP (n = 24) and age- and sex-matched controls (n = 24) were assessed. Coordinate values of three-dimensional anatomical landmarks (n = 32) were recorded from each CBCT image. Data were evaluated using principal coordinates analysis (PCOORD) and Euclidean distance matrix analysis (EDMA). Approximately 40% of morphometric variation is captured by PCOORD axes 1-3, and the negative and positive ends of each axis are associated with specific patterns of morphological differences. Approximately 36% of facial skeletal measures significantly differ by confidence interval testing (α = 0.10) between samples. Although significant form differences occur across the facial skeleton, strong patterns of morphological differences were localized to the lateral and superioinferior aspects of the nasal aperture, particularly on the clefted side of the face. The UCLP deformity strongly influences facial skeletal morphology of the midface and oronasal facial regions, and to a lesser extent the upper and lower facial skeletons. The pattern of strong morphological differences in the oronasal region combined with differences across the facial complex suggests that craniofacial bones are integrated and covary, despite influences from the congenital cleft. PMID:26163844

  16. [Ethics and best practice in the consulting management of children with cleft lip and palate, and their parents].

    PubMed

    Chancholle, A R; Saboye, J

    2000-11-01

    Surgical treatment is only one part of the management of the child with cleft lip and palate. This paper exclusively focuses on other important aspects of this management. This includes the information and psychological supports of the parents, whether the cleft lip is diagnosed prenatally or at birth, the practical aspects of the consultation within the team of the different specialists involved (surgeon, anesthetist, dentist, orthodontist, speech therapist, otorhinolaryngologist, geneticist, child psychologist). The school teacher must also be concerned at the beginning of the first school year.

  17. Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Nonsyndromic Cleft Lip and/or Palate.

    PubMed

    Waltrick-Zambuzzi, Márcia; Tannure, Patricia Nivoloni; Vieira, Thays Cristine Dos Santos; Antunes, Leonardo Santos; Romano, Fábio Lourenço; Zambuzzi, Willian Fernando; Granjeiro, José Mauro; Küchler, Erika Calvano

    2015-01-01

    The aim of this study was to evaluate the association of the polymorphisms in TCN2 (rs1801198) gene and in MTRR (rs1801394) gene with nonsyndromic cleft lip and/or palate (NSCL/P) in a Brazilian population. Genomic DNA was extracted from buccal cells. The polymorphisms in TCN2 (rs1801198) and MTRR (rs1801394) genes were genotyped by carrying out real-time PCR and Taqman assay. Chi-square test was used to determine the association between genotype and allele frequencies with NSCL/P and NSCL/P subgroups (cleft lip only, cleft lip and palate, and cleft palate only). Eight hundred and sixty seven unrelated individuals (401 cases with NSCL/P and 466 individuals without cleft) were evaluated. Genotype distributions of TCN2 and MTRR polymorphisms were in Hardy-Weinberg equilibrium. The TCN2 polymorphic genotype GG was identified in 16.7% of the NSCL/P group and in 14.1% of the non-cleft group (p>0.05). Similarly, the frequency of MTRR genotype (GG) was similar in NSCL/P group (15.5%) and control group (17.8%) (p>0.05). Multivariate analysis showed an association between MTRR and the subgroup that the mother smoked during pregnancy (p=0.039). Our findings did not demonstrate an association between TCN2 polymorphisms and NSCL/P, however suggests an association between MTRR and NSCL/P etiology. PMID:26963196

  18. An Analysis of the Frame-Content Theory in Babble of 9-Month-Old Babies with Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Stout, Gwendolyn; Hardin-Jones, Mary; Chapman, Kathy L.

    2011-01-01

    The aim of this study was to examine the consonant-vowel co-occurrence patterns predicted by the Frame-Content theory in 16 nine-month-old babies with unrepaired cleft palate ([plus or minus]cleft lip) and 16 age-matched non-cleft babies. Babble from these babies was phonetically transcribed and grouped according to the intrasyllabic predictions…

  19. Behavioral Signs of (Central) Auditory Processing Disorder in Children With Nonsyndromic Cleft Lip and/or Palate: A Parental Questionnaire Approach.

    PubMed

    Ma, Xiaoran; McPherson, Bradley; Ma, Lian

    2016-03-01

    Objective Children with nonsyndromic cleft lip and/or palate often have a high prevalence of middle ear dysfunction. However, there are also indications that they may have a higher prevalence of (central) auditory processing disorder. This study used Fisher's Auditory Problems Checklist for caregivers to determine whether children with nonsyndromic cleft lip and/or palate have potentially more auditory processing difficulties compared with craniofacially normal children. Methods Caregivers of 147 school-aged children with nonsyndromic cleft lip and/or palate were recruited for the study. This group was divided into three subgroups: cleft lip, cleft palate, and cleft lip and palate. Caregivers of 60 craniofacially normal children were recruited as a control group. Hearing health tests were conducted to evaluate peripheral hearing. Caregivers of children who passed this assessment battery completed Fisher's Auditory Problems Checklist, which contains 25 questions related to behaviors linked to (central) auditory processing disorder. Results Children with cleft palate showed the lowest scores on the Fisher's Auditory Problems Checklist questionnaire, consistent with a higher index of suspicion for (central) auditory processing disorder. There was a significant difference in the manifestation of (central) auditory processing disorder-linked behaviors between the cleft palate and the control groups. The most common behaviors reported in the nonsyndromic cleft lip and/or palate group were short attention span and reduced learning motivation, along with hearing difficulties in noise. Conclusion A higher occurrence of (central) auditory processing disorder-linked behaviors were found in children with nonsyndromic cleft lip and/or palate, particularly cleft palate. Auditory processing abilities should not be ignored in children with nonsyndromic cleft lip and/or palate, and it is necessary to consider assessment tests for (central) auditory processing disorder when an

  20. Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

    PubMed Central

    Sharma, Deepak; Kumar, Chetan; Bhalerao, Sanjay; Pandita, Aakash; Shastri, Sweta; Sharma, Pradeep

    2015-01-01

    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis. PMID:26137453

  1. Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination.

    PubMed

    Sharma, Deepak; Kumar, Chetan; Bhalerao, Sanjay; Pandita, Aakash; Shastri, Sweta; Sharma, Pradeep

    2015-01-01

    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand-split foot-ectodermal dysplasia-cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis. PMID:26137453

  2. [Risk factors for teeth aplasia and hypoplasia in cleft lip and palate children].

    PubMed

    Korolenkova, M V; Starikova, N V; Ageeva, L V

    2016-01-01

    The aim of the study was to assess the significance of environmental risk factors for teeth aplasia and hypoplasia in cleft lip and palate children. Two hundred and forty-seven cleft lip and palate (CLP) children were enrolled in the study including 105 (42.5%) with bilateral CLP and 57.5% with unilateral CLP. The mean age was 11.2±4.9 years. Teeth condition was assessed clinically and radiologically. The impact of risk factors for teeth anomalies was analyzed by retrospective data obtained from computer database (absence of preoperative orthopedic treatment, palatal defects after primary palatoplasty and type of primary procedures). Surgical trauma by early periosteoplasty (at the age of 3-4 months), excessive scarring and tissue traction due to absence of early orthopedic treatment and palatal defect were associated with significantly higher incidence of incisors hypoplasia (both developmental enamel defects and microdentia) and aplasia of central incisors not seen in the other study subgroups. Incisors aplasia and hypoplasia in CLP patients do not always have disembryogenic origin but may depend on external environmental factors, including surgical trauma.

  3. Auditory complaints and audiologic assessment in children with surgically repaired cleft lip and palate

    PubMed Central

    Lourenço Cerom, Jaqueline; Renata José, Maria; Azenha, Fabiana de Souza Pinto; Macedo, Camila de Cássia; Alvarenga, Kátia de Freitas; Lopes, Andréa Cintra; Feniman, Mariza Ribeiro

    2013-01-01

    Summary Introduction: At the initial consultation, the speech–language pathologist and audiologist may consider possible diagnostic hypotheses based on the child's history and the parents' complaint. Aim: To investigate the association of hearing complaints with the findings obtained in the conventional audiologic assessment in children with cleft lip and palate. Retrospective study. Methods: We analyzed medical charts of 1000 patients with cleft lip and palate who underwent surgical repair between 1988 and 1995 at a mean age of 6 years 8 months. We excluded charts with records of inconsistent audiological responses and charts with missing data for any of the audiologic evaluations considered. Thus, the sample consisted of 393 records. Results: Two hundred thirty-nine patients presented hearing loss in one or both ears, but only 3.8% reported hearing complaints. The most frequent were otorrhea followed by otalgia. There was no statistical significance between the complaint and gender (p = 0.26) nor between the complaint and hearing loss (p = 0.83). Conclusion: This study showed no association between the hearing complaint and the conventional audiologic assessment. PMID:25992011

  4. The effect of Delaire cheilorhinoplasty on midfacial growth in patients with unilateral cleft lip and palate.

    PubMed

    Rullo, Rosario; Laino, Gregorio; Cataneo, Marisa; Mazzarella, Nicoletta; Festa, Vincenzo Maria; Gombos, Fernando

    2009-02-01

    The aim of this research was to evaluate the effect of the Delaire surgical technique on the midfacial morphology in a group of subjects with a congenital unilateral cleft of lip and palate (UCLP), prior to orthodontic treatment. Thirty-five UCLP (15 left and 20 right) patients (16 males and 19 females, mean age 7.03+/-0.9 years; age range 8.7-5.0 years), treated for the correction of congenital malformation, were retrospectively selected. Analysis of midfacial growth was undertaken on lateral cephalograms, and the data were compared with reference values (Ricketts analysis). A Mann-Whitney ranked sum test was used to detect significant differences between the findings and reference values. P cleft lip might be responsible for excessive maxillary retropositioning with a downward rotation.

  5. Basal View Reference Photographs for Nasolabial Appearance Rating in Unilateral Cleft Lip and Palate.

    PubMed

    Rubin, Marcie S; Lowe, Kristen M; Clouston, Sean; Shetye, Pradip R; Warren, Stephen M; Grayson, Barry H

    2015-07-01

    The Asher-McDade system is a 5-point ordinal scale frequently used to rate the components of nasolabial appearance, including nasal form and nasal symmetry, in unilateral cleft lip and palate. Although reference photographs illustrating this scale have been identified for the frontal and right profile view, no reference photographs exist for the basal view. The aim of this study was to identify reference photographs for nasal form and nasal symmetry from the basal view to illustrate this scale and facilitate its use. Four raters assessed nasolabial appearance (form and symmetry) on basal view photographs of 50 children (average age 8 years) with a repaired cleft lip. Intraclass correlation coefficients show fair to moderate inter-rater reliability. Cronbach α indicated strong agreement between raters (0.77 nasal form; 0.78 nasal symmetry; 0.80 overall), along with low duplicate measurement error and strong internal consistency between the measures. The photographs with the highest agreement among raters were selected to illustrate each point on the 5-point scale for nasal form and for nasal symmetry, resulting in the selection of 10 reference photographs. The basal view reference photograph set developed from this study may complement existing reference photograph sets for other views and facilitate rating tasks.

  6. Tobacco smoking and oral clefts: a meta-analysis.

    PubMed Central

    Little, Julian; Cardy, Amanda; Munger, Ronald G.

    2004-01-01

    OBJECTIVE: To examine the association between maternal smoking and non-syndromic orofacial clefts in infants. METHODS: A meta-analysis of the association between maternal smoking during pregnancy was carried out using data from 24 case-control and cohort studies. FINDINGS: Consistent, moderate and statistically significant associations were found between maternal smoking and cleft lip, with or without cleft palate (relative risk 1.34, 95% confidence interval 1.25-1.44) and between maternal smoking and cleft palate (relative risk 1.22, 95% confidence interval 1.10-1.35). There was evidence of a modest dose-response effect for cleft lip with or without cleft palate. CONCLUSION: The evidence of an association between maternal tobacco smoking and orofacial clefts is strong enough to justify its use in anti-smoking campaigns. PMID:15112010

  7. 3-D shape analysis of palatal surface in patients with unilateral complete cleft lip and palate.

    PubMed

    Rusková, Hana; Bejdová, Sárka; Peterka, Miroslav; Krajíček, Václav; Velemínská, Jana

    2014-07-01

    Facial development of patients with unilateral complete cleft lip and palate (UCLP) is associated with many problems including deformity of the palate. The aim of this study was to evaluate palatal morphology and variability in patients with UCLP compared with Czech norms using methods of geometric morphometrics. The study was based on virtual dental cast analysis of 29 UCLP patients and 29 control individuals at the age of 15 years. The variability of palatal shape in UCLP patients was greater than that in nonclefted palates. Only 24% of clefted palates fell within the variability of controls. The palatal form of UCLP patients (range from 11.8 to 17.2 years) was not correlated with age. Compared with control palates, palates of UCLP patients were narrower, more anteriorly than posteriorly. Apart from the praemaxilla region, they were also shallower, and the difference increased posteriorly. The UCLP palate was characterised by the asymmetry of its vault. The maximum height of the palatal vault was anterior on the clefted side, whereas it was posterior on the nonclefted side. The slope of the UCLP palate was more inclined compared with the control group. The praemaxilla was therefore situated more inferiorly.

  8. [Evaluation of the timing of orthodontic arch expansion and graft in cleft lip and palate].

    PubMed

    Chang, Le; Wang, Yingnan; Liu, Hongyan

    2016-04-01

    Maxillary transverse growth is inhibited by congenital cleft, early surgical scar strain, and oppression of lipmuscles in patients with cleft lip and palate. Clinical manifestations have shown severely constricted maxilla, insufficientmaxillary width, mismatch of upper and lower dental arches, and crossbite. Alveolar bone graft and arch expansion can effectively correct the deficiency in maxillary width. This paper discusses the timing and success rate of alveolar bone graft, as wellas the relationship between alveolar bone graft and arch expansion. Secondary alveolar bone graft is optimally performed beforepermanent canine eruption, especially when the teeth have formed between half and three quarters of their roots. Rapid maxillaryexpansion prior to alveolar bone graft is beneficial because this process increases the gap of the cleft, expands bone graft, andreduces the difficulty. However, the stability of this process remains controversial. Small-scale studies have reported that rapidmaxillary expansion after alveolar bone graft can open the midpalatal suture without bone graft loss. Slow maxillary expansioncan provide continuous light forces to reconstruct the bone. However, these studies are coordinated with fixed orthodontictreatment. Further research is necessary to determine the effects of maxillary expansion on long-term stability of teeth. PMID:27337934

  9. Association of Transforming Growth Factor Alpha Polymorphisms with Nonsyndromic Cleft Lip and Palate in Iranian Population

    PubMed Central

    Ebadifar, Asghar; Hamedi, Roya; Khorram Khorshid, Hamid Reza; Saliminejad, Kioomars; Kamali, Koorosh; Aghakhani Moghadam, Fatemeh; Esmaeili Anvar, Nazanin; Ameli, Nazilla

    2015-01-01

    Background: Cleft lip with or without cleft palate (CL/P) is one of the most common congenital anomalies and the etiology of orofacial clefts is multifactorial. Transforming growth factor alpha (TGFA) is expressed at the medial edge epithelium of fusing palatal shelves during craniofacial development. In this study, the association of two important TGFA gene polymorphisms, BamHI (rs11466297) and RsaI (rs3732248), with CL/P was evaluated in an Iranian population. Methods: The frequencies of BamHI and RsaI variations were determined in 105 unrelated Iranian subjects with nonsyndromic CL/P and 218 control subjects using PCR and RFLP methods, and the results were compared with healthy controls. A p-value of <0.05 was considered statistically significant. Results: The BamHI AC genotype was significantly higher (p=0.016) in the patients (12.4%) than the control group (5.0%). The BamHI C allele was significantly higher (p=0.001; OR=3.4, 95% CI: 1.6–7.4) in the cases (8.0%) compared with the control group (2.5%). Conclusion: Our study showed that there was an association between the TGFA BamHI variation and nonsyndromic CL/P in Iranian population. PMID:26605011

  10. Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry.

    PubMed

    do Rego Borges, Andrea; Sá, Jamile; Hoshi, Ryuichi; Viena, Camila Sane; Mariano, Lorena C; de Castro Veiga, Patricia; Medrado, Alena Peixoto; Machado, Renato Assis; de Aquino, Sibele Nascimento; Messetti, Ana Camila; Spritz, Richard A; Coletta, Ricardo D; Reis, Silvia R A

    2015-10-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL ± P) is the most common orofacial birth defect, exhibiting variable prevalence around the world, often attributed to ethnic and environmental differences. Linkage analyses and genome-wide association studies have identified several genomic susceptibility regions for NSCL ± P, mostly in European-derived or Asian populations. Genetic predisposition to NSCL ± P is ethnicity-dependent, and the genetic basis of susceptibility to NSCL ± P likely varies among populations. The population of Brazil is highly admixed, with highly variable ancestry; thus, the genetic determinants of NSCL ± P susceptibility may be quite different. This study tested association of 8 single-nucleotide polymorphisms (SNPs), previously identified by genome-wide studies in other populations, with NSCL ± P in a Brazilian population with high African ancestry. SNPs rs560426, rs642961, rs1530300, rs987525, rs3758249, rs7078160, rs17085106, and rs13041247 were genotyped in 293 Brazilian patients with NSCL ± P and 352 unaffected Brazilian controls. Each sample was also genotyped for 40 biallelic short insertion/deletion polymorphic markers to characterize genetic ancestry. The average African ancestry background was 31.1% for the NSCL ± P group and 36.7% for the control group. After adjustment for ancestry and multiple testing, the minor alleles of rs3758249 (OR: 1.58, 95% CI: 1.25-2.01, P = 0.0001) and rs7078160 (OR: 1.59, 95% CI: 1.21-2.07, P = 0.0002) were significantly associated with risk of NSCL ± P. Polymorphisms located in IRF6 (rs642961) and 8q24 (rs1530300 and rs987525) showed marginal associations in this Brazilian population with high African ancestry. These results indicate that rs3758249 at 9q22 and rs7078160 at 10q25.3 represent risk loci for NSCL ± P in the Brazilian population with high African ancestry.

  11. Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.

    PubMed

    Beaty, T H; Taub, M A; Scott, A F; Murray, J C; Marazita, M L; Schwender, H; Parker, M M; Hetmanski, J B; Balakrishnan, P; Mansilla, M A; Mangold, E; Ludwig, K U; Noethen, M M; Rubini, M; Elcioglu, N; Ruczinski, I

    2013-07-01

    A collection of 1,108 case-parent trios ascertained through an isolated, nonsyndromic cleft lip with or without cleft palate (CL/P) was used to replicate the findings from a genome-wide association study (GWAS) conducted by Beaty et al. (Nat Genet 42:525-529, 2010), where four different genes/regions were identified as influencing risk to CL/P. Tagging SNPs for 33 different genes were genotyped (1,269 SNPs). All four of the genes originally identified as showing genome-wide significance (IRF6, ABCA4 and MAF, plus the 8q24 region) were confirmed in this independent sample of trios (who were primarily of European and Southeast Asian ancestry). In addition, eight genes classified as 'second tier' hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample. Meta-analysis between the original GWAS trios and these replication trios showed PAX7, COL8A1/FILIP1L and NTN1 achieved genome-wide significance. Tests for gene-environment interaction between these 33 genes and maternal smoking found evidence for interaction with two additional genes: GRID2 and ELAVL2 among European mothers (who had a higher rate of smoking than Asian mothers). Formal tests for gene-gene interaction (epistasis) failed to show evidence of statistical interaction in any simple fashion. This study confirms that many different genes influence risk to CL/P.

  12. Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC), is a rare genetic disorder due to mutations in the TP63 gene. In the present study, we characterized the pattern of growth and body composition, and the nutritional and gastrointestinal aspects of children and adults (n = 18) affected ...

  13. Maxillary Arch Dimensions and Spectral Characteristics of Children with Cleft Lip and Palate Who Produce Middorsum Palatal Stops

    ERIC Educational Resources Information Center

    Zajac, David J.; Cevidanes, Lucia; Shah, Sonam; Haley, Katarina L.

    2012-01-01

    Purpose: The purpose of this study was twofold: (a) to determine maxillary arch dimensions of children with repaired cleft lip and palate (CLP) who produced middorsum palatal stops and (b) to describe some spectral characteristics of middorsum palatal stops. Method: Maxillary arch width, length, and height dimensions and first spectral moments of…

  14. The Effect of Cleft Lip on Cognitive Development in School-Aged Children: A Paradigm for Examining Sensitive Period Effects

    ERIC Educational Resources Information Center

    Hentges, Francoise; Hill, Jonathan; Bishop, Dorothy V. M.; Goodacre, Tim; Moss, Tony; Murray, Lynne

    2011-01-01

    Background: Our previous investigation showed that infants with cleft lip who had undergone late (three-month) surgical repair (but not those with early, neonatal, repair) had significantly poorer cognitive development at 18 months than a group of unaffected control children. These differences were mediated by the quality of early mother-infant…

  15. Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate

    PubMed Central

    Xu, Hao; Niu, Yonghua; Wang, Tao; Liu, Simin; Xu, Hua; Wang, Shaogang; Liu, Jihong; Ye, Zhangqun

    2015-01-01

    Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia and is sometimes associated with cleft lip/palate (CLP). In order to describe the clinical features, genetic etiology, and treatment outcome of KS males with CLP, we performed genetic screening for 15 known causal IHH genes (KAL1, FGFR1, NELF, FGF8, CHD7, WDR11, SEMA3A, KISS1R, KISS1, PROKR2, PROK2, TAC3, TACR3, GNRH1, and GNRHR) in four KS with CLP patients and six IHH patients without CLP. Two novel heterozygous missense mutations in FGFR1, (NM_001174066): c.776G>A (p.G259E) and (NM_001174066): c.358C>T (p.R120C), were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively. These two mutations were not presented in their healthy parents and 200 normal controls. One novel heterozygous missense mutation in KISS1R, (NM_032551): c.587C>A (p.P196H), was identified in an 18-year-old KS male with cleft lip and dental agenesis who developed sperm after being treated with gonadotropin. This mutation was also presented in his healthy father and grandfather. These results have implications for the diagnosis, genetic counseling, and treatment of KS and CLP males with mutations in FGFR1 gene. PMID:26199944

  16. Experience of teenagers born with cleft lip and/or palate and interventions of the health nurse.

    PubMed

    Chapados, C

    2000-01-01

    The objective of this study was to describe and understand the experiences of teenagers with cleft lip and/or palate. The human ecology approach of Bronfenbrenner (1979) was chosen as a basis for this study. From this perspective, the living environment of teenagers with cleft lip and/or palate was considered, and as such, qualitative research from an ethnographic standpoint was conducted. The data were collected by semistructured interviews and recorded on magnetic tape. Ten teenagers, between 15 and 17 years of age, were chosen and consulted while undergoing therapeutic treatment and surgery in a cleft lip and/or palate clinic. The results of this study indicate that teenagers born with this congenital malformation experience various physical, functional, or interactional problems throughout their development. To improve this situation, nursing care has been developed to enable the nurse to act within the multidisciplinary team treating cleft lip and/or palate cases, thereby allowing the teenager to develop in an environment that offers a better quality of life.

  17. Development and Validation of the Quality-of-Life Adolescent Cleft Questionnaire in Patients With Cleft Lip and Palate

    PubMed Central

    Piombino, Pasquale; Ruggiero, Federica; Dell’Aversana Orabona, Giovanni; Scopelliti, Domenico; Bianchi, Alberto; De Simone, Federica; Carnevale, Nina; Brancati, Federica; Iengo, Maurizio; Grassia, Maria Gabriella; Cataldo, Rosanna; Califano, Luigi

    2014-01-01

    Abstract Only a few reports in the literature have described the use of specific instruments for assessing the quality of life in adolescents and young adults with cleft lip and palate (CLP). This condition markedly affects their lifestyle, even after surgical treatment. In the present study, we aimed to develop a quality-of-life assessment tool specifically designed for such patients with CLP. Our multidisciplinary team created a questionnaire focused on the physical, psychological, and social satisfaction of adolescents and young adults with CLP, which was adapted from 3 dimensions of the 36-item Short-Form Health Survey. The questionnaire was administered to a randomized sample of 40 adolescents and young adults (aged 16–24 years) with CLP who had completed treatment protocols and 40 (aged 16–24 years) who were not affected by CLP. The statistical results stated that the questionnaire had good reliability and validity; the Cronbach α coefficient was found to be 0.944. Moreover, factorial analysis confirmed the presence of 3 subscales that were the fundamental components of this questionnaire, which is consistent with the areas theoretically proposed and from which the items were designed and selected. Thus, we validated our novel questionnaire that was administered in the present study and proved its consistency. However, further investigations on a larger population would be useful to confirm these findings. PMID:25010834

  18. Development and validation of the quality-of-life adolescent cleft questionnaire in patients with cleft lip and palate.

    PubMed

    Piombino, Pasquale; Ruggiero, Federica; Dell'Aversana Orabona, Giovanni; Scopelliti, Domenico; Bianchi, Alberto; De Simone, Federica; Carnevale, Nina; Brancati, Federica; Iengo, Maurizio; Grassia, Maria Gabriella; Cataldo, Rosanna; Califano, Luigi

    2014-09-01

    Only a few reports in the literature have described the use of specific instruments for assessing the quality of life in adolescents and young adults with cleft lip and palate (CLP). This condition markedly affects their lifestyle, even after surgical treatment. In the present study, we aimed to develop a quality-of-life assessment tool specifically designed for such patients with CLP. Our multidisciplinary team created a questionnaire focused on the physical, psychological, and social satisfaction of adolescents and young adults with CLP, which was adapted from 3 dimensions of the 36-item Short-Form Health Survey. The questionnaire was administered to a randomized sample of 40 adolescents and young adults (aged 16-24 years) with CLP who had completed treatment protocols and 40 (aged 16-24 years) who were not affected by CLP. The statistical results stated that the questionnaire had good reliability and validity; the Cronbach α coefficient was found to be 0.944. Moreover, factorial analysis confirmed the presence of 3 subscales that were the fundamental components of this questionnaire, which is consistent with the areas theoretically proposed and from which the items were designed and selected. Thus, we validated our novel questionnaire that was administered in the present study and proved its consistency. However, further investigations on a larger population would be useful to confirm these findings.

  19. A longitudinal group study of speech development in Danish children born with and without cleft lip and palate.

    PubMed

    Hutters, B; Bau, A; Brøndsted, K

    2001-01-01

    The present study focuses on contoid vocalization by Danish 1-year-old unrepaired toddlers born with cleft lip and palate, and how they differ from their non-cleft peers. Furthermore, we focus on how the same children master Danish consonants at 3 years of age compared with their non-cleft peers in terms of their ability to produce consonants in accordance with adult target. Also, with the 3 year olds, we look at cleft speech characteristics as well as developmental speech characteristics found in both groups of children. Based on phonetic transcription, it was found that Danish unoperated cleft palate children at 1 year of age produced few types of contoids and preferably contoids that did not require closure of the velopharyngeal port in their prespeech. In addition, the data suggest that consonants produced by cleft children who are treated with one-stage surgery after speech onset, at 3 years of age differ from speech produced by non-cleft children, not only as regards cleft speech characteristics, but also as regards developmental speech characteristics.

  20. Postoperative complications from primary repair of cleft lip and palate in a semi-urban Nigerian teaching hospital

    PubMed Central

    Adesina, Oluwafemi Adewale; Efunkoya, Akinwale Adeyemi; Omeje, Kelvin Uchenna; Idon, Paul Ikhodaro

    2016-01-01

    Background: This paper seeks to investigate the incidence of short-term postoperative complications in children and adult patients undergoing primary surgery of cleft lip and palate. Patients and Methods: One hundred and fifteen patients consisting of children (below 12 years) and adult (12 years and above) who were operated for both cleft lip and palate within a 2-year period at the University of Maiduguri Teaching Hospital were reviewed postoperatively at 1 week, 2 weeks, 1 month, 3 months, 6 months, and 1 year intervals, respectively. The complications encountered within the periods of the review were recorded. Results: One hundred and twenty surgeries were performed on 115 patients (85 children 30 Adults). A total of 43 complications (31 in children and 12 in adults) were recorded over the study period. Eighteen (41.9%) of these complications were noticed in unilateral cleft lip repair, while 12 (27.9%) and 13 (30.2%) complications were observed in bilateral cleft lip and cleft palate surgeries, respectively. A higher complication rate (72.0%) was recorded in children compared with adults. Major complications (13.9%) were, however, observed more in adults than children. Conclusion: Although every surgeon attempts to prevent complications during surgery, they may still occur. The high complication rate observed in our study may be due to a small sample size. General complications observed among children are due to cross infection during a hospital stay, contributing immensely to the higher rate of complications in children. Moreover, this may be reduced by short hospital stay following surgery. We also advocate early contact with children with cleft, and early surgical intervention in other to prevent some of the major complications encountered in adult patients. PMID:27397954

  1. Soft tissue profile changes of reverse headgear treatment in Chinese boys with complete unilateral cleft lip and palate.

    PubMed

    Chen, K F; So, L L

    1997-01-01

    Midface retrusion in cleft lip and palate patients often results in personal, social, and psychological problems, along with the functional difficulty. Hence, soft tissue profile improvement in early childhood is of obvious importance. The purpose of this study was to investigate the soft tissue changes that occur during reverse headgear treatment in a homogeneous sample of Chinese boys born with unilateral complete cleft lip and palate. Boys with a similar congenital deformity and presenting similar skeletal morphology and maturity status were included for comparison. After 7.8 months of reverse headgear treatment, the soft tissue profile improved significantly as the concave tendency associated with maxillary deficiency decreased. The sagittal maxillomandibular lip relationship and the Holdaway angle increased significantly by 4.25 and 3.94 degrees, respectively.

  2. Risk of Oral Clefts (Cleft Lip and/or Palate) in Infants Born to Mothers Taking Topamax (Topiramate)

    MedlinePlus

    ... topiramate labels are being updated with the new information describing the increased risk of oral clefts. Q8. Does FDA have post marketing adverse event reports of oral clefts with topiramate? ...

  3. A congenital true teratoma with cleft lip, palate, and columellar sinus.

    PubMed

    Işken, Tonguç; Alagöz, M Sahin; Günlemez, Ayla; Unal, Ciğdem; Sen, Cenk; Onyedi, Murat; Işil, Eda; Izmirli, Hakki; Yücel, Ergin

    2007-09-01

    Teratomas, the most common extragonadal germ cell tumor of childhood, involve at least two of the ectodermal, mesodermal, and endodermal layers. Of the teratomas seen in the first 2 months of life, 82% are sacrococcygeal. The head and neck region is the second most common location for teratomas in early infancy, accounting for five (14%) of those cases. We describe a female neonate with a teratoma of the nasopharyngeal area, bilateral cleft palate/lip, and columellar sinus pathologies. The mass, which was 8 x 5 x 7 cm and soft in consistency, blocked the airway and prevented oral feeding. On macroscopic examination of the excised mass, there was a notable typical cilia arrangement and lower eyelid appearance. The patient, who was diagnosed with a well-differentiated teratoma after the pathologic examination, did not have any complications in the postoperative period.

  4. Self-perceptions of romantic appeal in adolescents with a cleft lip and/or palate.

    PubMed

    Feragen, Kristin Billaud; Stock, Nicola Marie; Sharratt, Nicholas David; Kvalem, Ingela Lundin

    2016-09-01

    During adolescence, romantic relationships are a key developmental milestone. Coupled with the increasing salience of appearance and social acceptance, adolescents with an appearance-altering condition may feel particularly vulnerable when it comes to romantic relationships. This study aimed to explore the prevalence of romantic experiences among adolescents with a cleft lip and/or palate (CL/P), and to investigate how these experiences could be related to depressive symptoms and global self-worth. The study included 661 Norwegian adolescents with CL/P, who were compared to a large national sample. The prevalence of romantic relationships was lower among adolescents with CL/P compared to the reference group, although the overall impact on depressive symptoms and global self-worth appeared to be low. This study is one of few to explore the impact of a congenital visible condition on experiences of romantic relationships and provides preliminary insight into a significant, yet complex topic.

  5. Self-perceptions of romantic appeal in adolescents with a cleft lip and/or palate.

    PubMed

    Feragen, Kristin Billaud; Stock, Nicola Marie; Sharratt, Nicholas David; Kvalem, Ingela Lundin

    2016-09-01

    During adolescence, romantic relationships are a key developmental milestone. Coupled with the increasing salience of appearance and social acceptance, adolescents with an appearance-altering condition may feel particularly vulnerable when it comes to romantic relationships. This study aimed to explore the prevalence of romantic experiences among adolescents with a cleft lip and/or palate (CL/P), and to investigate how these experiences could be related to depressive symptoms and global self-worth. The study included 661 Norwegian adolescents with CL/P, who were compared to a large national sample. The prevalence of romantic relationships was lower among adolescents with CL/P compared to the reference group, although the overall impact on depressive symptoms and global self-worth appeared to be low. This study is one of few to explore the impact of a congenital visible condition on experiences of romantic relationships and provides preliminary insight into a significant, yet complex topic. PMID:27459395

  6. Repositioning of premaxilla in bilateral cleft lip and palate using a "J-hook headgear".

    PubMed

    Kecik, Defne; Enacar, Ayhan

    2006-11-01

    The purpose of this clinical approach is to present the successful treatment of the severely protruded and extruded premaxilla with high-pull J-hook headgear. Two patients with bilateral cleft lip and palate deformity and a protruding and extruding premaxilla causing a deep bite were treated with high-pull J-hook headgear and fixed orthodontic appliances. The lateral cephalometric measurements before and after orthodontic treatment were evaluated with Ricketts analysis. The premaxillae of the two patients were repositioned, correcting the deep overbite and overjet and a well-functioning occlusion was attained. The repositioning of an inferiorly positioned and protruded premaxilla with J-hook headgear is an alternative treatment approach compared to other treatment modalities.

  7. International confederation for cleft lip and palate and related craniofacial anomalies task force report: beyond eurocleft.

    PubMed

    Semb, Gunvor

    2014-11-01

    The assigned objective for the Task Force Beyond Eurocleft was "to make recommendations for initiations of local and/or participation in multi-national cleft outcome studies and consist of individuals from the European experience with cleft outcome studies (Scandcleft, Eurocleft) and those who have initiated, or intend to initiate, similar studies in other geographical areas." By May 2013 the Task Force (TF) consisted of 183 members from 59 countries. It was agreed that this initiative should be truly global and include all cleft specialties as well as representatives from cleft support groups in recognition of the huge commitment for improving cleft care worldwide. The vision for this group is to build a dynamic, well-functioning TF that will work globally and be multidisciplinary with inclusive and respectful behavior to improve care for all individuals born with cleft lip and/or palate. As there is a large diversity in needs and interest in the group a range of parallel approaches would be required depending on the experience, resources, and challenges of regions, teams, and individuals. Important ideas for future work were: (1) Work on a global survey of access, existing outcome studies, current collaborations, and lessons learned. (2) Work towards the creation of a lasting, living resource for newcomers to intercenter collaboration that is kept fresh with new reports, copies of relevant publications, model grant applications, and a list of volunteers with the right experience to provide support and guidance for new initiatives. (3) Develop simple online training modules to provide information about the benefits and principles of multidisciplinary care, collaborative data collection and auditing short and longer-term outcomes. (4) Establish subgroups that will work within all regions of the world with regional and national leaders identified. An evaluation of current standards of care should be undertaken and country/region specific remedies to optimize

  8. International confederation for cleft lip and palate and related craniofacial anomalies task force report: beyond eurocleft.

    PubMed

    Semb, Gunvor

    2014-11-01

    The assigned objective for the Task Force Beyond Eurocleft was "to make recommendations for initiations of local and/or participation in multi-national cleft outcome studies and consist of individuals from the European experience with cleft outcome studies (Scandcleft, Eurocleft) and those who have initiated, or intend to initiate, similar studies in other geographical areas." By May 2013 the Task Force (TF) consisted of 183 members from 59 countries. It was agreed that this initiative should be truly global and include all cleft specialties as well as representatives from cleft support groups in recognition of the huge commitment for improving cleft care worldwide. The vision for this group is to build a dynamic, well-functioning TF that will work globally and be multidisciplinary with inclusive and respectful behavior to improve care for all individuals born with cleft lip and/or palate. As there is a large diversity in needs and interest in the group a range of parallel approaches would be required depending on the experience, resources, and challenges of regions, teams, and individuals. Important ideas for future work were: (1) Work on a global survey of access, existing outcome studies, current collaborations, and lessons learned. (2) Work towards the creation of a lasting, living resource for newcomers to intercenter collaboration that is kept fresh with new reports, copies of relevant publications, model grant applications, and a list of volunteers with the right experience to provide support and guidance for new initiatives. (3) Develop simple online training modules to provide information about the benefits and principles of multidisciplinary care, collaborative data collection and auditing short and longer-term outcomes. (4) Establish subgroups that will work within all regions of the world with regional and national leaders identified. An evaluation of current standards of care should be undertaken and country/region specific remedies to optimize

  9. Prosthodontic Rehabilitation Alternative of Patients with Cleft Lip and Palate (CLP): Two Cases Report

    PubMed Central

    Ayna, Emrah; Başaran, Emine Göncü; Beydemir, Köksal

    2009-01-01

    Although patients with cleft lip and palate (CLP) are not seen regularly in general dental practice, this is a frequent congenital anomaly; approximately one in every 800 live births results in a CLP. The cause of CLP is unknown, but possible causes are malnutrition and irradiation during pregnancy, psychological stress, teratogenic agents, infectious agents (viruses), and inheritance. Most clefts are likely caused by multiple genetic and nongenetic factors. Prosthetic reconstruction of the anterior maxilla is important for these patients. This paper describes the prosthetic rehabilitation of two patients with CLP, 19-year-old and 21-year-old women, both with surgically treated CLP. In both, an examination revealed a residual palatal defect of 2 × 3 mm and missing maxillary lateral incisors. The 19-year-old was treated with a fiber-reinforced composite resin-bonded fixed partial denture. The 21-year-old was treated with a removable partial denture with an extracoronal attachment system. The prosthetic rehabilitation of the two patients with CLP was evaluated clinically. In both, well-planned prosthetic, periodontal, and surgical therapy resulted in satisfactory function and esthetics, alleviating their deformities. With education and appropriate recall, the patients should be able to maintain their oral health. PMID:20339573

  10. Interdisciplinary treatment of an adult with a unilateral cleft lip and palate

    PubMed Central

    Al-Ruwaithi, Moatazbellah M; Al-Fraidi, Ahmad A; Al-Tamimi, Tawfiq S; Al-Shehri, Ali S

    2014-01-01

    The management of cleft lip and palate (CLP) requires an interdisciplinary team providing comprehensive care. The present report presents an interdisciplinary approach for the care of a cleft patient. A 17-year-old male patient presented with a a chief complaint of “unpleasant appearance of my teeth” and a history of surgical repair of unilateral CLP on the left side. He presented with Class III molar relationships, Class II canine relationships, crossbite related to maxillary right first premolar and lateral incisor, severe maxillary and mandibular crowding, maxillary anterior tooth size deficiency, congenitally missing upper left lateral incisor. Patient was treated with a pre-adjusted edgewise appliance in conjunction with extraction of multiple teeth and distalization of the lower right first molar using a temporary anchorage device. In addition, alveolar bone graft and implant were placed to restore the missing upper left lateral incisor and a final esthetic work was performed for anterior teeth. The case was finished with Class I molar and canine relationships, minimal overjet and overbite. Total treatment time was about 31 months with satisfactory results. Post-treatment evaluation after 8 months showed stable results. PMID:24987659

  11. The Importance of Multidisciplinary Management during Prenatal Care for Cleft Lip and Palate

    PubMed Central

    Han, Hyun Ho; Choi, Eun Jeong; Kim, Ji Min; Shin, Jong Chul

    2016-01-01

    Background The prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P) and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach can be beneficial for parents and their infants. In this report, we share our experiences with the prenatal detection of CL/P and the multidisciplinary management of this malformation in our institution's Congenital Disease Center. Methods The multidisciplinary team of the Congenital Disease Center for mothers of children with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians, and psychiatrists. A total of 11 fetuses were diagnosed with CL/P from March 2009 to December 2013, and their mothers were referred to the Congenital Disease Center of our hospital. When CL/P is suspected in the prenatal ultrasound screening examination, the pregnant woman is referred to our center for further evaluation. Results The abortion rate was 28% (3/11). The concordance rate of the sonographic and final diagnoses was 100%. Ten women (91%) reported that they were satisfied with the multidisciplinary management in our center. Conclusions Although a child with a birth defect is unlikely to be received well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening and who underwent multidisciplinary team management were more likely to decide to continue their pregnancy. PMID:27019808

  12. Considerations on morphological abnormalities of permanent teeth in children with cleft lip and palate.

    PubMed

    Răducanu, Anca Maria; Didilescu, Andreea Cristiana; Feraru, Ion Victor; Dumitrache, Mihaela Adina; Hănţoiu, Tudor Alexandru; Ionescu, Ecaterina

    2015-01-01

    Oral clefts are commonly associated with dental anomalies of number, size, shape, structure, position and eruption affecting both dentitions. Dental malformations may affect the development, growth and functions of the dento-maxillary apparatus (chewing, aesthetics, speech). The purpose of this paper was to assess the dental morphological variations in a group of patients with cleft lip and/or palate (CLP), as compared with a group of healthy subjects. The study sample included 48 patients with various types of CLP (15 girls and 33 boys) aged between 12.6 years and 17.3 years. The control group (without CLP) consisted of 1447 patients (545 girls and 903 boys). The proportion of patients with dental shape anomalies in the control group was 8.6%, while the proportion of patients with dental shape anomalies in the CLP group was 56.3% (p<0.01). With this regards, the frontal area was more affected in CLP group than controls. The most common morphological abnormality in the control group was supplementary cusp, while in the CLP sample it was dilaceration. Teeth from the dental hemiarch affected by CLP were most affected in their morphology.

  13. Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population

    PubMed Central

    2011-01-01

    Background Bone morphogenetic protein 4 gene (BMP4) plays a key role during maxillofacial development, since orofacial clefts are observed in animals when this gene is conditionally inactivated. We recently reported the existence of association between nonsyndromic cleft lip/palate (NSCLP) and BMP4 polymorphisms by detecting transmission deviations for haplotypes that include a region containing a BMP4 promoter in case-parent trios. The aim of the present study was to search for possible causal mutations within BMP4 promoters (BMP4.1 and BMP4.2). Methods We analyzed the sequence of BMP4.1 and BMP4.2 in 167 Chilean NSCLP cases and 336 controls. Results We detected three novel variants in BMP4.1 (c.-5514G > A, c.-5365C > T and c.-5049C > T) which could be considered as cleft risk factors due to their absence in controls. Additionally, rs2855530 G allele (BMP4.2) carriers showed an increased risk for NSCLP restricted to males (OR = 1.52; 95% C.I. = 1.07-2.15; p = 0.019). For this same SNP the dominant genotype model showed a higher frequency of G/G+G/C and a lower frequency of C/C in cases than controls in the total sample (p = 0.03) and in the male sample (p = 0.003). Bioinformatic prediction analysis showed that all the risk variants detected in this study could create new transcription factor binding motifs. Conclusions The sex-dependent association between rs2855530 and NSCLP could indirectly be related to the differential gene expression observed between sexes in animal models. We concluded that risk variants detected herein could potentially alter BMP4 promoter activity in NSCLP. Further functional and developmental studies are necessary to support this hypothesis. PMID:22182590

  14. Nasal airway and septal variation in unilateral and bilateral cleft lip and palate.

    PubMed

    Starbuck, John M; Friel, Michael T; Ghoneima, Ahmed; Flores, Roberto L; Tholpady, Sunil; Kula, Katherine

    2014-10-01

    Cleft lip and palate (CLP) affects the dentoalveolar and nasolabial facial regions. Internal and external nasal dysmorphology may persist in individuals born with CLP despite surgical interventions. 7-18 year old individuals born with unilateral and bilateral CLP (n = 50) were retrospectively assessed using cone beam computed tomography. Anterior, middle, and posterior nasal airway volumes were measured on each facial side. Septal deviation was measured at the anterior and posterior nasal spine, and the midpoint between these two locations. Data were evaluated using principal components analysis (PCA), multivariate analysis of variance (MANOVA), and post-hoc ANOVA tests. PCA results show partial separation in high dimensional space along PC1 (48.5% variance) based on age groups and partial separation along PC2 (29.8% variance) based on CLP type and septal deviation patterns. MANOVA results indicate that age (P = 0.007) and CLP type (P ≤ 0.001) significantly affect nasal airway volume and septal deviation. ANOVA results indicate that anterior nasal volume is significantly affected by age (P ≤ 0.001), whereas septal deviation patterns are significantly affected by CLP type (P ≤ 0.001). Age and CLP type affect nasal airway volume and septal deviation patterns. Nasal airway volumes tend to be reduced on the clefted sides of the face relative to non-clefted sides of the face. Nasal airway volumes tend to strongly increase with age, whereas septal deviation values tend to increase only slightly with age. These results suggest that functional nasal breathing may be impaired in individuals born with the unilateral and bilateral CLP deformity. PMID:24976342

  15. Alveolar graft in the cleft lip and palate patient: Review of 104 cases

    PubMed Central

    Tobella-Camps, María L.; Rivera-Baró, Alejandro

    2014-01-01

    Introduction: Alveolar bone grafting is a vital part of the rehabilitation of cleft patients. The factors that have been most frequently associated with the success of the graft are the age at grafting and the pre-grafting orthodontic treatment. Objectives: 1) Describe the cases of alveolar bone grafts performed at the Maxilofacial Unit of Hospital Sant Joan de Déu, Barcelona (HSJD); and 2) Analyze the success/failure of alveolar grafts and related variables. Material and Methods: Descriptive retrospective study using a sample of 104 patients who underwent a secondary alveolar graft at the Craniofacial Unit of HSJD between 1998 and 2012. The graft was done by the same surgeon in all patients using bone from the iliac crest. Results: 70% of the patients underwent the procedure before the age of 15 (median 14.45 years); 70% of the graft patients underwent pre-graft maxillary expansion. A total of 100 cases were recorded as successful (median age of 14.58 years, 68 underwent pre-graft expansion) and only 4 were recorded as failures (median age of 17.62 years, 3 underwent pre-graft expansion). We did not find statistically significant differences in age at the time of grafting or pre-surgical expansion when comparing the success and failure groups. We found the success rate of the graft to be 96.2%. Conclusions: The number of failures was too small to establish a statistically significant conclusion in our sample regarding the age at grafting and pre-grafting expansion. The use of alveolar bone grafting from the iliac crest has a very high success rate with a very low incidence of complications. Existing controversies regarding secondary bone grafting and the wide range of success rates found in the literature suggest that it is necessary to establish a specific treatment protocol that ensures the success of this procedure. Key words:Alveolar graft, cleft lip and palate, alveolar cleft, alveolar defect. PMID:24880440

  16. 3D evaluation of maxillary arches in unilateral cleft lip and palate patients treated with nasoalveolar moulding vs. Hotz's plate.

    PubMed

    Cerón-Zapata, A M; López-Palacio, A M; Rodriguez-Ardila, M J; Berrio-Gutiérrez, L M; De Menezes, M; Sforza, C

    2016-02-01

    To compare the three-dimensional changes occurring in the maxillary arch during the use of modified pre-surgical nasoalveolar moulding (PNAM) and Hotz's plate. A clinical trial including 32 children with unilateral cleft lip and palate (UCLP), 16 treated with Hotz's plate and 16 with PNAM, was performed. Impressions of the maxillary arches were taken: A. prior to pre-surgical orthopaedics, B. before cheiloplasty and C. after cheiloplasty. Models were digitised using a stereophotogrammetric instrument, and geodesic distances were calculated: anterior, canine and posterior widths of the arch, and lengths and cleft depths of the larger and shorter segments. The time and treatment effects were assessed by two-factor anova. A significant effect of treatment was found for cleft depth at the larger segment: children treated with Hotz's plate had significantly deeper cleft than children treated with PNAM. All distances significantly changed during time: the anterior and canine widths decreased, while the posterior width, the lengths and depths of the cleft segments increased. Significant treatment per time interactions was found. The anterior and canine widths reduced more with PNAM between time points A and B while Hotz's treatment was more effective between B and C. The shorter segment depth increased more between B and C with PNAM, and between A and B with Hotz's plate. During pre-surgical orthopaedics, therapy with PNAM obtained the best results in reducing the width at the anterior segment of the cleft. This treatment gave a lower increase in cleft depth than treatment with Hotz's plate.

  17. Accelerated Wound Closure In Vitro by Fibroblasts from a Subgroup of Cleft Lip/Palate Patients: Role of Transforming Growth Factor-α

    PubMed Central

    Beyeler, Joël; Schnyder, Isabelle; Katsaros, Christos; Chiquet, Matthias

    2014-01-01

    In a fraction of patients surgically treated for cleft lip/palate, excessive scarring disturbs maxillary growth and dento-alveolar development. Since certain genes are involved in craniofacial morphogenesis as well as tissue repair, a primary defect causing cleft lip/palate could lead to altered wound healing. We performed in vitro wound healing assays with primary lip fibroblasts from 16 cleft lip/palate patients. Nine foreskin fibroblast strains were included for comparison. Cells were grown to confluency and scratch wounds were applied; wound closure was monitored morphometrically over time. Wound closure rate showed highly significant differences between fibroblast strains. Statistically, fibroblast strains from the 25 individuals could be divided into three migratory groups, namely “fast”, “intermediate”, and “slow”. Most cleft lip/palate fibroblasts were distributed between the “fast” (5 strains) and the “intermediate” group (10 strains). These phenotypes were stable over different cell passages from the same individual. Expression of genes involved in cleft lip/palate and wound repair was determined by quantitative PCR. Transforming growth factor-α mRNA was significantly up-regulated in the “fast” group. 5 ng/ml transforming growth factor-α added to the culture medium increased the wound closure rate of cleft lip/palate strains from the “intermediate” migratory group to the level of the “fast”, but had no effect on the latter group. Conversely, antibody to transforming growth factor-α or a specific inhibitor of its receptor most effectively reduced the wound closure rate of “fast” cleft lip/palate strains. Thus, fibroblasts from a distinct subgroup of cleft lip/palate patients exhibit an increased migration rate into wounds in vitro, which is linked to higher transforming growth factor-α expression and attenuated by interfering with its signaling. PMID:25360592

  18. Three-Dimensional Upper Lip and Nostril Sill Changes After Cleft Alveolus Reconstruction Using Autologous Bone Grafting Versus Recombinant Human Bone Morphogenetic Protein-2.

    PubMed

    Raposo-Amaral, Cassio Eduardo; Denadai, Rafael; Alonso, Nivaldo

    2016-06-01

    Cleft alveolus in patients with unilateral complete cleft lip and palate has been alternatively reconstructed with recombinant human bone morphogenetic protein (rhBMP)-2. However, its effects on upper lip and nostril sill anatomy are not known. Thus, the objective of this investigation was to assess and compare upper lip and nostril sill changes after cleft alveolus reconstruction with autologous bone from the iliac crest region and rhBMP-2. Patients were randomly allocated into 2 groups. In group 1, autologous bone from the iliac crest region was used to fill the cleft alveolus (n = 4), and in group 2, rhBMP-2 was used to fill the cleft alveolus (n = 8). Preoperatively and at one after the surgery, computerized tomography (CT) was performed. Reformatted CT imaging was used to perform cephalometric linear measurements of the upper lip and nostril sill regions. Inter- and intragroup data of the pre and postoperative reformatted CT measurements of the upper lip and nostril sill regions did not show differences (P >0.05) in cutaneous upper lip height and projection, nostril sill elevation, and subnasale projection. There were no significant upper lip and nostril sill anatomical changes after cleft alveolus reconstruction using autologous bone grafting and rhBMP-2. PMID:27244210

  19. Evaluation of homocysteine levels in individuals having nonsyndromic cleft lip with or without palate

    PubMed Central

    Abdulla, Riaz; Tellis, Rouchelle Charmaine; Athikari, Roshan; Kudkuli, Jagadish

    2016-01-01

    Context: Nonsyndromic cleft lip with or without palate (NSCL ± P) is a genetic predisposition involving defects in shape and makeup of the lip and palate. Elevation of homocysteine (Hcy) levels is seen in medical complications such as developmental anomalies causing neural tube defects, congenital vascular diseases, neurodegenerative and psychiatric conditions. Evaluation of serum Hcy levels forms an important feature to look further into molecular aspects. Aims: The aim of this study was to evaluate the Hcy levels in NSCL ± P cases by comparing with control cases having no orofacial deformities. Settings and Design: This study was performed with a biochemical assay in a research laboratory. Materials and Methods: A cross-sectional prevalence study was done to compare the concentrations of Hcy between 25 NSCL ± P patients and 15 healthy controls. Blood samples were collected from both the patients and controls and assessed for serum Hcy level using competent chemiluminescent immunoassay technique. Statistical Analysis Used: Student's t-test was used for statistical analysis. Results: The average Hcy concentration was 9.5 μmol/L in control group. There was an increase in Hcy concentration among the NSCL ± P cases with an average value of 18.4 μmol/L. The results were found to be statistically significant using Student's t-test. Conclusions: The results of this study indicate that Hcy concentration has a significant elevation in NSCL ± P patients when compared with that of control cases. PMID:27721602

  20. Development of overjet and dentoskeletal relations in unilateral cleft lip and palate before and during puberty.

    PubMed

    Smahel, Z; Müllerová, Z; Skvarilová, B; Stránská, P

    1994-01-01

    Roentgencephalometry was used for the assessment of the development of clinically important facial characteristics in complete unilateral cleft lip and palate during the prepubertal and pubertal period. Thirty-one patients aged 8 and 11 years and 30 patients aged 11 and 14 years were examined repeatedly. All of them were operated upon and orthodontically treated with the same methods. An unfavorable development of facial convexity, sagittal jaw relations, configuration of the soft profile, and of the prominence of the upper lip occurred during both periods. An improvement of overjet that was attained during the prepubertal period showed a renewed impairment during the period of puberty. The impairment was not caused by the higher facial growth rate, but was attributable to the exhaustion of the compensation and adaptation mechanisms of the dentoalveolar component of the upper jaw produced by the preceding orthodontic therapy. The development of sagittal jaw relations and of facial rotation was not related to the initial patterns of these characteristics, but the possibility of an improvement of the inclination of upper incisors and of overjet was influenced by their initial pattern. During the prepubertal period the development of overjet was not related to the development of sagittal jaw relations or of mandibular growth rotation, as was the case during puberty.

  1. Evaluating aesthetics of the nasolabial region in children with cleft lip and palate: professional analysis and patient satisfaction

    PubMed Central

    Paiva, Tatiana Saito; Andre, Marcia

    2012-01-01

    Cleft lip and palate is one of the most common deformities of the craniofacial region, and treatment of this deformity is essential for social reintegration. One of the major goals of surgery and treatment of craniofacial deformities is to improve the aesthetic appearance of the face, and thereby improve the patient’s social acceptability. Here, we present a critical review of the criteria for aesthetic evaluation of the nasolabial region in cleft patients by assessing publications with the highest level of evidence, including professional evaluation, and patient satisfaction. The findings indicate treatment of this condition represents a major challenge for multidisciplinary team care. PMID:23152672

  2. Self-esteem, coping styles, and quality of life in polish adolescents and young adults with unilateral cleft lip and palate.

    PubMed

    Pisula, Ewa; Lukowska, Ewa; Fudalej, Piotr S

    2014-05-01

    Objectives : To evaluate self-esteem, coping styles, and health-related quality of life and their relationships in Polish adolescents and young adults with unilateral complete cleft lip and palate and related sex differences. Design and Participants : Self-report questionnaires measuring self-esteem (Multidimensional Self-Esteem Inventory), coping styles (Coping Inventory for Stressful Situations), and health-related quality of life (WHOQOL-BREF) were completed by 48 participants with cleft lip and palate (age, 16 to 23 years; 31 males, 17 females) and 48 controls without cleft lip and palate (age, 16 to 23 years; 28 males, 20 females) matched for age, place of residence, and socioeconomic status. Results : Regarding self-esteem, individuals with cleft lip and palate scored higher on body functioning (P < .01) and defensive self-enhancement (P < .05). Self-control showed an interaction effect: Females with cleft lip and palate scored higher than controls, but males did not differ between groups (P < .05). Males with cleft lip and palate scored lower than controls in personal power but higher in body functioning (P < .05); females showed no differences between groups. The groups did not differ with regard to coping styles or quality of life, but several correlations were found between self-esteem and coping styles, and quality of life (P < .01). Conclusions : Late adolescents and young adults with and without cleft lip and palate differed little in terms of psychological adjustment measures. The higher scores in defensive self-enhancement of individuals with cleft lip and palate suggest the need for instruments measuring social approval in psychosocial adjustment research involving this group. PMID:23902271

  3. Self-esteem, coping styles, and quality of life in polish adolescents and young adults with unilateral cleft lip and palate.

    PubMed

    Pisula, Ewa; Lukowska, Ewa; Fudalej, Piotr S

    2014-05-01

    Objectives : To evaluate self-esteem, coping styles, and health-related quality of life and their relationships in Polish adolescents and young adults with unilateral complete cleft lip and palate and related sex differences. Design and Participants : Self-report questionnaires measuring self-esteem (Multidimensional Self-Esteem Inventory), coping styles (Coping Inventory for Stressful Situations), and health-related quality of life (WHOQOL-BREF) were completed by 48 participants with cleft lip and palate (age, 16 to 23 years; 31 males, 17 females) and 48 controls without cleft lip and palate (age, 16 to 23 years; 28 males, 20 females) matched for age, place of residence, and socioeconomic status. Results : Regarding self-esteem, individuals with cleft lip and palate scored higher on body functioning (P < .01) and defensive self-enhancement (P < .05). Self-control showed an interaction effect: Females with cleft lip and palate scored higher than controls, but males did not differ between groups (P < .05). Males with cleft lip and palate scored lower than controls in personal power but higher in body functioning (P < .05); females showed no differences between groups. The groups did not differ with regard to coping styles or quality of life, but several correlations were found between self-esteem and coping styles, and quality of life (P < .01). Conclusions : Late adolescents and young adults with and without cleft lip and palate differed little in terms of psychological adjustment measures. The higher scores in defensive self-enhancement of individuals with cleft lip and palate suggest the need for instruments measuring social approval in psychosocial adjustment research involving this group.

  4. Parent and child ratings of satisfaction with speech and facial appearance in Flemish pre-pubescent boys and girls with unilateral cleft lip and palate.

    PubMed

    Van Lierde, K M; Dhaeseleer, E; Luyten, A; Van De Woestijne, K; Vermeersch, H; Roche, N

    2012-02-01

    The purpose of this controlled study is to determine satisfaction with speech and facial appearance in Flemish pre-pubescent children with unilateral cleft lip and palate. Forty-three subjects with unilateral cleft lip and palate and 43 age and gender matched controls participated in this study. The Cleft Evaluation Profile was used to assess the perceived satisfaction for individual features related to cleft care. Both the cleft palate subjects and their parents were satisfied with the speech and facial appearance. The Pearson χ(2) test revealed significant difference between the cleft palate and the control group regarding hearing, nasal aesthetics and function, and the appearance of the lip. An in depth analysis of well specified speech characteristics revealed that children with clefts and their parents significantly more often reported the presence of an articulation, voice and resonance disorder and experienced /s/ /r/ /t/ and /d/ as the most difficult consonants. To what extent the incorporation of specific motor oriented oral speech techniques regarding the realisation of specific consonants, attention to vocal and ear care, and the recommendation of secondary velopharyngeal surgery, with the incorporation of primary correction of the cleft nose deformity simultaneously with primary lip closure, will aid these patients are future research subjects.

  5. [Study on the relationship between congenital toxoplasmosis and monsters of cleft lip and palate accompanied by multiple malformation

    PubMed

    Gu, S Z; Lu, S; Ma, Y W

    1992-12-01

    Toxoplasomsis is a zoonotic disease resulted from toxoplasma infection,This paper reports ten monsters that suffered from congenital cleft lip and palate accompanied antigens(RCEP,COA test) were positive.Toxoplasma antibodies (IHA,IFA,RIPEGA test) in mothers' serum were also positive.Microscopic examination revealed toxoplasma trophozoites and pseudocysts in the tissue of cleft lip and palate as well as viscera.In addition,We used SPA method to reveal toxoplasma in the tissue.We indicate that toxoplasma infection of pregnant women is one of the cause of monsters.It is the important biological factor and closely related to eugenics.Stomatologists must pay attention to this etiology.

  6. Unilateral cleft lip/nose repair using an equal bows /straight line advancement technique - A preliminary report and postoperative symmetry-based anthropometry.

    PubMed

    Hakim, Samer George; Aschoff, Horst Heinrich; Jacobsen, Hans-Christian; Sieg, Peter

    2014-04-01

    In the evolution of cleft lip repair there has been continuous attempt to minimize local trauma, improve lip and nasal appearance and, especially, prevent conspicuous scars. The surgical technique presented meets these criteria, resulting in an appropriate scar course in children with a specific philtral ridge shape. Postoperative digital anthropometry was performed in 18 patients who underwent unilateral cleft lip repair using the equal bows/straight line advancement technique and in matched healthy control individuals. Symmetry values were assessed for lip length, philtral ridge length, vermilion height, width of the alar base, nasocanthal length, circumference of the nostrils, nostril width and height in both cleft and control groups. Evaluation revealed no significant differences in the symmetry values between cleft patients and control group (lip length: p = 0.71, philtral ridge length: p = 0.52, vermilion height: p = 0.23, alar base width: p = 0.69, nasocanthal length: p = 0.25, nostril circumference: p = 0.17, nostril width: p = 0.34, nostril height: p = 0.33). Principles of cleft lip repair can be achieved using the described technique which provides adequate lip length and natural nasal appearance in patients with a parallel-shaped philtral ridge.

  7. A new primary cleft lip repair technique tailored for Asian patients that combines three surgical concepts: Comparison with rotation--advancement and straight-line methods.

    PubMed

    Funayama, Emi; Yamamoto, Yuhei; Furukawa, Hiroshi; Murao, Naoki; Shichinohe, Ryuji; Hayashi, Toshihiko; Oyama, Akihiko

    2016-01-01

    Various techniques have been described for unilateral cleft lip repair. These may be broadly classified into three types of procedure/concept: the straight-line method (SL; Rose-Thompson effect); rotation-advancement (RA; upper-lip Z-plasty); and the triangular flap method (TA; lower-lip Z-plasty). Based on these procedures, cleft lip repair has evolved in recent decades. The cleft lip repair method in our institution has also undergone several changes. However, we have found that further modifications are needed for Asian patients who have wider philtral dimples and columns than Caucasians, while following the principles of the original techniques mentioned above. Here, we have incorporated the advantages of each procedure and propose a refined hybrid operating technique, seeking a more appropriate procedure for Asian patients. To evaluate our new technique, a comparison study was performed to evaluate RA, SL, and our technique. We have used our new technique to treat 137 consecutive cleft lip cases of all types and degrees of severity, with or without a cleft palate, since 2009. In the time since we adopted the hybrid technique, we have observed improved esthetics of the repaired lip. Our technique demonstrated higher glance impression average scores than RA/SL.

  8. Nonsyndromic cleft lip and palate: CRISPLD Genes and the Folate Gene Pathway Connection

    PubMed Central

    Chiquet, Brett T.; Henry, Robin; Burt, Amber; Mulliken, John B.; Stal, Samuel; Blanton, Susan H.; Hecht, Jacqueline T.

    2014-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect that has a multifactorial etiology. Despite having substantial genetic liability, less than 15% of the genetic contribution to NSCLP has been delineated. In our efforts to dissect the genetics of NSCLP, we found that variation in the CRISPLD2 (cysteine rich secretory protein LCCL domain containing 2) gene is associated with NSCLP and that the protein is expressed in the developing murine craniofacies. In addition, we found suggestive linkage of NSCLP (LOD>1.0) to the chromosomal region on 8q13.2-21.13 that contains the CRISPLD1 gene. The protein products of both CRISPLD1 and CRISPLD2 contain more cysteine residues than comparably sized proteins. Interestingly, the folic acid pathway produces endogenous cysteines, and variation in genes in this pathway is associated with NSCLP. Based on these observations, we hypothesized that variation in CRISPLD1 contributes to NSCLP and that both CRISPLD genes interact with each other and genes in the folic acid pathway. SNPs in CRISPLD1 were genotyped in our nonHispanic white and Hispanic multiplex and simplex NSCLP families. There was little evidence for a role of variation for CRISPLD1 alone in NSCLP. However, interactions were detected between CRISPLD1/CRISPLD2 SNPs and variation in folate pathway genes. Altered transmission of one CRISPLD1 SNP was detected in the nonHispanic white simplex families. Importantly, interactions were detected between SNPs in CRISPLD1 and CRISPLD2 (15 interactions, 0.0031≤p<0.05). These novel findings suggest that CRISPLD1 plays a role in NSCLP through the interaction with CRISPLD2 and folate pathway genes. PMID:21254358

  9. Columella Lengthening with a Full-Thickness Skin Graft for Secondary Bilateral Cleft Lip and Nose Repair

    PubMed Central

    Lee, Yoon Seok; Shin, Dong Hyeok; Choi, Hyun Gon; Kim, Jee Nam; Lee, Myung Chul; Kim, Soon Heum; Kim, Cheol Keun; Jo, Dong In

    2015-01-01

    Background Various techniques for lengthening short columellae have been used for bilateral cleft nose repair. However, previous methods have not yielded satisfactory results. We performed a full-thickness skin graft to lengthen short columellae during secondary cleft nose repair in adult patients. Methods Ten bilateral cleft lip and nose patients underwent secondary cheiloplasty with open rhinoplasty between July 2008 and August 2014. The patients underwent a full-thickness skin graft on the medial crura to elongate the columella. The average age of the patients at the time of surgery was 22.2 years. Nasal profiles were evaluated before and after the operation using the photogrammetric method. Results The nasal profiles were improved in all patients, and all skin grafts were well taken, with the exception of one patient. Columellar height, nostril height, and columella-lip angle increased, and nasal width decreased significantly. The ratios of columellar height to nasal height, columellar height to nasal width, and nasal height to nasal width increased to a statistically significant extent. Conclusions Columella lengthening with a full-thickness skin graft is a simple and effective method for the repair of severely short columellae in bilateral cleft nose patients. We had satisfactory outcomes, with good color matching and aesthetically pleasing contours. PMID:26618116

  10. Reading Achievement in Boys With Non-Syndromic Cleft Palate Only: Relationship to Neuropsychological Skill and Neurocircuitry.

    PubMed

    Conrad, Amy L; Richman, Lynn; Nopoulos, Peggy

    2015-01-01

    Reading achievement and neural activation during a reading task were evaluated among boys with isolated cleft palate only (iCP) in comparison to unaffected controls. Ten boys with iCP and 10 unaffected boys between the ages of 8 and 16 years old were assessed. Standardized assessments of intelligence and reading achievement were administered and participants underwent a block-design functional magnetic resonance imaging protocol using non-word rhyming and judgment of line tasks. Among the 10 boys with iCP, reading fluency correlated with phonological awareness and visual memory. Neural activation was increased in regions of the brain associated with a non-fluent/dyslexic reading pattern.

  11. Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate

    SciTech Connect

    Feng, Hongshu; Lee, A.; Gasser, D.L.; Sassani, R.; Bartlett, S.P.; Buetow, K.H.; Hecht, J.T.; Malcolm, S.; Winter, R.M.; Vintiner, G.M.

    1994-11-01

    The inheritance of alleles of the transforming growth factor alpha (TGFA) locus has been studied in families affected with cleft lip with or without cleft palate (CL/P), by using the transmission/disequilibrium test described by Spielman and colleagues. Only heterozygous parents with an affected child can be included in this test, but within such families a significantly greater frequency of C2 alleles were transmitted to affected children than would be expected by chance. There was no evidence that the total number of C2 alleles transmitted to affected and unaffected children differed significantly from random segregation. These data provide evidence from within families that a gene for susceptibility to CL/P is in significant linkage disequilibrium with the C2 allele of the TGFA locus. 30 refs., 1 fig., 2 tabs.

  12. Teleducation about Cleft Lip and Palate: An Interdisciplinary Approach in the Promotion of Health

    PubMed Central

    Corrêa, Camila de Castro; Freire, Thais; Zabeu, Júlia Speranza; Martins, Aline; Ferreira, Rafael; Francisconi, Paulo Afonso Silveira; Dutka, Jeniffer de Cássia Rillo; Blasca, Wanderléia Quinhoeiro

    2015-01-01

    Introduction The Young Doctor Project (YDP) uses Telehealth and Interactive Teleducation instruments to promote the integration of different areas of health and to build knowledge. This methodology can also foster public awareness on various issues related to health. In this context, the objective of this study was to emphasize cleft lip and palate (CLP), which is one of the most common birth defects in Brazil. Objective The study aimed to apply a model of education regarding CLP, based on the dynamics of the YDP, and to evaluate the participants' knowledge acquired after participating in the YDP. Methods The participants were 41 students, 13 to 15 years of age and at the eight- and ninth-grade levels in a private elementary school in Bauru (Brazil). To analyze the performance of the participants, a questionnaire was administered before and after the completion of the training program. The training program was structured in three steps using: (1) interactive teleducation classes, (2) a cybertutor, and (3) practical activities. Results There was a statistically significant difference between the pre- and postparticipation questionnaire results. The improved performance of participants is evidenced by the increase in the rate of correct answers on all issues. Conclusion The YDP on CLP was applied in the school setting following the three steps recommended by the project, and, after the implementation of the training program, there was a significant increase in participants' knowledge of CLP. The YDP on CLP proved an effective tool in promoting health education. PMID:25992163

  13. The Multidisciplinary Management of Fused Maxillary Lateral Incisor with a Supernumerary Tooth in Cleft Lip Adolescence

    PubMed Central

    Yagci, Ahmet; Cantekin, Kenan; Buyuk, Suleyman Kutalmis; Pala, Kansad

    2014-01-01

    Fusion, an uncommon anomaly of the hard dental tissues, is potentially the cause of clinical problems related to esthetics, tooth spacing, and other periodontal complications. This paper describes a multidisciplinary approach involving surgical, endodontic, restorative, and orthodontic attention for the successful, functional, and esthetic rehabilitation of a maxillary left lateral incisor fused with a supernumerary tooth in unilateral cleft lip adolescence in contralateral side. After clinical and radiographic examinations, a fusion between the left maxillary lateral incisor and a supernumerary tooth was diagnosed in the patient, and a small connection was detected between the pulp systems of the two root canals. The case reported in this paper presents the successful resolution of a fused maxillary lateral incisor with a supernumerary tooth, using endodontic, surgical, restorative, and orthodontic management. The decision made in extracting or retaining the fused tooth depends on the arch discrepancy and esthetic needs. Future studies, with long-term followup, will be helpful in evaluating the long-term efficacy of the different treatment options. PMID:24516763

  14. Automatic detection of articulation disorders in children with cleft lip and palate.

    PubMed

    Maier, Andreas; Hönig, Florian; Bocklet, Tobias; Nöth, Elmar; Stelzle, Florian; Nkenke, Emeka; Schuster, Maria

    2009-11-01

    Speech of children with cleft lip and palate (CLP) is sometimes still disordered even after adequate surgical and nonsurgical therapies. Such speech shows complex articulation disorders, which are usually assessed perceptually, consuming time and manpower. Hence, there is a need for an easy to apply and reliable automatic method. To create a reference for an automatic system, speech data of 58 children with CLP were assessed perceptually by experienced speech therapists for characteristic phonetic disorders at the phoneme level. The first part of the article aims to detect such characteristics by a semiautomatic procedure and the second to evaluate a fully automatic, thus simple, procedure. The methods are based on a combination of speech processing algorithms. The semiautomatic method achieves moderate to good agreement (kappa approximately 0.6) for the detection of all phonetic disorders. On a speaker level, significant correlations between the perceptual evaluation and the automatic system of 0.89 are obtained. The fully automatic system yields a correlation on the speaker level of 0.81 to the perceptual evaluation. This correlation is in the range of the inter-rater correlation of the listeners. The automatic speech evaluation is able to detect phonetic disorders at an experts'level without any additional human postprocessing.

  15. Facial growth after primary periosteoplasty versus primary bone grafting in unilateral cleft lip and palate.

    PubMed

    Sameshima, G T; Banh, D S; Smahel, Z; Melnick, M

    1996-07-01

    A cephalometric evaluation of long-term changes resulting from two different surgical techniques for the correction of unilateral cleft lip and palate (UCLP) was undertaken on a sample of 19 males with primary bone grafting, and 42 males with primary periosteoplasty from the Science Academy of the Czech Republic, Prague. Lateral cephalometric radiographs collected at approximately 10 and 15 years of age were traced, digitized, and analyzed using the finite-element method. Facial growth and development between the two groups were compared. Significant differences between the two groups were found in the upper face, the posterior part of the maxilla, the anterior bony chin, and nasal bone areas. The periosteoplasty group demonstrated significantly greater vertical development between anterior cranial base and the maxilla. The bony chin was larger and a greater inferior displacement of the posterior palate were found in the periosteoplasty group. An increased proclination in the nasal bone was observed in the bone graft group. This investigation both confirms the findings of a previous study of these sample populations, and provides additional important details regarding the differences between the groups.

  16. Aesthetic outcome of cleft lip and palate treatment. Perceptions of patients, families, and health professionals compared to the general public.

    PubMed

    Gkantidis, Nikolaos; Papamanou, Despina A; Christou, Panagiotis; Topouzelis, Nikolaos

    2013-10-01

    The aesthetic outcome of cleft treatment is of great importance due to its complex management and the psychosocial consequences of this defect. The aim of the study was to assess the aesthetic evaluations of patients following cleft surgery by various groups and investigate potential associations of the assessments with life quality parameters. Head photos of 12 adult patients with treated unilateral cleft lip and palate were evaluated by laypeople and professionals. A questionnaire was distributed and answered by the patients and their parents. Intra-panel agreement was high (α > 0.8) for laypeople and professionals. Between-groups agreement was high for both laypeople and professionals, but not when patients and/or parents were tested. Professionals, parents, and patients were more satisfied with patients' appearance than laypeople, although in general all groups were not highly satisfied. Low satisfaction with aesthetics correlated with increased self-reported influence of the cleft in the patients' social activity and professional life (0.56 < rho < 0.74, p < 0.05). These findings highlight the observed negative influence of the cleft on the patient's social activity and professional life and underline the need for the highest quality of surgical outcome for this group of patients.

  17. Exposure of Cleft Lip and Palate Patients to Toxic Elements Released during Orthodontic Treatment in the Study of Non-Invasive Matrices

    PubMed Central

    Mikulewicz, Marcin; Kachniarz, Krzysztof; Chojnacka, Katarzyna

    2015-01-01

    The Objective The aim of the study was evaluation of metal ions (nickel and chromium) released from orthodontic appliances in cleft lip and palate patients and the usefulness of non-invasive matrices (saliva and hair). Materials and Methods The material studied consisted of 100 individuals, including 59 females and 41 males of 5 to 16 years of age, which were divided into 3 groups: experimental–patients with cleft lip and palate (36 individuals, the average treatment time 5.74 years); control group–patients without cleft lip and palate, during orthodontic treatment (32 individuals, the average treatment time 1.78 years) and the control group patients without cleft lip and palate, without any orthodontic appliances (32 individuals). Samples (saliva, hair) were collected and subjects underwent a survey by questionnaire. Multi-elemental analyses of the composition of non-invasive matrices was conducted in an accredited laboratory by inductively coupled plasma spectrometry technique ICP-OES. The results were reported as mean contents of particular elements (Cd, Cr, Cu, Fe, Mn, Mo, Ni, Si) in hair and in saliva. Results The concentration of Cr, Ni, Fe and Cu ions in saliva of cleft lip and palate patients were several times higher as compared with not treated orthodontically control groups and higher than in the group with orthodontic appliances. Among the assessed matrices, hair of cleft lip and palate patients seem to be not a meaningful biomarker. Conclusion It was found that orthodontic appliances used in long-term treatment of cleft lip and palate patients do not release toxic levels of Cr and Ni ions. PMID:26544176

  18. Occurrence of consonant production errors in liquid phonemes in children with operated cleft lip and palate

    PubMed Central

    PRANDINI, Estefânia Leite; PEGORARO-KROOK, Maria Inês; DUTKA, Jeniffer de Cássia Rillo; MARINO, Viviane Cristina de Castro

    2011-01-01

    Information about the prevalence of consonant production errors, including compensatory articulations (CA), in individuals with cleft lip and palate (CLP) who speak Brazilian Portuguese is limited, particularly regarding liquid sounds. The literature primarily reports the occurrence of CA for plosive and fricative sounds, since occurrence of CAs in sounds that require higher amounts of oral air pressure is expected. While the use of CA during liquid sound production is not expected, clinical experience suggests that individuals with CLP present with inadequate backing, elevation, and anteriorization of the tongue as well as tongue clicks during production of /r/ and /l/. Objectives Describe the occurrence of consonant error productions during liquid sounds for children with CLP; compare the occurrence between children operated with the Furlow and von Langenbeck techniques for palatoplasty; and compare the occurrence between children operated between 9-12 months and 15-18 months of age at primary palatoplasty. Material and Methods A sample of 397 children (237 males and 160 females) with operated unilateral CLP was studied. In this group, 163 underwent palatoplasty with the Furlow procedure and 234 with the modified von Langenbeck procedure. Age at palatoplasty was between 9 and 12 months for 189 children and between 15 and 18 months for 208 children. Data about production of /l/, /r/, /R/, /λ/ and consonant clusters /l/ and /r/ were obtained from speech pathology records. Speech pathologists registered the speech findings after an auditory-perceptual evaluation of the participants at the sixth year of age. Results The use of middorsum palatal place (MDP) of production was identified for 2% of the sample. Tongue anteriorization of the /l/ production was observed for 55% of the children. No significant difference was found related to surgical technique, but children operated earlier developed the use of the consonant cluster /r/ sooner than children operated later

  19. An alternative clinical approach to achieve greater anterior than posterior maxillary expansion in cleft lip and palate patients.

    PubMed

    Oliveira, Dauro Douglas; Bartolomeo, Flávia Uchôa Costa; Cardinal, Lucas; Figueiredo, Daniel Santos Fonseca; Palomo, Juan Martin; Andrade, Ildeu

    2014-11-01

    Cleft lip and palate patients commonly present maxillary constriction, particularly in the anterior region. The aim of this case report was to describe an alternative clinical approach that used a smaller Hyrax screw unconventionally positioned to achieve greater anterior than posterior expansion in patients with complete unilateral cleft lip and palate. The idea presented here is to take advantage of a reduced dimension screw to position it anteriorly. When only anterior expansion was needed (patient 1), the appliance was soldered to the first premolar bands and associated to a transpalatal arch cemented to the first molars. However, when overall expansion was required (patient 2), the screw was positioned anteriorly, but soldered to the first molar bands. Intercanine, premolar, and first molar widths were measured on dental casts with a digital caliper. Pre-expansion and postexpansion radiographs and tomographies were also evaluated. A significant anterior expansion and no intermolar width increase were registered in the first patient. Although patient 2 also presented a greater anterior than posterior expansion, a noteworthy expansion occurred at the molar region. The alternative approach to expand the maxilla in cleft patients reported here caused greater anterior than posterior expansion when the Mini-Hyrax was associated to a transpalatal arch, and its reduced dimension also minimized discomfort and facilitated hygiene.

  20. How various surgical protocols of the unilateral cleft lip and palate influence the facial growth and possible orthodontic problems? Which is the best timing of lip, palate and alveolus repair? literature review.

    PubMed

    Farronato, Giampietro; Kairyte, Laima; Giannini, Lucia; Galbiati, Guido; Maspero, Cinzia

    2014-01-01

    OBJECTIVES. Cleft lip palate is congenital growth disease with unknown etiology, probably linked to both genetically and external causes. The aim of this work consists in presenting the effects of these diseases on cranio facial growth and the surgical protocols described in literature. MATERIALS AND METHODS. The literature review articles conducted by Medline ranged from 1998 to 2011 have been selected. The key words of the research were "cleft lip palate", "cleft lip palate facial growth", "cleft lip palate surgery". The inclusion criteria were articles that analyzed surgical protocols and the growth of unilateral lip and palate clefts, the timing repair of lip, palate and alveolus. We excluded case reports, studies without control group in the sample and the other types of publication as thesis or conference presentation. 60 articles had the selection criteria of the research. RESULTS. The cleft lip and palate is one of the most common birth defects that needs long rehabilitation between birth and adulthood. Several authors have presented surgical protocols and timing. The effects of these diseases on cranio facial growth and the importance of the early intervention have been described. CONCLUSIONS. The review describes the main surgical protocols and treatment strategies of the unilateral lip and palate clefts. The review discusses how surgery effects the midfacial skeletal growth. Studies agree that the palate repair is the main cause of the maxilla growth disturbances. About the timing of palate repair in the unilateral clefts it can be concluded that most studies found no difference between one or two stages palate repair techniques for the midfacial growth. Also from the research, studies agree that delayed hard palate repair has more positive effects on maxillary growth than that of early hard palate repair. Nevertheless good results, delayed hard palate repair technique is abandoned by many hospital centres because of worse speech outcome. The best

  1. Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data.

    PubMed

    Dunkhase, Eva; Ludwig, Kerstin U; Knapp, Michael; Skibola, Christine F; Figueiredo, Jane C; Hosking, Fay Julie; Ellinghaus, Eva; Landi, Maria Teresa; Ma, Hongxia; Nakagawa, Hidewaki; Kim, Jong-Won; Han, Jiali; Yang, Ping; Böhmer, Anne C; Mattheisen, Manuel; Nöthen, Markus M; Mangold, Elisabeth

    2016-12-01

    Previous research suggests a genetic overlap between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and cancer. The aim of the present study was to identify common genetic risk loci for NSCL/P and cancer entities that have been reported to co-occur with orofacial clefting. This was achieved through the investigation of large genome-wide association study datasets. Investigations of 12 NSCL/P single nucleotide polymorphisms (SNPs) in 32 cancer datasets, and 204 cancer SNPs in two NSCL/P datasets, were performed. The SNPs rs13041247 (20q12) and rs6457327 (6p21.33) showed suggestive evidence for an association with both NSCL/P and a specific cancer entity. These loci harbor genes of biological relevance to oncogenesis (MAFB and OCT4, respectively). This study is the first to characterize possible pleiotropic risk loci for NSCL/P and cancer in a systematic manner. The data represent a starting point for future research by identifying a genetic link between NSCL/P and cancer. PMID:27630819

  2. Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.

    PubMed

    Wang, Yirui; Sun, Yimin; Huang, Yongqing; Pan, Yongchu; Jia, Zhonglin; Ma, Lijuan; Ma, Lan; Lan, Feifei; Zhou, Yuxi; Shi, Jiayu; Yang, Xiong; Zhang, Lei; Jiang, Hongbing; Jiang, Min; Yin, Aihua; Cheng, Jing; Wang, Lin; Yang, Yinxue; Shi, Bing

    2016-08-15

    Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects worldwide and is characterized by abnormalities of the orofacial structure. Syndromic CL/P is mainly caused by Mendelian disorders such as Van der Woude Syndrome (VWS). However, >70% of CL/P cases are nonsyndromic, characterized by isolated orofacial cleft without any known syndrome. The etiology of nonsyndromic CL/P (NSCL/P) remains elusive, but it has been suggested that causative genes of syndromic CL/P might also contribute to NSCL/P. As such, the VWS causative gene IRF6 has been extensively studied in NSCL/P. Recently, GRHL3 was identified as another VWS causative gene. Thus, it may be a novel candidate gene for NSCL/P. In the present study, we genotyped 10 tag SNPs covering GRHL3 and performed association analysis with NSCL/P in 504 cases and 455 healthy controls. Our preliminary results identified rs10903078, rs4638975, and a haplotype rs10903078-rs6659209 of GRHL3 that exceeded the significance threshold (p<0.05), though none survived Bonferroni correction for multiple comparisons. As the first study between GRHL3 and NSCL/P, the contribution of this gene to NSCL/P etiology should be interpreted with caution based on existing evidence. Further, the robustness of association between GRHL3 and NSCL/P should be further validated in expanded cohorts. PMID:27129939

  3. Speech intelligibility of children with unilateral cleft lip and palate (Dutch cleft) following a one-stage Wardill-Kilner palatoplasty, as judged by their parents.

    PubMed

    Van Lierde, K M; Luyten, A; Van Borsel, J; Baudonck, N; Debusschere, T; Vermeersch, H; Bonte, K

    2010-07-01

    This study determined the intelligibility (words, sentences and story telling) of 43 children (mean age 4.9 years) with unilateral cleft lip and palate who received a Wardill-Kilner palatoplasty, as judged by their parents and determined the influence of age and gender. A comparison with normative data for intelligibility of 163 Dutch speaking children was made. Each child and the parents completed The Dutch intelligibility test. Measures reported include group mean intelligibility percentages for words, sentences and story telling for children aged 2.5-5.0 and 5.0-7.6 years. A significant correlation between age of the children and intelligibility was measured. No significant gender-related differences were found. An interesting finding is the absence of significant difference in intelligibility percentage between the children with cleft palate and the normative data for story telling. The reported intelligibility percentages provide important prognostic reference information for surgeons who perform palatoplasty and speech pathologists who assess the speech production of children with cleft palate.

  4. Older adults' experiences of living with cleft lip and palate: a qualitative study exploring aging and appearance.

    PubMed

    Hamlet, Claire; Harcourt, Diana

    2015-03-01

    Objective : To explore older adults' experiences of living with cleft lip and/or palate (CL/P), focusing on aging and appearance. Design : An exploratory-descriptive qualitative study. Participants : Individual semi-structured interviews (five via telephone, one face-to-face) conducted with six adults between the ages of 57 and 82 years. Results : Interview transcripts were analyzed using interpretative phenomenological analysis, which resulted in five themes: cleft across the life span, keeping up appearances, being one of a kind, resilience and protection, and cleft in an ever-changing society. A CL/P had an ongoing impact on participants' lives, although its relevance shifted over time and some aspects of life (e.g., romantic relationships, decisions about having children of their own) were particularly affected. Participants seemed at ease living with CL/P as an older adult and considered it an important aspect of their identity, yet they still described feeling isolated at times and had little contact with other people with a cleft. They felt that health care could be more considerate to the needs of older people with a cleft, particularly around dentistry and information provision. Participants thought societal attitudes toward visible differences had changed over the years, but not necessarily for the better. A paradox was evident between reports of being noticed by others because of their cleft and simultaneously feeling invisible or ignored because of their age. Conclusions : These findings have implications for provision of care for older adults with a CL/P and for younger people with a CL/P who will be the older generation of the future.

  5. Prevalence of cleft lip and palate among four provinces in the West and North-West of Iran

    PubMed Central

    Jalilevand, Nahid; Jalaie, Shohreh

    2015-01-01

    Background: One of the most common anomalies in newborn infants is cleft lip and/or cleft palate (CL/P). In spite of several studies about the prevalence of this, no investigation evaluated this prevalence in the West and North-West of Iran. With due attention to different ethnic groups in this area, the aim of this study is to investigate whether the distribution of CL/P live births varies regionally in this area of Iran. Materials and Methods: A cross-sectional study was conducted using hospital registry records to identify all children born with CL/P. The hospitals with a maternity unit were selected in the capital cities of four provinces in the West and North-West of Iran, East Azarbaijan, Kurdestan, Gilan, and Markazi. The population under study included all infants born alive from 2008 to 2012. Results: During the study period, 107,317 live births were registered in the hospitals with a maternity unit of four cities, and 52 infants (0.485/1000 live births) were born with CL/P. The prevalence in Rasht, Arak, Sanandaj, and Tabriz cities was 0.557, 0.352, 0.503, and 0.559/1000 live births, respectively (P < 0.05), and in cleft types (P < 0.05). Of the 52 infants who were born with CL/P, 24 (46.15%) were girls and 28 (53.85%) were boys (P > 0.05), whereas the prevalence of CL/P based on sex was statistically different among the four provinces (P < 0.05). Conclusion: This study shows regional variations in the birth prevalence of clefts and various cleft types. The different effects of gender on the birth prevalence of CL/P from city-to-city may be explained environmentally and/or by genetic factors affecting the development of oral clefts. PMID:26600829

  6. Overview of orthodontic care for children with cleft lip and palate, 1915-2015.

    PubMed

    Vig, Katherine W L; Mercado, Ana M

    2015-10-01

    The purpose of this article is to review and discuss the advances in the management of children born with cleft lip and palate (CLP) as it has evolved over the past 100 years. This overview is based on articles published in the American Journal of Orthodontics, which frequently changed its name, over the past century. Additionally, other journals will be cited as craniofacial anomalies became recognized during the 20th century and the biologic basis became refined, with the new discipline of genetics replacing the term hereditary and its connotations of eugenics. The Human Genome Project, completed in 2003, has now provided an understanding of syndromic and nonsyndromic CLP that has led to advances in the diagnosis and treatment of CLP in the 21st century. These evolving concepts will be discussed in an overview of the types of procedures published from 1915 to 2015 and the major transition in the mid-20th century from multiple uncoordinated interventions from various specialists to a coordinated team approach in which the orthodontist has a specific role in the timing and sequencing of interdisciplinary treatment goals. Major technologic advancements in treatment modalities and the contemporary approach to the health-related quality of life of the patient and the caregiver have resulted in their participation in treatment options and decisions. The requirement of informed consent reflects the legal doctrine that now emphasizes the ethical imperative of greater respect for patient autonomy in the decision-making process. The orthodontist no longer makes decisions alone, but rather with the team and the patient or the caregiver.

  7. Full Spectrum of Postnatal Tooth Phenotypes in a Novel Irf6 Cleft Lip Model.

    PubMed

    Chu, E Y; Tamasas, B; Fong, H; Foster, B L; LaCourse, M R; Tran, A B; Martin, J F; Schutte, B C; Somerman, M J; Cox, T C

    2016-10-01

    Clefting of the lip, with or without palatal involvement (CLP), is associated with a higher incidence of developmental tooth abnormalities, including hypodontia and supernumerary teeth, aberrant crown and root morphologies, and enamel defects, although the underlying mechanistic link is poorly understood. As most CLP genes are expressed throughout the oral epithelium, the authors hypothesized that the expression of CLP genes may persist in the dental epithelium and thus, in addition to their earlier role in labiopalatine development, may play an important functional role in subsequent tooth patterning and amelogenesis. To address this, the authors generated a unique conditional knockout model involving the major CLP gene, Irf6, that overcomes the previously reported perinatal lethality to enable assessment of any posteruption dental phenotypes. A dental epithelium-specific Irf6 conditional knockout (Irf6-cKO) mouse was generated via a Pitx2-Cre driver line. Dental development was analyzed by microcomputed tomography, scanning electron microscopy, histology, immunohistochemistry, and quantitative polymerase chain reaction. Irf6-cKO mice displayed variable hypodontia, occasional supernumerary incisors and molars, as well as crown and root patterning anomalies, including peg-shaped first molars and taurodontic and C-shaped mandibular second molars. Enamel density was reduced in preeruption Irf6-cKO mice, and some shearing of enamel rods was noted in posteruption incisors. There was also rapid attrition of Irf6-cKO molars following eruption. Histologically, Irf6-cKO ameloblasts exhibited disturbances in adhesion and polarity, and delayed enamel formation was confirmed immunohistochemically. Altered structure of Hertwig's epithelial root sheath was also observed. These data support a role for IRF6 in tooth number, crown and root morphology and amelogenesis that is likely due to a functional role of Irf6 in organization and polarity of epithelial cell types. This data

  8. Overview of orthodontic care for children with cleft lip and palate, 1915-2015.

    PubMed

    Vig, Katherine W L; Mercado, Ana M

    2015-10-01

    The purpose of this article is to review and discuss the advances in the management of children born with cleft lip and palate (CLP) as it has evolved over the past 100 years. This overview is based on articles published in the American Journal of Orthodontics, which frequently changed its name, over the past century. Additionally, other journals will be cited as craniofacial anomalies became recognized during the 20th century and the biologic basis became refined, with the new discipline of genetics replacing the term hereditary and its connotations of eugenics. The Human Genome Project, completed in 2003, has now provided an understanding of syndromic and nonsyndromic CLP that has led to advances in the diagnosis and treatment of CLP in the 21st century. These evolving concepts will be discussed in an overview of the types of procedures published from 1915 to 2015 and the major transition in the mid-20th century from multiple uncoordinated interventions from various specialists to a coordinated team approach in which the orthodontist has a specific role in the timing and sequencing of interdisciplinary treatment goals. Major technologic advancements in treatment modalities and the contemporary approach to the health-related quality of life of the patient and the caregiver have resulted in their participation in treatment options and decisions. The requirement of informed consent reflects the legal doctrine that now emphasizes the ethical imperative of greater respect for patient autonomy in the decision-making process. The orthodontist no longer makes decisions alone, but rather with the team and the patient or the caregiver. PMID:26432310

  9. [The impact of cleft lip and palate on the parent-child relationships].

    PubMed

    Grollemund, B; Galliani, E; Soupre, V; Vazquez, M-P; Guedeney, A; Danion, A

    2010-09-01

    Cleft lips and palates (CLPs) are the most common human facial malformations. Depending on the ethnic and/or geographical origin of the studied populations, they can affect up to 1/500 newborns. The treatment of these patients is multidisciplinary because these malformations have not only aesthetic consequences but also functional consequences as the phonation, hearing, deglutition, mastication and ventilation are altered. These consequences can also be psychological since the building of the body image, the way others perceive it, is likely to be seriously altered. In Europe there are over 210 reference hospitals for children affected by CLP. Besides, about 190 different protocols were identified. So far no generic protocol was recognized by the medical community as a whole. This discrepancy can be explained by the fact that the aesthetic and functional result of a protocol cannot be accurately assessed before adulthood when the child's growth is complete. Patients presenting with CLP don't usually seem to present with any serious psychological or psychiatric pathology. Yet a close review of the related literature shows that disorders are actually described: behavioural troubles, anxiety, depression and esthetic dissatisfaction with one's face in children as well as in adults. The difficulty in interpreting these disorders lies in the various factors that are likely to impact this condition (family setting, importance and type of the cleft, surgery protocol, growth, social environment). A multidisciplinary examination of the face and a careful consideration of concerned families show the importance of the psychological context and the risks of a dis-harmonious structuring of the parents-child relationships on the child's development. The identification of the difficulties faced by these families, depending on the child's age, can be easily identified. Of course they can be identified at birth when the family first sees the child and later on at each stage of the

  10. [The impact of cleft lip and palate on the parent-child relationships].

    PubMed

    Grollemund, B; Galliani, E; Soupre, V; Vazquez, M-P; Guedeney, A; Danion, A

    2010-09-01

    Cleft lips and palates (CLPs) are the most common human facial malformations. Depending on the ethnic and/or geographical origin of the studied populations, they can affect up to 1/500 newborns. The treatment of these patients is multidisciplinary because these malformations have not only aesthetic consequences but also functional consequences as the phonation, hearing, deglutition, mastication and ventilation are altered. These consequences can also be psychological since the building of the body image, the way others perceive it, is likely to be seriously altered. In Europe there are over 210 reference hospitals for children affected by CLP. Besides, about 190 different protocols were identified. So far no generic protocol was recognized by the medical community as a whole. This discrepancy can be explained by the fact that the aesthetic and functional result of a protocol cannot be accurately assessed before adulthood when the child's growth is complete. Patients presenting with CLP don't usually seem to present with any serious psychological or psychiatric pathology. Yet a close review of the related literature shows that disorders are actually described: behavioural troubles, anxiety, depression and esthetic dissatisfaction with one's face in children as well as in adults. The difficulty in interpreting these disorders lies in the various factors that are likely to impact this condition (family setting, importance and type of the cleft, surgery protocol, growth, social environment). A multidisciplinary examination of the face and a careful consideration of concerned families show the importance of the psychological context and the risks of a dis-harmonious structuring of the parents-child relationships on the child's development. The identification of the difficulties faced by these families, depending on the child's age, can be easily identified. Of course they can be identified at birth when the family first sees the child and later on at each stage of the

  11. Cleft lip and palate in Finland in 1948-75: correlations to infections, seasonal and yearly variations.

    PubMed

    Rintala, A; Pönkä, A; Sarna, S; Stegars, T

    1983-01-01

    Comparison of the patient records of the Finnish Red Cross National Cleft Center and the Central Register of Congenital Malformations showed a statistically significant yearly fluctuation as well as an increasing trend in the incidence of both cleft lip (and palate) and isolated cleft palate during the period 1948-1975. Almost significant difference was found in the monthly incidence of CL(P) with the peak in children born in April, while no such difference could be noticed in CP or both groups combined. The rapid increase and similarity of the incidence curves of both CL(P) and CP is suggestive of the action of simultaneous and similar exogenous agents in the pathogenesis of both types. In patients with CL(P) the etiological factor was considered to have been active 35 weeks and in CP 31 weeks before delivery. The monthly number of clefts was compared to the number of serologically verified infections (influenza A, respiratory syncytical, mumps, measles, rubeola, parainfluenza, adenoviruses as well as Mycoplasma pneumoniae) in the years 1971-75. No statistically significant correlation was found in this respect. PMID:6673086

  12. Orthodontic Considerations for Maxillary Distraction Osteogenesis in Growing Patients with Cleft Lip and Palate Using Internal Distractors

    PubMed Central

    Silveira, Adriana da; Moura, Pollyana Marques de; Harshbarger, Raymond J.

    2014-01-01

    The orthodontist plays a key role in the selection of the optimal treatment for patients followed by a craniofacial team. For patients with cleft lip and palate, the need for multidisciplinary treatment planning and sequentially staged treatment is essential for successful patient outcomes. The technique of Le Fort I distraction osteogenesis of the maxilla using an internal device is potentially a predictable, stable, and convenient option for the correction of severe maxillary hypoplasia. It is an alternative option for treatment of maxillary hypoplasia in growing patients. In this article, the authors describe the orthodontist's approach to the management of cleft patients with severe maxillary deficiency with the use of an internal distraction device. The information is presented with a focus on the clinical aspects of treatment, using case illustrations and appropriate literature. PMID:25383056

  13. 2012 American Board of Pediatric Dentistry College of Diplomates annual meeting: the role of pediatric dentists in the presurgical treatment of infants with cleft lip/cleft palate utilizing nasoalveolar molding.

    PubMed

    Ahmed, Mohammad M; Brecht, Lawrence E; Cutting, Court B; Grayson, Barry H

    2012-01-01

    The pediatric dentist plays a crucial role in the treatment and management of infants born with cleft deformities of the lip, alveolus, and palate. At New York University Langone Medical Center in New York City, 70% of infants with cleft lip/cleft palate (CLCP) are detected on prenatal ultrasound analysis. Thus, the role of the pediatric dentist can start as early as prenatal counseling. Nasoalveolar molding (NAM) is delivered during the first 3 to 5 months of life. During this stage of treatment, the pediatric dentist establishes the foundation of the “cleft dental” home and initiates the first stage of anticipatory guidance. Consequently, parents are educated and motivated to initiate oral hygiene care upon eruption of the first primary teeth. The purpose of this paper was to describe the role of the pediatric dentist in performing nasoalveolar molding and also describe its indications, appliance design, fabrication, biomechanics, complications, and patient management.

  14. The 19-bp deletion polymorphism of dihydrofolate reductase (DHFR) and nonsyndromic cleft lip with or without cleft palate: evidence for a protective role

    PubMed Central

    RAFIGHDOOST, Firoozeh; RAFIGHDOOST, Amir; RAFIGHDOOST, Houshang; RIGI-LADEZ, Mohammad-Ayoob; HASHEMI, Mohammad; ESKANDARI-NASAB, Ebrahim

    2015-01-01

    Objective Nonsyndromic cleft lip with or without cleft palate (NS-CL/P) are among the most common congenital birth defects worldwide. Several lines of evidence point to the involvement of folate, as well as folate metabolizing enzymes in risk reduction of orofacial clefts. Dihydrofolate reductase (DHFR) enzyme participates in the metabolic cycle of folate and has a crucial role in DNA synthesis, a fundamental feature of gestation and development. A functional polymorphic 19-bp deletion within intron-1 of DHFR has been associated with the risk of common congenital malformations. The present study aimed to evaluate the possible association between DHFR 19-bp deletion polymorphism and susceptibility to NS-CL/P in an Iranian population. Material and Methods The current study recruited 100 NS-CL/P patients and 100 healthy controls. DHFR 19-bp deletion was determined using an allele specific-PCR method. Results We observed the DHFR 19-bp homozygous deletion genotype (D/D) vs. homozygous wild genotype (WW) was more frequent in controls than in NS-CL/P patients (25% vs. 13%), being associated with a reduced risk of NS-CL/P in both codominant (OR=0.33, P=0.027) and recessive (OR=0.45, P=0.046) tested inheritance models. We also stratified the cleft patients and reanalyzed the data. The association trend for CL+CL/P group compared to the controls revealed that the DD genotype in both codominant (OR=0.30, P=0.032) and recessive models (OR=0.35, P=0.031) was associated with a reduced risk of CL+CL/P. Conclusions Our results for the first time suggested the DHFR 19-bp D/D genotype may confer a reduced risk of NS-CL/P and might act as a protective factor against NS-CL/P in the Iranian subjects. PMID:26221921

  15. Objective assessment of internal nasal dimensions and speech resonance in individuals with repaired unilateral cleft lip and palate after rhinoseptoplasty.

    PubMed

    Trindade, Inge Elly Kiemle; Bertier, Carlos Eduardo; Sampaio-Teixeira, Ana Claudia Martins

    2009-03-01

    The objective of the current study was to analyze the effects of rhinoseptoplasty on internal nasal dimensions and speech resonance of individuals with unilateral cleft lip and palate, estimated by acoustic rhinometry and nasometry, respectively. Twenty-one individuals (aged 15-46 years) with previously repaired unilateral cleft lip and palate were analyzed before (PRE), and 6 to 9 (POST1) and 12 to 18 months (POST2) after surgery. Acoustic rhinometry was used to measure the cross-sectional areas (CSAs) of segments corresponding to the nasal valve (CSA1), anterior portion (CSA2), and posterior portion (CSA3) of the lower turbinate, and the volumes at the nasal valve (V1) and turbinate (V2) regions at cleft and noncleft sides, before and after nasal decongestion with a topical vasoconstrictor. Nasometry was used to evaluate speech nasalance during the reading of a set of sentences containing nasal sounds and other devoid of nasal sounds. At the cleft side, before nasal decongestion, there was a significant increase (P < 0.05) in mean CSA1 and V1 values at POST1 and POST2 compared with PRE. After decongestion, increased values were also observed for CSA2 and V2 at POST2. No significant changes were observed at the noncleft side. Mean nasalance values at PRE, POST1, and POST2 were not different from each other in both oral and nasal sentences. The measurement of CSAs and volumes by acoustic rhinometry revealed that rhinoseptoplasty provided, in most cases analyzed, a significant increase in nasal patency, without concomitant changes in speech resonance, as estimated by nasalance assessment.

  16. Cleft lip and palate, sensorineural deafness, and sacral lipoma in two brothers: a possible example of the disorganisation mutant.

    PubMed Central

    Lowry, R B; Yong, S L

    1991-01-01

    We report two brothers of Chinese origin who have an apparently unique syndrome of cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. Additional findings which were not common to both were aberrant digital appendages on the heel and thigh of one boy and an anterior sacral meningocele and dislocated hip in the other. Intelligence is normal in both. Both boys suffer from functional constipation but biopsy studies showed no evidence of Hirschsprung's disease. The parents, who are normal, are not related. Inheritance is probably autosomal or X linked recessive. A possible link with the disorganisation mouse mutant is discussed. Images PMID:2002486

  17. Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

    PubMed Central

    Gamba, Bruno F.; Rosenberg, Carla; Costa, Silvia; Richieri-Costa, Antonio; Ribeiro-Bicudo, Lucilene A.

    2015-01-01

    The chromosome interval 10p15.3p14 harbors about a dozen genes. This region has been implicated in a few well-known human phenotypes, namely HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) and DGS2 (DiGeorge syndrome 2), but a number of variable phenotypes have also been reported. Cleft lip/palate seems to be a very unusual finding within the clinical spectrum of patients with this deletion. Here, we report a male child born with short stature, cleft lip/palate, and feeding problems who was found to have a 5.6-Mb deletion at 10p15.3p14. PMID:25852446

  18. An Analysis of the Frame-Content Theory in Babble of Nine-Month-Old Babies with Cleft Lip and Palate

    PubMed Central

    Stout, Gwendolyn; Hardin-Jones, Mary; Chapman, Kathy L.

    2011-01-01

    The aim of this study was to examine the consonant-vowel co-occurrence patterns predicted by the Frame-Content theory in 16 nine-month-old babies with unrepaired cleft palate (± cleft lip) and 16 age-matched non-cleft babies. Babble from these babies was phonetically transcribed and grouped according to the intrasyllabic predictions of the theory (labial-central, alveolar-front, and velar-back). Both groups demonstrated the three consonant-vowel co-occurrence patterns predicted by the Frame-Content theory. Other patterns not predicted by the Frame-Content theory emerged as strong patterns as well. PMID:21889772

  19. Adults' Narratives of Growing up With a Cleft Lip and/or Palate: Factors Associated With Psychological Adjustment.

    PubMed

    Stock, Nicola Marie; Feragen, Kristin Billaud; Rumsey, Nichola

    2016-03-01

    Background Growing up with a cleft lip and/or palate presents a number of challenges for those affected and their families. Understanding why some individuals cope well while others struggle is key to psychological research in this field. A better appreciation of the factors and processes that contribute to psychological adjustment to cleft lip and/or palate (CL/P) from the patient perspective would be of value to both researchers and clinicians. Design Qualitative data elicited from individual interviews with 52 adults born with CL/P. Results Inductive thematic analysis identified three main themes: "background" factors (age, gender, sexual orientation, culture, additional conditions, socioeconomic status, and adoption), "external" factors (treatment autonomy, familial coping and support, salience, public understanding, psychological input, and peer support), and "internal" psychological factors (perceptions of difference, noticeability and teasing, social confidence, internalization of beauty ideals, valence, expectations of treatment, responding to challenges, social comparisons, acceptance, faith, dispositional style, and recognition of strengths and positive growth). Conclusions The number and breadth of factors identified in this study are testament to the importance of psychology in the field of CL/P and may offer guidance in relation to developing and assessing the value of psychological interventions. There is a clear role for psychologists in tackling appearance-related concerns, designing materials, supporting patient decision making, and improving social interaction, as well as providing specialist psychological support. The findings illustrate the potential degree of individual variation in perspectives and offer insight into the conflicting results found within current literature.

  20. Diagnostic/genetic sreening - approach for genetic diagnoses and prevention of cleft lip and/or palate.

    PubMed

    Natsume, Nagato; Kato, Tomoki; Hayakawa, Toko; Imura, Hideto

    2013-01-01

    The treatment, research and volunteer work for cleft lip and/or palate (CL/P) has been led for over 30 years by our team. Within this period, more than 4,000 cases of CL/P were treated and at the same time, and approximately 400 papers were published as the first or partner researcher in Nature Genetics, New England Journal of Medicine and others. In addition, with $20 million that was donated from companies and laypeople, and the grant from the Japanese government, CL/P centres in many countries and in Japan, the oral and craniofacial congenital anomaly gene bank in our CL/P centre was established by our leadership. In the bank there are genes from approximately more than 8,000 cases. The genes were mapped with Professor Jeffery Murray of Iowa University in the United States, the findings about genetic syndromes such as Van der Woude Syndrome and basal cell nevus syndrome were applied in clinical settings. The genetic counselling section that specialises in the oral and maxillofacial field was established by our effort for the first time in Japan. In this review, our clinical experience and approach for genetic diagnoses and prevention of cleft lip and/or palate will be discussed.

  1. A psychological analysis of the Korean mothers of cleft lip and palate patients: screening for psychological counseling and neuropsychiatric treatment.

    PubMed

    Jeong, Jae Hoon; Kim, Bung-Nyun; Choi, Tae Hyun; Kim, Sukwha

    2013-09-01

    The purpose of this study is to examine the psychological states and the stress levels of the Korean mothers who have cleft lip and palate child patients. The authors explored whether psychological assessments of the mothers with child patients could play a role in screening for psychiatric counseling. Thirty-six mothers of child patients admitted to receive cleft lip and palate surgery at Seoul National University Children's Hospital were recruited as subjects of this study. The 3 questionnaires included in the study were the Beck Depression Inventory, Beck Anxiety Inventory, and Parenting Stress Inventory. We compared these results with those of general population according to the domestic studies. The statistical significances of these results were analyzed using Mann-Whitney method. The average score from the Beck Depression Inventory was 8.89 with standard deviation of 6.08. The average score from the Beck Anxiety Inventory was 9.69 with standard deviation of 6.89. In the Parenting Stress Inventory, the average score was 55.06 and standard deviation was 16.45. However, there were no statistically significant differences between mothers whose children have underwent surgery versus no surgery and mothers whose children had visible versus invisible anomalies. The reliable psychological analysis of depression, anxiety, and stress levels of the mothers of child patients allowed the authors to assess the psychological states of the mothers of child patients. Such assessment can play a vital role in the screening of candidates who need psychiatric treatment or consultation.

  2. Comparison of videonasoendoscopy and auditory-perceptual evaluation of speech in individuals with cleft lip/palate

    PubMed Central

    Paniagua, Lauren Medeiros; Signorini, Alana Verza; Costa, Sady Selaimen da; Collares, Marcus Vinicius Martins; Dornelles, Sílvia

    2013-01-01

    Summary Introduction: The velopharyngeal sphincter (VPS) is a muscle belt located between the oropharynx and the nasopharynx. Investigations of velopharyngeal function should include an auditory-perceptual evaluation and at least 1 instrument-based evaluation such as videonasoendoscopy. Aim: To compare the findings of auditory-perceptual evaluation (hypernasality) and videonasoendoscopy (gap size) in individuals with cleft lip/palate. Method: This was a retrospective, cross-sectional study assessing 49 subjects, of both sexes, with cleft lip/palate followed up at the Otorhinolaryngology Service and the Speech Therapy outpatient clinic of Hospital de Clínicas de Porto Alegre (HCPA). The results from the auditory-perceptual evaluation and the videonasoendoscopy test were compared with respect to the VPS gap size. Results: Subjects with moderate/severe hypernasality had more severe velopharyngeal closure impairment than those with a less severe condition. The interaction between hypernasality severity and the presence of other speech disorders (p = 0.035), whether compensatory and/or obligatory, increased the likelihood of having a moderate-to-large gap in the velopharyngeal closure. Conclusions: We observed an association between the findings of these 2 evaluation methods. PMID:25992023

  3. A Retrospective Study of Cleft lip and palate Patients' Satisfaction after Maxillary Distraction or Traditional Advancement of the Maxilla

    PubMed Central

    Nørholt, Sven Erik; Küseler, Annelise; Jensen, John; Pedersen, Thomas Klit

    2012-01-01

    ABSTRACT Objectives To compare cleft lip and palate patients' satisfaction with aesthetics and functional parameters after conventional advancement of the maxilla or by the use of distraction osteogenesis. Material and methods Case series observational study. Group of distraction osteogenesis (DO) consisted of 15 patients treated with distraction osteogenesis while group conventional (CONV) included 10 patients treated with traditional advancement of the maxilla. Patients were asked to fill out a questionnaire about their subjective evaluation of satisfaction with facial aesthetics and functional parameters on a continuous visual analog-scale (VAS) when the treatment was finished. Results The total response rate was 76%. Preoperatively the two groups did not differ significantly according to group characteristics. At follow-up both groups were satisfied with aesthetics and functional parameters. The DO group was less satisfied with the duration of the treatment than the CONV group. There were no statistically significant differences among the groups regarding functional parameters or facial aesthetics. Conclusions Cleft lip and palate patients experienced a high level of satisfaction with functional parameters and aesthetics as a result of surgical maxillary advancement. The patients treated with distraction osteogenesis were less satisfied with the duration of the treatment. Further studies are needed. PMID:24422010

  4. Assessment of the Airway Characteristics in Children with Cleft Lip and Palate using Cone Beam Computed Tomography

    PubMed Central

    Marwah, Nikhil

    2016-01-01

    ABSTRACT Objective: The aim of our study is to use cone beam computed tomography (CBCT) to assess the dimensional changes in the nasopharyngeal soft-tissue characteristics in children of Indian origin with repaired cleft lip and palate (CLP) and to compare the results with patients with ideal occlusion. Materials and methods: A sample of 20 children (10 girls, 10 boys) with repaired CLP was selected. Cone beam computed tomography scans were taken to measure the nasopharyngeal airway changes in terms of linear measurements and sagittal cross-sectional areas. Error analysis was performed to prevent systematic or random errors. Independent means t-tests and Pearson correlation analysis were used to evaluate sex differences and the correlations among the variables. Results: Nasopharyngeal soft-tissue characteristics were different in the control and the study groups. Subjects with repaired CLP had lesser lower aerial width, lower adenoidal width and lower airway width. The upper airway width was also significantly lesser. The retropalatal and the total airway area were significantly greater in the control group. Conclusion: The narrow pharyngeal airway in patients with CLP might result in functional impairment of breathing in patients. Further investigations are necessary to clarify the relationship between pharyngeal structure and airway function in patients with CLP. How to cite this article: Agarwal A, Marwah N. Assessment of the Airway Characteristics in Children with Cleft Lip and Palate using Cone Beam Computed Tomography. Int J Clin Pediatr Dent 2016;9(1):5-9. PMID:27274147

  5. Cleft Palate; A Multidiscipline Approach.

    ERIC Educational Resources Information Center

    Stark, Richard B., Ed.

    Nineteen articles present a multidisciplinary approach to the management of facial clefts. The following subjects are discussed: the history of cleft lip and cleft palate surgery; cogenital defects; classification; the operation of a cleft palate clinic; physical examination of newborns with cleft lip and/or palate; nursing care; anesthesia;…

  6. Evidence for an association between nonsyndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4

    SciTech Connect

    Mitchell, L.E.; Healey, S.C.; Chenevix-Trench, G. |

    1995-11-01

    Recent studies suggest that the familial aggregation of nonsyndromic cleft lip with or without cleft palate (CL{+-}P) is likely to be attributable to the effects of several susceptibility loci, acting in a multiplicative fashion. Two potential CL{+-}P susceptibility loci (CSL), transforming growth factor alpha (TGFA) and retinoic acid receptor (RARA), have been identified through association studies. In addition, recent evidence of linkage between CL{+-}P and two markers (D4S175 and D4S192) in the region 4q25-4q31.3 raised the possibility that a CSL, with a larger effect than either TGFA or RARA, may reside within this region of the human genome. The present analyses were undertaken to determine whether D4S175 or D4S192 is significantly associated with CL{+-}P in a sample of unrelated patients that have previously provided evidence of associations between CL{+-}P and both TGFA and RARA. The results of these analyses provide further, tentative, evidence for the presence of a CSL locus on the long arm of chromosome 4 and help to refine the location of this locus in the region of D4S175 and D4S192. 28 refs., 4 tabs.

  7. Effects of early and late cheiloplasty on anterior part of maxillary dental arch development in infants with unilateral complete cleft lip and palate

    PubMed Central

    2016-01-01

    Objectives. The objective of this study is to compare the impact of early and late reconstruction of complete unilateral cleft lip and palate on the growth and development of the front of the dentoalveolar arch. Methods. This study was carried out in the years 2012–2015 at the Clinic of Plastic, Reconstructive and Aesthetic Surgery in Banska Bystrica. Infants with unilateral complete cleft lip and palate were divided into 2 groups according to the timing of lip reconstruction. Group A consisted of infants with early lip reconstruction–realised in the first 14 days of life. Group B consisted of infants with later lip reconstruction–realised in the third month of age. Maxillary dental casts were obtained for each child in four periods–in the first 14 days of life, in the third month, in the sixth month and in the age of one year. These were followed by the identification, measurement and evaluation of anthropometric parameters. Results. Significant differences were occurred after the reconstruction of the lips in linear and angle measurements between infants in the A and B groups. Conclusion. The early surgical reconstruction of the lips in the first 14 days of life has a positive effect on the growth and development of the anterior segment of the dentoalveolar arch. Early lip reconstruction forms a continuous pressure on the frontal segment, resulting in the earlier remedy of anatomical properties and creates appropriate conditions for the best development of this area. PMID:26893957

  8. Gender Issues in Parenting Cleft Lip and Palate Babies in Southern Nigeria: A Study of the University of Benin Teaching Hospital

    ERIC Educational Resources Information Center

    Umweni, A. A.; Okeigbemen, S. A.

    2009-01-01

    There is a scarcity of studies on gender issues in parenting cleft lip and palate (CLAP) babies. The birth of a CLAP child presents an immediate visible handicap that is distressing to parents. The aims and objectives of this study are to determine the influence of gender on the attitude of parents on the birth of CLAP babies, to articulate the…

  9. Current Training and Continuing Education Needs of Preschool and School-Based Speech-Language Pathologists regarding Children with Cleft Lip/Palate

    ERIC Educational Resources Information Center

    Bedwinek, Anne P.; Kummer, Ann W.; Rice, Gale B.; Grames, Lynn Marty

    2010-01-01

    Purpose: The purpose of this study was to obtain information regarding the education and experience of preschool and school-based speech-language pathologists (SLPs) regarding the assessment and treatment of children born with cleft lip and/or palate and to determine their continuing education needs in this area. Method: A 16-item mixed-methods…

  10. Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.

    PubMed

    Enriquez, Annabelle; Krivanek, Michael; Flöttmann, Ricarda; Peters, Hartmut; Wilson, Meredith

    2016-09-01

    We describe two sibling fetuses with urogenital abnormalities detected by prenatal ultrasound, in which post-delivery examination showed split hand and foot malformation, and bilateral cleft lip and palate. These findings are consistent with ectrodactyly-ectodermal dysplasia-cleft lip with or without cleft palate syndrome (EEC). Both fetuses were found to have the same missense mutation in TP63 (c.1051G > A; p.D351N). Parental clinical examinations and lymphocyte DNA analyses were normal. This report illustrates the potential severity of urogenital defects in TP63-related disorders, which may be detectable with fetal ultrasonography. It highlights the need to counsel for the possibility of germline mosaicism in TP63-associated disorders. © 2016 Wiley Periodicals, Inc. PMID:27351625

  11. Rehabilitation of an edentulous cleft lip and palate patient with a soft palate defect using a bar-retained, implant-supported speech-aid prosthesis: a clinical report.

    PubMed

    Hakan Tuna, S; Pekkan, Gurel; Buyukgural, Bulent

    2009-01-01

    Prosthetic rehabilitation of an edentulous cleft lip and palate patient with a combined hard and soft palate defect is a great challenge, due to the lack of retention of the obturator prosthesis as a result of its weight and the inability to obtain a border seal. Dental implants improve the retention, stability, and occlusal function of prostheses when used in carefully selected cleft lip and palate cases. This clinical report presents an edentulous unilateral cleft lip and palate patient who has hard and soft palate defects and an atrophied maxilla, treated with an implant-supported speech-aid prosthesis. PMID:19115799

  12. The Goslon yardstick applied to a consecutive series of patients with unilateral clefts of the lip and palate.

    PubMed

    Hathorn, I; Roberts-Harry, D; Mars, M

    1996-11-01

    First described in 1987, the Goslon yardstick has been used since as a reliable and reproducible means of measuring dental arch relationships and, therefore, the quality of facial growth. The dental study models of a group of 32 consecutively treated patients with unilateral clefts of lip and palate, from the Frenchay Hospital, Bristol, U.K., were analyzed using the Goslon yardstick. More than 50% of the sample were in the unfavorable Goslon groups IV and V. Because of these results, we at Frenchay Hospital now base our related surgical procedures on the early vomerine closure of the anterior hard palate without nasal or alveolar repair at 3 months, followed by primary hard and soft palate closure at 6 months.

  13. Speech results of the Zürich approach in the treatment of unilateral cleft lip and palate.

    PubMed

    Van Demark, D R; Gnoinski, W; Hotz, M M; Perko, M; Nussbaumer, H

    1989-04-01

    The purpose of this study was to describe perceptually the speech articulation, voice quality, and velopharyngeal competency of subjects with complete unilateral cleft lip and palate treated by the Zürich approach. The mean age of the 37 subjects was 10.5 years. Although only one subject had had secondary palatal management, no subject was rated as exhibiting a severe articulation or nasality problem. Subjects were rated as exhibiting adequate to marginal velopharyngeal competency 94.5 percent of the time, and the incidence of compensatory articulation errors was low. In comparison with other studies that evaluated the two-stage palatal repair, the Zürich approach appears to give the better results. The type of initial soft palate repair is probably the significant factor which contributes to the better speech of these subjects.

  14. Dermatoglyphic fingerprint heterogeneity among individuals with nonsyndromic cleft lip with or without cleft palate and their unaffected relatives in China and the Philippines.

    PubMed

    Scott, Nicole M; Weinberg, Seth M; Neiswanger, Katherine; Brandon, Carla A; Daack-Hirsch, Sandra; Murray, Jeffrey C; Liu, You-E; Marazita, Mary L

    2005-04-01

    Cleft lip with or without cleft palate (CL/P) is a common birth defect (birth prevalence ranging from 1/500 to 1/2,000) with a complex etiology. Traits potentially related to CL/P, such as dermatoglyphics, may reflect the genetic and epidemiologic heterogeneity observed in CL/P. Such phenotypic heterogeneity in dermatoglyphic patterns may account for some of the variability in previously reported associations of dermatoglyphics and CL/P. To test this hypothesis, we took dermatoglyphic prints from individuals with nonsyndromic CL/P (n = 460) and their unaffected relatives (n = 254) from the Philippines and China. For both samples three raters designated the patterns as arch, ulnar loop, radial loop, whorl, or "other." Chi-square analysis and standard ANOVA were used to investigate heterogeneity between Filipino and Chinese study subjects. The significant associations between particular pattern types and CL/P were not the same in both populations, demonstrating population-specific association of CL/P and dermatoglyphic pattern types. The ANOVA of pattern type included both CL/P cases and their relatives, with affection status, sex, and population group as variables. For each pattern type except arches, population was significant (p < 0.0001); for radial loops, affection status was additionally significant (p < 0.0001). When only CL/P cases were considered, population was again significant for the ulnar loop (p < 0.0001), whorl (p < 0.0001), and "other" (p = 0.0002) patterns. The ANOVAs demonstrate between-population heterogeneity in dermatoglyphic pattern types. These results support our hypothesis that population-specific associations and population heterogeneity in dermatoglyphic patterns exist for CL/P cases and their relatives.

  15. Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate

    PubMed Central

    Mitra, Amit K.; Stessman, Holly A. F.; Schaefer, Robert J.; Wang, Wen; Myers, Chad L.; Van Ness, Brian G.; Beiraghi, Soraya

    2016-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital birth defects. NSCL/P is a complex multifactorial disease caused by interactions between multiple environmental and genetic factors. However, the causal single nucleotide polymorphism (SNP) signature profile underlying the risk of familial NSCL/P still remains unknown. We previously reported a 5.7-Mb genomic region on chromosome 18q21.1 locus that potentially contributes to autosomal dominant, low-penetrance inheritance of NSCL/P. In the current study, we performed exome sequencing on 12 familial genomes (six affected individuals, two obligate carriers, and four seemingly unaffected individuals) of a six-generation family to identify candidate SNPs associated with NSCL/P risk. Subsequently, targeted bidirectional DNA re-sequencing of polymerase chain reaction (PCR)-amplified high-risk regions of MYO5B gene and sequenom iPLEX genotpying of 29 candidate SNPs were performed on a larger set of 33 members of this NSCL/P family (10 affected + 4 obligate carriers + 19 unaffected relatives) to find SNPs significantly associated with NSCL/P trait. SNP vs. NSCL/P association analysis showed the MYO5B SNP rs183559995 GA genotype had an odds ratio of 18.09 (95% Confidence Interval = 1.86–176.34; gender-adjusted P = 0.0019) compared to the reference GG genotype. Additionally, the following SNPs were also found significantly associated with NSCL/P risk: rs1450425 (LOXHD1), rs6507992 (SKA1), rs78950893 (SMAD7), rs8097060, rs17713847 (SCARNA17), rs6507872 (CTIF), rs8091995 (CTIF), and rs17715416 (MYO5B). We could thus identify mutations in several genes as key candidate SNPs associated with the risk of NSCL/P in this large multi-generation family. PMID:27242896

  16. Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate.

    PubMed

    Mitra, Amit K; Stessman, Holly A F; Schaefer, Robert J; Wang, Wen; Myers, Chad L; Van Ness, Brian G; Beiraghi, Soraya

    2016-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital birth defects. NSCL/P is a complex multifactorial disease caused by interactions between multiple environmental and genetic factors. However, the causal single nucleotide polymorphism (SNP) signature profile underlying the risk of familial NSCL/P still remains unknown. We previously reported a 5.7-Mb genomic region on chromosome 18q21.1 locus that potentially contributes to autosomal dominant, low-penetrance inheritance of NSCL/P. In the current study, we performed exome sequencing on 12 familial genomes (six affected individuals, two obligate carriers, and four seemingly unaffected individuals) of a six-generation family to identify candidate SNPs associated with NSCL/P risk. Subsequently, targeted bidirectional DNA re-sequencing of polymerase chain reaction (PCR)-amplified high-risk regions of MYO5B gene and sequenom iPLEX genotpying of 29 candidate SNPs were performed on a larger set of 33 members of this NSCL/P family (10 affected + 4 obligate carriers + 19 unaffected relatives) to find SNPs significantly associated with NSCL/P trait. SNP vs. NSCL/P association analysis showed the MYO5B SNP rs183559995 GA genotype had an odds ratio of 18.09 (95% Confidence Interval = 1.86-176.34; gender-adjusted P = 0.0019) compared to the reference GG genotype. Additionally, the following SNPs were also found significantly associated with NSCL/P risk: rs1450425 (LOXHD1), rs6507992 (SKA1), rs78950893 (SMAD7), rs8097060, rs17713847 (SCARNA17), rs6507872 (CTIF), rs8091995 (CTIF), and rs17715416 (MYO5B). We could thus identify mutations in several genes as key candidate SNPs associated with the risk of NSCL/P in this large multi-generation family. PMID:27242896

  17. Adults' Narratives of Growing up With a Cleft Lip and/or Palate: Factors Associated With Psychological Adjustment.

    PubMed

    Stock, Nicola Marie; Feragen, Kristin Billaud; Rumsey, Nichola

    2016-03-01

    Background Growing up with a cleft lip and/or palate presents a number of challenges for those affected and their families. Understanding why some individuals cope well while others struggle is key to psychological research in this field. A better appreciation of the factors and processes that contribute to psychological adjustment to cleft lip and/or palate (CL/P) from the patient perspective would be of value to both researchers and clinicians. Design Qualitative data elicited from individual interviews with 52 adults born with CL/P. Results Inductive thematic analysis identified three main themes: "background" factors (age, gender, sexual orientation, culture, additional conditions, socioeconomic status, and adoption), "external" factors (treatment autonomy, familial coping and support, salience, public understanding, psychological input, and peer support), and "internal" psychological factors (perceptions of difference, noticeability and teasing, social confidence, internalization of beauty ideals, valence, expectations of treatment, responding to challenges, social comparisons, acceptance, faith, dispositional style, and recognition of strengths and positive growth). Conclusions The number and breadth of factors identified in this study are testament to the importance of psychology in the field of CL/P and may offer guidance in relation to developing and assessing the value of psychological interventions. There is a clear role for psychologists in tackling appearance-related concerns, designing materials, supporting patient decision making, and improving social interaction, as well as providing specialist psychological support. The findings illustrate the potential degree of individual variation in perspectives and offer insight into the conflicting results found within current literature. PMID:25650758

  18. Self-Image Perception of 171 Children and Adolescents With Cleft Lip and Palate From 22 Countries

    PubMed Central

    Abd-Elsayed, Alaa A.; Delgado, Sergio V.; Livingstone, Morgan

    2013-01-01

    Background Cleft lip (CL) and cleft palate (CP) are among the most common congenital deformities of the head and neck. They are associated with many problems, physical and psychological. We describe 171 children and adolescents with CL/CP from 22 countries who were asked to draw their faces in a self-image perception drawing 2 hours before surgery to repair their deformities. Methods The aim of the study was to explore whether children and adolescents with CL and CP perceived themselves as deformed when given the opportunity to draw their faces before surgery to repair their deformities. Children were asked to lie down on a large piece of paper to have their body outline traced. Subsequently, the children were asked to draw their faces within the outline. Results All of the children included in this study drew their faces with normal mouths. Conclusion None of the 171 patients with CL/CP drew their deformity when asked to draw their faces; the reasons are not clear. The children may have wanted to compensate for their disability with the constructive use of fantasy as they anticipated the surgery to repair their CL/CP. An additional hypothesis is that the children felt the need to draw an image that they knew represented their parents' desires. PMID:23789006

  19. Spectral analysis of word-initial alveolar and velar plosives produced by Iranian children with cleft lip and palate.

    PubMed

    Eshghi, Marziye; Zajac, David J; Bijankhan, Mahmood; Shirazi, Mohsen

    2013-03-01

    Spectral moment analysis (SMA) was used to describe voiceless alveolar and velar stop-plosive production in Persian-speaking children with repaired cleft lip and palate (CLP). Participants included 11 children with bilateral CLP who were undergoing maxillary expansion and 20 children without any type of orofacial clefts. Four of the children with CLP also exhibited backed (palatal) placement for alveolar stops. All children produced consonant-vowel-consonant nonsense words that targeted the plosives /t/ and /k/. SMA revealed that children with CLP had significantly reduced first spectral moment of /t/ and /t/-/k/ difference. Children with CLP who produced palatal stops for alveolar targets also had lower but non-significant first spectral moments for /t/ as compared with children with CLP who did not produce palatal stops. The results are consistent with previously reported findings for English-speaking children with repaired CLP and further suggest that maxillary arch constriction may be a contributing factor for (a) reduced spectral distinction of alveolar targets and/or (b) palatal substitutions for alveolar targets.

  20. Toward a reconsideration of inclusion and exclusion criteria in cleft lip and palate: implications for psychological research.

    PubMed

    Feragen, Kristin Billaud; Stock, Nicola Marie; Rumsey, Nichola

    2014-09-01

    Background : This article investigates the prevalence of conditions that affect cognitive and/or psychosocial functioning in 10-year-old children born with a cleft lip and/or palate (CL/P) and explores how the presence of such additional difficulties may affect the reporting of outcomes in psychological research. Design : Cross-sectional data derived from routine psychological assessments. Setting : Centralized treatment, Norway. Participants : Data on cleft type and additional conditions were collected for 754 children with CL/P from 11 consecutive birth cohorts. Data on psychological adjustment were collected for three consecutive birth cohorts (n = 169). Main Outcome Measures : The Strengths and Difficulties Questionnaire (SDQ), completed by children and parents. Results : A total of 240 children (32%) in the sample had an additional condition, such as developmental delay, attention deficit/hyperactivity disorder, or a specific language impairment or dyslexia. Analysis of SDQ scores using conventional exclusion criteria (approach 1) was compared with a second method (approach 2), which included all children and categorized them according to the presence or absence of additional conditions. Significant variation in profiles of psychosocial adjustment was found depending on the approach to exclusion. Conclusions : The presence of additional conditions in a sample may affect results and subsequently the conclusions drawn in relation to the psychosocial adjustment of children born with CL/P. The present study emphasizes the importance of careful assessments and reporting of all associated conditions, in order to improve the understanding of the impact of a cleft and the consequences of associated conditions in this population.

  1. One-stage palate repair improves speech outcome and early maxillary growth in patients with cleft lip and palate.

    PubMed

    Pradel, W; Senf, D; Mai, R; Ludicke, G; Eckelt, U; Lauer, G

    2009-12-01

    There are several types of palatal surgery; each cleft centre chooses its own technique based on experience and treatment philosophy. The aim of this study was to compare speech outcome and maxillary growth in children with cleft lip and palate deformity after palate repair with either a one-stage or a two- stage procedure and to identify the better treatment protocol. In 24 children, speech outcome was assessed regarding resonance, nasal escape, compensatory articulations, facial grimace, and spontaneous speech. In addition, plaster models of 15 children were compared. In 12 children, a two-stage procedure was performed (group A): at the age of 9-12 months, an intravelar veloplasty for repair of the soft palate, and at the age of 24-36 months a bipedicled flap closure of the hard palate. In 12 children, the same techniques were used in a one-stage procedure, at the age of 9-12 months (group B). The children of group B showed less altered resonance and less nasal emission at 4 years of age compared to the children of group A. At 6 years, the children of group A had improved their speech skills, but they did not equal the results of group B. In the study models of group A at age 6 years, the transverse dimension (anterior and posterior width of the dental arch) was smaller than in the models of group B. The one-stage repair of cleft palate at the age of 9-12 months seems to have a more positive influence on speech development and early maxillary growth than the two-stage procedure. PMID:20400790

  2. Speech Analysis of Bengali Speaking Children with Repaired Cleft Lip & Palate

    ERIC Educational Resources Information Center

    Chakrabarty, Madhushree; Kumar, Suman; Chatterjee, Indranil; Maheshwari, Neha

    2012-01-01

    The present study aims at analyzing speech samples of four Bengali speaking children with repaired cleft palates with a view to differentiate between the misarticulations arising out of a deficit in linguistic skills and structural or motoric limitations. Spontaneous speech samples were collected and subjected to a number of linguistic analyses…

  3. Description of the methodology used in an ongoing pediatric care interventional study of children born with cleft lip and palate in South America [NCT00097149

    PubMed Central

    Wehby, George L; Castilla, Eduardo E; Goco, Norman; Rittler, Monica; Cosentino, Viviana; Javois, Lorette; McCarthy, Ann Marie; Bobashev, Georgiy; Litavecz, Stephen; Mariona, Alejandra; Dutra, Graca; López-Camelo, Jorge S; Orioli, Iêda M; Murray, Jeffrey C

    2006-01-01

    Background The contribution of birth defects, including cleft lip and palate, to neonatal and infant mortality and morbidity is substantial. As other mortality and morbidity causes including infections, hygiene, prematurity, and nutrition are eradicated in less developed countries, the burden of birth defects will increase proportionally. Methods/Design We are using cleft lip and palate as a sentinel birth defect to evaluate its burden on neonatal and infant health and to assess the effectiveness of systematic pediatric care during the first month and first two years of life in decreasing this burden. The neonatal intervention, consisting of weekly pediatric evaluation and referral to appropriate care, is delivered to about 696 infants born with cleft lip and/or palate in 47 hospitals in South America. Neonatal mortality in this group will be compared to that in a retrospective control group of about 464 infants born with cleft lip and/or palate in the same hospitals. The subgroup of infants with isolated clefts of both the lip and palate (about 264) is also randomized into two groups, intervened and non-intervened, and further followed up over 2 years. Intervened cases are evaluated by pediatricians every three months and referred for appropriate care. The intervened and non-intervened cases will be compared over study outcomes to evaluate the intervention effectiveness. Non-intervened cases are matched and compared to healthy controls to assess the burden of cleft lip and palate. Outcomes include child's neurological and physical development and family social and economic conditions. Discussion Large-scale clinical trials to improve infant health in developing countries are commonly suggested, making it important to share the methods used in ongoing studies with other investigators implementing similar research. We describe here the content of our ongoing pediatric care study in South America. We hope that this may help researchers targeting this area to plan

  4. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP) - Part 4: oral rehabilitation.

    PubMed

    Freitas, José Alberto de Souza; Almeida, Ana Lúcia Pompéia Fraga de; Soares, Simone; Neves, Lucimara Teixeira das; Garib, Daniela Gamba; Trindade-Suedam, Ivy Kiemle; Yaedú, Renato Yassutaka Faria; Lauris, Rita de Cássia Moura Carvalho; Oliveira, Thais Marchini; Pinto, João Henrique Nogueira

    2013-01-01

    Treatment of patients with cleft lip and palate is completed with fixed prostheses, removable, total, implants and aims to restore aesthetics, phonetics and function and should be guided by the basic principles of oral rehabilitation, such as physiology, stability, aesthetics, hygiene and the expectations of the patient. In order to obtain longevity of a prosthetic rehabilitation, the periodontal and dental tissue as well as the biomechanics of the prosthesis are to be respected. The purpose of this article is to describe the types of prosthetics treatment, which are performed at HRAC/USP for the rehabilitation of cleft area in adult patients.

  5. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP) - Part 4: Oral Rehabilitation

    PubMed Central

    FREITAS, José Alberto de Souza; de ALMEIDA, Ana Lúcia Pompéia Fraga; SOARES, Simone; NEVES, Lucimara Teixeira das; GARIB, Daniela Gamba; TRINDADE-SUEDAM, Ivy Kiemle; YAEDÚ, Renato Yassutaka Faria; LAURIS, Rita de Cássia Moura Carvalho; OLIVEIRA, Thais Marchini; PINTO, João Henrique Nogueira

    2013-01-01

    Treatment of patients with cleft lip and palate is completed with fixed prostheses, removable, total, implants and aims to restore aesthetics, phonetics and function and should be guided by the basic principles of oral rehabilitation, such as physiology, stability, aesthetics, hygiene and the expectations of the patient. In order to obtain longevity of a prosthetic rehabilitation, the periodontal and dental tissue as well as the biomechanics of the prosthesis are to be respected. The purpose of this article is to describe the types of prosthetics treatment, which are performed at HRAC/USP for the rehabilitation of cleft area in adult patients. PMID:23857655

  6. Easy method of centralized fixation of endotracheal tube in cleft lip and palate surgery.

    PubMed

    Bajaj, S P; Chavan, Navdeep; Sharma, Arun

    2012-01-01

    As we all know that fixation of endotracheal tube is very important aspect in cleft palate and maxillofacial surgery. During cleft palate and oral surgery various methods of fixation and modified tubes are deviced to make surgery safer and ergonomically better. Our method consist of 3 point fixation of tube (RAE) with dynaplast, which is freely available, cheap and good Adhesive quality. Dynaplast divided into 3 phalanges (one central and two lateral) and one portion undivided as central limb. This undivided central limb is fixed in centre of chin and other 3 phalanges wrap around tube on either side. This fixation totally takes away any lateral movements of tube. This method can be used with any tube (RAE/ Oxford/Flexometallic). Our method is described for its simplicity, ease and convinence and result which impart universally similar results with all different members of our anesthetist team.

  7. Clinical Aspects associated with Syndromic forms of Orofacial Clefts in a Colombian population

    PubMed Central

    Briceño Balcazar, Ignacio; Martinez Lozano, Julio; Collins, Andrew; Uricoechea Patiño, Daniel Alfredo

    2015-01-01

    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. PMID:26848196

  8. CLEFT PALATE. FOUNDATIONS OF SPEECH PATHOLOGY SERIES.

    ERIC Educational Resources Information Center

    RUTHERFORD, DAVID; WESTLAKE, HAROLD

    DESIGNED TO PROVIDE AN ESSENTIAL CORE OF INFORMATION, THIS BOOK TREATS NORMAL AND ABNORMAL DEVELOPMENT, STRUCTURE, AND FUNCTION OF THE LIPS AND PALATE AND THEIR RELATIONSHIPS TO CLEFT LIP AND CLEFT PALATE SPEECH. PROBLEMS OF PERSONAL AND SOCIAL ADJUSTMENT, HEARING, AND SPEECH IN CLEFT LIP OR CLEFT PALATE INDIVIDUALS ARE DISCUSSED. NASAL RESONANCE…

  9. Transverse dentofacial structure of young men who have undergone surgical correction of unilateral cleft lip and palate: a posteroanterior cephalometric study.

    PubMed

    Athanasiou, A E; Hack, B; Enemark, H; Sindet-Pedersen, S

    1996-01-01

    The transverse dentofacial structure of 34 young adult males with unilateral cleft lip and palate, studied by means of posteroanterior cephalograms, was compared to that of a normal sample of 102 young adult males. All cleft patients had been treated surgically and orthodontically in accordance with a standardized protocol. Orthognathic surgical treatment was carried out when growth had ended in a few subjects. In studying the posteroanterior cephalograms, eight lengths, 10 ratios, and three angular variables were used. Comparison of the cephalometric values of the subjects with cleft palate and the normal sample of young adult males indicated (1) the absence of any significant differences in angular variables describing the transverse dentoalveolar relationships in the maxillary and mandibular incisal regions as well as the mandibular position; (2) the absence of any significant differences in the ratios of the nasal, maxillary, and mandibular widths to the interorbital width; (3) the presence, in the cleft group of significantly decreased ratios of maxillary intermolar width to interorbital width, mandibular intermolar width to interorbital width, maxillary intermolar width to mandibular intermolar width, and maxillary intermolar width to maxillary width; (4) the presence, in the cleft group, of a significantly increased ratio of innerorbital width to interorbital width; and (5) significant correlations between the maxillary and mandibular molar widths in the cleft group.

  10. Association between Maternal MTHFR Polymorphisms and Nonsyndromic Cleft Lip with or without Cleft Palate in Offspring, A Meta-Analysis Based on 15 Case-Control Studies

    PubMed Central

    Pan, Xinjuan; Wang, Ping; Yin, Xinjuan; Liu, Xiaozhuan; Li, Di; Li, Xing; Wang, Yongchao; Li, Hongle; Yu, Zengli

    2015-01-01

    Background The methylenetetrahydrofolate reductase (MTHFR) is thought to be involved in the development of nonsyndromic cleft lip with or without cleft palate (NSCL/P). However, conflicting results have been obtained when evaluating the association between maternal MTHFR C677T and A1298C polymorphisms and the risk of NSCL/P. In light of this gap, a meta-analysis of all eligible case-control studies was conducted in the present study. Materials and Methods A total of 15 case-control studies were ultimately identified after a comprehensive literature search and Hardy-Weinberg equilibrium (HWE) examination. Cochrane’s Q test and index of heterogeneity (I2) indicated no obvious heterogeneity among studies. Results Fixed or random-effects models were used to calculate the pooled odds ratios (ORs). The results showed that the TT genotype in mothers increased the likelihood of having NSCL/P offspring 1.25 times (95% CI: 1.047-1.494) more than the CC homozygotes. Meanwhile, maternal TT genotype increased the risk of producing NSCL/P offspring in recessive model (OR=1.325, 95% CI: 1.124-1.562). However, the CT heterozygote and the CT+TT dominant models had no association with NSCL/P offspring compared with the CC wild-type homozygote model. Subgroup analyses based on ethnicity indicated that maternal TT genotype increased the likelihood of having NSCL/P offspring in Whites (OR=1.308, 95% CI: 1.059-1.617) and Asians (OR=1.726, 95% CI: 1.090-2.733) in recessive model. Also, subgroup analyses based on source of control showed that mothers with the 677TT genotype had a significantly increased susceptibility of having NSCL/P children in hospital based population (HB) when compared with CC homozygotes (OR=1.248, 95% CI: 1.024-1.520) and un- der the recessive model (OR=1.324, 95% CI: 1.104-1.588). Furthermore, maternal A1298C polymorphism had no significant association with producing NSCL/P offspring (dominant model OR=0.952, 95% CI: 0.816-1.111, recessive model OR=0.766, 95% CI

  11. Cleft Palate Foundation

    MedlinePlus

    ... Spanish , and Mandarin ! Information on Cleft Lip and Palate Our booklets and factsheets address a variety of ... Bear. –Paige with her Cleftline™ teddy bear– Cleft Palate Foundation 1504 East Franklin Street, Suite 102 Chapel ...

  12. Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate

    PubMed Central

    Liu, Huan; Leslie, Elizabeth J.; Jia, Zhonglin; Smith, Tiffany; Eshete, Mekonen; Butali, Azeez; Dunnwald, Martine; Murray, Jeffrey; Cornell, Robert A.

    2016-01-01

    Non-syndromic (NS) cleft lip with or without cleft palate (CL/P) is a common disorder with a strong genetic underpinning. Genome-wide association studies have detected common variants associated with this disorder, but a large portion of the genetic risk for NSCL/P is conferred by unidentified rare sequence variants. Mutations in IRF6 (Interferon Regulatory Factor 6) and GRHL3 (Grainyhead-like 3) cause Van der Woude syndrome, which includes CL/P. Both genes encode members of a regulatory network governing periderm differentiation in model organisms. Here, we report that Krüppel-like factor 17 (Klf17), like Grhl3, acts downstream of Irf6 in this network in zebrafish periderm. Although Klf17 expression is absent from mammalian oral epithelium, a close homologue, Klf4, is expressed in this tissue and is required for the differentiation of epidermis. Chromosome configuration capture and reporter assays indicated that IRF6 directly regulates an oral-epithelium enhancer of KLF4. To test whether rare missense variants of KLF4 contribute risk for NSCL/P, we sequenced KLF4 in approximately 1000 NSCL/P cases and 300 controls. By one statistical test, missense variants of KLF4 as a group were enriched in cases versus controls. Moreover, two patient-derived KLF4 variants disrupted periderm differentiation upon forced expression in zebrafish embryos, suggesting that they have dominant-negative effect. These results indicate that rare NSCL/P risk variants can be found in members of the gene regulatory network governing periderm differentiation. PMID:26692521

  13. An observational study of the feasibility of Airtraq guided intubations with Ring Adair Elvin tubes in pediatric population with cleft lip and palate

    PubMed Central

    Sharma, Ashima; Durga, Padmaja; Gurajala, Indira; Ramchandran, Gopinath

    2015-01-01

    Context: The airway management requires refined skills and technical help when associated with cleft lip and palate. Airtraq has improved our airway management skills and has been successfully used for rescue intubation in difficult pediatric airways. Aims: This study was to evaluate the efficacy of Airtraq as the primary intubation device in patients with cleft lip and palate. The study adheres to the STrengthening the Reporting of OBservational Studies Epidemiology Statement. Subjects and Methods: A total of 85 children posted consecutively for lip and palate repair were enrolled. Children were intubated with Ring Adair Elvin (RAE) tube using size 1 and 2 of Airtraq device. The design of Airtraq has an anatomical limitation to hold RAE tubes. The preformed bend of the tube was straightened with a malleable stylet. The intubations were assessed for device manipulations and time taken for glottis visualization and intubation, airway complications such as bleeding, laryngospasm and failed intubations. Statistical Analysis Used: The outcome data were reported as numbers and percentages or range with identified median value, where applicable. Results: The success rate of Airtraq guided intubations was 98.21%. The cumulative insertion times and intubation times were 31.50 ± 12.57 s and 48.04 ± 35.73 s respectively. Airtraq manipulations were applied in 25.45% subjects. Conclusions: The presence of cleft lip or palate did not hamper the insertion of Airtraq. The use of malleable stylet to facilitate the loading of the preformed tube into the guide channel is a simple and efficacious improvisation. Airtraq can be utilized as a primary intubation device in children with orofacial clefts. PMID:26712974

  14. [Language acquisition in cleft lip-palate (CLP) children. 2. Linguistic diagnosis and therapeutic approaches].

    PubMed

    Herrmann, W; Bitter, K

    1990-01-01

    The major tests and methods used in language acquisition diagnosis in CLP children of 3 months to 6 years of age are described. Apart from methods for phonetic analysis, such as spectrography, emphasis is being placed on the assessment of listening by hearing and of semantic and meta-linguistic acquisition. Additional information is obtained on the motoric, cognitive and social development (for detecting any possible multiple handicaps in these areas). In this context the major problems covered in cleft palate parent groups are also pointed out. Finally, the speech therapy provided for preschool children with severe speech problems (as compared with the control group) is outlined. PMID:2102408

  15. Oral health related quality of life in cleft lip and palate patients rehabilitated with conventional prostheses or dental implants

    PubMed Central

    Papi, Piero; Giardino, Rita; Sassano, Pierpaolo; Amodeo, Giulia; Pompa, Giorgio; Cascone, Piero

    2015-01-01

    Objectives: Cleft lip and/or palate (CLP) is the most common congenital craniofacial abnormality, with a prevalence of 9.92 per 10,000 live births. In treating patients with CLP, oral rehabilitation is definitely a very important phase of the treatment in order to improve the patient's oral health related quality of life (OH-QoL). The aim of this retrospective study is to assess the OH-QoL in patients rehabilitated with different prosthetic options, thus comparing the conventional treatments, which include removable partial dentures and fixed partial dentures, with the implant-supported prostheses. Materials and Methods: Sixty-three patients were enrolled in this retrospective survey [44 females (69.84%) and 19 males (30.16%)] with a mean age of 34.93 ± 7.04 years (age range 21–53 years). They were all treated for CLP and rehabilitated with a conventional prosthesis or an implant-supported denture. Two different questionnaires were used in the present study to evaluate patients’ OH-QoL: The Italian version of the 49-item Oral Health Impact Profile (OHIP-49) and the Italian version of the Cleft Evaluation Profile (CEP). Statistical analysis was performed using analysis of variance (ANOVA) test, with a significant P < 0,05. Results: Data analysis revealed that patients rehabilitated with implant-supported dentures and fixed partial dentures showed a good level of satisfaction with their prostheses, scoring low values in the OHIP-49 and high values in the CEP, while subjects with removable partial dentures scored the highest values in the OHIP-49 and the lowest values in the CEP, which means an unsatisfactory feeling (P < 0.05). Conclusions: OH-QoL is a challenging demand for all prosthodontists. Our results show, clearly, that patients rehabilitated with implant-supported dentures are more satisfied compared to subjects with fixed partial dentures and removable partial dentures. PMID:26759802

  16. Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family

    PubMed Central

    Cvjetkovic, Nevena; Maili, Lorena; Weymouth, Katelyn S; Hashmi, S Shahrukh; Mulliken, John B; Topczewski, Jacek; Letra, Ariadne; Yuan, Qiuping; Blanton, Susan H; Swindell, Eric C; Hecht, Jacqueline T

    2015-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect affecting 135,000 newborns worldwide each year. While a multifactorial etiology has been suggested as the cause, despite decades of research, the genetic underpinnings of NSCLP remain largely unexplained. In our previous genome-wide linkage study of a large NSCLP African-American family, we identified a candidate locus at 8q21.3-24.12 (LOD = 2.98). This region contained four genes, Frizzled-6 (FZD6), Matrilin-2 (MATN2), Odd-skipped related 2 (OSR2) and Solute Carrier Family 25, Member 32 (SLC25A32). FZD6 was located under the maximum linkage peak. In this study, we sequenced the coding and noncoding regions of these genes in two affected family members, and identified a rare variant in intron 1 of FZD6 (rs138557689; c.-153 + 432A>C). The variant C allele segregated with NSCLP in this family, through affected and unaffected individuals, and was found in one other NSCLP African-American family. Functional assays showed that this allele creates an allele-specific protein-binding site and decreases promoter activity. We also observed that loss and gain of fzd6 in zebrafish contributes to craniofacial anomalies. FZD6 regulates the WNT signaling pathway, which is involved in craniofacial development, including midfacial formation and upper labial fusion. We hypothesize, therefore, that alteration in FZD6 expression contributes to NSCLP in this family by perturbing the WNT signaling pathway. PMID:26436110

  17. [Medical exchange between faculty of medicine, university of the Ryukyus and Laos country. Medical support with a cleft lip and palate treatment].

    PubMed

    Sunakawa, Hajime

    2013-09-01

    The Faculty of Medicine, University of the Ryukyus, started a "Public Health Project in Lao P.D.R.", which is one of the JICA projects, in 1992, and has been carrying out the "Sethathirath Hospital Improvement Project" since 1999 to improve medical treatment and health care in Lao P.D.R. Marked progress has been made. In addition, the projects of "Medical support for cleft lip and palate patients" performed by both the Oral and Maxillofacial Surgery Department of the University of the Ryukyus Hospital and Okinawa-Laos Cleft Lip and Palate Support Center have continued since 2001. So far, 231 cleft lip and palate patients have benefited from these projects, and favorable effects of medical education and technology transfer for medical staff in Laos have been obtained. Furthermore, during the 3-year period of another JICA project, called "From tooth brushing to oral health--Oral care education for Laos children", the dental caries rate of children in Donkoi Elementary School in Laos reduced from 92.5 to 61.8%, showing a decrease of 30.7%. Based on these encouraging results, in 2012, the JICA started a larger partnership project named 'Cha-ganzyu', which is from the dialect of Okinawa meaning health forever, focusing on oral health improvement of school children and local people of Laos. PMID:24369598

  18. Treatment outcome and long-term stability of skeletal changes following maxillary distraction in adult subjects of cleft lip and palate

    PubMed Central

    Singh, Satinder Pal; Jena, Ashok Kumar; Rattan, Vidya; Utreja, Ashok Kumar

    2012-01-01

    Aim: To evaluate the treatment outcome and long-term stability of skeletal changes following maxillary advancement with distraction osteogenesis in adult subjects of cleft lip and palate. Materials and Methods: Total 12 North Indian adult patients in the age range of 17-34 years with cleft lip and palate underwent advancement of maxilla by distraction osteogenesis. Lateral cephalograms recorded prior to distraction, at the end of distraction, 6 months after distraction, and at least 24 months (mean 25.5 ± 1.94 months) after distraction osteogenesis were used for the evaluation of treatment outcome and long-term stability of the skeletal changes. Descriptive analysis, ANOVA, and post-hoc test were used, and P-value 0.05 was considered as a statistically significant level. Results: Maxillary distraction resulted in significant advancement of maxilla (P<0.001). Counterclockwise rotation of the palatal plane took place after maxillary distraction. The position of the mandible and facial heights were stable during distraction. During the first 6 months of the post-distraction period, the maxilla showed relapse of approximately 30%. However, after 6 months post distraction, the relapse was very negligible. Conclusions: Successful advancement of maxilla was achieved by distraction osteogenesis in adult subjects with cleft lip and palate. Most of the relapse occurred during the first 6 months of post-distraction period, and after that the outcomes were stable. PMID:22919221

  19. Secondary alveolar bone grafting in cleft of the lip and palate patients

    PubMed Central

    Walia, Abhilashaa

    2011-01-01

    Aim: The aim was to restore the function and form of both arches with a proper occlusal relationship and eruption of tooth in the cleft area. Materials and Methods: Eleven patients were selected irrespective of sex and socio-economic status and whose age was within the mixed dentition period. Iliac crest is grafted in cleft area and subsequently evaluated for graft success using study models, and periapical and occlusal radiographs. Results: At the time of evaluation teeth were erupted in the area and good alveolar bone levels were present. Premaxilla becomes immobile with a good arch form and arch continuity. There are no major complications in terms of pain, infection, paraesthesia, hematoma formation at donor site without difficulty in walking. There is no complication in terms of pain, infection, exposure of graft, rejection of graft, and wound dehiscence at the recipient site. Discussion: It is evident that secondary alveolar grafting during the mixed dentition period is more beneficial for patients at the donor site as well as the recipient site. Conclusion: Long-term follow-up is required to achieve maximum advantage of secondary alveolar grafting; the age of the patient should be within the mixed dentition period, irrespective of sex, socio-economic status. It may be unilateral or bilateral. PMID:22090755

  20. Computer-Assisted Orthognathic Surgery for Patients with Cleft Lip/Palate: From Traditional Planning to Three-Dimensional Surgical Simulation

    PubMed Central

    Lonic, Daniel; Pai, Betty Chien-Jung; Yamaguchi, Kazuaki; Chortrakarnkij, Peerasak; Lin, Hsiu-Hsia; Lo, Lun-Jou

    2016-01-01

    Background Although conventional two-dimensional (2D) methods for orthognathic surgery planning are still popular, the use of three-dimensional (3D) simulation is steadily increasing. In facial asymmetry cases such as in cleft lip/palate patients, the additional information can dramatically improve planning accuracy and outcome. The purpose of this study is to investigate which parameters are changed most frequently in transferring a traditional 2D plan to 3D simulation, and what planning parameters can be better adjusted by this method. Patients and Methods This prospective study enrolled 30 consecutive patients with cleft lip and/or cleft palate (mean age 18.6±2.9 years, range 15 to 32 years). All patients received two-jaw single-splint orthognathic surgery. 2D orthodontic surgery plans were transferred into a 3D setting. Severe bony collisions in the ramus area after 2D plan transfer were noted. The position of the maxillo-mandibular complex was evaluated and eventually adjusted. Position changes of roll, midline, pitch, yaw, genioplasty and their frequency within the patient group were recorded as an alternation of the initial 2D plan. Patients were divided in groups of no change from the original 2D plan and changes in one, two, three and four of the aforementioned parameters as well as subgroups of unilateral, bilateral cleft lip/palate and isolated cleft palate cases. Postoperative OQLQ scores were obtained for 20 patients who finished orthodontic treatment. Results 83.3% of 2D plans were modified, mostly concerning yaw (63.3%) and midline (36.7%) adjustments. Yaw adjustments had the highest mean values in total and in all subgroups. Severe bony collisions as a result of 2D planning were seen in 46.7% of patients. Possible asymmetry was regularly foreseen and corrected in the 3D simulation. Conclusion Based on our findings, 3D simulation renders important information for accurate planning in complex cleft lip/palate cases involving facial asymmetry that is

  1. International confederation for cleft lip and palate and related craniofacial anomalies task force report: holistic outcomes.

    PubMed

    Broder, Hillary L

    2014-11-01

    Objective : This paper describes the process and outcomes of the 2013 American Cleft Palate-Craniofacial Association task force on Holistic Outcomes. The goals and membership of the task force are presented. Methods : Using internet communication, the group introduced themselves, shared ideas and information related to holistic assessment and implementation of using a validated holistic measure, the Child Oral Health Impact Profile (COHIP) at participating international sites. Results : Data from the sites were analyzed using descriptive statistics. Administration of the COHIP was successful. It varied from self-completion as well as verbal presentation due to language differences and a function of the short time period to complete collection. Additionally qualitative comments were reported by the task force site directors. Conclusions : Future directions for holistic assessment and communication among task force members and sites were discussed at the Congress and are presented in this report.

  2. Anterior maxillary segmental distraction in the treatment of severe maxillary hypoplasia secondary to cleft lip and palate

    PubMed Central

    Li, Hongliang; Dai, Jiewen; Si, Jiawen; Zhang, Jianfei; Wang, Minjiao; Shen, Steve Guofang; Yu, Hongbo

    2015-01-01

    Anterior maxillary segmental distraction (AMSD) is an effective surgical procedure in the treatment of maxillary hypoplasia secondary to cleft lip and palate. Its unique advantage of preserving velopharyngeal function makes this procedure widely applied. In this study, the application of AMSD was described and its long-term stability was explored. Eight patients with severe maxillary hypoplasia secondary to CLP were included in this study. They were treated with AMSD using rigid external distraction (RED) device. Cephalometric analysis was performed twice at three time points for evaluation: before surgery (T1), after distraction (T2), and 2 years after treatment (T3). One-way analysis of variance was used to assess the differences statistically. All the distractions completed smoothly, and maxilla was distracted efficiently. The value of SNA, NA-FH, Ptm-A, U1-PP, overjet and PP (ANS-PNS) increased significantly after the AMSD procedure (P < 0.05), with the mean overjet increased by 14.28 mm. However, comparison of cephalometric analysis between T2 and T3 showed no significant difference (P > 0.05). Changes of palatopharyngeal depth and soft palatal length were insignificant. AMSD with RED device provided an effective way to correct maxillary hypoplasia secondary to CLP, extended the palatal and arch length, avoided damage on velopharyngeal closure function and reduced the relapse rate. It is a promising and valuable technique in this potentially complicated procedure. PMID:26629107

  3. Prosthodontic Management in Conjunction with Speech Therapy in Cleft Lip and Palate: A Review and Case Report

    PubMed Central

    Dhakshaini, M R; Pushpavathi, M; Garhnayak, Mirna; Dhal, Angurbala

    2015-01-01

    Cleft lip and palate (CLP), a congenital disturbance needs a lot of attention with respect to its rehabilitation as a person suffering from this defect can lead a normal life given with the right type of treatment at the right time. However, if a patient cannot get surgical treatment at the appropriate time either due to availability or economic constraints, it is still possible to improve their social and psychological well-being with prosthodontic rehabilitation. The literature search was carried out through PubMed and Google scholar and manual search. The articles related to prosthodontic treatment in congestion with speech therapy and some articles on psychological assessment were considered The available prosthodontic treatment options for improvement of speech is discussed and highlighted the importance of prosthetic management of such patients along with a speech therapist. Also, a review of the available prosthetic treatment options is discussed in detail. Finally, a case report of a CLP patient treated prosthodontically with the assistance of speech pathologist is presented. PMID:26668496

  4. A quantitative three-dimensional assessment of soft tissue facial asymmetry of cleft lip and palate adult patients.

    PubMed

    Ferrario, Virgilio F; Sforza, Chiarella; Dellavia, Claudia; Tartaglia, Gianluca M; Colombo, Anna; Carù, Armando

    2003-09-01

    The three-dimensional coordinates of 23 selected soft-tissue facial landmarks were digitized on 18 cleft lip and palate (CLP) white patients (11 male and 7 female patients aged 19-27 years) and 161 healthy controls (73 female and 89 male subjects aged 18-30 years) by an electromagnetic instrument. Facial asymmetry was quantified by detecting a plane of symmetry and the centers of gravity (CG) of the right and left hemifaces and by calculating the distance between the two CG (distance from symmetry [DFS]). Both absolute (millimeters) and percentage (of the nasion center of gravity distance) DFS was obtained. The asymmetry of single landmarks was also quantified. Overall, asymmetry in operated CLP patients appeared only moderately larger than that measured in the healthy reference population, with the largest value being only 5% larger than the maximum normal asymmetry. Female patients had a somewhat larger lateral asymmetry than male patients, and unilateral CLP patients (particularly the men) were more asymmetrical than bilateral CLP patients. Pronasale and subnasale landmarks were asymmetrical in 8 patients, whereas endocanthion, zygion, cheilion, and gonion landmarks were symmetrical in all patients. In conclusion, the facial soft-tissue structures of CLP patients operated on as adults were only moderately more asymmetrical than those measured in a reference group of the same age, sex, and ethnicity.

  5. Maxillary protraction in adult cleft lip and palate by a rigid external distraction device with dentoskeletal anchorage

    PubMed Central

    Akarsu, Bengisu; Taner, Tulin; Tuncbilek, Gokhan; Mavili, M. Emin

    2012-01-01

    Objective: The objective is to evaluate the effects of maxillary distraction osteogenesis (DO) in an adult patient with unilateral cleft lip and palate (UCLP) by using a rigid external distraction (RED) device with dentoskeletal anchorage. Method: 31-year-old male patient with UCLP with severe maxillary hypoplasia, dolichofacial growth pattern, negative overjet and 1.5 mm openbite. After pre-surgical orthodontic treatment, an intra-oral appliance was modified to prevent extrusion of the molars and clockwise rotation of the mandible. Stainless steel plates were soldered bilaterally to the intra oral appliance at the level of canines. During surgery, miniplates were inserted in the maxillary segment and fixed to the plates of the intra oral appliance with screws. Results: The mean distraction length was 12 mm immediately after DO. SNA increased from 73o to 82o after distraction. A significant advancement of the maxilla and correction of the sagittal Class III skeletal relationship was achieved. The vertical position of the mandible and the face was kept stable, and the soft tissue profile became more balanced. Conclusion: This intra oral appliance design achieved desired skeletal changes during maxillary protraction with RED device in dolichofacial CLP patient. Occlusion and facial profile changes was found to be stable in 1-year follow-up. PMID:22509125

  6. X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts.

    PubMed

    Patel, Poorav J; Beaty, Terri H; Ruczinski, Ingo; Murray, Jeffrey C; Marazita, Mary L; Munger, Ronald G; Hetmanski, Jacqueline B; Wu, Tao; Murray, Tanda; Rose, Margaret; Redett, Richard J; Jin, Sheng C; Lie, Rolv T; Wu-Chou, Yah-Huei; Wang, Hong; Ye, Xiaoqian; Yeow, Vincent; Chong, Samuel; Jee, Sun H; Shi, Bing; Scott, Alan F

    2013-04-01

    As part of an international consortium, case-parent trios were collected for a genome-wide association study of isolated, non-syndromic oral clefts, including cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP). Non-syndromic oral clefts have a complex and heterogeneous etiology. Risk is influenced by genes and environmental factors, and differs markedly by gender. Family-based association tests (FBAT) were used on 14,486 single nucleotide polymorphisms (SNPs) spanning the X chromosome, stratified by type of cleft and racial group. Significant results, even after multiple-comparisons correction, were obtained for the Duchenne muscular dystrophy (DMD) gene, the largest single gene in the human genome, among CL/P (i.e., both CL and CLP combined) trios. When stratified into groups of European and Asian ancestry, stronger signals were obtained for Asian subjects. Although conventional sliding-window haplotype analysis showed no increase in significance, selected combinations of the 25 most significant SNPs in the DMD gene identified four SNPs together that attained genome-wide significance among Asian CL/P trios, raising the possibility of interaction between distant SNPs within the DMD gene. PMID:23489894

  7. Soft-tissue profile changes during widening and protraction of the maxilla in patients with cleft lip and palate compared with normal growth and development.

    PubMed

    Tindlund, R S; Rygh, P

    1993-09-01

    During the last 15 years, cleft lip and palate (CLP) patients with maxillary deficiency in the care of the Bergen CLP team have undergone an interceptive orthopedic treatment phase during the deciduous and mixed dentition period. The present study includes 68 patients who received maxillary transverse expansion by use of a modified quad-helix appliance and 98 cases given maxillary protraction by a facial mask. All cases were treated until an acceptable normal occlusion was attained. Lateral cephalograms were taken immediately before and after the active treatment periods. Sagittal changes of the soft-tissue profile during transverse expansion and protraction were analyzed separately for unilateral complete cleft lip and palate (UCLP) patients and bilateral complete cleft lip and palate (BCLP) patients. The soft-tissue profiles of the groups were compared to growth changes of noncleft age-matched children (NORM group). During the short period of maxillary transverse expansion (mean period, 3.5 months) no significant change of the soft-tissue profile was found, except in the protrusion of the lower lip in the BCLP group. During the period of maxillary protraction (mean periods, 12 months in the UCLP group and 15 months in the BCLP group) the soft-tissue profile improved significantly by reducing the characteristic tendency towards a concave profile in CLP patients with maxillary deficiency. Significant increases of the sagittal maxillomandibular lip relation (angle SS-N-SM: mean increase, 2.5 degrees) and the Holdaway-angle (H-angle: mean increase, 3.0 degrees) were found to be similar in the UCLP and BCLP groups. However, the use of different reference lines for evaluation of treatment effects upon the soft-tissue profile resulted in conflicting findings suggesting that anteriorly situated reference lines are more suitable for the evaluation of CLP patients. Thus, the esthetic line (E.line) indicated a favorable position of the lips after treatment; the subspinale

  8. Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

    PubMed Central

    Roosenboom, J.; Saey, I.; Peeters, H.; Devriendt, K.; Claes, P.; Hens, G.

    2015-01-01

    Evidence exists for the presence of a specific facial phenotype in nonaffected first-degree relatives of persons with CL/P. An increased risk for olfactory dysfunction has also been reported in CL/P-relatives. These phenotypic features can probably be explained via the presence of CL/P-related susceptibility genes. We aimed at confirming the occurrence of these endophenotypic traits in first-degree CL/P-relatives, and we investigated the link between the facial phenotype and the smell capacity in this group. We studied the facial morphology of 88 nonaffected first-degree relatives of patients with CL/P and 33 control subjects without family history of facial clefting by 3D surface imaging and a spatially dense analysis of the images. Smell testing was performed in 30 relatives and compared with 23 control subjects. Nonaffected relatives showed midface retrusion, hypertelorism, and olfactory dysfunction, compared to controls. In addition, we show for the first time that olfactory dysfunction in relatives is correlated to a smaller upper nasal region. This might be explained by a smaller central olfactory system. The different facial morphology in the relatives with olfactory impairment as compared to the total group may be an illustration of the contribution of different genetic backgrounds to the occurrence of CL/P via different biological pathways. PMID:26064961

  9. Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate.

    PubMed

    Roosenboom, J; Saey, I; Peeters, H; Devriendt, K; Claes, P; Hens, G

    2015-01-01

    Evidence exists for the presence of a specific facial phenotype in nonaffected first-degree relatives of persons with CL/P. An increased risk for olfactory dysfunction has also been reported in CL/P-relatives. These phenotypic features can probably be explained via the presence of CL/P-related susceptibility genes. We aimed at confirming the occurrence of these endophenotypic traits in first-degree CL/P-relatives, and we investigated the link between the facial phenotype and the smell capacity in this group. We studied the facial morphology of 88 nonaffected first-degree relatives of patients with CL/P and 33 control subjects without family history of facial clefting by 3D surface imaging and a spatially dense analysis of the images. Smell testing was performed in 30 relatives and compared with 23 control subjects. Nonaffected relatives showed midface retrusion, hypertelorism, and olfactory dysfunction, compared to controls. In addition, we show for the first time that olfactory dysfunction in relatives is correlated to a smaller upper nasal region. This might be explained by a smaller central olfactory system. The different facial morphology in the relatives with olfactory impairment as compared to the total group may be an illustration of the contribution of different genetic backgrounds to the occurrence of CL/P via different biological pathways.

  10. Prenatal diagnosis of cleft lip/palate: The surface rendered oro-palatal (SROP) view of the fetal lips and palate, a tool to improve information-sharing within the orofacial team and with the parents.

    PubMed

    Levaillant, Jean-Marc; Nicot, Romain; Benouaiche, Laurence; Couly, Gérard; Rotten, Daniel

    2016-07-01

    The ultrasonographic surface rendered oro-palatal (SROP) view is a 3D reconstructed view of the fetal perioral region, which combines ultrasound insonation in a trans oral, upward directed axial direction and the surface rendered mode. It allows the simultaneous visualization on a single scan of the superior lip, alveolar ridge and secondary palate. It corresponds prenatally to the submental intra oral photography of the palate of neonates. The aim of the study was to demonstrate the benefice of using the SROP view in the management of cleft lip with or without cleft palate, uni- or bi-lateral, diagnosed prenatally (22-28 gestational weeks). The SROP view allowed the representation on a single view of the characteristics of the defect useful to the different members of the orofacial team to exactly evaluate the difformity and to plan the ulterior therapeutic steps (e.g. side, extension of the cleft to the secondary palate, tooth organization). Also, being easier to read by lay people thanks to the use of a surface rendered representation rather than the usual multiplanar reconstructions in the three traditional orthogonal planes, the SROP view makes it easier to bring exact information to the parents about the malformation and its consequences. PMID:27211349

  11. Interaction between IRF6 and TGFA Genes Contribute to the Risk of Nonsyndromic Cleft Lip/Palate

    PubMed Central

    Letra, Ariadne; Fakhouri, Walid; Fonseca, Renata F.; Menezes, Renato; Kempa, Inga; Prasad, Joanne L.; McHenry, Toby G.; Lidral, Andrew C.; Moreno, Lina; Murray, Jeffrey C.; Daack-Hirsch, Sandra; Marazita, Mary L.; Castilla, Eduardo E.; Lace, Baiba; Orioli, Ieda M.; Granjeiro, Jose M.; Schutte, Brian C.; Vieira, Alexandre R.

    2012-01-01

    Previous evidence from tooth agenesis studies suggested IRF6 and TGFA interact. Since tooth agenesis is commonly found in individuals with cleft lip/palate (CL/P), we used four large cohorts to evaluate if IRF6 and TGFA interaction contributes to CL/P. Markers within and flanking IRF6 and TGFA genes were tested using Taqman or SYBR green chemistries for case-control analyses in 1,000 Brazilian individuals. We looked for evidence of gene-gene interaction between IRF6 and TGFA by testing if markers associated with CL/P were overtransmitted together in the case-control Brazilian dataset and in the additional family datasets. Genotypes for an additional 142 case-parent trios from South America drawn from the Latin American Collaborative Study of Congenital Malformations (ECLAMC), 154 cases from Latvia, and 8,717 individuals from several cohorts were available for replication of tests for interaction. Tgfa and Irf6 expression at critical stages during palatogenesis was analyzed in wild type and Irf6 knockout mice. Markers in and near IRF6 and TGFA were associated with CL/P in the Brazilian cohort (p<10−6). IRF6 was also associated with cleft palate (CP) with impaction of permanent teeth (p<10−6). Statistical evidence of interaction between IRF6 and TGFA was found in all data sets (p = 0.013 for Brazilians; p = 0.046 for ECLAMC; p = 10−6 for Latvians, and p = 0.003 for the 8,717 individuals). Tgfa was not expressed in the palatal tissues of Irf6 knockout mice. IRF6 and TGFA contribute to subsets of CL/P with specific dental anomalies. Moreover, this potential IRF6-TGFA interaction may account for as much as 1% to 10% of CL/P cases. The Irf6-knockout model further supports the evidence of IRF6-TGFA interaction found in humans. PMID:23029012

  12. Understanding Cleft and Craniofacial Team Care

    MedlinePlus

    ... Donor Spotlight Fundraising Ideas Vehicle Donation Volunteer Efforts Cleft Lip/Palate & Craniofacial Specialists in Your Area skip to submenu Parents & Individuals Cleft Lip/Palate & Craniofacial Specialists in Your Area Team Disclaimer ...

  13. Straight-line closure: a preliminary to Millard closure in unilateral cleft lips (with a history of the straight-line closure, including the Mirault misunderstanding).

    PubMed

    Furnas, D W

    1984-10-01

    We have completed 25 SLC-RAC sequences for complete unilateral clefts of the lip, using the straight-line closure as a preliminary step to facilitate the definitive closure, which is done about 6 months later. Fourteen of the straight-line closures were done on newborn children with local anesthesia, and the rest were done at a later time under general anesthesia because of later referral or refuge/immigrant status, using general anesthesia. We have had no major complications such as lip dehiscence, major infection, respiratory problems, or bleeding. Since our original publication, we have increased the scope of the straight-line closure to include wider nasal undermining for better repositioning of the nasal structures, and we have adopted Millard's technique of lining the gap in the pyriform aperture with a vermilion flap (Millard's "L" flap). Our oldest patient is not yet in adolescence, so our study is incomplete, but our impression is that the preliminary straight-line closure has materially improved the results of surgery for complete unilateral cleft lips. The history of the straight-line closure forms a continuum from the 1st century A.D., and includes Malgaigne, Mirault, and Veau repairs as well as those of many others.

  14. Factors that affect variability in impairment of maxillary growth in patients with cleft lip and palate treated using the same surgical protocol.

    PubMed

    Meazzini, Maria Costanza; Tortora, Chiara; Morabito, Alberto; Garattini, Giovanna; Brusati, Roberto

    2011-09-01

    No consensus exists about the causes of restriction of maxillary growth in patients with cleft lip and palate (CLP). The aim of this study was to try to identify causes of this impairment other than the influence of surgical technique and skill. We analysed a sample of 129 consecutively treated 5-year-old children with unilateral cleft lip and palate (UCLP), who were operated on by the same surgeon with the same protocol. Multiple cephalometric measurements of the sample showed a wide distribution of values for maxillary growth. We selected SNA as a value describing maxillary position. Variables investigated were: initial cast measurements; timing of lip and of gingivoalveoloplasty (GAP)/palatal surgery; and presence of permanent lateral incisors. The significance of differences was investigated with Pearson's correlation and analysis of variance (ANOVA). The factor most significantly linked with maxillary protrusion was the presence or absence of the permanent lateral incisor, even when peg laterals and supernumerary laterals were considered. Initial width of the palate measured on infant casts correlated with maxillary growth, but the timing of GAP did not. Although surgical skill and technique may be the most important factors responsible for impairment of maxillary growth, inherent tissue hypoplasia, possibly the lack of lateral incisors, seems to be the most important non-iatrogenic factor.

  15. Bilateral cleft lip and palate: A morphometric analysis of facial skeletal form using cone beam computed tomography.

    PubMed

    Starbuck, John M; Ghoneima, Ahmed; Kula, Katherine

    2015-07-01

    Bilateral cleft lip and palate (BCLP) is caused by a lack of merging of maxillary and nasal facial prominences during development and morphogenesis. BCLP is associated with congenital defects of the oronasal facial region that can impair ingestion, mastication, speech, and dentofacial development. Using cone beam computed tomography (CBCT) images, 7- to 18-year old individuals born with BCLP (n = 15) and age- and sex-matched controls (n = 15) were retrospectively assessed. Coordinate values of three-dimensional facial skeletal anatomical landmarks (n = 32) were measured from each CBCT image. Data were evaluated using principal coordinates analysis (PCOORD) and Euclidean Distance Matrix Analysis (EDMA). PCOORD axes 1-3 explain approximately 45% of the morphological variation between samples, and specific patterns of morphological differences were associated with each axis. Approximately, 30% of facial skeletal measures significantly differ by confidence interval testing (α = 0.10) between samples. While significant form differences occur across the facial skeleton, strong patterns of differences are localized to the lateral and superioinferior aspects of the nasal aperture. In conclusion, the BCLP deformity significantly alters facial skeletal morphology of the midface and oronasal regions of the face, but morphological differences were also found in the upper facial skeleton and to a lesser extent, the lower facial skeleton. This pattern of strong differences in the oronasal region of the facial skeleton combined with differences across the rest of the facial complex underscores the idea that bones of the craniofacial skeleton are integrated. PMID:25752824

  16. Investigating Oral Microbiome Profiles in Children with Cleft Lip and Palate for Prognosis of Alveolar Bone Grafting

    PubMed Central

    Liu, Luwei; Zhang, Qian; Lin, Jiuxiang; Ma, Lian; Zhou, Zhibo; He, Xuesong; Jia, Yilin; Chen, Feng

    2016-01-01

    In this study, we sought to investigate the oral microbiota structure of children with cleft lip and palate (CLP) and explore the pre-operative oral bacterial composition related to the prognosis of alveolar bone grafting. In total, 28 patients (19 boys, 9 girls) with CLP who were scheduled to undergo alveolar bone grafting for the first time were recruited. According to the clinical examination of operative sites at the third month after the operation, the individuals were divided into a non-inflammation group (n = 15) and an inflammation group (n = 13). In all, 56 unstimulated saliva samples were collected before and after the operation. The v3-v4 hypervariable regions of the 16S rRNA gene were sequenced using an Illumina MiSeq sequencing platform. Based on the beta diversity of the operational taxonomic units (OTUs) in the inflammation and non-inflammation samples, the microbial variation in the oral cavity differed significantly between the two groups before and after the operation (P < 0.05). Analysis of the relative abundances of pre-operative OTUs revealed 26 OTUs with a relative abundance higher than 0.01%, reflecting a significant difference of the relative abundance between groups (P < 0.05). According to a principal component analysis of the pre-operative samples, the inflammation-related OTUs included Tannerella sp., Porphyromonas sp., Gemella sp., Moraxella sp., Prevotella nigrescens, and Prevotella intermedia, most of which were enriched in the inflammation group and showed a significant positive correlation. A cross-validated random forest model based on the 26 different OTUs before the operation was able to fit the post-operative status of grafted sites and yielded a good classification result. The sensitivity and specificity of this classified model were 76.9% and 86.7%, respectively. These findings show that the oral microbiota profile before alveolar bone grafting may be related to the risk of post-operative inflammation at grafted sites. PMID

  17. Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate.

    PubMed

    Aylward, Alana; Cai, Yi; Lee, Andrew; Blue, Elizabeth; Rabinowitz, Daniel; Haddad, Joseph

    2016-07-01

    Studies suggest that nonsyndromic cleft lip and palate (NSCLP) is polygenic with variable penetrance, presenting a challenge in identifying all causal genetic variants. Despite relatively high prevalence of NSCLP among Amerindian populations, no large whole exome sequencing (WES) studies have been completed in this population. Our goal was to identify candidate genes with rare genetic variants for NSCLP in a Honduran population using WES. WES was performed on two to four members of 27 multiplex Honduran families. Genetic variants with a minor allele frequency > 1% in reference databases were removed. Heterozygous variants consistent with dominant disease with incomplete penetrance were ascertained, and variants with predicted functional consequence were prioritized for analysis. Pedigree-specific P-values were calculated as the probability of all affected members in the pedigree being carriers, given that at least one is a carrier. Preliminary results identified 3,727 heterozygous rare variants; 1,282 were predicted to be functionally consequential. Twenty-three genes had variants of interest in ≥3 families, where some genes had different variants in each family, giving a total of 50 variants. Variant validation via Sanger sequencing of the families and unrelated unaffected controls excluded variants that were sequencing errors or common variants not in databases, leaving four genes with candidate variants in ≥3 families. Of these, candidate variants in two genes consistently segregate with NSCLP as a dominant variant with incomplete penetrance: ACSS2 and PHYH. Rare variants found at the same gene in all affected individuals in several families are likely to be directly related to NSCLP. PMID:27229527

  18. Investigating Oral Microbiome Profiles in Children with Cleft Lip and Palate for Prognosis of Alveolar Bone Grafting.

    PubMed

    Liu, Luwei; Zhang, Qian; Lin, Jiuxiang; Ma, Lian; Zhou, Zhibo; He, Xuesong; Jia, Yilin; Chen, Feng

    2016-01-01

    In this study, we sought to investigate the oral microbiota structure of children with cleft lip and palate (CLP) and explore the pre-operative oral bacterial composition related to the prognosis of alveolar bone grafting. In total, 28 patients (19 boys, 9 girls) with CLP who were scheduled to undergo alveolar bone grafting for the first time were recruited. According to the clinical examination of operative sites at the third month after the operation, the individuals were divided into a non-inflammation group (n = 15) and an inflammation group (n = 13). In all, 56 unstimulated saliva samples were collected before and after the operation. The v3-v4 hypervariable regions of the 16S rRNA gene were sequenced using an Illumina MiSeq sequencing platform. Based on the beta diversity of the operational taxonomic units (OTUs) in the inflammation and non-inflammation samples, the microbial variation in the oral cavity differed significantly between the two groups before and after the operation (P < 0.05). Analysis of the relative abundances of pre-operative OTUs revealed 26 OTUs with a relative abundance higher than 0.01%, reflecting a significant difference of the relative abundance between groups (P < 0.05). According to a principal component analysis of the pre-operative samples, the inflammation-related OTUs included Tannerella sp., Porphyromonas sp., Gemella sp., Moraxella sp., Prevotella nigrescens, and Prevotella intermedia, most of which were enriched in the inflammation group and showed a significant positive correlation. A cross-validated random forest model based on the 26 different OTUs before the operation was able to fit the post-operative status of grafted sites and yielded a good classification result. The sensitivity and specificity of this classified model were 76.9% and 86.7%, respectively. These findings show that the oral microbiota profile before alveolar bone grafting may be related to the risk of post-operative inflammation at grafted sites. PMID

  19. Conference Report: International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate (AEC) Syndrome

    PubMed Central

    Fete, Mary; vanBokhoven, Hans; Clements, Suzanne; McKeon, Frank; Roop, Dennis R.; Koster, Maranke I.; Missero, Caterina; Attardi, Laura D.; Lombillo, Vivian A.; Ratovitski, Edward; Julapalli, Meena; Ruths, Derek; Sybert, Virginia P.; Siegfried, Elaine C.; Bree, Alanna F.

    2009-01-01

    Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the p63 gene, known to be a regulatory gene with many downstream gene targets. TP63 is important in the differentiation and proliferation of the epidermis, as well as many other processes including limb and facial development. It is also known that mutations in p63 lead to skin erosions. These erosions, especially on the scalp, are defining features of AEC syndrome and cause significant morbidity and mortality in these patients. It was this fact that led to the 2003 AEC Skin Erosion Workshop. That conference laid the groundwork for the International Research Symposium for AEC Syndrome held at Texas Children's Hospital in 2006. The conference brought together the largest cohort of individuals with AEC syndrome, along with a multitude of physicians and scientists. The overarching goals were to define the clinical and pathologic findings for improved diagnostic criteria, to obtain tissue samples for further study and to define future research directions. The symposium was successful in accomplishing these aims as detailed in this conference report. Following our report, we also present eleven manuscripts within this special section that outline the collective clinical, pathologic and mutational data from eighteen individuals enrolled in the concurrent Baylor College of Medicine IRB-approved protocol: Characterization of AEC syndrome. These collaborative findings will hopefully provide a stepping stone to future translational projects of p63 and p63-related syndromes. PMID:19353643

  20. A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate

    PubMed Central

    Rezek, Regina Ferreira; Rodrigues Abbas, Ana Angélica; Forte Mazzeu, Juliana; Duarte Miranda, Siliana Maria; Velloso-Rodrigues, Cibele

    2014-01-01

    We present a rare case of 8q interstitial duplication derived from maternal balanced translocations in a patient with bilateral cleft lip and palate in syndromic form associated with other congenital malformations. G-banding cytogenetic analysis revealed a chromosomal abnormality in the form of the karyotype 46,XX der(22)t(8;22)(q22.1;p11.1)mat. Chromosome microarray analysis evidenced a 49 Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. Two siblings also carry the balanced translocation. We have compared this case with other “pure” trisomies of 8q patients reported in the literature and with genome wide association studies recently published. This work highlights the involvement of chromosome 8q in orofacial clefts. PMID:25506438

  1. A roentgen stereophotogrammetric study of implant stability and movement of segments in the maxilla of infants with cleft lip and palate.

    PubMed

    Rune, B; Jacobsson, S; Sarnäs, K V; Selvik, G

    1979-07-01

    Three implants (tantalum pins 1.5 x 0.5 mm) were inserted in each lateral segment of the cleft maxilla of ten infants aged three to 33 months. To check the stability of the implants in the bone the distances between the three implants within each segment were measured by means of roentgen stereophotogrammetry (accuracy 0.05 mm) at intervals of 7, 35, 63, 147, and 287 days after initial examination and at varying intervals thereafter (maximal observation time 833 days). No implants were lost and 18 of 60 measured distances were stable (final changes less than 0.2 mm). The three implants were regarded as a rigid-body model which represented the segment in the calculations of motion. In all infants with complete clefts, transverse narrowing occurred immediately after primary closure of the lip, or primary palate repair, while subsequent movement followed individual patterns.

  2. Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate

    PubMed Central

    Leslie, Elizabeth J.; Arzi, Boaz; Willet, Cali E.; Cox, Timothy C.; McHenry, Toby; Narayan, Nicole; Feingold, Eleanor; Wang, Xioajing; Sliskovic, Saundra; Karmi, Nili; Safra, Noa; Sanchez, Carla; Deleyiannis, Frederic W. B.; Murray, Jeffrey C.; Wade, Claire M.; Marazita, Mary L.; Bannasch, Danika L.

    2015-01-01

    Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10-13; adjusted p= 2.2 x 10-3). Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 – 10.73 Mb) segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS) in 13 cases. Whole-genome sequencing of 3 CLPS cases and 4 controls at 15X coverage led to the discovery of a frameshift mutation within ADAMTS20 (c.1360_1361delAA (p.Lys453Ilefs*3)), which segregated concordant with the phenotype. In a parallel study in humans, a family-based association analysis (DFAM) of 125 CL/P cases, 420 unaffected relatives, and 392 controls from a Guatemalan cohort, identified a suggestive association (rs10785430; p =2.67 x 10-6) with the same gene, ADAMTS20. Sequencing of cases from the Guatemalan cohort was unable to identify a causative mutation within the coding region of ADAMTS20, but four coding variants were found in additional cases of CL/P. In summary, this study provides genetic evidence for a role of ADAMTS20 in CL/P development in dogs and as a candidate gene for CL/P development in humans. PMID:25798845

  3. Alveolar bone grafting in association with polyostotic fibrous dysplasia and bisphosphonate-induced abnormal bone turnover in a bilateral cleft lip and palate patient: a case report.

    PubMed

    Kodama, Yasumitsu; Ogose, Akira; Oguri, Yoshimitsu; Ubaidus, Sobhan; Iizuka, Tateyuki; Takagi, Ritsuo

    2012-09-01

    A case is presented of extensive alveolar bone grafting in a patient with bilateral cleft lip and palate and polyostotic fibrous dysplasia. The patient previously underwent bisphosphonate therapy. Because of an abnormal and often decreased bone turnover caused by the fibrous dysplasia and the bisphosphonate therapy, bone grafting in such a patient poses several potential difficulties. In addition, the histomorphometric analysis of the bone grafts showed markedly decreased bone turnover. However, alveolar bone grafting using the iliac crest was performed successfully. Sufficient occlusion was achieved by postoperative low-loading orthodontic treatment.

  4. Early orthodontic intervention followed by fixed appliance therapy in a patient with a severe Class III malocclusion and cleft lip and palate.

    PubMed

    Zhang, He; Deng, Feng; Wang, Huaqiao; Huang, Qianqian; Zhang, Yi

    2013-11-01

    This case report describes the treatment of a girl, age 11 years 10 months, with a cleft lip and palate and a postsurgical scar. The clinical examination showed a concave profile, a retrusive maxilla, an asymmetric face, severe dental crowding, a Class III dental relationship, and a complete dental crossbite. Maxillary expansion and distraction, chincap, and high-pull headgear were used to moderate the skeletal discrepancy. These approaches, combined with tooth extraction and fixed orthodontic appliances, finally established a functional and esthetic occlusal relationship, normal overjet and overbite, and a well-balanced facial appearance.

  5. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP) - Part 5: Institutional outcomes assessment and the role of the Laboratory of Physiology

    PubMed Central

    FREITAS, José Alberto de Souza; TRINDADE-SUEDAM, Ivy Kiemle; GARIB, Daniela Gamba; NEVES, Lucimara Teixeira das; de ALMEIDA, Ana Lúcia Pompéia Fraga; YAEDÚ, Renato Yassukata Faria; OLIVEIRA, Thaís Marchini; SOARES, Simone; LAURIS, Rita de Cássia Moura Carvalho; YAMASHITA, Renata Paciello; TRINDADE JR, Alceu Sergio; TRINDADE, Inge Elly Kiemle; PINTO, João Henrique Nogueira

    2013-01-01

    The Laboratory of Physiology provides support for the diagnosis of functional disorders associated with cleft lip and palate and also conducts studies to assess, objectively, the institutional outcomes, as recommended by the World Health Organization. The Laboratory is conceptually divided into three units, namely the Unit for Upper Airway Studies, Unit for Stomatognathic System Studies and the Unit for Sleep Studies, which aims at analyzing the impact of different surgical and dental procedures on the upper airways, stomatognathic system and the quality of sleep of individuals with cleft lip and palate. This paper describes the main goals of the Laboratory in the assessment of procedures which constitute the basis of the rehabilitation of cleft lip and palate, i.e., Plastic Surgery, Orthodontics and Maxillofacial Surgery and Speech Pathology. PMID:24037080

  6. Oral Health in 4-6 Years Children with Cleft Lip/Palate: A Case Control Study

    PubMed Central

    Chopra, Amandeep; Lakhanpal, Manav; Rao, Nanak Chand; Gupta, Nidhi; Vashisth, Shelja

    2014-01-01

    Background: Oro-facial clefts are a major public health problem. Children with clefts rarely escape dental complications. Aims: This study was to determine differences in the dental caries experience, gingival health, and prevalence malocclusion, enamel defects and oral mucosal lesions among 4-6 year old children with and without cleft in Panchkula. Materials and Methods: The sampling frame consisted of 4-6 year old children with clefts visiting Swami Devi Dyal Hospital and Dental College, Panchkula, India. As a control group an age (±3 months) and gender-matched sample from the same geographical areas were recruited. Dental caries status, gingival health status, developmental defect of enamel, malocclusion and oral mucosal health were assessed and compared between the two groups. Results: Significant differences in dental caries and gingival health status were found between children with and without cleft. Anterior open-bite, increased overjet and oral mucosal lesions (P < 0.05) were more prevalent among children with clefts. Children with and without clefts had similar developmental defects of enamel (P > 0.05). Conclusion: Differences of oral health status exist among 4-6 year old children with and without clefts. Children fare worse in terms of dental caries, gingival health, oral mucosal health and malocclusion. PMID:25006561

  7. Bilateral Infraorbital Nerve Block Versus Intravenous Pentazocine: A Comparative Study on Post-operative Pain Relief Following Cleft Lip Surgery

    PubMed Central

    Grewal, Gurpreeti; Grewal, Anju

    2015-01-01

    Background and Objectives Infra orbital nerve block is utilized for postoperative pain control in children undergoing cleft lip repair. This study was conducted to compare the effectiveness, advantages and disadvantages of infra orbital nerve block and opioids for postoperative pain relief following cheiloplasty. Materials and Methods Sixty paediatric patients aged 3 months – 13 years undergoing cheiloplasty were selected by simple random sampling and were divided into two groups. All the children received standardized premedication with midazolam, were operated upon under general anaesthesia and the block was performed at the end of surgery before reversal. Group B patients were administered bilateral infra orbital nerve block with 0.25% Bupivacaine (upto 2 mg/kg). Group O patients received Pentazocine 0.5 mg / kg IV. Postoperatively, the heart rate and respiratory rates were recorded every 15 minutes for the first 60 minutes, half hourly till 4 hours and then at 12 and 24 hours. Behavioural assessment for pain / discomfort was done at intervals of ½, 1, 2, 3, 4, 12 and 24 hours. Need for supplementary analgesics and duration between the administration of block/opioid and the first dose of supplementary analgesics were noted. Side effects such as nausea and vomiting, pruritus, respiratory depression and bradycardia during each of these periods were noted. Results Both the groups were comparable for age, sex, weight and operative time with no statistical difference. The mean duration of analgesia for infra orbital nerve block was 357.5 minutes i.e. 5 hours 58 minutes and that for opioid was 231 minutes i.e. 3 hours 51 minutes which was significantly lower than the hours of analgesia provided by the block. Further, at the 4th hour, 76.6% of the patients in Group O required supplementary analgesics, in contrast to only 16.6% in Group B. The incidence of nausea and vomiting and pruritus was also higher in Group O. Conclusion The results indicate that bilateral

  8. Association between polymorphism of TGFA Taq I and cleft Lip and/or palate: a meta-analysis

    PubMed Central

    2014-01-01

    Background Cleft lip and palate (CL/P) is one of the most common malformations in humans. Transforming growth factor alpha (TGFA) is a well characterized mammalian growth factor which might contribute to the development of CL/P. This meta-analysis aimed to summarize the association between the TGFA Taq I polymorphisms and CL/P. Methods We retrieved the relevant articles from PubMed, EMBASE, ISI Web of Science and SCOPUS databases. Studies were selected using specific inclusion and exclusion criteria. The odds ratios (ORs) and their 95% confidence intervals (95% CIs) were calculated to assess the association between TGFA Taq I polymorphism and CL/P risk. Meta-analyses were performed on the total data set and separately for the major ethnic groups, disease type and source of control. All analyses were performed using the Stata software. Results Twenty articles were included in the present analysis. There is a significant association between the TGFA Taq I polymorphism and CL/P (C1C2 vs C1C1: OR = 1.67, 95% CI = 1.23-2.25, C2C2 + C1C2 vs C1C1C1: OR = 1.52, 95% CI = 1.15-2.01; C2 vs C1:OR = 1.41, 95% CI = 1.12-1.78). Stratified analyses suggested that the TGFA Taq I polymorphism was significantly associated with CL/P in Caucasians (C1C2 vs C1C1: OR = 1.95, 95% CI = 1.34-2.86; C2C2 + C1C2 vs C1C1: OR = 1.68, 95% CI = 1.18-2.38; C2 vs V1: OR = 1.52, 95% CI = 1.14 -2.02). Conclusion TGFA Taq I polymorphism may be associated with the risk of CL/P. PMID:25015300

  9. Influence of propolis on hygiene, gingival condition, and oral microflora in patients with cleft lip and palate treated with fixed orthodontic appliances.

    PubMed

    Machorowska-Pieniążek, Agnieszka; Morawiec, Tadeusz; Mertas, Anna; Tanasiewicz, Marta; Dziedzic, Arkadiusz; Król, Wojciech

    2013-01-01

    The aim of this study was to evaluate the influence of 3% ethanol extract of propolis (EEP) on hygiene, gingival and microbiological status of oral cavity in patients with cleft lip and palate treated with fixed orthodontic appliances. The study included forty-one nonsyndromic complete unilateral of bilateral cleft lip and palate subjects with fixed appliance on at least 10 teeth. Twenty-one subjects were instructed to brush their teeth three times a day using toothpaste with propolis. Control group included twenty subjects who were asked to brush their teeth three times a day using a toothpaste without propolis. API, OPI, GI, and supragingival bacterial plaque were taken from each subject twice: baseline and after using the toothpaste for 35 days. The final examinations showed statistically significant decrease in OPI, GI, and the percentage of the Actinomyces spp. and Capnocytophaga spp. compared with baseline in propolis group subjects. The improvement in oral health in these patients confirms antibacterial, anti-inflammatory, and regenerative properties of propolis. PMID:23762106

  10. Influence of Propolis on Hygiene, Gingival Condition, and Oral Microflora in Patients with Cleft Lip and Palate Treated with Fixed Orthodontic Appliances

    PubMed Central

    Machorowska-Pieniążek, Agnieszka; Morawiec, Tadeusz; Tanasiewicz, Marta; Król, Wojciech

    2013-01-01

    The aim of this study was to evaluate the influence of 3% ethanol extract of propolis (EEP) on hygiene, gingival and microbiological status of oral cavity in patients with cleft lip and palate treated with fixed orthodontic appliances. The study included forty-one nonsyndromic complete unilateral of bilateral cleft lip and palate subjects with fixed appliance on at least 10 teeth. Twenty-one subjects were instructed to brush their teeth three times a day using toothpaste with propolis. Control group included twenty subjects who were asked to brush their teeth three times a day using a toothpaste without propolis. API, OPI, GI, and supragingival bacterial plaque were taken from each subject twice: baseline and after using the toothpaste for 35 days. The final examinations showed statistically significant decrease in OPI, GI, and the percentage of the Actinomyces spp. and Capnocytophaga spp. compared with baseline in propolis group subjects. The improvement in oral health in these patients confirms antibacterial, anti-inflammatory, and regenerative properties of propolis. PMID:23762106

  11. A longitudinal three-center study of craniofacial morphology at 6 and 12 years of age in patients with complete bilateral cleft lip and palate.

    PubMed

    Bartzela, Theodosia; Katsaros, Christos; Rønning, Elisabeth; Rizell, Sara; Semb, Gunvor; Bronkhorst, Ewald; Halazonetis, Demetrios; Kuijpers-Jagtman, Anne Marie

    2012-08-01

    In this longitudinal study, the craniofacial morphology and evaluated soft tissue profile changes, at 6 and 12 years of age in patients with complete bilateral cleft lip and palate (CBCLP) were compared. Lateral cephalograms from 148 patients with CBCLP, treated consecutively at three European cleft centers, Gothenburg (n (A) = 37), Nijmegen (n (B) = 26), and Oslo (n (C) = 85), were evaluated. Eighteen hard tissue and ten soft tissue landmarks were digitized. Paired t test, Pearson's correlation coefficients, and multiple regression models were applied for statistical analysis. ANOVA and Tukey-B, as a post hoc test, were used to evaluate the increments and compare centers. Hard and soft tissue data were superimposed using the generalized Procrustes analysis. For Nijmegen, the increments of the variables SNA, ANB, SN-NL, SN-ML, NL-ML, Snss, and Snpg were significantly different than the two other centers (p = 0.041 to <0.001). SNPg increments were significantly different between Nijmegen and Oslo (p = 0.002). The three cleft centers followed different treatment protocols, but the main differences in craniofacial morphology until 12 years of age were the growth pattern and the maxillary and upper incisor variables. Follow-up of these patients until facial growth has ceased, which may elucidate components for improving treatment outcome.

  12. Cleft Lip and Palate

    MedlinePlus

    ... from surgery, coping with speech problems, or improving self-esteem. Some teens join support groups or online forums where they can talk to ... Parents MORE ON THIS TOPIC Hearing Impairment Speech Problems ...

  13. Cleft palate repair in Mongolia: Modified palatoplasty vs. conventional technique

    PubMed Central

    Gongorjav, N. Ayanga; Luvsandorj, Davaanyam; Nyanrag, Purevjav; Garidhuu, Ariuntuul; Sarah, E. Gardiner

    2012-01-01

    Context: Cleft palate repair is preferentially completed between 6 and 18 months of age, facilitating essential speech and language development along with swallowing and feeding reflexes, and avoiding otitis media and hearing loss. In Mongolia patients often present in early adulthood for cleft lip and/or palate management. Wider defects are associated with older age groups and have higher rates of fistula formation and wound dehiscence. These complications encouraged a modified surgical technique for improved outcomes. Aims: Objectives of this study were to compare the efficacy of three established palatoplasty techniques with our mongolian technique. Materials and Methods: A retrospective review of all palatoplasty cases, in non-syndromic cleft lip and/or palate patients, between January 1992 and November 2008 in Ulaanbaatar, Mongolia was performed. Exclusion criteria included those suffering from an acute or chronic respiratory illness at presentation or in the recovery period. We compared three established techniques with our modified technique. Outcome measures were duration of surgery, length of hospital stay and fistula rate. Statistical Analysis Used: Discrete data are reported as n (%), while continuous data are summarised as mean±SD. Differences in demographic, surgical and postoperative data were tested by independent t-test (continuous data) and Fisher's exact test (discrete data). Results: Palatoplasty was performed on 436 patients with an average age of 60 months. The modified palatoplasty technique had reduced surgical time (P value <0.01) and hospital stay (P value <0.01) and a 96% complication free wound recovery, compared with established techniques. Cleft lip and/or palate patients aged 42 months or older were more likely to be from the countryside. Conclusions: 86.9% of patients presenting for cleft palate repair had palatoplasty later than the recommended age. Geographical predilection for children older than six years, were more likely to

  14. Feeding Infants With Cleft Lip and/or Palate in Brazil: Suggestions to Improve Health Policy and Research.

    PubMed

    Gil-da-Silva-Lopes, Vera Lúcia; Xavier, Ana Carolina; Klein-Antunes, Denise; Ferreira, Ana Carolina R G; Tonocchi, Rita; Fett-Conte, Agnes C; Silva, Raquel N; Leirião, Vera H V; Caramori, Lázara P C; Magna, Luiz A; Amstalden-Mendes, Lívia G

    2013-09-01

    Objective : To verify feeding resources used prior to corrective surgery among cleft babies from Brazil and to discuss suggestions to improve common feeding problems around the world. Design : Cross-sectional descriptive study conducted at eight medical centers. Participants : A total of 215 parents or guardians of cleft children. Methods : Interview based upon a prevalidated questionnaire. The chi-square test and comparison of means by analysis of variance were used; significance level adopted was 5% (P < .05). Results : Feeding guidelines were provided in the maternity unit to 53% of the families. Breast-feeding was encouraged among 80% of mothers, predominantly in the South (P = .016). However, follow-up after maternity discharge was not appropriately carried out and failure to breast-feed occurred in 78% of families. The feeding tube was used in 21%. According to families, for those who used the ordinary nipple, it was considered the best option by the majority (29%). Conclusion : Neonatal feeding in cleft babies is a global challenge. Reports about the difficulties encountered and successful experiences would be helpful to disseminate strategies and stimulate research directed at the large-scale applicability of neonatal feeding for cleft babies on public health. This study detected the need to increase professional training and emphasizes the need for public policies addressing neonatal referral to specialized care wherever possible. It also stimulates research into using an ordinary nipple as another resource for feeding cleft babies and suggests an international discussion about specific recommendations for humanized primary health care.

  15. Repair of complete bilateral cleft lip with severely protruding premaxilla performing a premaxillary setback and vomerine ostectomy in one stage surgery

    PubMed Central

    Sanchez-Sanchez, Marta; Iglesias-Martin, Fernando; Garcia-Perla-Garcia, Alberto; Belmonte-Caro, Rodolfo; Gonzalez-Perez, Luis-Miguel

    2015-01-01

    a single-stage surgery, a good primary lip repair at our center. Further confirmations of this surgery with follow up and anthropometric studies of these patients during childhood and adolescence are required. Key words: Protruding premaxilla, bilateral cleft lip, vomerine ostectomy, one stage surgery, Millard II technique. PMID:26034932

  16. Suprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique new syndrome.

    PubMed

    Sever, Alysse J; Koets, Michael D; Sabharwal, Gauravi K

    2015-12-01

    A male infant was born with a bilateral cleft lip and/or palate, absent nasal structures, left anophthalmos, right coloboma, and bilateral fifth digit clinodactly. Brain magnetic resonance imaging revealed severe asymmetric hydrocephalus, absent corpus callosum, a suprasellar mass with a high riding third ventricle, and no pituitary gland. He had a normal male karyotype and normal prenatal laboratory testing. He had no significant family history and no renal, vertebral, gastrointestinal, or cardiac malformations. This combination of central nervous system findings, ocular and craniofacial abnormalities, a normal karyotype, and limited skeletal abnormalities to our knowledge has only been previously described once in the literature in association with a disruption in Pax and Sonic Hedgehog protein pathways, and we conclude this patient represents a variant of this described syndrome.

  17. Suprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique new syndrome

    PubMed Central

    Sever, Alysse J.; Koets, Michael D.; Sabharwal, Gauravi K.

    2015-01-01

    A male infant was born with a bilateral cleft lip and/or palate, absent nasal structures, left anophthalmos, right coloboma, and bilateral fifth digit clinodactly. Brain magnetic resonance imaging revealed severe asymmetric hydrocephalus, absent corpus callosum, a suprasellar mass with a high riding third ventricle, and no pituitary gland. He had a normal male karyotype and normal prenatal laboratory testing. He had no significant family history and no renal, vertebral, gastrointestinal, or cardiac malformations. This combination of central nervous system findings, ocular and craniofacial abnormalities, a normal karyotype, and limited skeletal abnormalities to our knowledge has only been previously described once in the literature in association with a disruption in Pax and Sonic Hedgehog protein pathways, and we conclude this patient represents a variant of this described syndrome. PMID:26649128

  18. Three-dimensional comparison between the palatal forms in infants with complete unilateral cleft lip, alveolus, and palate (UCLP) with and without Hotz's plate.

    PubMed

    Mishima, K; Sugahara, T; Mori, Y; Sakuda, M

    1996-05-01

    A three-dimensional measuring system was developed to analyze changes in palatal forms of UCLP infants. This system quantified the change of the curved surface on a palate by automatically superimposing two wireframe models obtained from casts at different stages of growth. It also analyzed the curvature of the palatal surface. This system was used to study the palates of 20 infants with unilateral cleft lip and palate (UCLP), from the first to fourth months after birth (12 with Hotz's plate and 8 without, selected at random). Both major and lesser maxillary segments without Hotz's plate remained anterior and lateral although those with Hotz's plate moved mesially during the fourth month after birth. In addition, the degrees of curvature on the palatal surfaces with Hotz's plate were less than those without Hotz's plate.

  19. Three-dimensional comparison between the palatal forms in infants with complete unilateral cleft lip, alveolus, and palate (UCLP) with and without Hotz's plate.

    PubMed

    Mishima, K; Sugahara, T; Mori, Y; Sakuda, M

    1996-01-01

    A three-dimensional measuring system was developed to analyze changes in palatal forms of UCLP infants. This system quantified the change of the curved surface on a palate by automatically superimposing two wireframe models obtained from casts at different stages of growth. It also analyzed the curvature of the palatal surface. This system was used to study the palates of 20 infants with unilateral cleft lip and palate (UCLP), from the first to fourth months after birth (12 with Hotz's plate and 8 without, selected at random). Both major and lesser maxillary segments without Hotz's plate remained anterior and lateral although those with Hotz's plate moved mesially during the fourth month after birth. In addition, the degrees of curvature on the palatal surfaces with Hotz's plate were less than those without Hotz's plate.

  20. Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients.

    PubMed

    Sutton, V Reid; Plunkett, Katie; Dang, Diane X; Lewis, Richard A; Bree, Alanna F; Bacino, Carlos A

    2009-09-01

    Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome are well-characterized clinical entities caused by mutations in the TP63 gene. While AEC and Rapp-Hodgkin had been thought to be clinically distinct entities, the elucidation of their molecular etiology confirmed that they are a clinical continuum as opposed to distinct disorders. We have evaluated 17 patients with AEC syndrome using a systematic clinical approach. In our study, we have identified new features and others that were thought to occur only rarely. These include short stature and poor weight gain with preservation of head circumference in nearly all subjects, trismus in 35% and hypospadias in 78% of males. In addition, we describe the frequency of phenotypic features and demonstrate the extreme clinical variability in the largest cohort of AEC individuals reported in the literature thus far.

  1. Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.

    PubMed

    Leslie, Elizabeth J; Taub, Margaret A; Liu, Huan; Steinberg, Karyn Meltz; Koboldt, Daniel C; Zhang, Qunyuan; Carlson, Jenna C; Hetmanski, Jacqueline B; Wang, Hang; Larson, David E; Fulton, Robert S; Kousa, Youssef A; Fakhouri, Walid D; Naji, Ali; Ruczinski, Ingo; Begum, Ferdouse; Parker, Margaret M; Busch, Tamara; Standley, Jennifer; Rigdon, Jennifer; Hecht, Jacqueline T; Scott, Alan F; Wehby, George L; Christensen, Kaare; Czeizel, Andrew E; Deleyiannis, Frederic W-B; Schutte, Brian C; Wilson, Richard K; Cornell, Robert A; Lidral, Andrew C; Weinstock, George M; Beaty, Terri H; Marazita, Mary L; Murray, Jeffrey C

    2015-03-01

    Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and European trios, and carried out a series of statistical and functional analyses. Within a cluster of strongly associated common variants near NOG, we found that one, rs227727, disrupts enhancer activity. We furthermore identified significant clusters of non-coding rare variants near NTN1 and NOG and found several rare coding variants likely to affect protein function, including four nonsense variants in ARHGAP29. We confirmed 48 de novo mutations and, based on best biological evidence available, chose two of these for functional assays. One mutation in PAX7 disrupted the DNA binding of the encoded transcription factor in an in vitro assay. The second, a non-coding mutation, disrupted the activity of a neural crest enhancer downstream of FGFR2 both in vitro and in vivo. This targeted sequencing study provides strong functional evidence implicating several specific variants as primary contributory risk alleles for nonsyndromic clefting in humans.

  2. Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci

    PubMed Central

    Leslie, Elizabeth J.; Taub, Margaret A.; Liu, Huan; Steinberg, Karyn Meltz; Koboldt, Daniel C.; Zhang, Qunyuan; Carlson, Jenna C.; Hetmanski, Jacqueline B.; Wang, Hang; Larson, David E.; Fulton, Robert S.; Kousa, Youssef A.; Fakhouri, Walid D.; Naji, Ali; Ruczinski, Ingo; Begum, Ferdouse; Parker, Margaret M.; Busch, Tamara; Standley, Jennifer; Rigdon, Jennifer; Hecht, Jacqueline T.; Scott, Alan F.; Wehby, George L.; Christensen, Kaare; Czeizel, Andrew E.; Deleyiannis, Frederic W.-B.; Schutte, Brian C.; Wilson, Richard K.; Cornell, Robert A.; Lidral, Andrew C.; Weinstock, George M.; Beaty, Terri H.; Marazita, Mary L.; Murray, Jeffrey C.

    2015-01-01

    Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and European trios, and carried out a series of statistical and functional analyses. Within a cluster of strongly associated common variants near NOG, we found that one, rs227727, disrupts enhancer activity. We furthermore identified significant clusters of non-coding rare variants near NTN1 and NOG and found several rare coding variants likely to affect protein function, including four nonsense variants in ARHGAP29. We confirmed 48 de novo mutations and, based on best biological evidence available, chose two of these for functional assays. One mutation in PAX7 disrupted the DNA binding of the encoded transcription factor in an in vitro assay. The second, a non-coding mutation, disrupted the activity of a neural crest enhancer downstream of FGFR2 both in vitro and in vivo. This targeted sequencing study provides strong functional evidence implicating several specific variants as primary contributory risk alleles for nonsyndromic clefting in humans. PMID:25704602

  3. Extraoral traction to the maxilla with face mask: a follow-up of 17 consecutively treated patients with and without cleft lip and palate.

    PubMed

    Sarnäs, K V; Rune, B

    1987-04-01

    Lateral cephalometric films of seven cleft palate (CP) or unilateral cleft lip and palate (UCLP) and ten nonCLP patients were obtained immediately before extraoral traction with face mask, immediately after, and at 6 months follow-up. The mean age at start of treatment was 7 years for the CLP patients and 11 years for the nonCLP patients. The average duration of traction was 8 months in both groups. The traction force was gradually increased from 300 to 800 g on each side. Five angular measurements were defined and recorded. The mean net effect in anterior displacement of the maxilla in the CLP group was +0.2 degrees (range +2.5 degrees to -2.5 degrees) and in the nonCLP group +1.0 degree (range +2.5 degrees to -1.0 degree). The orthopaedic effect of extraoral traction to the maxilla was found to be independent of skeletal morphology, age, peak height velocity (PHV), and duration of traction, and thus to be unpredictable. Normal overjet was obtained in most patients, because of a combination of anterior displacement of the maxilla, posterior displacement of the mandible, tipping of the incisors, and a possible anterior sliding of the maxillary dental arch on its base.

  4. Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate.

    PubMed

    Blanton, Susan H; Bertin, Terry; Serna, Maria E; Stal, Samuel; Mulliken, John B; Hecht, Jacqueline T

    2004-02-15

    Approximately 4,000 babies with nonsyndromic cleft lip with or without cleft palate (NSCLP) are born each year in the United States. Because NSCLP exhibits both etiologic and genetic heterogeneity, attempts to identify the underlying genetic causes have met with limited success and the pursuit of early promising findings have yielded mixed results. Two recent genomic scans identified a number of suggestive regions; some of these results have been supported by our lab and others in subsequent studies. Using our NSCLP multiplex family population, we were able to provide additional supportive evidence for association to the regions 2q37, 11p12-14, 12q13, and 16p13.11-p12 that were identified in the genomic scans. However, there remains a number of additional viable candidate genes and regions that have not been sufficiently investigated. These include chromosomal translocations in patients with NSCLP, growth factor genes, metalloproteinase (MMP) and transcription factor (patterning) genes, including those in the WNT family. Here, we present results from screening the 10p13 chromosomal translocation region associated with NSCLP, MMP genes clustered on chromosomes 1p36, 11q22.3, 16p13.3, and 16q12-13, and the region containing the WNT5A gene on chromosome 3p21. Markers from three of the regions, 10p13, 16p13.3 (MMP25), and 3p21.2, yielded findings that are sufficiently significant to warrant closer investigation.

  5. A Multicenter Study Using the SWAG Scale to Compare Secondary Alveolar Bone Graft Outcomes for Patients With Cleft Lip and Palate.

    PubMed

    Russell, Kathleen; Long, Ross E; Daskalogiannakis, John; Mercado, Ana; Hathaway, Ronald; Semb, Gunvor; Shaw, William

    2016-03-01

    Objective To assess secondary alveolar bone graft (ABG) outcomes using the standardized way to assess grafts, or SWAG scale, for patients with cleft lip and palate (CLP). Design Retrospective cohort study. Setting Four cleft centers with different protocols. Methods One hundred sixty maxillary occlusal radiographs taken 3 to 18 months after secondary ABG for sequentially treated patients with CLP were assessed using the SWAG scale. Radiographs were scanned, standardized, blinded, and rated by six orthodontists using the SWAG scale. Randomized radiographs were rated twice, 24 hours apart, by the same raters. Main Outcomes Intrarater and interrater reliabilities were assessed. Means and SDs were calculated for ABG ratings using analysis of variance and Tukey tests (P < .05). Result The mean ABG age was 9.1 years (range = 7 to 10.1 years) and the mean follow-up age was 12.4 years (range = 8.2 to 20.4 years). Intrarater and interrater reliabilities were good (intrarater = 0.788, interrater = 0.705), and higher than published methods. Mean ABG ratings for the cleft centers were 4.53, 2.9, 3.63, and 5.0 and differed significantly. The two centers with the highest ABG ratings showed higher ratings for all thirds decreasing from apical to coronal. The two centers with lower ABG ratings showed poorer ABG ratings for all thirds, and the middle third received the highest ratings. Conclusions The SWAG scale overcomes the challenges of age and bone location. The SWAG method was validated for showing intercenter differences for overall bone fill as well as in vertical thirds. Surgical technique, timing, and expertise/volume were identified as possible factors related to outcome.

  6. The cleft team social worker.

    PubMed

    Kaye, Alison; Lybrand, Sandra

    2016-04-01

    The birth of a child with significant medical problems poses challenges for most families. Congenital orofacial clefting is a common condition affecting families worldwide. Orofacial clefting requires long-term medical care and can affect multiple body systems. Having a child with a chronic medical condition such as cleft lip or palate creates many psychosocial ramifications for a family. This article describes the importance of medical social work involvement in the coordinated care for children with cleft lip and palate. Specific cases spanning prenatal care through adolescence are used to highlight the variety of complex psychosocial situations encountered in the multidisciplinary cleft team setting.

  7. A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1.

    PubMed

    Lidral, Andrew C; Liu, Huan; Bullard, Steven A; Bonde, Greg; Machida, Junichiro; Visel, Axel; Uribe, Lina M Moreno; Li, Xiao; Amendt, Brad; Cornell, Robert A

    2015-07-15

    Three common diseases, isolated cleft lip and cleft palate (CLP), hypothyroidism and thyroid cancer all map to the FOXE1 locus, but causative variants have yet to be identified. In patients with CLP, the frequency of coding mutations in FOXE1 fails to account for the risk attributable to this locus, suggesting that the common risk alleles reside in nearby regulatory elements. Using a combination of zebrafish and mouse transgenesis, we screened 15 conserved non-coding sequences for enhancer activity, identifying three that regulate expression in a tissue specific pattern consistent with endogenous foxe1 expression. These three, located -82.4, -67.7 and +22.6 kb from the FOXE1 start codon, are all active in the oral epithelium or branchial arches. The -67.7 and +22.6 kb elements are also active in the developing heart, and the -67.7 kb element uniquely directs expression in the developing thyroid. Within the -67.7 kb element is the SNP rs7850258 that is associated with all three diseases. Quantitative reporter assays in oral epithelial and thyroid cell lines show that the rs7850258 allele (G) associated with CLP and hypothyroidism has significantly greater enhancer activity than the allele associated with thyroid cancer (A). Moreover, consistent with predicted transcription factor binding differences, the -67.7 kb element containing rs7850258 allele G is significantly more responsive to both MYC and ARNT than allele A. By demonstrating that this common non-coding variant alters FOXE1 expression, we have identified at least in part the functional basis for the genetic risk of these seemingly disparate disorders.

  8. A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1

    PubMed Central

    Lidral, Andrew C.; Liu, Huan; Bullard, Steven A.; Bonde, Greg; Machida, Junichiro; Visel, Axel; Uribe, Lina M. Moreno; Li, Xiao; Amendt, Brad; Cornell, Robert A.

    2015-01-01

    Three common diseases, isolated cleft lip and cleft palate (CLP), hypothyroidism and thyroid cancer all map to the FOXE1 locus, but causative variants have yet to be identified. In patients with CLP, the frequency of coding mutations in FOXE1 fails to account for the risk attributable to this locus, suggesting that the common risk alleles reside in nearby regulatory elements. Using a combination of zebrafish and mouse transgenesis, we screened 15 conserved non-coding sequences for enhancer activity, identifying three that regulate expression in a tissue specific pattern consistent with endogenous foxe1 expression. These three, located −82.4, −67.7 and +22.6 kb from the FOXE1 start codon, are all active in the oral epithelium or branchial arches. The −67.7 and +22.6 kb elements are also active in the developing heart, and the −67.7 kb element uniquely directs expression in the developing thyroid. Within the −67.7 kb element is the SNP rs7850258 that is associated with all three diseases. Quantitative reporter assays in oral epithelial and thyroid cell lines show that the rs7850258 allele (G) associated with CLP and hypothyroidism has significantly greater enhancer activity than the allele associated with thyroid cancer (A). Moreover, consistent with predicted transcription factor binding differences, the −67.7 kb element containing rs7850258 allele G is significantly more responsive to both MYC and ARNT than allele A. By demonstrating that this common non-coding variant alters FOXE1 expression, we have identified at least in part the functional basis for the genetic risk of these seemingly disparate disorders. PMID:25652407

  9. Impact of Sleep and Breathing in Infancy on Outcomes at Three Years of Age for Children with Cleft Lip and/or Palate

    PubMed Central

    Smith, Courtney B.; Walker, Karen; Badawi, Nadia; Waters, Karen A.; MacLean, Joanna E.

    2014-01-01

    Study Objectives: To evaluate the relationship between sleep disordered breathing (SDB) in early infancy and outcomes at 3 years of age in children with cleft lip and/or palate (CL/P). Design: Observational follow-up study. Setting: Multidisciplinary CL/P clinic, tertiary centre. Participants: Children with CL/P who participated in a study of sleep and breathing in infancy. Measurements and Results: The families of 52 children were approached for this follow-up study. The children underwent neurocognitive (Bayley Scales of Infant and Toddler Development, Third Edition; BSID-III), quality of life (Infant/Toddler Quality of Life Questionnaire; ITQOL), and growth assessments at 3 years. The families of 33 children (66%) completed follow-up at 36.7 ± 1.4 months. The apnea-hypopnea index (AHI) in infancy was 23.9 ± 18.0 events/h. Mean group BSID-III scores fell within the standardized normal range (10 ± 3) for all domains; however, language scores were lower than control children. Quality of life scores and growth parameter z-scores were similar to published control data. PSG variables in infancy showed significant relationships with outcomes at 3 years of age; lower percentage of AS/REM sleep was associated with lower cognition score; more obstructive events were associated with lower global behavior ITQOL score; and higher number of respiratory events in infancy was associated with lower weight z-score. Conclusion: Neurocognition, quality of life, and growth measures from children with CL/P fall within a normal range; however, scores in the language domain are lower than controls. Sleep and respiratory elements of SDB in infancy appear to modify these outcomes at 3 years of age. Citation: Smith CB, Walker K, Badawi N, WAters KA, MacLean JE. Impact of sleep and breathing in infancy on outcomes at three years of age for children with cleft lip and/or palate. SLEEP 2014;37(5):919-925. PMID:24790270

  10. Feeling Normal? Long-Term Follow-up of Patients with a Cleft Lip-Palate after Rhinoplasty with the Derriford Appearance Scale (DAS-59).

    PubMed

    Albers, Andreas E; Reichelt, Andreas C; Nolst-Trenité, Gilbert J; Menger, Dirk Jan

    2016-04-01

    The stigma of nasal deformity due to a congenital cleft lip-palate has an undeniable influence on the affected patient's life. It is therefore of interest to investigate if efforts to reduce esthetic and functional impairments by rhinoplasty (single or multiple) can result in an increased satisfaction with appearance and a self-perception similar to the noncleft population. Retrospective scoring before and after rhinoplasty using the validated Derriford Appearance Scale (DAS-59) and subsequent statistical evaluation and comparison to datasets available in the literature for further classification was used. Of the 61 patients who underwent at least one rhinoplasty, 26 responded to all questions. The mean age of responders was approximately 30 years of age and the male:female ratio was 1:1.2. The scale showed a significant overall improvement after surgery. The full scale and all subscale scores of the DAS-59 were significantly reduced after surgery demonstrating an improvement in the respective categories. Most importantly, if postoperative results were compared with a population concerned and unconcerned about appearance, no difference "facial self-consciousness" of appearance was apparent. Also postoperative subscores for "general self-consciousness" (GSC) and "social self-consciousness" of appearance (SSC) showed no difference from those obtained from the population concerned about appearance. The postoperative subscore for "sexual and bodily self-consciousness" of appearance (SBSC) indicated improvement beyond the level found in the concerned control population. Due to only a low improvement in the difference compared with the subscore representing a "negative self-concept," a statistically significant difference to the concerned population remained, possibly indicating that therapy beyond surgery is needed for improvement. After rhinoplasty, the investigated group of cleft lip-palate patients with nasal deformities showed an improvement in their self

  11. Isolated lower lip fistulas in Van der Woude syndrome.

    PubMed

    Etöz, Osman A; Etöz, Abdullah

    2009-09-01

    Van der Woude syndrome (VWS) is a dominantly inherited disease of orofacial region. Characteristic features of this syndrome are bilateral lower lip sinuses along with cleft lip or palate deformity. However, isolated lower lip pits in VWS without any cleft syndrome is uncommon. Lip pits in VWS are usually asymptomatic; however, patients may complain of watery drainage and/or infection. In this report, asymptomatic isolated lower lip sinuses without any cleft syndrome in a patient and his father are presented. PMID:19816310

  12. A Preliminary Three-Dimensional Analysis of Nasal Aesthetics Following Le Fort I Advancement in Patients With Cleft Lip and Palate.

    PubMed

    Davidson, Edward; Kumar, Anand R

    2015-10-01

    Nasal aesthetic changes after cleft orthognathic surgery remain understudied. Previous scarring associated with prior cleft surgery may affect the predictability of outcomes after jaw surgery. This study evaluates changes in nasal aesthetics using three-dimensional photography after Le Fort I advancement in patients with nonsyndromic cleft-related maxillary hypoplasia. Cephalometric parameters were recorded pre- and postoperatively. Three-dimensional photogrammetric imaging analyzed changes in interalar width (IAW), internostril width (INW), nasal tip projection (NTP), collumelar length (CL), nasal labial angle (NLA), and nasal length (NL). Statistical significance between pre- and postoperative data was determined using T-tests for each parameter. Eleven patients underwent either single piece Le Fort I osteotomy and advancement, (3 bilateral, 4 unilateral cleft lip, and palate), or 2-piece advancement (2 bilateral, 2 unilateral). Average nasal soft tissue changes were IAW 1.9 mm (0.4-4.2), INW -0.2 mm (-2.8 to 1.6), NTP -1.0 mm (-4.0 to 2.0), CL -0.7 mm (-2.9 to 1.5), NLA -0.2° (-13.9 to 15.1), and NL -0.7 mm (-4.3 to 1.5), (P = 0.001, 0.6, 0.08, 0.01, 0.9, 0.2). For single-piece osteotomy alone changes were IAW 2.1 mm (0.6-4.1), INW -0.6 mm (-2.8 to 1.7), NTP -1.9 mm (-4.0 to 0.3), CL -1.2 mm (-2.9 to 0.03), NLA -1.3° (-13.9 to 15.0), and NL -1.1 mm (-4.3 to 0.7), (P = 0.007, 0.3, 0.009, 0.0002, 0.7, 0.2). For 2-piece osteotomy alone changes were IAW 1.6 mm (-0.4 to 3.3), INW 0.5 mm (0.4-1.6), NTP 0.5 mm (-1.1-2.0), CL 0.2 mm (-1.4 to 1.5), NLA 2.8° (-7.6 to 10.1), and NL -0.1 mm (-1.4 to 1.5), (P = 0.2, 0.4, 0.5, 0.6, 0.5, 0.9). Cleft-related scarring and malposition affect changes in nasal aesthetics following maxillary advancement that are different to the noncleft population. Two-piece Le Fort I increases variability of changes in nasal aesthetics compared with single-piece advancement.

  13. Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus, anophthalmia, cleft lip and palate and severe mental retardation: a possible new syndrome.

    PubMed

    Rossiter, J P; Khalifa, M M; Nag, S

    2000-06-01

    A male infant was born with severe hydrocephalus, bilateral cleft lip/palate, left anophthalmos and right microphthalmos, and an equino-varus foot deformity. Imaging studies showed enlarged lateral ventricles, apparent absence of the corpus callosum and a midline density in the third ventricular region. He had a normal male karyotype. He was severely mentally retarded and died suddenly at 7 years of age. Neuropathological examination of the brain revealed enlarged and polygyric cerebral hemispheres, due to congenital obstructive hydrocephalus, and secondary thinning of the corpus callosum. An unusually large neuronal hamartoma filled the interpeduncular fossa and third ventricle. It was continuous posteriorly with the left thalamus and so was classified as diencephalic rather than as hypothalamic. The right optic nerve merged with the hamartoma, whereas the left nerve was absent. Microscopically the hamartoma consisted of mature grey matter interspersed with narrow bands of white matter. No immature or non-neural elements were identified. This combination of diencephalic neuronal hamartoma, hydrocephalus, ocular and craniofacial abnormalities has not, to our knowledge, previously been described.

  14. Relationship between Orthodontic Treatment Plan and Goslon Yardstick Assessment in Japanese Patients with Unilateral Cleft Lip and Palate: One-stage vs. Two-stage Palatoplasty.

    PubMed

    Ishii, Takenobu; Sakamoto, Teruo; Ishikawa, Munetada; Yasumura, Toshihiko; Miyazaki, Haruyo; Sueishi, Kenji

    2016-01-01

    The present study targeted patients with unilateral cleft lip and palate (UCLP) undergoing either one - (Wardill technique) or two-stage palatoplasty (Perko technique). Correlations between Goslon Yardstick scores and orthodontic appliances used and whether an osteotomy was performed were investigated. No differences were observed between the two types of palatoplasty in terms of Goslon Yardstick scores. A palatal expander and protraction facemask were used in Phase I of orthodontic treatment. The palatal expander was selected for most patients with UCLP in Phase I, regardless of the surgical technique used. A protraction facemask was used in patients undergoing the Wardill procedure who had a Goslon Yardstick score placing them in Group 3 or 4. In contrast, a protraction facemask was used in patients undergoing the Perko procedure who had a Goslon Yardstick score placing them in Group 4. No significant differences were observed in the Goslon Yardstick scores yielded by either type of procedure. The Goslon Yardstick score in relation to whether an osteotomy was performed in Phase II as part of orthodontic treatment was determined, focusing on the relationship between that score and the palatoplasty method used. A protraction facemask was used in patients undergoing the Perko procedure, which eliminated the need for an osteotomy at a future date. However, a protraction facemask was also used in patients undergoing the Wardill option, and those patients were likely to require an osteotomy. In other words, the results suggest that the type of palatoplasty selected will determine the effectiveness of any orthodontic appliances used. PMID:27665693

  15. The effect of sevoflurane on developing A/J strain mouse embryos using a whole-embryo culture system--the incidence of cleft lip in culture embryos.

    PubMed

    Yamada, Morimasa; Yamamoto, Naoki; Ohgami, Saori; Kanazawa, Mayuko; Harada, Jun; Ohno, Norikazu; Natsume, Nagato

    2014-03-01

    A/J strain mice have a high spontaneous incidence of cleft lip (ICL) and/or palate. The primary palate-related effects of sevoflurane on developing A/J strain mouse embryos (embryos) were studied using a whole-embryo culture (WEC) system. This system could separate the direct effects of sevoflurane from those that are maternally mediated. A total of 205 10.5-d embryos were cultured for 24 h in either a control group (control gas: 95% O2 and 5% CO2) or sevoflurane-administered groups (1/4, 1/2, and 1 minimum alveolar concentration (MAC) with control gas) for 8 h. After 16 h, 11.5-d culture embryos were examined in terms of crown-rump length, number of somites, and protein content. Crown-rump length in the 1 MAC was significantly shorter than in the control group (p < 0.05). Protein content in the 1/2 MAC (p < 0.05) and 1 MAC (p < 0.001) was significantly lower than in the control group. The ICL showed no significant differences between each group. (The ICL rose with an increase in the sevoflurane concentration, but this was not significant). The positive findings in this study indicate that a WEC system is useful for studying the mechanisms of ICL (teratogenicity) associated with sevoflurane.

  16. Difference in the Surgical Outcome of Unilateral Cleft Lip and Palate Patients with and without Pre-Alveolar Bone Graft Orthodontic Treatment

    PubMed Central

    Chang, Chun-Shin; Wallace, Christopher Glenn; Hsiao, Yen-Chang; Chiu, Yu-Ting; Pai, Betty Chien-Jung; Chen, I-Ju; Liao, Yu-Fang; Liou, Eric Jen-Wein; Chen, Philip Kuo-Ting; Chen, Jyh-Ping; Noordhoff, M. Samuel

    2016-01-01

    Presurgical orthodontic treatment before secondary alveolar bone grafting (SABG) is widely performed for cleft lip/palate patients. However, no randomized controlled trial has been published comparing SABG outcomes in patients with, and without, presurgical orthodontic treatment. This randomized, prospective, single-blinded trial was conducted between January 2012 and April 2015 to compare ABG volumes 6 months postoperatively between patients with and without presurgical orthodontic treatment. Twenty-four patients were enrolled and randomized and 22 patients completed follow-up. Patients who had presurgical orthodontics before SABG had significantly improved inclination (p < 0.001) and rotation (p < 0.001) of the central incisor adjacent to the defect, significantly improved ABG fill volume (0.81 ± 0.26 cm3 at 6 months compared to 0.59 ± 0.22 cm3; p < 0.05) and less residual alveolar bone defect (0.31 ± 0.08 cm3 at 6 months compared to s 0.55 ± 0.14 cm3; p < 0.001) compared to patients who did not have presurgical orthodontic treatment. In conclusion, orthodontic treatment combined with SABG results in superior bone volume when compared with conventional SABG alone. PMID:27041697

  17. Evaluation of transverse maxillary expansion after a segmental posterior subapical maxillary osteotomy in cleft lip and palate patients with severe collapse of the lateral maxillary segments.

    PubMed

    Carpentier, S; van Gastel, J; Schoenaers, J; Carels, C; Vander Poorten, V; Coucke, W; Verdonck, A

    2014-11-01

    Objective : The purpose of this longitudinal retrospective study was to evaluate transverse maxillary expansion after a Schuchardt or segmental posterior subapical maxillary osteotomy (SPSMO) in patients with cleft lip and palate (CLP). A second aim was to compare these data with data for adult patients without CLP who were receiving a surgical assisted rapid palatal expansion (SARPE). Method : The study group comprised 19 patients with CLP and a severe transversally collapsed maxilla who were treated with SPSMO followed by hyrax expansion at the University Hospitals Leuven. Dental casts of the 19 patients were analyzed before treatment, at maximum expansion, during orthodontic treatment, at the completion of orthodontic treatment. and 2 years after orthodontic treatment and were measured at the canine, premolar, and molar levels. Adult patients without CLP who were enrolled in a prospective study served as the control group. Results : Maxillary expansion within the study group was significantly greater (P < .05) at all measured levels compared with the maxillary arch before treatment. No significant relapse was measured in the study group 2 years after orthodontic treatment. When comparing the study and control groups, the only statistical difference was that canine expansion was significantly greater in the study group. Conclusion : SPSMO followed by maxillary expansion and orthodontic treatment is an appropriate treatment option to correct a severe transversally collapsed maxilla in patients with CLP. The overall treatment effect of SPSMO expansion is comparable with the effects of SARPE, although canine expansion was greater in the SPSMO group.

  18. Evaluation of Transverse Maxillary Expansion After a Segmental Posterior Subapical Maxillary Osteotomy in Cleft Lip and Palate Patients With Severe Collapse of the Lateral Maxillary Segments.

    PubMed

    Carpentier, S; van Gastel, J; Schoenaers, J; Carels, C; Vander Poorten, V; Coucke, W; Verdonck, A

    2014-06-11

    Objective :  The purpose of this longitudinal retrospective study was to evaluate transverse maxillary expansion after a Schuchardt or segmental posterior subapical maxillary osteotomy (SPSMO) in patients with cleft lip and palate (CLP). A second aim was to compare these data with data for adult patients without CLP who were receiving a surgical assisted rapid palatal expansion (SARPE). Method :  The study group comprised 19 patients with CLP and a severe transversally collapsed maxilla who were treated with SPSMO followed by hyrax expansion at the University Hospitals Leuven. Dental casts of the 19 patients were analyzed before treatment, at maximum expansion, during orthodontic treatment, at the completion of orthodontic treatment. and 2 years after orthodontic treatment and were measured at the canine, premolar, and molar levels. Adult patients without CLP who were enrolled in a prospective study served as the control group. Results :  Maxillary expansion within the study group was significantly greater (P < .05) at all measured levels compared with the maxillary arch before treatment. No significant relapse was measured in the study group 2 years after orthodontic treatment. When comparing the study and control groups, the only statistical difference was that canine expansion was significantly greater in the study group. Conclusion :  SPSMO followed by maxillary expansion and orthodontic treatment is an appropriate treatment option to correct a severe transversally collapsed maxilla in patients with CLP. The overall treatment effect of SPSMO expansion is comparable with the effects of SARPE, although canine expansion was greater in the SPSMO group.

  19. Associated Anomalies among Infants with Oral Clefts at Birth and during a 1 year Follow-up

    PubMed Central

    Rittler, Monica; Cosentino, Viviana; López-Camelo, Jorge S; Murray, Jeffrey C; Wehby, George; Castilla, Eduardo E

    2012-01-01

    Reports of birth defects rates may focus on defects observed in the newborn period or include defects diagnosed at older ages. However, little information is available on the rates of additional anomalies detected after birth or on the ages at which such anomalies are diagnosed. The aims of this work were to describe the initial diagnoses of oral clefts, isolated or associated with other defects, in newborn infants ascertained in hospitals of the ECLAMC network, and diagnostic changes that occurred due to detection of additional defects during a one-year follow-up period. Seven hundred ten liveborn infants with cleft lip only (CLO), cleft lip with cleft palate (CLP), or cleft palate (CP) were ascertained between 2003 and 2005. Prevalence estimates of isolated and associated clefts, diagnoses in infants with associated clefts, and the percentage of isolated clefts that were reclassified as associated were established. Birth prevalence estimates (per 1,000) were as follows: Total: 1.7; CLP: 0.94 (ASO=23.5%); CP: 0.46 (ASO=42.3%); CLO: 0.28 (ASO=7.6%). Initial diagnoses in infants with associated clefts included 38 infants with chromosomal abnormalities, 33 with non-chromosomal syndromes, 16 with malformation sequences, and 98 with multiple anomalies of unknown etiology. Seven percent of newborns initially classified as isolated were later reclassified as associated. Ten infants without associated defects or clinically suspected syndromes were diagnosed as syndromic only through laboratory findings or family history, illustrating the difference between the terms associated vs. isolated, which refers to presence or absence of associated anomalies, and syndromic vs. non-syndromic, which refers to etiology. PMID:21671378

  20. Parental cigarette smoking, transforming growth factor-alpha gene variant and the risk of orofacial cleft in Iranian infants

    PubMed Central

    Ebadifar, Asghar; Hamedi, Roya; KhorramKhorshid, Hamid Reza; Kamali, Koorosh; Moghadam, Fatemeh Aghakhani

    2016-01-01

    Objective(s): We investigated the influence of genetic variation of the transforming growth-factor alpha (TGFA) locus on the relationship between smoking and oral clefts. Materials and Methods: In this study 105 Iranian infants with non-syndromic cleft lip/palate and 218 controls with non-cleft birth defects were examined to test for associations among maternal exposures, genetic markers, and oral clefts. Maternal and parental smoking histories during pregnancy were obtained through questionnaire. DNA was extracted from newborn screening blood samples, and genotyping of the BamHI polymorphism in the TGFA gene was performed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. A number of factors including gender of the newborns, type of oral cleft, consanguinity of the parents, as well as the mother’s age and education were evaluated as potential confounders and effect modifiers. Results: Maternal smoking, in the absence of paternal smoking, was associated with an increased risk for CL/P (OR = 19.2, 95% CI = [(6.2-59.5)]) and cleft palate only (OR =48.7, 95% CI = [(8-29.3)]). If both parents smoked, risks were generally greater (OR = 55.6, 95% CI = [12-20.25]). Analyses for the risk of clefting from maternal smoking, stratified by the presence or absence of the TGFA/BamH1variant, revealed that the risk of clefting among the infants with the TGFA/BamH1 variant when their mothers smoked cigarettes was much greater than the infants who had non-smoker mothers (P=0.001, OR=10.4,95% CI=[3.2,33.6]). Conclusion: The results of this study indicate that first-trimester maternal smoking and infant TGFA locus mutations are both associated with nonsyndromic cleft lip and/or palate (CL/P). PMID:27279979

  1. Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

    PubMed Central

    Ludwig, Kerstin U.; Ahmed, Syeda Tasnim; Böhmer, Anne C.; Sangani, Nasim Bahram; Varghese, Sheryil; Klamt, Johanna; Schuenke, Hannah; Gültepe, Pinar; Hofmann, Andrea; Rubini, Michele; Aldhorae, Khalid Ahmed; Steegers-Theunissen, Regine P.; Rojas-Martinez, Augusto; Reiter, Rudolf; Borck, Guntram; Knapp, Michael; Nakatomi, Mitsushiro; Graf, Daniel; Mangold, Elisabeth; Peters, Heiko

    2016-01-01

    Nonsyndromic orofacial clefts are common birth defects with multifactorial etiology. The most common type is cleft lip, which occurs with or without cleft palate (nsCLP and nsCLO, respectively). Although genetic components play an important role in nsCLP, the genetic factors that predispose to palate involvement are largely unknown. In this study, we carried out a meta-analysis on genetic and clinical data from three large cohorts and identified strong association between a region on chromosome 15q13 and nsCLP (P = 8.13×10−14 for rs1258763; relative risk (RR): 1.46, 95% confidence interval (CI): 1.32–1.61)) but not nsCLO (P = 0.27; RR: 1.09 (0.94–1.27)). The 5 kb region of strongest association maps downstream of Gremlin-1 (GREM1), which encodes a secreted antagonist of the BMP4 pathway. We show during mouse embryogenesis, Grem1 is expressed in the developing lip and soft palate but not in the hard palate. This is consistent with genotype-phenotype correlations between rs1258763 and a specific nsCLP subphenotype, since a more than two-fold increase in risk was observed in patients displaying clefts of both the lip and soft palate but who had an intact hard palate (RR: 3.76, CI: 1.47–9.61, Pdiff<0.05). While we did not find lip or palate defects in Grem1-deficient mice, wild type embryonic palatal shelves developed divergent shapes when cultured in the presence of ectopic Grem1 protein (P = 0.0014). The present study identified a non-coding region at 15q13 as the second, genome-wide significant locus specific for nsCLP, after 13q31. Moreover, our data suggest that the closely located GREM1 gene contributes to a rare clinical nsCLP entity. This entity specifically involves abnormalities of the lip and soft palate, which develop at different time-points and in separate anatomical regions. PMID:26968009

  2. Lip asymmetry and smile aesthetics.

    PubMed

    Batwa, Waeil; McDonald, Fraser; Cash, Alex

    2013-11-01

    Objective : To determine if lip asymmetry can affect lip aesthetics. Setting and Participants : A group of dentists (n = 40) and cleft patients (n = 40) were recruited from the dental hospital and cleft service. Interventions : Still photographic digital images of lips and teeth were manipulated to produce a computerized gradient of smile appearance with different degrees of upper-lip vertical asymmetry. These five photographs (with 0 mm representing "symmetry," and 1, 2, 2.5, and 3 mm, asymmetries) were assessed by participants using a 5-point Likert scale. Statistics : Descriptive statistics in addition to chi-square test were used to analyze the data. In order to satisfy the requirement of the chi-square test, the five smile ratings were reduced to three. Results : Lip asymmetry did affect relative smile aesthetics, as determined by dentists and cleft patients. Both the dentists and cleft patients rated the 0-mm photograph more attractive than the 2.5-mm and 3-mm smiles (P < .05). The 0-, 1-, and 2-mm smiles were indistinguishable for both dentists and cleft patients. Conclusion : Lip asymmetry affects smile aesthetics. However, cleft patients and dentists were tolerant of minor asymmetries. This suggests that small degrees of lip asymmetry do not affect relative smile aesthetics as much as large degrees of lip asymmetry (2.5 mm or more).

  3. Facts about Cleft Lip and Cleft Palate

    MedlinePlus

    ... 2008;199:237.e1-9. Margulis AV, Mitchell AA, Gilboa SM, Werler MM, Glynn RJ, Hernandez-Diaz S, ... e7. Werler MM, Ahrens KA, Bosco JL, Michell AA, Anderka MT, Gilboa SM, Holmes LB, National Birth ...

  4. Regional analysis on the occurrence of oral clefts in South America.

    PubMed

    Poletta, F A; Castilla, E E; Orioli, I M; Lopez-Camelo, J S

    2007-12-15

    The aim of this work was to search for unequal birth prevalence rates (BPRs) of cleft lip +/- cleft palate (CL/P), and cleft palate only (CPO), among different geographic areas in South America, and to analyze phenotypic characteristics and associated risk factors in each identified cluster. Included were 5,128 CL/P cases, 1,745 CPO cases, and 3,712 controls (like-sexed, non-malformed liveborn infant, born immediately after a malformed one, in the same hospital), over 4,199,630 consecutive births. They were ascertained between 1967 and 2004, in 190 maternity hospitals of the ECLAMC (Estudio Colaborativo Latinoamericano de Malformaciones Congénitas) network, in 102 cities of all 10 South American countries. Non-predefined geographical areas with significantly unusual cleft BPRs were identified with Kulldorf and Nagarwalla's spatial scan statistic, employing number of cases and births, and exact location of each hospital. Expected values were cleft BPRs registered for the entire ECLAMC hospital network. Syndromic and non-syndromic clefts were considered for cluster analysis, and phenotypic characterization, while only non-syndromic for risk factor analysis. Seven clusters for CL/P, and four for CPO, with unusual BPRs were identified. CL/P cases in high BPR areas were more severe than elsewhere in the sample, similar to a previous ECLAMC report on microtia. For CL/P, high BPR clusters were associated with high altitude above sea level, Amerindian ancestry, and low socioeconomic strata; low BPR clusters showed association with African Black ancestry. Advanced maternal age, a recognized risk factor for CPO, was also associated with the only identified geographic cluster for CPO.

  5. Face facts: Genes, environment, and clefts

    SciTech Connect

    Murray, J.C.

    1995-08-01

    Cleft lip and/or palate provides an ideal, albeit complex, model for the study of human developmental anomalies. Clefting disorders show a mix of well-defined syndromic causes (many with single-gene or environmental etiologies) coupled with their more common presentation in the nonsyndromic form. This summary presents some insight into the genetic causes of, etiology of and animal models for cleft lip and/or palate. 79 refs.

  6. Cleft-orthognathic surgery.

    PubMed

    Posnick, Jeffrey C; Ricalde, Pat

    2004-04-01

    For the cleft patient presenting in adolescence with a jaw discrepancy and malocclusion, misinformation and limited available surgical and dental expertise often prevents a favorable facial reconstruction and dental rehabilitation. A major advantage of the modified Le Fort I osteotomy is its ability to simultaneously close cleft dental gap(s), resolve oronasal fistulas, manage skeletal defects, stabilize dentoalveolar segments, and correct jaw deformities. When a thoughtful staging of reconstruction is undertaken, individuals born with cleft lip and palate can reach adolescence after undergoing only a limited number of operations and interventions, without negative attention being drawn to their original malformation. PMID:15145672

  7. Use of Biphasic Continuous Positive Airway Pressure in Premature Infant with Cleft Lip–Cleft Palate

    PubMed Central

    George, Lovya; Jain, Sunil K.

    2015-01-01

    Preterm infants (PIs) often require respiratory support due to surfactant deficiency. Early weaning from mechanical ventilation to noninvasive respiratory support decreases ventilation-associated irreversible lung damage. This wean is particularly challenging in PIs with cleft lip and cleft palate due to anatomical difficulties encountered in maintaining an adequate seal for positive pressure ventilation. PI with a cleft lip and palate often fail noninvasive respiratory support and require continued intubation and mechanical ventilation. We are presenting the first case report of a PI with cleft lip and palate who was managed by biphasic nasal continuous positive airway pressure. PMID:26495158

  8. Reading in Subjects with an Oral Cleft: Speech, Hearing and Neuropsychological Skills

    PubMed Central

    Conrad, Amy L.; McCoy, Thomasin E.; DeVolder, Ian; Richman, Lynn C.; Nopoulos, Peg

    2014-01-01

    Objective Evaluate speech, hearing, and neuropsychological correlates to reading among children, adolescents and young adults with non-syndromic cleft of the lip and/or palate (NSCL/P). Method All testing was completed in one visit at a Midwestern university hospital. Subjects in both the NSCL/P (n = 80) and control group (n = 62) ranged in age from 7 to 26 years (average age = 17.60 and 17.66, respectively). Subjects completed a battery of standardized tests evaluating intelligence, neuropsychological skills, and word reading. Subjects with NSCL/P also underwent speech assessment and past audiology records were evaluated. Results After controlling for age and SES, subjects with cleft performed significantly worse on a test of word reading. For subjects with cleft, word reading deficits were not associated with measures of speech or hearing, but were correlated with impairments in auditory memory. Conclusions These findings show poorer reading among subjects with NCL/P compared to those without. Further work needs to focus on correlates of reading among subjects with cleft to allow early identification and appropriate intervention/accommodation for those at risk. PMID:24188114

  9. Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication

    PubMed Central

    Sedghi, Maryam; Abdali, Hossein; Memarzadeh, Mehrdad; Salehi, Mansoor; Nouri, Narges; Hosseinzadeh, Majid; Nouri, Nayereh

    2015-01-01

    Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements. A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic assessment and counseling for the patients. In this study, multiplex ligation probe dependent amplification (MLPA) analysis was performed on 378 patients with cleft lip and/or palate to characterize rearrangements in patients suspected of 22q11.2 microduplication and microdeletion syndromes. Of 378 cases, 15 were diagnosed with a microdeletion with various sizes and 3 with duplications. For the first time in this study an atypical 0.6 Mb duplication is reported. Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in the literature. PMID:26640714

  10. The frequency of non-syndromic distomolar teeth in a Greek population sample?

    PubMed Central

    Vardas, Emanouel; Papachatzopoulou, Angeliki; Kalfountzos, Georgios; Leventis, Minas; Tsiklakis, Kostas

    2015-01-01

    Background To investigate the frequency of non-syndromic distomolars in a Greek population sample. Material and Methods The study population of this retrospective study consisted of 859 Orthopantomograms (OPGs) of 425 male and 434 female patients, attended the Department of Oral Diagnosis and Radiology, Dental School of Athens seeking for treatment. The OPGs were taken as a part of the patients treatment planning. Patients’ mean age was 33.57 years. Exclusion criteria from this study was cleft lip ± palate and diseases associated with systemic conditions and syndromes (such as cleidocranial dysplasia and Gardner syndrome). OPGs were only included in the study if at least one 3rd molar was present. The data collected were the number of 3rd molars, the number of distomolars, the age and the gender of each patient, information concerning previous extraction of 3rd molars. Statistical evaluation of the data included descriptive and bivariate analyses (Chi-square test and Spearman’s rho correlation coefficient). In an attempt to further estimate the correlation between the presence of upper and lower 3rd conditions we assumed that the absence of 3rd molars, the presence of 3rd molars, and the presence of distomolars was ordinal in nature and we calculated the Spearman Correlation Coefficient. Results The number of distomolars was greater in the maxilla than in the mandible. In the maxilla the distomolars were located almost equally in both left and right side. It was more possible lower left distomolars to be present in males than in females. Furthermore, males present higher prevalence of supernumerary teeth than females. Conclusions Early radiographic diagnosis of distomolars is fundamental so as to prevent complications such malocclusion, delayed eruption or displacement root or/ and resorption of adjacent teeth, pulp necrosis, follicular cyst, pain. Key words:Non syndromic, distomolars, supernumerary molars, fourth molars. PMID:26644834

  11. Radiographic Study of the Prevalence and Distribution of Hypodontia Associated with Unilateral and Bilateral Clef Lip and Palate in a Hungarian Population

    PubMed Central

    Berniczei-Roykó, Ádám; Tappe, Jan-Hendrik; Krinner, Axel; Gredes, Tomasz; Végh, András; Gábor, Katona; Linkowska-Świdzińska, Kamila; Botzenhart, Ute Ulrike

    2016-01-01

    Background Cleft defects are one of the most frequent birth-deformities of the orofacial region and they are commonly associated with anomalies of the tooth structure, size, shape, formation, eruption, and tooth number. The aim of our study was to evaluate the prevalence, distribution, and potential association of combined hypodontia in cleft-affected patients with regard to all types of teeth in both jaws in the permanent dentition. Material/Methods This retrospective radiographic analysis included patients with various types of clefts treated orthodontically in the Department of Orofacial Orthopedics and Orthodontics at Heim Pàl Children’s Hospital, Budapest. There were 150 patients (84 males, 66 females) with non-syndromic unilateral (UCLP; n=120 patients) or bilateral (BCLP; n=30 patients) cleft formation (lip, alveolus and palate) who met the inclusion criteria. Statistical analysis was performed using the chi-square test and Fisher’s exact test (significance level p<0.05). Results Hypodontia was significantly more frequent in patients with cleft-sided lateral incisor (104 patients, 69%), with a total of 235 missing teeth, followed by the second premolars of the upper and lower jaw. A significant correlation of congenital missing teeth was observed in left-sided clefts between the upper and lower second premolar in the cleft area. Conclusions Hypodontia inside and outside the cleft area was frequently observed. This should affect the therapy plans, especially if the cleft-sided premolar is also absent. Further comprehensive research including numerous random samples is necessary for better estimating other possible associations. PMID:27767023

  12. Length of the cervical spine as a factor in the etiology of cleft palate.

    PubMed

    Smahĕl, Z; Skvarilová, B

    1993-05-01

    The length of the cervical spine in a series of 206 adult males with cleft lip and/or palate and 50 normal controls was measured. The patients were divided into five subgroups according to the type and extent of the cleft. The shortening of the spine was most marked in bilateral cleft lip and palate patients (complete), less marked in unilateral cleft lip and palate patients, and was slight in isolated cleft palate patients. Complete isolated cleft palate and cleft lip was not associated with a shortening of the spine. A shortening of the cervical spine in less extensive types of isolated cleft palate was suggestive of the participation of the spine in their development, while in cleft lip and palate a simultaneous exposure to a teratogenic agent or any other developmental error during early stages of embryogenesis could explain the concomitant occurrence of spine anomalies. Patients with cleft lip and palate associated with a short spine also had a shorter mandibular ramus, which could be suggestive of simultaneous damage to both structures during morphogenesis. This relationship was not demonstrated in isolated cleft palate that developed in later stages of embryogenesis. In these cases a short spine itself could not have impaired the growth potential of the mandible, yet it could have mechanically induced the development of cleft palate. These observations are in agreement with the present state of knowledge on the development of orofacial clefts as shown in experimental animals.

  13. Phonologic processes in children with cleft palate.

    PubMed

    Chapman, K L

    1993-01-01

    This study examined the phonologic process usage of 3-, 4- and 5-year-old children with cleft palate. Sixty children served as subjects: 30 children with cleft palate (with or without cleft lip) and 30 noncleft palate children. The children's whole word productions were analyzed for frequency and type of phonologic process usage. Results indicated that the 3- and 4-year old children with cleft palate exhibited more instances of process usage, compared to their noncleft peers. The 5-year-old cleft and noncleft groups were similar in total instances of process usage. Further, the children with cleft palate employed common phonologic processes; however, some processes were noted more frequently in the speech of the 3-year-old children with cleft palate.

  14. Clustering of malformations in the families of South American oral cleft neonates.

    PubMed Central

    Menegotto, B G; Salzano, F M

    1991-01-01

    The relatives of 741 newborn children with non-syndromic cleft lip with or without cleft palate (CL +/- P), of 115 with isolated cleft palate (CP), and of equal numbers of appropriate controls were screened for the presence of the same or different malformations. The main findings were as follows. (1) The frequency of familial cases of CL +/- P (17.3%) was much higher than the prevalence of this malformation among the relatives of controls (0.5%). (2) The sibs of CL +/- P subjects showed a higher prevalence of this condition than their parents (2.9% v 1.6%). (3) The degree of genetic determination of this condition should be high (70 to 74%), and the data in general favour a multifactorial model of inheritance, with different thresholds between sexes. However, the action of dominant genes cannot be excluded since selection or dominant genes or both could be postulated to explain the parent/sib difference. (4) The frequency of other malformations was also significantly raised in the families of CL +/- P probands, as compared to controls (12.1% v 6.2%). (5) The prevalence of these other malformations was higher among sibs (1.6%) than parents (0.7%) of CL +/- P babies. (6) A general susceptibility to malformations and different exposure to selective agents may explain these latter findings. (7) None of the comparisons involving CP children yielded significant results. PMID:2002479

  15. [Team management of orofacial clefts].

    PubMed

    Kuijpers-Jagtman, A M; Borstlap-Engels, V M; Spauwen, P H; Borstlap, W A

    2000-11-01

    In the Netherlands 15 centres provide multidisciplinary care for cleft lip and palate patients. Usually the following disciplines participate in such teams: paediatrics, plastic and reconstructive surgery, orthodontics, genetics, social work or nursing, ENT, speech therapy, maxillofacial surgery, prosthetic dentistry, psychology and oral hygiene. An overview is given of the treatment protocol from birth until 20 years of age for a child with a complete UCLP or BCLP. It is concluded that properly designed prospective clinical trials are rare, resulting in a lack of evidence based care in the field of cleft lip and palate. Furthermore it should be investigated whether it is preferable to centralise the cleft care in less centres than the present 15 ones.

  16. Dental materials for cleft palate repair.

    PubMed

    Sharif, Faiza; Ur Rehman, Ihtesham; Muhammad, Nawshad; MacNeil, Sheila

    2016-04-01

    Numerous bone and soft tissue grafting techniques are followed to repair cleft of lip and palate (CLP) defects. In addition to the gold standard surgical interventions involving the use of autogenous grafts, various allogenic and xenogenic graft materials are available for bone regeneration. In an attempt to discover minimally invasive and cost effective treatments for cleft repair, an exceptional growth in synthetic biomedical graft materials have occurred. This study gives an overview of the use of dental materials to repair cleft of lip and palate (CLP). The eligibility criteria for this review were case studies, clinical trials and retrospective studies on the use of various types of dental materials in surgical repair of cleft palate defects. Any data available on the surgical interventions to repair alveolar or palatal cleft, with natural or synthetic graft materials was included in this review. Those datasets with long term clinical follow-up results were referred to as particularly relevant. The results provide encouraging evidence in favor of dental and other related biomedical materials to fill the gaps in clefts of lip and palate. The review presents the various bones and soft tissue replacement strategies currently used, tested or explored for the repair of cleft defects. There was little available data on the use of synthetic materials in cleft repair which was a limitation of this study. In conclusion although clinical trials on the use of synthetic materials are currently underway the uses of autologous implants are the preferred treatment methods to date.

  17. Comparisons of speech aerodynamics and lateral craniofacial cephalometrics in cleft lip and palate patients with and without Finnish /r/-sound distortion.

    PubMed

    Laitinen, J; Hurmerinta, K; Ranta, R; Sarmas, R; Haapanen, M L

    2001-01-01

    To study the associations between the articulation of the Finnish /r/ sound and dentofacial and pharyngeal lateral cephalometric morphology and speech physiology, 18 (12 females, 6 males) young adult cleft patients' /r/ sound was analysed auditorily by 3 speech experts. Laryngeal resistance (LARE), the smallest nasal cross-sectional area (NASA), nasal resistance (NASAR) and velopharyngeal orifice area (VEPA) were measured with pressure flow technique, and 31 points were identified from the lateral cephalograms to landmark the skeletal structure, pharyngeal airway diameters, and position of the hyoid bone. The present results showed no significant differences in lateral cephalometric skeletal, nasopharyngeal, oropharyngeal or hypopharyngeal morphology between subjects with and without /r/-sound distortion. There were no significant correlations either between /r/ distortions and NASA, NASAR or VEPA. An anteriorly positioned hyoid bone was significantly associated with decreased LARE and /r/ distortion. LARE was significantly lower in subjects with /r/ distortion.

  18. Tissue-plastinated vs. celloidin-embedded large serial sections in video, analog and digital photographic on-screen reproduction: a preliminary step to exact virtual 3D modelling, exemplified in the normal midface and cleft-lip and palate

    PubMed Central

    Landes, Constantin A; Weichert, Frank; Geis, Philipp; Wernstedt, Katrin; Wilde, Anja; Fritsch, Helga; Wagner, Mathias

    2005-01-01

    This study analyses tissue-plastinated vs. celloidin-embedded large serial sections, their inherent artefacts and aptitude with common video, analog or digital photographic on-screen reproduction. Subsequent virtual 3D microanatomical reconstruction will increase our knowledge of normal and pathological microanatomy for cleft-lip-palate (clp) reconstructive surgery. Of 18 fetal (six clp, 12 control) specimens, six randomized specimens (two clp) were BiodurE12-plastinated, sawn, burnished 90 µm thick transversely (five) or frontally (one), stained with azureII/methylene blue, and counterstained with basic-fuchsin (TP-AMF). Twelve remaining specimens (four clp) were celloidin-embedded, microtome-sectioned 75 µm thick transversely (ten) or frontally (two), and stained with haematoxylin–eosin (CE-HE). Computed-planimetry gauged artefacts, structure differentiation was compared with light microscopy on video, analog and digital photography. Total artefact was 0.9% (TP-AMF) and 2.1% (CE-HE); TP-AMF showed higher colour contrast, gamut and luminance, and CE-HE more red contrast, saturation and hue (P < 0.4). All (100%) structures of interest were light microscopically discerned, 83% on video, 76% on analog photography and 98% in digital photography. Computed image analysis assessed the greatest colour contrast, gamut, luminance and saturation on video; the most detailed, colour-balanced and sharpest images were obatined with digital photography (P < 0.02). TP-AMF retained spatial oversight, covered the entire area of interest and should be combined in different specimens with CE-HE which enables more refined muscle fibre reproduction. Digital photography is preferred for on-screen analysis. PMID:16050904

  19. Occurrence of dental consonant misarticulations in different cleft types.

    PubMed

    Laitinen, J; Haapanen, M L; Paaso, M; Pulkkinen, J; Heliövaara, A; Ranta, R

    1998-01-01

    To study the occurrence and type of misarticulations in dental consonants /r/, /s/ and /l/ 280 (115 girls, 165 boys) 6-year-old cleft children were examined by 1 of the 2 experienced speech pathologists of the cleft team. The patients included 82 children with isolated cleft palate (CP), 82 with cleft lip with (34) or without (48) cleft alveolus [CL(A)], 85 with unilateral cleft lip and palate (UCLP) and 31 with bilateral cleft lip and palate (BCLP). CP children were first divided into subgroups; there were 17 children with soft palate cleft, 49 with partial and 16 with complete hard palate cleft. All patients were native Finnish speakers, and had normal hearing, no known syndrome or associated anomalies possibly affecting speech or psychomotor retardation. The results showed that the occurrence and severity as well as the number of errors of all studied sounds separately or grouped increased with the severity of the cleft being constantly greatest in the BCLP group and lowest in the CL(A) group. Altogether 44% of the patients misarticulated at least one studied sound; 41% distorted and 5% substituted, and 2% both distorted and substituted. The /r/ sound was misarticulated by 36%, the /s/ sound by 23%, and the /l/ sound by 18% of the patients. Boys tend to have more problems in producing the studied sounds correctly.

  20. Reconstruction of the lower lip in Van der Woude syndrome.

    PubMed

    Bozkurt, Mehmet; Kulahci, Yalcin; Zor, Fatih; Kapi, Emin; Yucetas, Altan

    2009-04-01

    Van der Woude syndrome (VWS) is a congenital disease characterized by labial cysts, accessory salivary glands, congenital lower lip pits, fistula, and paramedian sinuses, and is often accompanied by cleft lip and palate. VWS is an autosomal dominant craniofacial syndrome, which represents only lower lip pits due to variable gene expression. The principles of VWS surgery include excision of lower lip pits and accessory glands, reconstruction of the lip and nose, and correction of accompanying anomalies. In this article, we present a technique with dermal allograft reconstruction to prevent deformities after excision of the accessory gland in the lower lip pit. PMID:19325355

  1. Possible sex-discriminant variables in craniofacial growth in clefting.

    PubMed

    Long, R E; Jain, R B; Krogman, W M

    1982-11-01

    In this investigation, 174 patients with orofacial clefts were examined for identification of possible sex differences in craniodentofacial measurements. The patients were selected from the longitudinal growth files of the H. K. Cooper Clinic. Records available for analysis were serial lateral cephalometric radiographs from the age of 1 month to 10 years. Patients were grouped by cleft type and sex within each cleft group (78 cleft palate only, 64 unilateral cleft of lip and palate, 32 bilateral cleft of lip and palate). Stepwise discriminant analysis of fourteen linear and angular craniofacial dimensions was used to identify those variables which contributed to sex differences within each cleft group over the growth/time intervals examined. Results suggested the possibility of sex-related differences in growth timing, that is, earlier maturation and growth in females in several craniofacial areas which did not appear to be related to the presence, absence, or type of cleft but which could possibly modify cleft-specific responses to treatment (cranial base dimensions, face heights). Other sex-related differences appeared to be more specifically related to known sex differences in original cleft type and severity (mandibular size and position, midfacial dimensions). The manner in which these various sex factors interface with environmental and therapeutic influences in producing the ultimate craniodentofacial morphology in a given sex and cleft type is discussed.

  2. Implementing the Brazilian Database on Orofacial Clefts

    PubMed Central

    Monlleó, Isabella Lopes; Fontes, Marshall Ítalo Barros; Ribeiro, Erlane Marques; de Souza, Josiane; Leal, Gabriela Ferraz; Félix, Têmis Maria; Fett-Conte, Agnes Cristina; Bueno, Bruna Henrique; Magna, Luis Alberto; Mossey, Peter Anthony; Gil-da Silva-Lopes, Vera

    2013-01-01

    Background. High-quality clinical and genetic descriptions are crucial to improve knowledge of orofacial clefts and support specific healthcare polices. The objective of this study is to discuss the potential and perspectives of the Brazilian Database on Orofacial Clefts. Methods. From 2008 to 2010, clinical and familial information on 370 subjects was collected by geneticists in eight different services. Data was centrally processed using an international system for case classification and coding. Results. Cleft lip with cleft palate amounted to 198 (53.5%), cleft palate to 99 (26.8%), and cleft lip to 73 (19.7%) cases. Parental consanguinity was present in 5.7% and familial history of cleft was present in 26.3% subjects. Rate of associated major plus minor defects was 48% and syndromic cases amounted to 25% of the samples. Conclusions. Overall results corroborate the literature. Adopted tools are user friendly and could be incorporated into routine patient care. The BDOC exemplifies a network for clinical and genetic research. The data may be useful to develop and improve personalized treatment, family planning, and healthcare policies. This experience should be of interest for geneticists, laboratory-based researchers, and clinicians entrusted with OC worldwide. PMID:23577250

  3. Lip adhesion revisited: A technical note with review of literature

    PubMed Central

    Nagy, Krisztián; Mommaerts, Maurice Y.

    2009-01-01

    Context (Background): Lip adhesion is a direct edge approximation without changing lip landmarks or disturbing tissue required for definitive closure. This converts a complete cleft into an incomplete cleft, facilitating and enhancing subsequent definitive lip and nose repair. Aim: The study aims to describe our technique of lip adhesion and its morbidity, and discuss the rationale for its use. Settings and Design: Retrospective follow-up study of complete clefts operated upon in the Bruges Cleft and Craniofacial Centre, at the supra regional teaching hospital AZ St. Jan, Bruges, between June 1, 1991 and May 1, 2009. Methods and Material: The group comprised 33 unilateral and 24 bilateral lip adhesion procedures. The medical files were reviewed for changes in surgical technique, morbidity, and complications and their treatment. Results: The lip adhesion procedure was performed at the age of two to eight weeks postnatal, and definitive lip closure, at the age of four to six months. In all cases, segment repositioning was further controlled by a palatal guidance plate. Wound dehiscence occurred in eight patients (14.0%), and three patients (5.3%) required reoperation. Conclusions: Although complications occurred, the beneficial effects of lip adhesion in combination with a guidance plate outweighed the risks for anatomical reconstruction of a platform for definitive lip and nose repair. Modifications are suggested to reduce these complications. PMID:20368859

  4. Lower lip pits in a patient with van der Woude syndrome.

    PubMed

    Baghestani, Shahram; Sadeghi, Naser; Yavarian, Majid; Alghasi, Hekmat

    2010-09-01

    van der Woude syndrome (VWS) is a congenital malformation characterized by lower lip pits with or without cleft lip or cleft palate. It is an autosomal-dominant inherited disorder with variable expression in clinical manifestation. Microdeletion in chromosome bands 1q32-q41 and recently identified mutation in interferon regulatory factor 6 gene (IRF6) have been reported to cause VWS. We report a case of VWS with lower lip pits as its main clinical manifestation without associated cleft in lip or palate. No mutation or deletion was found in the IRF6 gene or promoter site, indicating the heterogeneity of this defect. PMID:20818247

  5. Submucous Clefts

    MedlinePlus

    ... properly and the individual is at risk for speech problems, middle ear disease, and swallowing difficulties. However, ... for a submucous cleft palate is abnormal nasal speech. Other symptoms may include persistent middle ear disease ...

  6. [Neurologic disturbances in children with cleft lip and cleft palate].

    PubMed

    Kovrazhkina, E A; Starikova, N V; Nadtochy, A G; Gubsky, L V; Panov, V O; Volkova, K N

    2016-01-01

    Цель исследования. Выявление и описание неврологических проявлений генетических синдромов, в структуру которых входят врожденные расщелины губы и неба (РГН). Материал и методы. Обследовали 21 пациента с РГН, средний возраст 12,0±4,7 года (основная группа) в сравнении со здоровыми (контрольная группа). Результаты и заключение. У пациентов основной группы достоверно чаще (p<0,01) встречались элементы бульбарного синдрома (девиация и гипотрофия языка, провисание мягкого неба, специфические речевые нарушения) и аномалии мимической иннервации (гипомимия, асимметрия лица), микроочаговая неврологическая симптоматика. Наиболее характерными для больных с РГН оказались бульбарные нарушения, выявленные в 100% случаев. Обнаруженные у пациентов с РГН особенности неврологического статуса свидетельствуют о поражении ствола головного мозга, мимической иннервации, черепных нервов бульбарной группы и дефектах развития нервной трубки.

  7. Cranio-facial clefts in pre-hispanic America.

    PubMed

    Marius-Nunez, A L; Wasiak, D T

    2015-10-01

    Among the representations of congenital malformations in Moche ceramic art, cranio-facial clefts have been portrayed in pottery found in Moche burials. These pottery vessels were used as domestic items during lifetime and funerary offerings upon death. The aim of this study was to examine archeological evidence for representations of cranio-facial cleft malformations in Moche vessels. Pottery depicting malformations of the midface in Moche collections in Lima-Peru were studied. The malformations portrayed on pottery were analyzed using the Tessier classification. Photographs were authorized by the Larco Museo.Three vessels were observed to have median cranio-facial dysraphia in association with midline cleft of the lower lip with cleft of the mandible. ML001489 portrays a median cranio-facial dysraphia with an orbital cleft and a midline cleft of the lower lip extending to the mandible. ML001514 represents a median facial dysraphia in association with an orbital facial cleft and a vertical orbital dystopia. ML001491 illustrates a median facial cleft with a soft tissue cleft. Three cases of midline, orbital and lateral facial clefts have been portrayed in Moche full-figure portrait vessels. They represent the earliest registries of congenital cranio-facial malformations in ancient Peru. PMID:26010214

  8. Cranio-facial clefts in pre-hispanic America.

    PubMed

    Marius-Nunez, A L; Wasiak, D T

    2015-10-01

    Among the representations of congenital malformations in Moche ceramic art, cranio-facial clefts have been portrayed in pottery found in Moche burials. These pottery vessels were used as domestic items during lifetime and funerary offerings upon death. The aim of this study was to examine archeological evidence for representations of cranio-facial cleft malformations in Moche vessels. Pottery depicting malformations of the midface in Moche collections in Lima-Peru were studied. The malformations portrayed on pottery were analyzed using the Tessier classification. Photographs were authorized by the Larco Museo.Three vessels were observed to have median cranio-facial dysraphia in association with midline cleft of the lower lip with cleft of the mandible. ML001489 portrays a median cranio-facial dysraphia with an orbital cleft and a midline cleft of the lower lip extending to the mandible. ML001514 represents a median facial dysraphia in association with an orbital facial cleft and a vertical orbital dystopia. ML001491 illustrates a median facial cleft with a soft tissue cleft. Three cases of midline, orbital and lateral facial clefts have been portrayed in Moche full-figure portrait vessels. They represent the earliest registries of congenital cranio-facial malformations in ancient Peru.

  9. Novel Cleft Susceptibility Genes in Chromosome 6q

    PubMed Central

    Letra, A.; Menezes, R.; Fonseca, R.F.; Govil, M.; McHenry, T.; Murphy, M.J.; Hennebold, J.D.; Granjeiro, J.M.; Castilla, E.E.; Orioli, I.M.; Martin, R.; Marazita, M.L.; Bjork, B.C.; Vieira, A.R.

    2010-01-01

    Cleft lip/palate is a defect of craniofacial development. In previous reports, chromosome 6q has been suggested as a candidate region for cleft lip/palate. A multipoint posterior probability of linkage analysis of multiplex families from the Philippines attributed an 88% probability of harboring a cleft-susceptibility gene to a narrower region on bands 6q14.2-14.3. We genotyped 2732 individuals from families and unrelated individuals with and without clefts to investigate the existence of possible cleft-susceptibility genes in this region. We found association of PRSS35 and SNAP91 genes with cleft lip/palate in the case-control cohort and in Caucasian families. Haplotype analyses support the individual associations with PRSS35. We found Prss35 expression in the head and palate of mouse embryos at critical stages for palatogenesis, whereas Snap91 was expressed in the adult brain. We provide further evidence of the involvement of chromosome 6q in cleft lip/palate and suggest PRSS35 as a novel candidate gene. PMID:20511563

  10. Parental Reactions to Cleft Palate Children.

    ERIC Educational Resources Information Center

    Vanpoelvoorde, Leah; Shaughnessy, Michael F.

    1991-01-01

    This paper reviews parents' emotional reactions following the birth of a cleft lip/palate child. It examines when parents were told of the deformity and discusses the duties of the speech-language pathologist and the psychologist in counseling the parents and the child. (Author/JDD)

  11. Parental Reactions to Cleft Palate Children.

    ERIC Educational Resources Information Center

    Vanpoelvoorde, Leah

    This literature review examines parental reactions following the birth of a cleft lip/palate child, focusing primarily on the mother's reactions. The research studies cited have explored such influences on maternal reactions as her feelings of lack of control over external forces and her feelings of guilt that the deformity was her fault. Delays…

  12. The Repair of International Clefts in the Current Surgical Landscape.

    PubMed

    Persing, Sarah; Patel, Anup; Clune, James E; Steinbacher, Derek M; Persing, John A

    2015-06-01

    Cleft lip and palate (CLP) constitute a significant global disease burden. There are two general models that exist to deliver cleft care: surgical missions and comprehensive cleft centers (CCC). While surgical missions offer high quality surgical care to patients who would be unlikely to ever receive treatment, they may fail to provide sustainable solutions. The development of CCC is growing in popularity worldwide. CCC are permanent centers that offer a multidisciplinary team approach to the treatment of cleft lip and palate. Operation Smile has adopted the concept of specialized surgical care centers. These centers are shown to be safe, cost-effective, and provide sustainable solutions for cleft care. The authors discuss some of the benefits and drawbacks of the classic mission-based model and highlight why there may be a paradigm shift towards CCC. PMID:26080140

  13. Management of cleft lip and palate.

    PubMed

    Habel, A; Sell, D; Mars, M

    1996-04-01

    The complex nature of treatment for CL/P, a condition that requires a large multidisciplinary team treating patients from birth to maturity, has been outlined. Subjecting centres' outcomes to audit should precede heeding the current siren calls for paediatricians to refer children exclusively to a particular surgical speciality. A growing body of evidence has shown a close correlation between quality of outcome and the availability of high volume centralised care by dedicated teams, as has been proved and accepted for years in other fields such as surgery in infancy, childhood malignancies, and cystic fibrosis.

  14. Cleft lip and palate repair - discharge

    MedlinePlus

    ... opening or stitches come apart. The incision is red, or there is drainage. There is any bleeding from the incision, mouth, or nose. If bleeding is heavy, go to the emergency room or call 911. Your child is not able ...

  15. DLX4 is associated with orofacial clefting and abnormal jaw development

    PubMed Central

    Wu, Di; Mandal, Shyamali; Choi, Alex; Anderson, August; Prochazkova, Michaela; Perry, Hazel; Gil-Da-Silva-Lopes, Vera L.; Lao, Richard; Wan, Eunice; Tang, Paul Ling-Fung; Kwok, Pui-yan; Klein, Ophir; Zhuan, Bian; Slavotinek, Anne M.

    2015-01-01

    Cleft lip and/or palate (CL/P) are common structural birth defects in humans. We used exome sequencing to study a patient with bilateral CL/P and identified a single nucleotide deletion in the patient and her similarly affected son—c.546_546delG, predicting p.Gln183Argfs*57 in the Distal-less 4 (DLX4) gene. The sequence variant was absent from databases, predicted to be deleterious and was verified by Sanger sequencing. In mammals, there are three Dlx homeobox clusters with closely located gene pairs (Dlx1/Dlx2, Dlx3/Dlx4, Dlx5/Dlx6). In situ hybridization showed that Dlx4 was expressed in the mesenchyme of the murine palatal shelves at E12.5, prior to palate closure. Wild-type human DLX4, but not mutant DLX4_c.546delG, could activate two murine Dlx conserved regulatory elements, implying that the mutation caused haploinsufficiency. We showed that reduced DLX4 expression after short interfering RNA treatment in a human cell line resulted in significant up-regulation of DLX3, DLX5 and DLX6, with reduced expression of DLX2 and significant up-regulation of BMP4, although the increased BMP4 expression was demonstrated only in HeLa cells. We used antisense morpholino oligonucleotides to target the orthologous Danio rerio gene, dlx4b, and found reduced cranial size and abnormal cartilaginous elements. We sequenced DLX4 in 155 patients with non-syndromic CL/P and CP, but observed no sequence variants. From the published literature, Dlx1/Dlx2 double homozygous null mice and Dlx5 homozygous null mice both have clefts of the secondary palate. This first finding of a DLX4 mutation in a family with CL/P establishes DLX4 as a potential cause of human clefts. PMID:25954033

  16. Corticosteroid use during pregnancy and risk of orofacial clefts

    PubMed Central

    Hviid, Anders; Mølgaard-Nielsen, Ditte

    2011-01-01

    Background The association between the risk of orofacial clefts in infants and the use of corticosteroids during pregnancy is unclear from the available evidence. We conducted a nationwide cohort study of all live births in Denmark over a 12-year period. Methods We collected data on all live births in Denmark from Jan. 1, 1996, to Sept. 30, 2008. We included live births for which information was available from nationwide health registries on the use of corticosteroids during pregnancy, the diagnosis of an orofacial cleft and possible confounders. Results There were 832 636 live births during the study period. Exposure to corticosteroids during the first trimester occurred in 51 973 of the pregnancies. A total of 1232 isolated orofacial clefts (i.e., cleft lip, cleft palate, or cleft lip and cleft palate) were diagnosed within the first year of life, including 84 instances in which the infant had been exposed to corticosteroids during the first trimester of pregnancy. We did not identify any statistically significant increased risk of orofacial clefts associated with the use of corticosteroids: cleft lip with or without cleft palate, prevalence odds ratio (OR) 1.05 (95% confidence interval [CI] 0.80–1.38]; cleft palate alone, prevalence OR 1.23 (95% CI 0.83–1.82). Odds ratios for risk of orofacial clefts by method of delivery (i.e., oral, inhalant, nasal spray, or dermatologic and other topicals) were consistent with the overall results of the study and did not display significant heterogeneity, although the OR for cleft lip with or without cleft palate associated with the use of dermatologic corticosteroids was 1.45 (95% CI 1.03–2.05). Interpretation Our results add to the safety information on a class of drugs commonly used during pregnancy. Our study did not show an increased risk of orofacial clefts with the use of corticosteroids during pregnancy. Indepth investigation of the pattern of association between orofacial clefts and the use of dermatologic

  17. Cortical Clefts and Cortical Bumps: A Continuous Spectrum.

    PubMed

    Biswas, Asthik; Furruqh, Farha; Thirunavukarasu, Suresh; Vivekandan, Ravichandran

    2016-07-01

    Cortical 'clefts' (schizencephaly) and cortical 'bumps' (polymicrogyria) are malformations arising due to defects in postmigrational development of neurons. They are frequently encountered together, with schizencephalic clefts being lined by polymicrogyria. We present the case of an eight-year-old boy who presented with seizures. Imaging revealed closed lip schizencephaly, polymicrogyria and a deep 'incomplete' cleft lined by polymicrogyria not communicating with the lateral ventricle. We speculate that hypoperfusion or ischaemic cortical injury during neuronal development may lead to a spectrum of malformations ranging from polymicrogyria to incomplete cortical clefts to schizencephaly. PMID:27630923

  18. Congenital lower lip pits (Van der Woude syndrome): report of a case.

    PubMed

    Kirzioglu, Zuhal; Ertürk, Münciye Semra Ozay

    2006-02-15

    Van der Woude syndrome (VWS) is a rare autosomal dominant disorder that is characterized by a cleft lip and palate with congenital lip pits. This is a report of a case of VWS with sinuses in the lower lip, a cleft in the upper lip, and a supernumerary tooth in the maxilla. The main characteristics of this disorder are discussed. Dental treatment of the patient was performed, but the surgical removal of the sinus was rejected by the parents. This case report brings this condition to the attention of dentists and surgeons and emphasizes lip pits may not always be identical in appearance. PMID:16491156

  19. Epidemiology of orofacial clefts in the East of ireland in the 25-year period 1984-2008.

    PubMed

    McDonnell, Robert; Owens, Miriam; Delany, Caroline; Earley, Michael; McGillivary, Anne; Orr, David J; Duggan, Laura

    2014-07-01

    Objective : To describe the epidemiology of orofacial clefts in the east of Ireland. Design and Setting : A descriptive epidemiologic study on 851 cases of orofacial cleft identified over a 25-year period from 1984 to 2008 from more than 500,000 births. Results : There were 438 (51.5%) cases of cleft lip with or without cleft palate and 413 (48.5%) cases of cleft palate. The total birth prevalence was 16.0 per 10,000 births for all orofacial clefts, 8.2 for cleft lip with or without cleft palate, and 7.8 for cleft palate. Of all cases, 63.7% (542/851) occurred as isolated anomalies, 21.5% (183/851) were associated with multiple anomalies, and 14.8% (126/851) were associated with a syndrome or chromosomal anomaly. A significantly increasing trend over the 25-year period was observed for cleft lip with or without cleft palate associated with syndromes or chromosomal anomalies among mothers younger than 35 years but not in those older than 35 years. Conclusion : A slightly higher rate of orofacial clefts was observed in the east of Ireland than was observed in European and multinational studies during the study period, and there were higher rates of cleft palate. The rising trend in the proportion of mothers aged 35 years or older in Ireland is not contributing significantly to orofacial clefts associated with chromosomal syndromes.

  20. Laryngotracheoesophageal clefts.

    PubMed

    Strychowsky, Julie E; Rahbar, Reza

    2016-06-01

    Laryngotracheoesophageal clefts are rare congenital anomalies of the aerodigestive tract. Patients may present with airway and/or swallowing impairments. An approach to evaluation and management is presented. Important pearls for conservative and surgical management are discussed. Open versus endoscopic surgical techniques are reviewed. PMID:27301597

  1. Cleft palate - resources

    MedlinePlus

    Resources - cleft palate ... The following organizations are good resources for information on cleft palate : Cleft Palate Foundation -- www.cleftline.org March of Dimes -- www.marchofdimes.com/professionals/14332_1210.asp ...

  2. Lip augmentation.

    PubMed

    Byrne, Patrick J; Hilger, Peter A

    2004-02-01

    Lip augmentation has become increasingly popular in recent years as a reflection of cultural trends emphasizing youth and beauty. Techniques to enhance the appearance of the lips have evolved with advances in biotechnology. An understanding of lip anatomy and aesthetics forms the basis for successful results. We outline the pertinent anatomy and aesthetics of the preoperative evaluation. A summary of various filler materials available is provided. Augmentation options include both injectable and open surgical techniques. The procedures and materials currently favored by the authors are described in greater detail.

  3. Articulation patterns and speech intelligibility of 54 Vietnamese children with unoperated oral clefts: clinical observations and impressions.

    PubMed

    Landis, P; Thi-Thu-Cuc, P

    1975-04-01

    Evaluations of the articulation patterns and speech intelligibility of 54 Vietnamese children with unrepaired oral clefts indicate a relationship between the type of oral cleft and the proficiency of speech skills attained. The results of the study suggest that consideration of the type of oral cleft and the specific kinds of articulation errors exhibited by the patient may be of value in planning the surgical habilitation of older children and adults with unrepaired clefts of the lip and palate.

  4. Oral cleft prevention program (OCPP)

    PubMed Central

    2012-01-01

    Background Oral clefts are one of the most common birth defects with significant medical, psychosocial, and economic ramifications. Oral clefts have a complex etiology with genetic and environmental risk factors. There are suggestive results for decreased risks of cleft occurrence and recurrence with folic acid supplements taken at preconception and during pregnancy with a stronger evidence for higher than lower doses in preventing recurrence. Yet previous studies have suffered from considerable design limitations particularly non-randomization into treatment. There is also well-documented effectiveness for folic acid in preventing neural tube defect occurrence at 0.4 mg and recurrence with 4 mg. Given the substantial burden of clefting on the individual and the family and the supportive data for the effectiveness of folic acid supplementation as well as its low cost, a randomized clinical trial of the effectiveness of high versus low dose folic acid for prevention of cleft recurrence is warranted. Methods/design This study will assess the effect of 4 mg and 0.4 mg doses of folic acid, taken on a daily basis during preconception and up to 3 months of pregnancy by women who are at risk of having a child with nonsyndromic cleft lip with/without palate (NSCL/P), on the recurrence of NSCL/P. The total sample will include about 6,000 women (that either have NSCL/P or that have at least one child with NSCL/P) randomly assigned to the 4 mg and the 0.4 mg folic acid study groups. The study will also compare the recurrence rates of NSCL/P in the total sample of subjects, as well as the two study groups (4mg, 0.4 mg) to that of a historical control group. The study has been approved by IRBs (ethics committees) of all involved sites. Results will be disseminated through publications and presentations at scientific meetings. Discussion The costs related to oral clefts are high, including long term psychological and socio-economic effects. This study provides an opportunity for

  5. Oral clefts: a retrospective study of prevalence and predisposal factors in the State of Mexico.

    PubMed

    González, Blanca S; López, María L; Rico, Martha A; Garduño, Fernando

    2008-06-01

    The purpose of this study was to up-date the records concerning oral clefts (OCs) encountered at the Child Hospital of the Maternal Infantile Institute of the State of México, and to examine the association of predisposing factors. A retrospective study of the medical records of patients generated over a 5-year period was carried out. A total of 835 files were reviewed, representing 504 boys and 331 girls. The studied variables were the type of oral clefts and predisposing factors. Kendal correlations at P < or = 0.05 and chi-squared at P < or = 0.05 were used to find any associations between variables. The distribution of oral cleft was: cleft lip and palate (CLP) 70%, cleft palate (CP) 21%, cleft lip (CL) 8%, separate cleft lip and cleft palate 1%. The sex ratios were 1.7 for CLP, 1.7 for CL, and 1 for CP. Municipalities with ethnic groups as well as industrial, agricultural and pottery activities showed a high rate of prevalence. Although there was no significant association with birth weight, familial history of clefting, consanguinity, medication usage during pregnancy, or paternal occupational risk, the results suggested that the most severe clefts were proportionally related to these factors. A significant association with maternal and paternal age, abortion rate, and parity was found. Additionally, maternal agricultural activities suggested that pesticide exposure might be a factor. PMID:18587200

  6. Investigations on the palatal rugae pattern in cleft patients. Part I: A morphological analysis.

    PubMed

    Kratzsch, H; Opitz, C

    2000-01-01

    The characteristics of the palatal rugae zone (number of rugae, relief type, posterior limitation) were investigated on the maxillary casts of 44 patients with unilateral cleft lip and palate and 28 patients with bilateral clefts by means of reflex microscopy, a three-dimensional, computer-assisted, touch-free measuring system for the metrical registration and analysis of the parameters directly on the maxillary casts for the segments of the 2 cleft groups. The features "number of palatal rugae" and "relief type" (primary rugae) were determined both before and after surgical repair of the cleft palate. Both segments in unilateral cleft lip and palate and both lateral segments in bilateral clefts most commonly had 4 to 5 palatal rugae. The number of rugae in cleft patients is thus in a range that other authors have reported for non-cleft individuals. Following palatal cleft repair, the rugae counts per segment decreased significantly in patients with unilateral and bilateral cleft lip and palate but the 3rd rugae was never lost after surgery. The relief type identified in unilateral and bilateral cleft lip and palate was the same as in isolated cleft palates and did not differ from that in non-cleft subjects. The posterior limitation of the palatal rugae zone was determined both in a tooth-defined manner and as an absolute linear distance (at all time points). The most frequent tooth-defined posterior limitation of the rugae zone in unilateral and bilateral clefts was the second deciduous molar, which is also the position identified for non-cleft individuals. The linear distance from the tuberosity line to the rugae zone increased in all segments of unilateral and bilateral clefts during the interval up to palatal cleft repair, indicating sagittal maxillary development in the posterior area of the palate. Surgical repair of the cleft palate resulted in a significant shortening of the distance in both segments of the unilateral cleft, most likely due to the

  7. An extraorally activated expansion appliance for cleft palate infants.

    PubMed

    Latham, R A; Kusy, R P; Georgiade, N G

    1976-07-01

    A new lever-action expansion appliance is described which is designed specifically for use in infants with cleft lip and palate. An extraoral control knob allows for easy activation, while the important anterior cleft areas are left clear for premaxillary repositioning and clinical assessment. Activation is registered by a positive clicking sound. Rapid expansion is made possible by the design of the appliance which is retained by stainless steel pins. PMID:780004

  8. The caries prevalence of oral clefts in eastern China

    PubMed Central

    Xiao, Wen-Lin; Zhang, Dai-Zun; Xu, Yao-Xiang

    2015-01-01

    Little information is available concerning the prevalence of caries among patients with oral clefts in Eastern China. Consecutive patients aged 6-18 with oral clefts were recruited. Patients were stratified into 2 groups according to their ages, namely Group I with aged 6-12 and Group II with aged 13-18. For each age group, the children were further divided into three subgroups according to the types of oral clefts they had: cleft lip/cleft lip and alveolus (CL), cleft palate only (CP), and cleft lip and palate (CLP). Dental caries were examined by using the decayed, missing, and filled index for primary teeth (dmft) and Decay, Missing and Filled index for Permanent teeth (DMFT) according to criteria of the World Health Organization. 268 eligible patients with oral clefts were included in the study. The mean DMFT for Group I was 1.77 (SD2.58) while that for Group II was 6.96 (SD4.35). The mean DMFT was statistically significant different between the age group I and age group II (t=12.21, P<0.05). In Group I, the dmft scores was 4.68 (SD3.67) for CL group, while that for the CP group was 7.36 (SD3.93), and that for the CLP group was 5.72 (SD 3.87). The mean dmft was no statistically significant different among cleft types (F=3.13, P>0.05). Also in Group I, the mean DMFT was 1.56 (SD2.18) for CL group, while that for the CP group was 1.24 (SD 1.81) and that for the CLP group was 2.08 (SD2.96). There were no statistically significant different in mean DMFT among different cleft types (F=1.09, P>0.05). In Group II, the mean DMFT was 6.06 (SD3.97) for CL group while that for the CP group was 7.71 (SD 4.94) and that for the CLP group was 7.05 (SD4.32). No significant difference was shown in the mean DMFT among different cleft groups (CL, CP, and CLP) (F=0.55, P>0.05). During assess the prevalence of dental caries among Eastern Chinese with oral clefts; the study confirmed that the prevalence of caries was increased with increasing age for oral clefts patients. It was

  9. The Correlation between Maternal Exposure to Air Pollution and the Risk of Orofacial Clefts in Infants: a Systematic Review and Meta-Analysis

    PubMed Central

    Rao, Ajit; Ahmed, Mairaj K.; Taub, Peter J.

    2016-01-01

    ABSTRACT Objectives The authors performed a systematic review and meta-analysis to investigate the possible correlation between ambient air pollution and orofacial cleft anomalies in newborns. Material and Methods A literature search was performed using the PubMed and Google Scholar, using the keywords “air pollution”, “cleft lip”, “cleft palate”, “carbon monoxide”, “ozone”, “sulfur dioxide”, “nitrogen oxide”, “nitrogen dioxide”, and “aerodynamic diameter”. Eight epidemiologic articles met the criteria of correlating either carbon monoxide (CO), ozone (O3), nitrogen oxides (NOx), airborne particulate matter of less than 10 µm in diameter (PM10), or sulfur dioxide (SO2) exposures with clefting of the palate alone, clefting of the lip alone, or clefting of the lip and palate. Odds ratios were extracted from the eight studies and tabulated in this meta-analysis. Quality analysis showed six high quality, one medium quality, and one low quality study. Results Meta-analysis of the combined data confirmed the association of O3 exposure and risk of orofacial cleft anomalies (OR = 1.08; P = 0.02). NOx was consistently associated with decreased risk of cleft lip with or without palate and cleft palate. Conclusions Ozone showed the strongest correlation with cleft lip and cleft palate anomalies. However, the studies overall showed an inconsistent correlation between orofacial clefts and air pollutants. PMID:27099696

  10. Cortical Clefts and Cortical Bumps: A Continuous Spectrum

    PubMed Central

    Furruqh, Farha; Thirunavukarasu, Suresh; Vivekandan, Ravichandran

    2016-01-01

    Cortical ‘clefts’ (schizencephaly) and cortical ‘bumps’ (polymicrogyria) are malformations arising due to defects in postmigrational development of neurons. They are frequently encountered together, with schizencephalic clefts being lined by polymicrogyria. We present the case of an eight-year-old boy who presented with seizures. Imaging revealed closed lip schizencephaly, polymicrogyria and a deep ‘incomplete’ cleft lined by polymicrogyria not communicating with the lateral ventricle. We speculate that hypoperfusion or ischaemic cortical injury during neuronal development may lead to a spectrum of malformations ranging from polymicrogyria to incomplete cortical clefts to schizencephaly. PMID:27630923

  11. Spectrographic analysis of pain cry in neonates with cleft palate.

    PubMed

    Michelsson, K; Sirviö, P; Koivisto, M; Sovijärvi, A; Wasz-Höckert, O

    1975-01-01

    52 phonations of 13 cleft palate neonates were analyzed by sound spectrographic methods. 17 phonetical attributes were included in the study and the first signal after the pain stimulus was analyzed. The cries of the cleft palate infants were compared with the crying of 75 normal babies of the same age. No change in the fundamental frequency, melody type and duration of the cries was seen in association with these anatomical defects. Two of the characteristics studied, vibrato and the 'tonal pit', occurred significantly more often in cries of the cleft palate infants than in cries of the control series. The changes in the qualities seen in association with cleft palate and/or cleft lip do not mimic the abnormalities produced by brain damage.

  12. Facial aesthetics and perceived need for further treatment among adults with repaired cleft as assessed by cleft team professionals and laypersons.

    PubMed

    Foo, Peter; Sampson, Wayne; Roberts, Rachel; Jamieson, Lisa; David, David

    2013-06-01

    The objectives of this study were to compare the ratings of professionals and laypeople with and without a cleft regarding the facial aesthetics of adult patients previously treated for orofacial clefting. The necessity for further treatment, as perceived by the respective groups, is also compared. The design of the study was a cross-sectional study. Professionals (two plastic surgeons, one dentist, one orthodontist, and one psychologist) and laypeople (one male and one female adult without a cleft and one male and one female adult with a cleft) were recruited to rate photographs of 80 non-syndromic cleft patients treated by the Australian Craniofacial Unit from 1975 to 2009. Facial aesthetics were measured by a visual analogue scale (VAS; 0-100 mm). High values indicated good aesthetics. Necessity for further treatment was also measured by a VAS (0-100 mm). High values indicated high perceived need for further treatment. The professionals rated facial aesthetics significantly lower and had a lower perception of need for further treatment than the raters with and without a cleft. The laypeople with a cleft rated facial aesthetics significantly higher and had a lower perceived need for further treatment than laypeople without a cleft. The non-surgical professionals rated facial aesthetics significantly lower and had a lower perceived need for further treatment than the surgical professionals. Differences exist in the facial aesthetics ratings and perceived need for further surgery between professionals and laypeople with and without a cleft. This should be considered when managing cleft treatment expectations.

  13. Speech and language therapy interventions for children with cleft palate: a systematic review.

    PubMed

    Bessell, Alyson; Sell, Debbie; Whiting, Penny; Roulstone, Sue; Albery, Liz; Persson, Martin; Verhoeven, Andrea; Burke, Margaret; Ness, Andy R

    2013-01-01

    Objective :  (1) To examine the evidence for the effectiveness of differences in timing and type of speech and language therapy for children with cleft palate with or without a cleft lip and (2) to identify types of interventions assessed. Design :  Nine databases, including MEDLINE and EMBASE, were searched between inception and March 2011 to identify published articles relating to speech and language therapy for children with cleft palate with or without cleft lip. Studies that included at least 10 participants and reported outcome measures for speech and/or language measures were included. Studies where the experimental group had less than 90% of children with cleft palate with or without cleft lip were excluded. Two reviewers independently completed inclusion assessment, data extraction, and risk of bias assessment for all studies identified. Results :  A total of 17 papers were evaluated: six randomized control trials and 11 observational studies. Studies varied widely on risk of bias, intervention used, and outcome measures reported. None of the studies had a low risk of bias. In terms of intervention approaches, seven studies evaluated linguistic approaches and 10 evaluated motor approaches. Outcomes measures did not support either approach over the other, and based on data reported it was difficult to ascertain which approach is more effective for children with cleft palate with or without cleft lip. Conclusions :  The review found little evidence to support any specific intervention. Key uncertainties need to be identified and adequately powered, methodologically rigorous studies conducted to provide a secure evidence base for speech-language therapy practice in children with cleft palate with or without cleft lip.

  14. Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting.

    PubMed

    Howe, B J; Cooper, M E; Vieira, A R; Weinberg, S M; Resick, J M; Nidey, N L; Wehby, G L; Marazita, M L; Moreno Uribe, L M

    2015-07-01

    Children with oral clefts show a wide range of dental anomalies, adding complexity to understanding the phenotypic spectrum of orofacial clefting. The evidence is mixed, however, on whether the prevalence of dental anomalies is elevated in unaffected relatives and is mostly based on small samples. In the largest international cohort to date of children with nonsyndromic clefts, their relatives, and controls, this study characterizes the spectrum of cleft-related dental anomalies and evaluates whether families with clefting have a significantly higher risk for such anomalies compared with the general population. A total of 3,811 individuals were included: 660 cases with clefts, 1,922 unaffected relatives, and 1,229 controls. Dental anomalies were identified from in-person dental exams or intraoral photographs, and case-control differences were tested using χ(2) statistics. Cases had higher rates of dental anomalies in the maxillary arch than did controls for primary (21% vs. 4%, P = 3 × 10(-8)) and permanent dentitions (51% vs. 8%, P = 4 × 10(-62)) but not in the mandible. Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types. More anomalies were seen in the ipsilateral side of the cleft. Agenesis and tooth displacements were the most common dental anomalies found in case probands for primary and permanent dentitions. Compared with controls, unaffected siblings (10% vs. 2%, P = 0.003) and parents (13% vs. 7%, P = 0.001) showed a trend for increased anomalies of the maxillary permanent dentition. Yet, these differences were nonsignificant after multiple-testing correction, suggesting genetic heterogeneity in some families carrying susceptibility to both overt clefts and dental anomalies. Collectively, the findings suggest that most affected families do not have higher genetic risk for dental anomalies than the general population and that the higher prevalence of anomalies in cases is primarily a physical consequence of the

  15. Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting

    PubMed Central

    Howe, B.J.; Cooper, M.E.; Vieira, A.R.; Weinberg, S.M.; Resick, J.M.; Nidey, N.L.; Wehby, G.L.; Marazita, M.L.

    2015-01-01

    Children with oral clefts show a wide range of dental anomalies, adding complexity to understanding the phenotypic spectrum of orofacial clefting. The evidence is mixed, however, on whether the prevalence of dental anomalies is elevated in unaffected relatives and is mostly based on small samples. In the largest international cohort to date of children with nonsyndromic clefts, their relatives, and controls, this study characterizes the spectrum of cleft-related dental anomalies and evaluates whether families with clefting have a significantly higher risk for such anomalies compared with the general population. A total of 3,811 individuals were included: 660 cases with clefts, 1,922 unaffected relatives, and 1,229 controls. Dental anomalies were identified from in-person dental exams or intraoral photographs, and case-control differences were tested using χ2 statistics. Cases had higher rates of dental anomalies in the maxillary arch than did controls for primary (21% vs. 4%, P = 3 × 10−8) and permanent dentitions (51% vs. 8%, P = 4 × 10−62) but not in the mandible. Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types. More anomalies were seen in the ipsilateral side of the cleft. Agenesis and tooth displacements were the most common dental anomalies found in case probands for primary and permanent dentitions. Compared with controls, unaffected siblings (10% vs. 2%, P = 0.003) and parents (13% vs. 7%, P = 0.001) showed a trend for increased anomalies of the maxillary permanent dentition. Yet, these differences were nonsignificant after multiple-testing correction, suggesting genetic heterogeneity in some families carrying susceptibility to both overt clefts and dental anomalies. Collectively, the findings suggest that most affected families do not have higher genetic risk for dental anomalies than the general population and that the higher prevalence of anomalies in cases is primarily a physical consequence of the cleft

  16. Oral Clefting in China Over the Last Decade: 205,679 Patients

    PubMed Central

    Kling, Rochelle R.; Taub, Peter J.; Ye, Xiaoqian

    2014-01-01

    Background: China is the most populated country and has one of the highest prevalences of oral clefting. The present study reports the epidemiology and surgical procedures performed on the largest reported cohort of individuals with clefting in China. Methods: A retrospective review of patients who received cleft repair through Smile Train in China from 2000 to 2011 was conducted. Data on demographics, cleft characteristics, associated malformations, pregnancy and family history, and surgical technique were analyzed using SPSS (IBM, Chicago, Ill.). Results: A total of 205,679 patients underwent 209,169 cleft procedures. Cleft lip and palate (42.7%) was most common followed by isolated cleft palate (32.4%) and isolated cleft lip (24.9%). Males accounted for 63.5% of cases. The average age at initial surgery was 6.12 years. By 2011, this decreased to 1.8 years of age for lip repair and to 5.9 years of age for palate repair. The preferred techniques were rotation-advancement (55%) for unilateral lip repair and Von-Langenbeck (38%) and pushback (39%) for palate repair. The percentages of cases with associated anomalies and surgical complications were 12.8% and 0.36%, respectively. Conclusions: This study provides insight into cleft care in China as it reports the largest cohort of cleft patients treated by surgeons to date. Our results generally follow trends previously reported in China and developed countries. The male:female ratio for cleft palate patients was higher than expected. The average age at primary repair is higher than recommended, but seems to be decreasing. PMID:25426353

  17. Nasoalveolar Molding in Cleft Care—Experience in 40 Patients from a Single Centre in Germany

    PubMed Central

    Rau, Andrea; Ritschl, Lucas M.; Mücke, Thomas; Wolff, Klaus-Dietrich; Loeffelbein, Denys J.

    2015-01-01

    Nasoalveolar molding (NAM) has gained wide acceptance and evidence in cleft therapy. However, standardized treatment protocols and experiences recorded from European centres are lacking. The results of 40 infants with cleft lip and palate treated with presurgical NAM according to the Grayson technique were analyzed. Standardized parameters of