WorldWideScience

Sample records for non-syndromic oral clefts

  1. Psychiatric Diagnoses in Individuals with Non-Syndromic Oral Clefts

    DEFF Research Database (Denmark)

    Pedersen, Dorthe Almind; Wehby, George L; Murray, Jeffrey C

    2016-01-01

    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...

  2. A cross-sectional analysis of the prevalence of tooth agenesis and structural dental anomalies in association with cleft type in non-syndromic oral cleft patients.

    Science.gov (United States)

    Konstantonis, Dimitrios; Alexandropoulos, Alexandros; Konstantoni, Nikoleta; Nassika, Maria

    2017-12-01

    The aim of this study was to investigate the prevalence of tooth agenesis, microdontia, and tooth malformation among non-syndromic oral cleft patients and their potential association with cleft type and gender. Intraoral records and radiographs of 154 patients (97 males and 57 females) were examined. The variables assessed were tooth agenesis, microdontia, dental malformations, and cleft types. The statistics included chi-square and Fisher's exact tests as well as logistic regression to assess any mutual effects of gender and cleft type on the dental variables. Tooth agenesis occurred in 50% of the sample and microdontia in 18%. Non-statistically significant odds ratios for the association of gender and cleft type with tooth agenesis were obtained. Tooth agenesis was substantially higher at the unilateral right CL + P and the bilateral CL + P in quadrant 1 and at the unilateral left CL + P and bilateral CL + P in quadrant 2. It was also higher, at the isolated cleft palate (CP) in quadrants 3 and 4. These results were attributed to teeth 22 (31.8%) and 12 (21.6%) in the maxilla and to teeth 35 (6.1%) and 45 (5.4%) in the mandible. In unilateral CL + P patients, the cleft quadrant that presented tooth agenesis was associated with the side of the cleft. Interdisciplinary treatment of the oral cleft patients should take into consideration the high prevalence of tooth agenesis and their association with the different cleft types. The most frequently affected teeth by cleft are by far the upper lateral incisors. Results indicate that tooth agenesis appears to be a genetically controlled anomaly related to the orofacial cleft development through various genetic links and not caused by the cleft disruptive process.

  3. Non-syndromic oral clefts and risk of cancer: a systematic review

    Directory of Open Access Journals (Sweden)

    Daniela Araújo Veloso Popoff

    2013-08-01

    Full Text Available Objective: To discuss the risk of cancer among relatives of individuals with cleft lip and palate (CL/P, as well as the risk of CL/P among relatives of individuals with cancer, since studies published currently have suggested  an increased risk of cancer among relatives of cleft individuals. Design: A systematic literature review was carried out in accordance with the Cochrane Collaboration Group protocol, including literature search strategy, selection of papers through the inclusion and exclusion criteria, data extraction and quality assessment. PubMed, Scopus and ISI - Web of Science databases were systematically searched using the fallowing search strings: “cleft lip and palate” AND “cancer”, “oral clefts” AND “cancer” and “orofacial clefts” AND “cancer”. Results: From 653 studies accessed, 8 comprised the final sample: 6 investigating CL/P index cases and their family history of cancer and 2 investigating individuals with cancer and their family history for CL/P. The sample sizes were not homogeneous. Oral clefts, the type of cancer and the degree of kinship family were not categorized in all studies. Leukemia, breast cancer and colon cancer were the most cited types, even as first-and-second degree relatives. Conclusions: An increased risk of cancer among relatives of cleft individuals could not be entirely confirmed. However, studies with this specific purpose suggest that first-and-second degrees relatives of cleft individuals have some types of cancer more often than unexposed families, highlighting that future studies should expand their samples to investigate possible common molecular mechanisms that allow relating oral clefts and cancer.

  4. Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate.

    Science.gov (United States)

    Dentino, K M; Valstar, A; Padwa, B L

    2016-06-01

    The goal of this study was to describe the clinical characteristics and treatment outcomes of patients with hemifacial microsomia (HFM) and cleft lip/palate (CL/P), and to compare them to a historic cohort of patients with non-syndromic CL/P treated at the same centre. A retrospective review of patients with HFM and CL/P was performed; the main outcome measures assessed were cleft type/side, surgical outcome, midfacial retrusion, and speech. Twenty-six patients (13 male, 13 female; mean age 22.7±14.9, range 1-52 years) with cleft lip with/without cleft palate (CL±P) were identified: three with cleft lip (12%), two with cleft lip and alveolus and an intact secondary palate (8%), and 21 with cleft lip and palate (CLP) (81%; 15 unilateral and six bilateral). Four patients (19%) had a palatal fistula after palatoplasty. Twelve of 22 patients aged >5 years (55%) had midfacial retrusion and two (9%) required a pharyngeal flap for velopharyngeal insufficiency (VPI). Fisher's exact test demonstrated a higher frequency of complete labial clefting (P=0.004), CLP (P=0.009), midfacial retrusion (P=0.0009), and postoperative palatal fistula (P=0.03) in HFM compared to non-syndromic CL±P. There was no difference in VPI prevalence. This study revealed that patients with HFM and CL±P have more severe forms of orofacial clefting than patients with non-syndromic CL±P. Patients with HFM and CL±P have more severe midfacial retrusion and a higher palatal fistula rate compared to patients with non-syndromic CL±P. Copyright © 2015 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  5. IRF6 mutation screening in non-syndromic orofacial clefting

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Koboldt, Daniel C; Kang, C. J.

    2016-01-01

    -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...

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

    Energy Technology Data Exchange (ETDEWEB)

    Wyszynski, D.F. [Johns Hopkins Univ., Baltimore, MD (United States)]|[National Center for Human Genome Research, Bethesda, MD (United States); Lewanda, A.F. [Johnson Hopkins Hospital, Baltimore, MD (United States)]|[Children`s National Medical Center, Washington, DC (United States); Beaty, T.H. [Johns Hopkins Univ., Balitomre, MD (United States)

    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.

  7. Prevalence and characteristics of non-syndromic orofacial clefts and the influence of consanguinity.

    Science.gov (United States)

    Alamoudi, N M; Sabbagh, H J; Innes, N P T; El Derwi, D; Hanno, A Z; Al-Aama, J Y; Habiballah, A H; Mossey, P A

    2014-01-01

    The Objective of this study was to identify the prevalence and describe the characteristics of non-syndromic orofacial cleft (NSOFC) in Jeddah, Saudi Arabia and examine the influence of consanguinity. Six hospitals were selected to represent Jeddah's five municipal districts. New born infants with NSOFC born between 1st of January 2010 to 31st of December 2011 were clinically examined and their number compared to the total number of infants born in these hospitals to calculate the prevalence of NSOFC types and sub-phenotypes. Referred Infants were included for the purpose of studying NSOFC characteristics and their relationship to consanguinity. Information on NSOFC infants was gathered through parents' interviews, infants 'files and patient examinations. Prospective surveillance of births resulted in identifying 37 NSOFC infants born between 1st of January 2010 to 31st of December 2011 giving a birth prevalence of 0.80/1000 living births. The total infants seen, including referred cases, were 79 children. Consanguinity among parents of cleft palate (CP) cases was statistically higher than that among cleft lip with or without cleft palate (CL/P) patients (P = 0.039). Although there appears to be a trend in the relationship between consanguinity and severity of CL/P sub-phenotype, it was not statistically significant (P = 0.248). Birth prevalence of NSOFC in Jeddah City was 0.8/1000 live births with CL/P: 0.68/1000 and CP: 0.13/1000. Both figures were low compared to the global birth prevalence (NSOFC: 1.25/1000, CL/P: 0.94/1000 and CP: 0.31/1000 live births). Consanguineous parents were statistically higher among CP cases than among other NSOFC phenotypes.

  8. Oral Clefts and Academic Performance in Adolescence

    DEFF Research Database (Denmark)

    Clausen, Nicola G; Pedersen, Dorthe A; Pedersen, Jacob K

    2017-01-01

    OBJECTIVE:   Early life exposure to anesthesia and surgery is suspected to associate with cognitive impairment later in life. We compared academic achievement among adolescents with cleft lip only (CL), cleft palate only (CP), and cleft lip and cleft palate (CLP) with a noncleft control group to ......:   Oral cleft type rather than number and timing of anesthesia and operations associate to poorer academic performance. Although a potential neurotoxic effect due to anesthetic agents is not reflected in the data, it cannot be completely excluded.......OBJECTIVE:   Early life exposure to anesthesia and surgery is suspected to associate with cognitive impairment later in life. We compared academic achievement among adolescents with cleft lip only (CL), cleft palate only (CP), and cleft lip and cleft palate (CLP) with a noncleft control group...

  9. MSX ₁ gene variant and non-syndromic clefting: association or rejection?

    Science.gov (United States)

    Reddy, Naveen Admala; Gopinath, Adusumilli; Reddy, Jayaprakash Thirumala; Devanna, Raghu; Saravanan, Pichai; Rohra, Mayur G

    2014-01-01

    Non-syndromic cleft lip/palate (NSCL/P) is a congenital anomaly with significant medical, psychological and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes. The aim of this study is to amplify the chosen region (799 G >T) of MSX 1 gene, investigate the degree of association and perform a mutation research from Raichur cleft lip and palate patient sample. Case history and clinical examination of the patient were recorded to rule. Written consent was obtained from patients and controls for in vivo study. STUDY WAS DESIGNED IN FOUR STEPS AS FOLLOWS: a. Collection of a blood sample; b. Genomic deoxyribonucleic acid (DNA) extraction; c. Polymerase chain reaction (PCR); d. Restriction fragment length polymorphism (RFLP). Blood samples were collected from 50 subjects having NSCL/P and 50 controls. Genomic DNA was extracted, PCR and RFLP was performed for digestion products that were evaluated. Chi-square test with P value at 95% confidence intervals. The results showed a positive correlation between MSX 1 799 G >T gene variant and NSCL/P patients in Raichur patients. From a genetically diverse etiology MSX 1 799 G >T gene variant may be a good screening marker for NSCL/P in Raichur patients.

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

    Energy Technology Data Exchange (ETDEWEB)

    Daack-Hirsch, S.; Basart, A.; Frischmeyer, P. [Univ. of Iowa, IA (United States)] [and others

    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.

  11. Maternal occupational risk factors for oral clefts

    NARCIS (Netherlands)

    Lorente, C; Cordier, S; Bergeret, A; De Walle, HEK; Goujard, J; Ayme, S; Knill-Jones, R; Calzolari, E

    Objectives This study investigated the role of maternal exposures at work during pregnancy in the occurrence of oral clefts. Methods The occupational exposures of 851 women (100 mothers of babies with oral clefts and 751 mothers of healthy referents) who worked during the first trimester of

  12. A discriminant analysis prediction model of non-syndromic cleft lip with or without cleft palate based on risk factors.

    Science.gov (United States)

    Li, Huixia; Luo, Miyang; Luo, Jiayou; Zheng, Jianfei; Zeng, Rong; Du, Qiyun; Fang, Junqun; Ouyang, Na

    2016-11-23

    A risk prediction model of non-syndromic cleft lip with or without cleft palate (NSCL/P) was established by a discriminant analysis to predict the individual risk of NSCL/P in pregnant women. A hospital-based case-control study was conducted with 113 cases of NSCL/P and 226 controls without NSCL/P. The cases and the controls were obtained from 52 birth defects' surveillance hospitals in Hunan Province, China. A questionnaire was administered in person to collect the variables relevant to NSCL/P by face to face interviews. Logistic regression models were used to analyze the influencing factors of NSCL/P, and a stepwise Fisher discriminant analysis was subsequently used to construct the prediction model. In the univariate analysis, 13 influencing factors were related to NSCL/P, of which the following 8 influencing factors as predictors determined the discriminant prediction model: family income, maternal occupational hazards exposure, premarital medical examination, housing renovation, milk/soymilk intake in the first trimester of pregnancy, paternal occupational hazards exposure, paternal strong tea drinking, and family history of NSCL/P. The model had statistical significance (lambda = 0.772, chi-square = 86.044, df = 8, P Self-verification showed that 83.8 % of the participants were correctly predicted to be NSCL/P cases or controls with a sensitivity of 74.3 % and a specificity of 88.5 %. The area under the receiver operating characteristic curve (AUC) was 0.846. The prediction model that was established using the risk factors of NSCL/P can be useful for predicting the risk of NSCL/P. Further research is needed to improve the model, and confirm the validity and reliability of the model.

  13. A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R

    2016-01-01

    Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental fac...

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

    Science.gov (United States)

    Ma, Xiaoran; McPherson, Bradley; Ma, Lian

    2016-01-01

    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. 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. 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. 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 with cleft disorders, further research

  15. Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate.

    Directory of Open Access Journals (Sweden)

    Gerson Shigeru Kobayashi

    Full Text Available 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.

  16. Risk of Oral Clefts in Twins

    DEFF Research Database (Denmark)

    Grosen, Dorthe; Bille, Camilla; Petersen, Inge

    2011-01-01

    and heritability. Twins (207 affected/130,710) and singletons (7766 affected/4,798,526) born from 1936 through 2004 in Denmark were ascertained by linkage among the Danish Facial Cleft Database, the Danish Twin Registry, and the Civil Registration System. We computed oral cleft prevalence and prevalence proportion...

  17. Birth prevalence of non-syndromic orofacial clefts in Saudi Arabia and the effects of parental consanguinity

    Science.gov (United States)

    Sabbagh, Heba J.; Innes, Nicola P.; Sallout, Bahauddin I.; Alamoudi, Najlaa M.; Hamdan, Mustafa A.; Alhamlan, Nasir; Al-Khozami, Amaal I.; Abdulhameed, Fatma D.; Al-Aama, Jumana Y.; Mossey, Peter A.

    2015-01-01

    Objectives: To describe the characteristics and prevalence of non-syndromic orofacial clefting (NSOFC) and assess the effects of parental consanguinity on NSOFC phenotypes in the 3 main cities of Saudi Arabia. Methods: All infants (114,035) born at 3 referral centers in Riyadh, and 6 hospitals in Jeddah and Madinah between January 2010 and December 2011 were screened. The NSOFC cases (n=133) were identified and data was collected through clinical examination and records, and information on consanguinity through parent interviews. The diagnosis was confirmed by reviewing medical records and contacting the infants’ pediatricians. Control infants (n=233) matched for gender and born in the same hospitals during the same period, were selected. Results: The prevalence of NSOFC was 1.07/1000 births in Riyadh, and 1.17/1000 births overall; cleft lip (CL) was 0.47/1000 births, cleft lip and palate (CLP) was 0.42/1000 births, and cleft palate (CP) was 0.28/1000 births. Cleft palate was significantly associated with consanguinity (p=0.047, odds ratio: 2.5, 95% confidence interval: 1 to 6.46), particularly for first cousin marriages. Conclusion: The birth prevalence of NSOFC in Riyadh alone, and in the 3 main cities of Saudi Arabia were marginally lower than the mean global prevalence. While birth prevalence for CLP was comparable to global figures, the CL:CLP ratio was high, and only CP was significantly associated with consanguinity. PMID:26318465

  18. Birth prevalence of non-syndromic orofacial clefts in Saudi Arabia and the effects of parental consanguinity

    Directory of Open Access Journals (Sweden)

    Heba J. Sabbagh

    2015-09-01

    Full Text Available Objectives: To describe the characteristics and prevalence of non-syndromic orofacial clefting (NSOFC and assess the effects of parental consanguinity on NSOFC phenotypes in the 3 main cities of Saudi Arabia. Methods: All infants (114,035 born at 3 referral centers in Riyadh, and 6 hospitals in Jeddah and Madinah between January 2010 and December 2011 were screened. The NSOFC cases (n=133 were identified and data was collected through clinical examination and records, and information on consanguinity through parent interviews. The diagnosis was confirmed by reviewing medical records and contacting the infants’ pediatricians. Control infants (n=233 matched for gender and born in the same hospitals during the same period, were selected. Results: The prevalence of NSOFC was 1.07/1000 births in Riyadh, and 1.17/1000 births overall; cleft lip (CL was 0.47/1000 births, cleft lip and palate (CLP was 0.42/1000 births, and cleft palate (CP was 0.28/1000 births. Cleft palate was significantly associated with consanguinity (p=0.047, odds ratio: 2.5, 95% confidence interval: 1 to 6.46, particularly for first cousin marriages. Conclusion: The birth prevalence of NSOFC in Riyadh alone, and in the 3 main cities of Saudi Arabia were marginally lower than the mean global prevalence. While birth prevalence for CLP was comparable to global figures, the CL:CLP ratio was high, and only CP was significantly associated with consanguinity.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  20. 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.

    Science.gov (United States)

    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

    2015-11-01

    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. 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. 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. 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. 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. © 2015 The Authors. Orthodontics & Craniofacial Research Published by John Wiley & Sons Ltd.

  1. 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

    Science.gov (United States)

    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

  2. IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in south Indian population.

    Science.gov (United States)

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

    2017-06-26

    Transcription factors are very diverse family of proteins involved in activating or repressing the transcription of a gene at a given time. Several studies using animal models demonstrated the role of transcription factor genes in craniofacial development. We aimed to investigate the association of IRF6 intron-6 polymorphism in the non-syndromic cleft lip with or without Palate in a south Indian population. 173 unrelated nonsyndromic cleft lip with or without Palate patients and 176 controls without clefts patients were genotyped for IRF6 rs2235375 variant by allele-specific amplification using the KASPar single nucleotide polymorphism genotyping system. The association between interferon regulatory factor-6 gene intron-6 dbSNP208032210:g.G>C (rs2235375) single nucleotide polymorphism and non-syndromic cleft lip with or without palate risk was investigated by chi-square test. There were significant differences in genotype or allele frequencies of rs2235375 single nucleotide polymorphism between controls and cases with non-syndromic cleft lip with or without palate. IRF6 rs2235375 variant was significantly associated with increased risk of non-syndromic cleft lip with or without palate in co-dominant, dominant (OR: 1.19; 95% CI 1.03-2.51; p=0.034) and allelic models (OR: 1.40; 95% CI 1.04-1.90; p=0.028). When subset analysis was applied significantly increased risk was observed in cleft palate only group (OR dominant: 4.33; 95% CI 1.44-12.97; p=0.005). These results suggest that IRF6 rs2235375 SNP play a major role in the pathogenesis and risk of developing non-syndromic cleft lip with or without palate. Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  3. Association of common variants in PAH and LAT1 with non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Polish population.

    Science.gov (United States)

    Hozyasz, Kamil K; Mostowska, Adrianna; Wójcicki, Piotr; Lasota, Agnieszka; Wołkowicz, Anna; Dunin-Wilczyńska, Izabella; Jagodziński, Paweł P

    2014-04-01

    Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common structural malformation with a complex and multifactorial aetiology. Associations of abnormalities in phenylalanine metabolism and orofacial clefts have been suggested. Eight single nucleotide polymorphisms (SNPs) of genes encoding phenylalanine hydroxylase (PAH) and large neutral l-amino acid transporter type 1 (LAT1), as well as the PAH mutation that is most common in the Polish population (rs5030858; R408W), were investigated in 263 patients with NSCL/P and 270 matched controls using high resolution melting curve analysis (HRM). We found that two polymorphic variants of PAH appear to be risk factors for NSCL/P. The odds ratio (OR) for individuals with the rs7485331 A allele (AC or AA) compared to CC homozygotes was 0.616 (95% confidence interval [CI]=0.437-0.868; p=0.005) and this association remains statistically significant after multiple testing correction. The PAH rs12425434, previously associated with schizophrenia, was borderline associated with orofacial clefts. Moreover, haplotype analysis of polymorphisms in the PAH gene revealed a 4-marker combination that was significantly associated with NSCL/P. The global p-value for a haplotype comprised of SNPs rs74385331, rs12425434, rs1722392, and the mutation rs5030858 was 0.032, but this association did not survive multiple testing correction. This study suggests the involvement of the PAH gene in the aetiology of NSCL/P in the tested population. Further replication will be required in separate cohorts to confirm the consistency of the observed association. Copyright © 2014 Elsevier Ltd. All rights reserved.

  4. Risk of oral clefts in children born to mothers taking Topamax (topiramate)Risk of Oral Clefts (Cleft Lip and/or ...

    Science.gov (United States)

    ... Drug Safety and Availability FDA Drug Safety Communication: Risk of oral clefts in children born to mothers ... data that show that there is an increased risk for the development of cleft lip and/or ...

  5. Evidence for gene-environment interaction in a genome wide study of isolated, non-syndromic cleft palate

    Science.gov (United States)

    Beaty, Terri H.; Ruczinski, Ingo; Murray, Jeffrey C.; Marazita, Mary L.; Munger, Ronald G.; Hetmanski, Jacqueline B.; Murray, Tanda; Redett, Richard J.; Fallin, M. Daniele; Liang, Kung Yee; Wu, Tao; Patel, Poorav J.; Jin, Sheng C.; Zhang, Tian Xiao; Schwender, Holger; Wu-Chou, Yah Huei; Chen, Philip K; Chong, Samuel S; Cheah, Felicia; Yeow, Vincent; Ye, Xiaoqian; Wang, Hong; Huang, Shangzhi; Jabs, Ethylin W.; Shi, Bing; Wilcox, Allen J.; Lie, Rolv T.; Jee, Sun Ha; Christensen, Kaare; Doheny, Kimberley F.; Pugh, Elizabeth W.; Ling, Hua; Scott, Alan F.

    2011-01-01

    Non-syndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors. We conducted a genome wide association study (GWAS) using 550 case-parent trios, ascertained through a CP case collected in an international consortium. Family based association tests of single nucleotide polymorphisms (SNP) and three common maternal exposures (maternal smoking, alcohol consumption and multivitamin supplementation) were used in a combined 2 df test for gene (G) and gene-environment (G×E) interaction simultaneously, plus a separate 1 df test for G×E interaction alone. Conditional logistic regression models were used to estimate effects on risk to exposed and unexposed children. While no SNP achieved genome wide significance when considered alone, markers in several genes attained or approached genome wide significance when G×E interaction was included. Among these, MLLT3 and SMC2 on chromosome 9 showed multiple SNPs resulting in increased risk if the mother consumed alcohol during the peri-conceptual period (3 months prior to conception through the first trimester). TBK1 on chr. 12 and ZNF236 on chr. 18 showed multiple SNPs associated with higher risk of CP in the presence of maternal smoking. Additional evidence of reduced risk due to G×E interaction in the presence of multivitamin supplementation was observed for SNPs in BAALC on chr. 8. These results emphasize the need to consider G×E interaction when searching for genes influencing risk to complex and heterogeneous disorders, such as non-syndromic CP. PMID:21618603

  6. Congenital heart defects in children with oral clefts

    Directory of Open Access Journals (Sweden)

    Nahvi H.

    2007-09-01

    Full Text Available   Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referred to the Children's Medical Center and Bahramy; the teaching Hospitals of the Tehran University of Medical Sciences from 1991 to 2005 were prospectively enrolled in this study group. All patients were examined and noted by an academic cleft team contain; a pediatrician and a pediatric surgeon, and received cardiac consultation and echocardiography by a pediatric cardiologist. non cardiac associated anomalies, still born and patients without echocardiography were excluded from the study.  Data including age, gender, exposure to contagions and high risk elements ,consanguinity and familial history of oral cleft, type of oral cleft, results of cardiac consultation and echocardiography and associated cardiac anomalies were cumulated and analyzed by SSPS version 13.5Results: Among the 284 infants with oral clefts, 162 were male (57% and 122 were female (43%. Seventy-nine patients (27.8% had cleft lip, 84 (29.5% had cleft palate and 121 (42.6% had both cleft lip and palate. Of all the patients, 21.1% had congenital heart defects. the most common type Of these congenital heart defects(28.3%  was atrial septal defect.Conclusions: For patients with cleft lip and palate, we recommend preoperative cardiac consultation, careful examination and routine echocardiography for associated cardiac anomalies, as well as appropriate management and prophylactic antibiotic therapy for those with associated congenital heart anomaly.

  7. Changing lifestyles and oral clefts occurrence in Denmark

    DEFF Research Database (Denmark)

    Bille, Camilla; Knudsen, Lisbeth B.; Christensen, Kaare

    2005-01-01

    ; furthermore, smoking among pregnant women decreased considerably. Design and settings There are few places in which ecological studies of oral clefts are possible. Denmark provides a particularly good setting for this kind of study, due to a high ascertainment and a centralized registration of cleft cases...... through the last 65 years. Participants Cleft occurrence in Denmark 1936 to 1987 has previously been reported. Here we extend the study to include all live-born children with oral clefts born in Denmark in 1988 throguh 2001. Among a total of 992,727 live births 1332 children with CL(P) were born during...

  8. Parents' age and the risk of oral clefts

    DEFF Research Database (Denmark)

    Bille, C.; Skytthe, A.; Vach, W.

    2005-01-01

    BACKGROUND: Some malformations are clearly associated with older maternal age, but the effect of older age of the father is less certain. The aim of this study is to determine the degree to which maternal age and paternal age independently influence the risk of having a child with oral clefts....... In a joint analysis, both maternal and paternal ages were associated with the risk of cleft lip with or without cleft palate, but the contribution of each was dependent on the age of the other parent. In the analysis of cleft palate only, the effect of maternal age disappeared, leaving only paternal age...... as a risk factor. CONCLUSION: Both high maternal age and high paternal age were associated with cleft lip with or without cleft palate. Higher paternal age but not maternal age increased the risk of cleft palate only....

  9. 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

    Energy Technology Data Exchange (ETDEWEB)

    Healey, S.C.; Chenevix-Trench, G. [Queensland Institute of Medical Research, Brisbane (Australia); Mitchell, L.E. [Saint Louis Univ., MO (United States)

    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.

  10. Reproductive patterns among Danish women with oral clefts

    DEFF Research Database (Denmark)

    Yttri, Janne Elin; Christensen, Kaare; Knudsen, Lisbeth

    2011-01-01

    Abstract Objective: The aim of the study was to compare the reproduction pattern among Danish women born with isolated oral clefts with the Danish background population. Design and setting: A nationwide population based historic cohort-study based on three registers: The Danish Facial Cleft...... Register, The Danish Civil Registration System and the Fertility of Women and Couples Dataset. Participants: Through linkages of the registers, number of children and the exact age at childbirth of all Danish women born with an oral cleft during 1950 through 1988 (N=1,931) were obtained. These data were...

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

    Directory of Open Access Journals (Sweden)

    Asghar Ebadifar

    2015-06-01

    Full Text Available 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 MTHFRgenotype of 677TT shows a greater role in having oral clefts.

  12. Post-operative outcomes after cleft palate repair in syndromic and non-syndromic children: a systematic review protocol.

    Science.gov (United States)

    Zhang, Zach; Stein, Michael; Mercer, Nigel; Malic, Claudia

    2017-03-09

    There is a lack of high-level evidence on the surgical management of cleft palate. An appreciation of the differences in the complication rates between different surgical techniques and timing of repair is essential in optimizing cleft palate management. A comprehensive electronic database search will be conducted on the complication rates associated with cleft palate repair using MEDLINE, EMBASE, and the Cochrane Central Register of Controlled Trials. Two independent reviewers with expertise in cleft pathology will screen all appropriate titles, abstracts, and full-text publications prior to deciding whether each meet the predetermined inclusion criteria. The study findings will be tabulated and summarized. The primary outcomes will be the rate of palatal fistula, the incidence and severity of velopharyngeal insufficiency, and the rate of maxillary hypoplasia with different techniques and also the timing of the repair. A meta-analysis will be conducted using a random effects model. The evidence behind the optimal surgical approach to cleft palate repair is minimal, with no gold standard technique identified to date for a certain type of cleft palate. It is essential to appreciate how the complication rates differ between each surgical technique and each time point of repair, in order to optimize the management of these patients. A more critical evaluation of the outcomes of different cleft palate repair methods may also provide insight into more effective surgical approaches for different types of cleft palates.

  13. Epidemiology of non-syndromic cleft lip/palate in the high level natural background radiation areas (HLNRA) of the South west coast of India

    International Nuclear Information System (INIS)

    Jaikrishan, G.; Sudheer, K.R.; Andrews, V.J.; Koya, P.K.M.; Cheriyan, V.D.; Seshadri, M.

    2010-01-01

    All consecutive births in selected government hospitals in and around the high level natural background radiation areas (HLNRA) of Kerala were monitored for congenital malformations observable at birth since 1995. The HLNR area, with natural deposits of monazite sand containing thorium (8-10%) and Uranium (0.3%), is a coastal strip of land about 55 km in length and 0.5 km in breadth from Purakkad in the north in Alleppey district to Sakthikulangara in the south of Quilon district and is one among the most prominent background radiation areas of the world. Patchy and non-uniform distribution of Monazite sand causes wide variation in dose ranging from <1 to 45 mGy/year. High population density, limited migration, ethnic diversity, good literacy, health awareness, institutionalized births and acceptance of small family norm are some of the key features of the population. Areas with a mean radiation dose of more than 1.5 mGy/year were treated as HLNR areas and areas with a dose level of 1.5 mGy/year or less were treated as normal level radiation areas (NLNRA). A total of 134,178 newborns were monitored and non-syndromic cleft lip/palate (NSCLP) was detected in 143 newborns (1.07%). Cleft lip with cleft palate (59.4%) was more common than cleft lip (18.2%) or Cleft palate (22.4%) alone and 11.9% had other malformation(s) together with NSCLP. There was no evidence to suggest that NSFC was significantly associated with prevailing dose level of area of mother's residence, maternal age birth, gravida, ethnicity or consanguinity

  14. Incidence of Congenital Heart Diseases Anomalies in Newborns with Oral Clefts, Zahedan, Iran

    Directory of Open Access Journals (Sweden)

    Noor Mohammad Noori

    2016-09-01

    Full Text Available Background Oral cleft is the most common orofacial congenital anomaly among live births. This anomaly at birth is one of the main causes of children disability and mortality.  Congenital heart disease (CHD is one of the most common anomalies in oral clefts.  This study aimed to assess the incidence of congenital heart diseases anomalies in newborns with oral clefts. Materials and Methods This study performed on 48,692 live born to estimate incidence of oral clefts from 1 st December 2013 to 31 th November 2015 from three general hospitals in Zahedan, The capital city of the Sistan & Baluchestan  province, Iran. All oral cleft patients were under echocardiography to diagnosis the incidence of CHD as associated anomaly. The collected data were processed using SPSS-16. Results The results of the analysis showed that the incidence of cleft lip was higher in boys than girls, while the cleft palate was higher in girls. Lip/palate cleft was higher for boys.  Oral clefts patients accounted of 102 (0.2% with incidence rate of 2.095 per 1000 lives. Of 102 patients 19 (18.62%, 39(35.24% and 44(43.14% were oral lip, oral palate and both respectively. The incidence of CHD in patients with oral clefts was 26.5%, while the incidences for cleft lip, cleft palate and both were 15.79%, 20.51%, and 36.36% respectively. Conclusion From the study concluded that the rate of CHD among children with oral clefts was high compared with the healthy children.  Strongly is suggested the echocardiography for these patients to have early diagnostic of CHD to manage any life-threatening.

  15. Study of oral clefts: Indication of gene-environment interaction

    Energy Technology Data Exchange (ETDEWEB)

    Hwang, S.J.; Beaty, T.H.; Panny, S. [Johns Hopkins Univ., Baltimore, MD (United States)] [and others

    1994-09-01

    In this study of infants with isolated birth defects, 69 cleft palate-only (CPO) cases, 114 cleft lip with or without palate (CL/P), and 284 controls with non-cleft birth defects (all born in Maryland during 1984-1992) were examined to test for associations among genetic markers and different oral clefts. Modest associations were found between transforming growth factor {alpha} (TGF{alpha}) marker and CPO, as well as that between D17S579 (Mfd188) and CL/P in this study. The association between TGF{alpha} marker and CPO reflects a statistical interaction between mother`s smoking and child`s TGF{alpha} genotype. A significantly higher risk of CPO was found among those reporting maternal smoking during pregnancy and carrying less common TGF{alpha} TaqI allele (odds ratio=7.02 with 95% confidence interval 1.8-27.6). This gene-environment interaction was also found among those who reported no family history of any type of birth defect (odds ratio=5.60 with 95% confidence interval 1.4-22.9). Similar associations were seen for CL/P, but these were not statistically significant.

  16. Incidence of Congenital Heart Diseases Anomalies in Newborns with Oral Clefts, Zahedan, Iran

    OpenAIRE

    Noor Mohammad Noori; Alireza Teimouri; Tahereh Boryri; Sirous Risbaf Fakour; Fateme Shahramian

    2016-01-01

    Background Oral cleft is the most common orofacial congenital anomaly among live births. This anomaly at birth is one of the main causes of children disability and mortality.  Congenital heart disease (CHD) is one of the most common anomalies in oral clefts.  This study aimed to assess the incidence of congenital heart diseases anomalies in newborns with oral clefts. Materials and Methods This study performed on 48,692 live born to estimate incidence of oral clefts from 1 st December 2013 to ...

  17. The effects of oral clefts on hospital use throughout the lifespan

    Directory of Open Access Journals (Sweden)

    Wehby George L

    2012-03-01

    Full Text Available Abstract Background Oral clefts are one of the most common birth defects worldwide. They require multiple healthcare interventions and add significant burden on the health and quality of life of affected individuals. However, not much is known about the long term effects of oral clefts on health and healthcare use of affected individuals. In this study, we evaluate the effects of oral clefts on hospital use throughout the lifespan. Methods We estimate two-part regression models for hospital admission and length of stay for several age groups up to 68 years of age. The study employs unique secondary population-based data from several administrative inpatient, civil registration, demographic and labor market databases for 7,670 individuals born with oral clefts between 1936 and 2002 in Denmark, and 220,113 individuals without oral clefts from a 5% random sample of the total birth population from 1936 to 2002. Results Oral clefts significantly increase hospital use for most ages below 60 years by up to 233% for children ages 0-10 years and 16% for middle age adults. The more severe cleft forms (cleft lip with palate have significantly larger effects on hospitalizations than less severe forms. Conclusions The results suggest that individuals with oral clefts have higher hospitalization risks than the general population throughout most of the lifespan.

  18. Maternal Risk Factors for Oral Clefts: A Case-Control Study

    Directory of Open Access Journals (Sweden)

    Mohammad Jafar Golalipour

    2011-01-01

     Conclusions:  The results of this study indicate that higher parity is significantly associated with an increased risk of an oral cleft, while Fars ethnicity and a low intake of folic acid increased the incidence of oral clefts but not significantly.

  19. Maternal Risk Factors for Oral Clefts: A Case-Control Study

    Directory of Open Access Journals (Sweden)

    Elham Mobasheri

    2011-01-01

    Full Text Available Introduction: A cleft lip with or without a cleft palate is one of the major congenital anomalies observed in newborns. This study explored the risk factors for oral clefts in Gorgan, Northern Iran.  Materials and Methods: This hospital-based case-control study was performed in three hospitals in Gorgan, Northern Iran between April 2006 and December 2009. The case group contained 33 newborns with oral clefts and the control group contained 63 healthy newborns. Clinical and demographic factors, including date of birth, gender of the newborns, type of oral cleft, consanguinity of the parents, parental ethnicity, and the mother's parity, age, education and intake of folic acid were recorded for analysis.  Results: A significant association was found between parity higher than 2 and the risk of an oral cleft (OR= 3.33, CI 95% [1.20, 9.19], P> 0.02. According to ethnicity, the odds ratio for oral clefts was 0.87 in Turkmens compared with Sistani people (CI 95% [0.25, 2.96] and 1.11 in native Fars people compared with Sistani people (CI 95% [0.38, 3.20]. A lack of folic acid consumption was associated with an increased risk of oral clefts but this was not statistically significant (OR = 1.42, CI 95% [0.58, 3.49]. There were no significant associations between sex (OR boy/girl = 0.96, CI 95% [0.41, 2.23], parent familial relations (OR = 1.07, CI 95% [0.43, 2.63], mother's age and oral clefts.  Conclusions:  The results of this study indicate that higher parity is significantly associated with an increased risk of an oral cleft, while Fars ethnicity and a low intake of folic acid increased the incidence of oral clefts but not significantly.

  20. Oral health-related quality of life in youth receiving cleft-related surgery: self-report and proxy ratings.

    Science.gov (United States)

    Broder, Hillary L; Wilson-Genderson, Maureen; Sischo, Lacey

    2017-04-01

    This paper evaluated the impact of cleft-related surgery on the oral health-related quality of life (OHRQoL) of youth with cleft over time. Data were derived from a 5-year, multi-center, prospective, longitudinal study of 1196 youth with cleft lip and/or palate and their caregivers. Eligible youth were between 7.5 and 18.5 years old, spoke English or Spanish, and were non-syndromic. During each observational period, which included baseline, and 1- and 2-year post-baseline follow-up visits, youths and their caregivers completed the Child Oral Health Impact Profile, a validated measure of OHRQoL. Multilevel mixed-effects models were used to analyze the effects of receipt of craniofacial surgery on OHRQoL over time. During the course of this study a total of 516 patients (43 %) received at least one surgery. Youth in the surgery recommendation group had lower self- (β = -2.18, p self- and proxy-rated OHRQoL at baseline. Both surgical and non-surgical youth (β = 3.73, p self-reported OHRQoL for youth postsurgery (β = 1.04, p self- and caregiver-rated OHRQoL when compared to non-surgical youth. Youth who underwent cleft-related surgery had significant incremental improvements in self-rated but not caregiver (proxy)-rated OHRQoL after surgery.

  1. Chemical exposure during pregnancy and oral clefts in newborns

    Directory of Open Access Journals (Sweden)

    Isabel Cristina Gonçalves Leite

    Full Text Available This article presents a literature review on the risk factors for oral clefts (lip and/or palate, emphasizing discussion of maternal exposure to endocrine disruptors. Several studies have identified the risk of cigarette smoking and alcohol consumption, use of anticonvulsivant drugs, and exposure to organic solvents. A protective effect has been shown for supplementation with folic acid. As with other chemicals, the risk associated with exposure to sex hormones is still obscure, although some authors describe a moderate risk level. New studies addressing this hypothesis need to be conducted, while the population exposed to these endocrine disrupters is increasing.

  2. Chemical exposure during pregnancy and oral clefts in newborns

    Directory of Open Access Journals (Sweden)

    Leite Isabel Cristina Gonçalves

    2002-01-01

    Full Text Available This article presents a literature review on the risk factors for oral clefts (lip and/or palate, emphasizing discussion of maternal exposure to endocrine disruptors. Several studies have identified the risk of cigarette smoking and alcohol consumption, use of anticonvulsivant drugs, and exposure to organic solvents. A protective effect has been shown for supplementation with folic acid. As with other chemicals, the risk associated with exposure to sex hormones is still obscure, although some authors describe a moderate risk level. New studies addressing this hypothesis need to be conducted, while the population exposed to these endocrine disrupters is increasing.

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

    Directory of Open Access Journals (Sweden)

    Sathyaprasad Savitha

    2015-01-01

    Full Text Available 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.

  4. Periconceptional folic acid associated with an increased risk of oral clefts relative to non-folate related malformations in the Northern Netherlands: a population based case-control study

    International Nuclear Information System (INIS)

    Rozendaal, Anna M.; Essen, Anthonie J. van; Meerman, Gerard J. te; Bakker, Marian K.; Biezen, Jan J. van der; Goorhuis-Brouwer, Sieneke M.; Vermeij-Keers, Christl; Walle, Hermien E. K. de

    2013-01-01

    Periconceptional folic acid has been associated with a reduced risk of neural tube defects, but findings on its effect in oral clefts are largely inconclusive. This case-control study assesses the effects of periconceptional folic acid on cleft risk, using complementary data from the Dutch Oral Cleft Registry and a population-based birth defects registry (Eurocat) of children and foetuses born in the Northern Netherlands between 1997 and 2009. Cases were live-born infants with non-syndromic clefts (n = 367) and controls were infants or foetuses with chromosomal/syndromal (n = 924) or non-folate related anomalies (n = 2,021). We analyzed type/timing/duration of supplement use related to traditional cleft categories as well as to their timing (early/late embryonic periods) and underlying embryological processes (fusion/differentiation defects). Consistent supplement use during the aetiologically relevant period (weeks 0–12 postconception) was associated with an increased risk of clefts (adjusted odds ratio 1.72, 95 % confidence interval 1.19–2.49), especially of cleft lip/alveolus (3.16, 1.69–5.91). Further analysis systematically showed twofold to threefold increased risks for late differentiation defects—mainly clefts of the lip/alveolus—with no significant associations for early/late fusion defects. Effects were attributable to folic acid and not to other multivitamin components, and inclusion of partial use (not covering the complete aetiologically relevant period) generally weakened associations. In conclusion, this study presents several lines of evidence indicating that periconceptional folic acid in the Northern Netherlands is associated with an increased risk of clefts, in particular of cleft lip/alveolus. This association is strengthened by the specificity, consistency, systematic pattern, and duration of exposure-response relationship of our findings, underlining the need to evaluate public health strategies regarding folic acid and to

  5. 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

    International Nuclear Information System (INIS)

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

    2011-01-01

    Highlights: → IRF6 rs642961 polymorphism is intensively associated with NSCLP. → IRF6 rs2235371 polymorphism is not associated with NSCLP in the northern Chinese population. → 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 northern

  6. 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

    Energy Technology Data Exchange (ETDEWEB)

    Shi, Jinna, E-mail: kqkjk@yahoo.com.cn [Department of Periodontology, The First Affiliated Hospital, Harbin Medical University, Harbin (China); Song, Tao; Jiao, Xiaohui [Department of Oral Maxillofacial Surgery, The First Affiliated Hospital, Harbin Medical University, Harbin (China); Qin, Chunlin [Department of Biomedical Sciences, Texas A and M Health Science Center, Baylor College of Dentistry, Dallas, TX (United States); Zhou, Jin [Department of Hematology, The First Affiliated Hospital, Harbin Medical University, Harbin (China)

    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

  7. Oral clefts and life style factors - a case-cohort study based on prospective Danish data

    DEFF Research Database (Denmark)

    Bille, Camilla; Olsen, Jørn; Vach, Werner

    2007-01-01

    supplementation with > or =400 mcg folic acid daily during the entire first trimester (OR: 0.75; CIs: 0.46, 1.22) suggested an inverse associated with oral clefts, similar to our results on coffee drinking. No effects were found for smaller doses of folic acid, vitamin A, B6 or B12 in this study. The present......This study examines the association between oral clefts and first trimester maternal lifestyle factors based on prospective data from the Danish National Birth Cohort. The cohort includes approximately 100,000 pregnancies. In total 192 mothers gave birth to child with an oral cleft during 1997......-2003. Information on risk factors such as smoking, alcohol consumption, tea, coffee, cola, and food supplements was obtained during pregnancy for these and 828 randomly selected controls. We found that first trimester maternal smoking was associated with an increased risk of oral clefts (odds ratio (OR): 1.50; 95...

  8. THREE-DIMENSIONAL ASSESSMENT OF THE PHARYNGEAL AIRWAY AND MAXILLARY SINUS VOLUMES IN INDIVIDUALS WITH NON-SYNDROMIC CLEFT LIP AND PALATE

    Directory of Open Access Journals (Sweden)

    Ana NEMȚOI

    2015-09-01

    Full Text Available Introduction: Children with cleft lip and palate (CLP are known to have airway problems. Introduction of ConeBeam CT (CBCT and imaging software has facilitated generation of 3D images for assessing the volume of maxillary sinuses and pharyngeal airway. Consequently, the present study aimed at evaluating and comparing the maxillary sinus and pharyngeal airway volume of patients with cleft lip and palate in healthy patients, using cone beam computed tomography (CBCT images. Materials and method: The sample group included 27 individuals (15 with cleft lip and palate subjects and 12 healthy subjects. The pharyngeal airway and each maxillary sinus were three-dimensionally assessed, segmented and their volume was calculated. A comparison between the right and left sinus was performed by Student t-test, and the differences between the control and cleft groups were calculated using ANOVA. Results: No statistically significant differences were found when the maxillary sinuses volumes from each side were compared (p >0.05. The unilateral CLP patients presented the lowest sinus volume. Individuals with CLP did not exhibit a total airway volume smaller than the nonCLP controls. Conclusions: 3D imaging using CBCT and Romexis software is reliable for assessing maxillary sinus and pharyngeal airway volume. The present study showed that the pharyngeal airway is not compromised in CLP individuals. The unilateral CLP individuals present maxillary sinuses with smaller volumes, no differences being recorded between the cleft and non-cleft side.

  9. Oral clefting in china over the last decade: 205,679 patients.

    Science.gov (United States)

    Kling, Rochelle R; Taub, Peter J; Ye, Xiaoqian; Jabs, Ethylin Wang

    2014-10-01

    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. 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.). 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. 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.

  10. Oral clefts, tranforming growth factor alpha gene variants, and maternal smoking

    DEFF Research Database (Denmark)

    Christensen, Kaare; Olsen, Jørn; Nørgaard-Pedersen, Bent

    1999-01-01

    Studies in the United States have indicated that maternal first trimester smoking and infant transforming growth factor alpha (TGFA) locus mutations are associated with non-syndromic cleft lip and/or palate (CLP) and that a synergistic effect of these two risk factors occurs. Based on a Danish case-control......, and no synergistic effect with smoking was observed. The "rare" TGFA allele occurred in 25% of both cases and controls compared with an average of 14% in other white control groups. Furthermore, the frequency of CLP in Scandinavia is among the highest in the world. Hence, it is possible that the previously reported...

  11. A Comparative Study of Oral Microbiota in Infants with Complete Cleft Lip and Palate or Cleft Soft Palate.

    Science.gov (United States)

    Machorowska-Pieniążek, Agnieszka; Mertas, Anna; Skucha-Nowak, Małgorzata; Tanasiewicz, Marta; Morawiec, Tadeusz

    2017-01-01

    Few reports have been published on the early microbiota in infants with various types of cleft palate. We assessed the formation of the oral microbiota in infants with complete cleft lip and palate (CLP n = 30) or cleft soft palate (CSP n = 25) in the neonatal period (T1 time) and again in the gum pad stage (T2 time). Culture swabs from the tongue, palate, and/or cleft margin at T1 and T2 were taken. We analysed the prevalence of the given bacterial species (the percentage) and the proportions in which the palate and tongue were colonised by each microorganism. At T1, Streptococcus mitis (S. mitis) were the most frequently detected in subjects with CLP or CSP (63% and 60%, resp.). A significantly higher frequency of methicillin-sensitive Staphylococcus aureus ( S. aureus MSSA) was observed in CLP compared to the CSP group. At T2, significantly higher percentages of S. mitis , S. aureus MSSA, Staphylococcus epidermidis , and members of the Enterobacteriaceae family were noted in CLP infants compared to the CSP. S. mitis and Streptococcus sanguinis appeared with the greatest frequency on the tongue, whereas Streptococcus salivarius was predominant on the palate. The development of the microbiota in CLP subjects was characterised by a significant increase in the prevalence of pathogenic bacteria.

  12. The status of oral hygiene in cleft lip, palate patients after surgical correction

    Directory of Open Access Journals (Sweden)

    Pandey S

    2005-01-01

    Full Text Available The cleft lip and palate patients usually present a number of problems viz. altered oral anatomy leading to changes in oral physiology diminishing the self-cleansing ability of individual. The handicapped children are unable to maintain their oral hygiene properly. The present study was formulated with the aim that does normalization of oral anatomy have its effect on improvement of oral hygiene? An assessment of oral hygiene index-simplified was performed between preoperative and postoperative values in the same patient at KGMU and KGDU. A total of 50 cases were recorded in two groups of 25 each: (i < 6 years old and (ii > 6 years. The observations are statistically analyzed by paired ′t′ test to get the significance of results. Results: The data analyzed showed the significant decrease in oral hygiene indices observed in both groups. A relative significance in oral hygiene status following surgery was observed. Both groups expressed greater significance when compared pre and postoperatively which is indicative of considerable improvement of oral hygiene after surgical correction. The study concludes that oral hygiene improves more in older cleft lip-palate cases following reconstruction of palatal vault, premaxilla and anterior lip seal by secondary bone grafting method when compared with oral hygiene indices results in primary periosteoplasty cases. The surgical correction of cleft lip palate enhances self-cleaning ability and better compliance to maintain oral hygiene in children as the age advances.

  13. First-Trimester Maternal Alcohol Consumption and the Risk of Infant Oral Clefts in Norway: A Population-based Case-Control Study

    OpenAIRE

    DeRoo, Lisa A.; Wilcox, Allen J.; Drevon, Christian A.; Lie, Rolv Terje

    2008-01-01

    Although alcohol is a recognized teratogen, evidence is limited on alcohol intake and oral cleft risk. The authors examined the association between maternal alcohol consumption and oral clefts in a national, population-based case-control study of infants born in 1996–2001 in Norway. Participants were 377 infants with cleft lip with or without cleft palate, 196 with cleft palate only, and 763 controls. Mothers reported first-trimester alcohol consumption in self-administered questionnaires com...

  14. TGF-alpha genotypes, oral clefts, and environmental risk factors: A population-based California study

    Energy Technology Data Exchange (ETDEWEB)

    Shaw, G.M.; Wasserman, C.R. [CA Birth Defects Monitoring Program, Emeryville, CA (United States); Lammer, E.J. [Stanford Univ., Palo Alto, CA (United States)] [and others

    1994-09-01

    Several studies have shown a relation between genetic variation at the TGF-alpha locus and oral clefts. These studies had limited sample sizes and also lacked data on additional factors potentially related to clefting. We investigated the influence on clefting from risk factors, such as maternal smoking, dependent on TFG-alpha genotype. This was accomplished using a large population-bases case-control study of fetuses and liveborn infants with oral clefts among a 1987-89 cohort of California births (N=548,844). To obtain data on potential risk factors, telephone interviews were conducted with mothers of 731 (84.5% of eligible) cleft cases, and 734 (78.2%) nonmalformed controls. DNA was obtained from newborn screening bloodspots and genotyped by using SSCP designed to detect the Taq1 RFLP. Among mothers who completed an interview, genotyping results were available for 571 (78.1%) cases and 640 (87.2%) controls. Compared to controls, the risk estimate for TGF-alpha polymorphism as measured by the odds ratio was: 0.99 (95% confidence interval 0.64, 1.5) for isolated cleft lip {plus_minus}palate; 0.88 (0.33, 2.2) for nonisolated cleft lip {plus_minus}palate; 1.6 (0.94, 2.8) for isolated cleft palate; 1.9 (0.82, 4.3) for nonisolated cleft palate; and 2.2 (0.99, 5.0) for clefts with known etiology. This dataset also revealed 1.4 to 2-fold increased risks for maternal cigarette smoking > 19 cigs/day in early pregnancy. Among these heavy smokers, risk of clefting was even more increased for infants with the TGF-alpha polymorphism. Our data suggest an association between the TGF-alpha uncommon allele and some phenotypic subgroups as well as provide evidence for a genetic-environment interaction between maternal smoking and the variant in the etiology of clefting. The fraction of cases possibly attributed to this interaction, however, was small.

  15. Health Status Among Adults Born With an Oral Cleft in Norway.

    Science.gov (United States)

    Berg, Erik; Haaland, Øystein A; Feragen, Kristin B; Filip, Charles; Vindenes, Hallvard A; Moster, Dag; Lie, Rolv T; Sivertsen, Åse

    2016-11-01

    Parents regularly express concern about long-term health outcomes for children who are born with an oral cleft. To assess whether oral clefts affect the health and ability to work of young adults. A population-based cohort study was conducted on all individuals born in Norway between calendar years 1967 and 1992 (n = 1 490 401). All patients treated for clefts in Norway during the study period were invited to participate (n = 2860). This study used population-based, long-term follow-up data from national registries to focus on the future health outcomes of individuals with cleft and no additional chronic medical conditions or congenital anomalies. A total of 523 individuals were excluded from the study cohort because they declined participation, could not be reached by mail, or had birth defects other than clefts. The final cohort, consisting of 2337 cases with isolated clefts and 1 413 819 unaffected individuals, was followed up until December 31, 2010, using compulsory national registries and clinical data. Data analysis was conducted from February 13, 2014, to April 18, 2016. Oral clefts. Death, intellectual disability, schizophrenia, mood affective disorders, anxiety disorders, autism spectrum disorders, attention deficit/hyperactivity disorder, severe learning disability, cerebral palsy, epilepsy, muscle or skeletal disorders, trauma, and episodes of reduced health. Of 2860 individuals born with an oral cleft, 2337 were included in the analysis; of these, 1401 were male (59.9%). Mean (SD) age in 2010 was 30.6 (7.7) years. Compared with unaffected individuals, no increased risks were found regarding morbidity or mortality among persons with isolated cleft lip only. Among individuals with isolated cleft lip and cleft palate, increased risks of intellectual disability (relative risk [RR], 2.2; 95% CI, 1.2-4.1) and cerebral palsy (RR, 2.6; 95% CI, 1.1-6.2) were found. Individuals with isolated cleft palate (ie, without cleft lip) had increased mortality

  16. Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population.

    Science.gov (United States)

    Sales, Sizina Aguiar G; Santos, Maria Luiza; Machado, Renato Assis; Dias, Verônica Oliveira; Nascimento, Jairo Evangelista; Swerts, Mario Sérgio Oliveira; Júnior, Hercílio Martelli; Martelli, Daniella Reis Barbosa

    2017-08-24

    Bifid uvula is a frequently observed anomaly in the general population and can be regarded as a marker for submucous cleft palate. In this study aimed to determine the frequency of bifid uvula and submucous cleft palate and their relationship with oral clefts in a Brazilian population. We conducted a transversal, descriptive and quantitative study of 1206 children between August 2014 and December 2015. A clinical examination of the children was conducted by means of inspection of the oral cavity with the aid of a tongue depressor and directed light. After the clinical examination in children, parents answered a questionnaire with questions about basic demographic information and their family history of oral clefts in their first-degree relatives. After application of the questionnaires, the information collected was archived in a database and analyzed by the statistical program SPSS ® version 19.0, by applying Chi-Square tests. Values with previews, with broader and diverse populations, seeking to associate the occurrence of bifid uvula, submucous cleft palate and oral clefts. Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  17. Long-term effects of oral clefts on health care utilization

    DEFF Research Database (Denmark)

    Pedersen, Morten Saaby; Wehby, George L; Pedersen, Dorthe Almind

    2015-01-01

    clefts use more health services than their unaffected siblings. Additional results show that the effects are driven primarily by congenital malformation-related hospitalizations and intake of anti-infectives. Although the absolute differences in most health care utilization diminish over time, affected......Oral clefts are among the most common birth defects affecting thousands of newborns each year, but little is known about their potential long-term consequences. In this paper, we explore the impact of oral clefts on health care utilization over most of the lifespan. To account for time...... individuals have slightly higher utilization of some health care services in adulthood (particularly for diseases of the nervous and respiratory system). These results have important implications for affected individuals, their families, and their health professionals....

  18. Use of Psychotropic Medications and Visits to Psychiatrists and Psychologists among Individuals with Nonsyndromic Oral Clefts

    DEFF Research Database (Denmark)

    Pedersen, Dorthe Almind; Hageman, Ida; Wehby, George L

    2017-01-01

    BACKGROUND: Oral clefts (OCs) are among the most common congenital malformations and can have a large impact on the life of the affected individual. Research findings regarding the psychological and psychosocial consequences of OC are inconclusive. METHODS: Using Danish nationwide registers, we i...

  19. Autoantibodies to folate receptor alpha during early pregnancy and risk of oral clefts in Denmark

    DEFF Research Database (Denmark)

    Bille, Camilla; Pedersen, Dorthe Almind; Andersen, Anne-Marie Nybo

    2010-01-01

    The objective of this study was to determine whether IgG and IgM autoantibodies to folate receptor alpha (FRalpha) in pregnant women are associated with an increased risk of oral cleft-affected offspring. A case-control study nested in the prospective Danish National Birth Cohort (100,418 pregnan...

  20. Oral health considerations in a patient with oligosymptomatic ectrodactyly-ectodermal dysplasia-cleft syndrome.

    Science.gov (United States)

    Sharma, Gaurav; Nagpal, Archna

    2017-01-01

    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome-a complex, pleiotropic disorder resulting in multiple congenital anomalies-has an unpredictable clinical expression and is typically manifested as an autosomal-dominant trait. This article presents a rare case of oligosymptomatic EEC syndrome in a 19-year-old man who exhibited atypical dental findings but no cleft lip or palate. This article is intended to create awareness about this rare syndrome and highlight the role of oral healthcare specialists in improving the quality of life for patients with EEC.

  1. Oral strength in subjects with a unilateral cleft lip and palate.

    Science.gov (United States)

    Van Lierde, Kristiane M; Bettens, Kim; Luyten, Anke; Plettinck, Janne; Bonte, Katrien; Vermeersch, Hubert; Roche, Nathalie

    2014-08-01

    Facial appearance and speech outcome may affect psychosocial functioning in girls and boys. Several studies reported dissatisfaction with facial appearance and more specifically the lip and mouth profile in children with cleft lip and palate (CLP). The purpose of this controlled study was to measure the tongue and lip strength and endurance in boys and girls with CLP. Twenty-five subjects (mean age: 10.6 years) with a unilateral CLP and a gender- and age- matched control group were selected. All subjects with an unilateral CLP consulted the same craniofacial team and had undergone an identical surgical procedure. Surgical procedure of the lip was performed using a modified Millard technique without primary nose correction at an average age of 5.5 months. The Iowa Oral Performance instrument was used to measure lip and tongue strength and tongue endurance. The results of the Iowa Oral Performance measurement showed no significant differences between the subjects with an unilateral cleft lip and palate and the age and gender matched control group without a cleft lip and palate. There is no significant differences regarding oral strength more specifically the lip and tongue strength and endurance between subjects with and without an unilateral cleft lip and palate. ENT specialists and speech pathologists must be aware of this aspect of the normal lip and tongue functions. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  2. Cardiovascular abnormalities in patients with oral cleft: a clinical-electrocardiographic-echocardiographic study

    Directory of Open Access Journals (Sweden)

    Gisele C.P. Leite

    2018-04-01

    Full Text Available OBJECTIVES: The present study aims to describe the clinical, electrocardiographic, and echocardiographic cardiological findings in a group of patients with oral clefts. METHODS: This is a prospective cross-sectional study on 70 children (age range from 13 days to 19 years with oral clefts who attended the multidisciplinary program of a university hospital from March 2013 to September 2014. The patients were evaluated by a pediatric cardiologist and underwent detailed anamnesis, physical examination, electrocardiogram, and echocardiogram. RESULTS: Sixty percent of the patients were male; 55.7% presented with cleft lip and palate, and 40.0% presented with health complaints. Comorbidities were found in 44.3%. Relevant pregnancy, neonatal, family and personal antecedents were present in 55.7%, 27.1%, 67.2%, and 24.3% of the patients, respectively. Regarding the antecedents, 15.2% of the patients presented with a cardiac murmur, 49.0% with a familial risk of developing plurimetabolic syndrome, and 6% with family antecedents of rheumatic fever. Electrocardiographic evaluation showed one case of atrioventricular block. Echocardiograms were abnormal in 35.7% of the exams, including 5 cases of mitral valve prolapse — one of which was diagnosed with rheumatic heart disease. CONCLUSION: The finding of a family risk of developing plurimetabolic syndrome and a diagnosis of rheumatic heart disease indicates that patients with oral clefts may be more prone to developing acquired heart disease. Thus, our findings highlight the importance of anamnesis and methodological triangulation (clinical-electrocardiographic-echocardiographic in the investigation of patients with oral clefts and emphasize that cardiological follow-up to evaluate acquired and/or rhythm heart diseases is necessary. This strategy permits comorbidity prevention and individualized planned treatment.

  3. Comparison of oral hygiene and periodontal status in patients with clefts of palate and patients with unilateral cleft lip, palate and alveolus

    Directory of Open Access Journals (Sweden)

    Mutthineni Ramesh

    2010-01-01

    Full Text Available Aim: This study was conducted to analyze and compare the oral hygiene and periodontal status in patients with clefts of palate (CP and patients with unilateral cleft lip, palate and alveolus (UCLPA. Materials and Methods: The study group consisted of 120 cleft patients. Subjects were divided into two groups of 60 each. Group I - patients with UCLPA and Group II - patients with CP. For comparison, all the four quadrants were defined, Q1-right upper quadrant, Q2-left upper quadrant, Q3-left lower quadrant and Q4-right lower quadrant, in both groups and the following parameters were recorded: Plaque Index (PI, Silness and Loe, Sulcus Bleeding Index (SBI, Muhlemann and Son, Probing Pocket Depth (PPD, Clinical Attachment Level (CAL, Mobility Index (Miller and Radiographic Amount of Bone Loss. Results: The periodontal destruction was seen to be higher in UCLPA patients compared with CP patients. The poor oral hygiene status, as indicated by higher values of PI, and the periodontal status, evaluated by SBI, PPD, CAL, mobility and Radiographic Amount of Bone Loss, were higher in patients with UCLPA than in patients with CP. Conclusion: In this study, patients with cleft lip, palate and alveolus had poor oral hygiene and periodontal status compared with patients with cleft palate.

  4. Breeding experiments and genome-wide association analysis elucidate two genetically different forms of non-syndromic congenital cleft lip and jaw in Vorderwald × Montbéliarde cattle.

    Science.gov (United States)

    Reinartz, S; Distl, O

    2017-10-01

    Non-syndromic congenital cleft lip and jaw (CLJ) is a condition reported in Vorderwald × Montbéliarde cattle. The objective of the present study was to perform a genome-wide association study (GWAS) for 10 CLJ-affected and 50 unaffected Vorderwald × Montbéliarde cattle using the bovine Illumina high density bead chip to identify loci for this condition. Phenotypic classification of CLJ was based on a detailed recording of orofacial structures using computed tomography. A breeding experiment among CLJ-affected Vorderwald × Montbéliarde cattle and CLJ-affected Vorderwald × Montbéliarde cattle with unaffected Holsteins confirmed recessive inheritance and different loci for bilateral or left-sided versus right-sided CLJ. The GWAS for the five cases with right-sided CLJ gave a genome-wide signal on bovine chromosome (BTA) 29 at 16 Mb. For the four left-sided and one bilateral CLJ case, a genome-wide significant association was identified on BTA4 at 32 Mb. Two different loci are very likely to be involved in CLJ in Vorderwald × Montbéliarde cattle because experimental matings among affected cows and bulls with different types of CLJ did not result in CLJ-affected progeny, and in addition, two different loci were also found through GWAS and mapped on two different bovine chromosomes. Validation in 346 Vorderwald × Montbéliarde cattle for the highly associated SNPs on BTA4 and 29 gave ratios of 33/346 (0.095, BTA4) and 6/346 (0.017, BTA29) homozygous mutant genotypes. Further studies should elucidate the responsible mutations underlying the different types of CLJ in Vorderwald × Montbéliarde cattle. © 2017 Stichting International Foundation for Animal Genetics.

  5. A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark

    DEFF Research Database (Denmark)

    Grosen, Dorthe; Chevrier, Cécile; Skytthe, Axel

    2010-01-01

    degree relatives. RESULTS: For cleft lip and palate probands we observed recurrence risks for first, second, and third degree relatives of respectively 3.5% (95% CI 3.1% to 4.0%), 0.8% (95% CI 0.6% to 1.0%), and 0.6% (95% CI 0.4% to 0.8%). Individuals affected by the most severe oral cleft had...

  6. Trans-oral endoscopic partial adenoidectomy does not worsen the speech after cleft palate repair.

    Science.gov (United States)

    Abdel-Aziz, Mosaad; Khalifa, Badawy; Shawky, Ahmed; Rashed, Mohammed; Naguib, Nader; Abdel-Hameed, Asmaa

    2016-01-01

    Adenoid hypertrophy may play a role in velopharyngeal closure especially in patients with palatal abnormality; adenoidectomy may lead to velopharyngeal insufficiency and hyper nasal speech. Patients with cleft palate even after repair should not undergo adenoidectomy unless absolutely needed, and in such situations, conservative or partial adenoidectomy is performed to avoid the occurrence of velopharyngeal insufficiency. Trans-oral endoscopic adenoidectomy enables the surgeon to inspect the velopharyngeal valve during the procedure. The aim of this study was to assess the effect of transoral endoscopic partial adenoidectomy on the speech of children with repaired cleft palate. Twenty children with repaired cleft palate underwent transoral endoscopic partial adenoidectomy to relieve their airway obstruction. The procedure was completely visualized with the use of a 70° 4mm nasal endoscope; the upper part of the adenoid was removed using adenoid curette and St. Claire Thompson forceps, while the lower part was retained to maintain the velopharyngeal competence. Preoperative and postoperative evaluation of speech was performed, subjectively by auditory perceptual assessment, and objectively by nasometric assessment. Speech was not adversely affected after surgery. The difference between preoperative and postoperative auditory perceptual assessment and nasalance scores for nasal and oral sentences was insignificant (p=0.231, 0.442, 0.118 respectively). Transoral endoscopic partial adenoidectomy is a safe method; it does not worsen the speech of repaired cleft palate patients. It enables the surgeon to strictly inspect the velopharyngeal valve during the procedure with better determination of the adenoidal part that may contribute in velopharyngeal closure. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  7. Centre-level variation in outcomes and treatment for otitis media with effusion and hearing loss and the association of hearing loss with developmental outcomes at ages 5 and 7 years in children with non-syndromic unilateral cleft lip and palate: The Cleft Care UK study. Part 2.

    Science.gov (United States)

    Hall, A; Wills, A K; Mahmoud, O; Sell, D; Waylen, A; Grewal, S; Sandy, J R; Ness, A R

    2017-06-01

    To explore centre-level variation in otitis media with effusion (OME), hearing loss and treatments in children in Cleft Care UK (CCUK) and to examine the association between OME, hearing loss and developmental outcomes at 5 and 7 years. Two hundred and sixty-eight 5-year-old British children with non-syndromic unilateral cleft lip and palate (UCLP) recruited to CCUK. Children had air and bone conduction audiometry at age 5. Information on grommet and hearing aid treatment was obtained from parental questionnaire and medical notes. Hearing loss at age 5 was defined as >20 dB in the better ear and history of OME and hearing loss was determined from past treatment. Children with sensorineural hearing loss were excluded. Associations were examined with speech, behaviour and self-confidence at age 5 and educational attainment at age 7. Centre variation was examined using hierarchical models and associations between hearing variables and developmental outcomes were examined using logistic regression. There was centre-level variation in early grommet placement (variance partition coefficient (VPC) 18%, P=.001) and fitting of hearing aids (VPC 8%, P=.03). A history of OME and hearing loss was associated with poor intelligibility of speech (adjusted odds ratio=2.87, 95% CI 1.42-5.77) and aspects of educational attainment. Hearing loss is an important determinant of poor speech and treatment variation across centres suggest management of OME and hearing loss could be improved. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Analysis of the genetic ancestry of patients with oral clefts from South American admixed populations.

    Science.gov (United States)

    Vieira-Machado, Camilla D; de Carvalho, Flavia M; Santana da Silva, Luiz C; Dos Santos, Sidney E; Martins, Claudia; Poletta, Fernando A; Mereb, Juan C; Vieira, Alexandre R; Castilla, Eduardo E; Orioli, Iêda M

    2016-08-01

    Increased susceptibility to cleft lip, with or without cleft palate (CL±P) has been observed in South America, as related to Amerindian ancestry, using epidemiological data, uniparental markers, and blood groups. In this study, it was evaluated whether this increased risk remains when Amerindian ancestry is estimated using autosomal markers and considered in the predictive model. Ancestry was estimated through genotyping 62 insertion and deletion (INDEL) markers in sample sets of patients with CL±P, patients with cleft palate (CP), and controls, from Patagonia in southern Argentina and Belém in northern Brazil. The Amerindian ancestry in patients from Patagonia with CL±P was greater than in controls although it did not reach statistical significance. The European ancestry in patients with CL±P from Belém and in patients with CP from Belém and Patagonia was higher than in controls and statistically significant for patients with CP who were from Belém. This high contribution of European genetic ancestry among patients with CP who were from Belém has not been previously observed in American populations. Our results do not corroborate the currently accepted risks for CL±P and CP estimated by epidemiological studies in the North American populations and probably reflect the higher admixture found in South American ethnic groups when compared with the same ethnic groups from the North American populations. © 2016 Eur J Oral Sci.

  9. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

    Directory of Open Access Journals (Sweden)

    L.T. Souza

    2013-08-01

    Full Text Available Nonsyndromic oral clefts (NSOC are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp, 0.169 (173 bp, 0.096 (171 bp and 0.67 (169 bp. A transmission disequilibrium test with a family-based association test (FBAT software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005. These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

  10. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

    Energy Technology Data Exchange (ETDEWEB)

    Souza, L.T. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Programa de Pós-Graduaçãoo em Saúde da Criança e do Adolescente, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Kowalski, T.W. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Collares, M.V.M. [Universidade Federal do Rio Grande do Sul, Departamento de Cirurgia, Porto Alegre, RS, Brasil, Departamento de Cirurgia, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Félix, T.M. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Programa de Pós-Graduaçãoo em Saúde da Criança e do Adolescente, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brasil, Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS (Brazil)

    2013-08-10

    Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

  11. MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

    International Nuclear Information System (INIS)

    Souza, L.T.; Kowalski, T.W.; Collares, M.V.M.; Félix, T.M.

    2013-01-01

    Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil

  12. Quantitative assessment of oral orbicular muscle deformation after cleft lip reconstruction: an ultrasound elastography study.

    Science.gov (United States)

    de Korte, Chris L; van Hees, Nancy; Lopata, Richard G P; Weijers, Gert; Katsaros, Christos; Thijssen, Johan M

    2009-08-01

    Reconstruction of a cleft lip leads inevitably to scar tissue formation. Scar tissue within the restored oral orbicular muscle might be assessed by quantification of the local contractility of this muscle. Furthermore, information about the contraction capability of the oral orbicular muscle is crucial for planning the revision surgery of an individual patient. We used ultrasound elastography to determine the local deformation (strain) of the upper lip and to differentiate contracting muscle from passive scar tissue. Raw ultrasound data (radio-frequency format; rf-) were acquired, while the lips were brought from normal state into a pout condition and back in normal state, in three patients and three normal individuals. During this movement, the oral orbicular muscle contracts and, consequently, thickens in contrast to scar tissue that will not contract, or even expand. An iterative coarse-to-fine strain estimation method was used to calculate the local tissue strain. Analysis of the raw ultrasound data allows estimation of tissue strain with a high precision. The minimum strain that can be assessed reproducibly is 0.1%. In normal individuals, strain of the orbicular oral muscle was in the order of 20%. Also, a uniform strain distribution in the oral orbicular muscle was found. However, in patients deviating values were found in the region of the reconstruction and the muscle tissue surrounding that. In two patients with a successful reconstruction, strain was reduced by 6% in the reconstructed region with respect to the normal parts of the muscle (from 22% to 16% and from 25% to 19%). In a patient with severe aesthetical and functional disability, strain decreased from 30% in the normal region to 5% in the reconstructed region. With ultrasound elastography, the strain of the oral orbicular muscle can be quantified. In healthy subjects, the strain profiles and maximum strain values in all parts of the muscle were similar. The maximum strain of the muscle during

  13. Parents' and children's knowledge of oral health: a qualitative study of children with cleft palate.

    Science.gov (United States)

    Davies, Karen; Lin, Yin-Ling; Callery, Peter

    2017-07-01

    Children with cleft lip and/or palate (CLP) are prone to poorer oral health outcomes than their peers, with serious implications for treatment. Little is known of the knowledge and practice of children with CLP in caring for teeth and how these contribute to oral health. To investigate (i) parents' and children's knowledge of oral health, (ii) how knowledge is acquired, and (iii) how knowledge is implemented. A qualitative design was used to investigate knowledge, beliefs, and practices reported by parents and children, age 5-11 years with CLP. Data were collected from 22 parents and 16 children and analysed using thematic analysis. Four themes were derived as follows: (i) implicit knowledge: children express simple knowledge underpinned by basic rationales, (ii) situated knowledge: children gain skills as part of everyday childhood routines, (iii) maintaining good practice in oral health: parents take a lead role in motivating, monitoring, and maintaining children's toothbrushing, and (iv) learning opportunities: pivotal moments provide opportunities for children to extend their knowledge. Developers of oral health education interventions should take account of children's implicit knowledge and the transmission of beliefs between generations that influence toothbrushing behaviours. This could enhance interventions to support parents and children's practice. © 2016 BSPD, IAPD and John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  14. Oral clefts, consanguinity, parental tobacco and alcohol use: a case-control study in Rio de Janeiro, Brazil

    Directory of Open Access Journals (Sweden)

    Isabel Cristina Gonçalves Leite

    2009-03-01

    Full Text Available This hospital-based, case-control study investigated the possible associations between family history of malformations, parental consanguinity, smoking and alcohol drinking and nonsyndromic orofacial cleft (OC, subdivided in 2 main groups: CL/P - cleft lip with or without cleft palate and CP - cleft palate alone. 274 cases were matched (age, sex and place of residence to 548 controls. Odds ratios (OR and 95% confidence intervals (95% CI - adjusted for maternal age, schooling and smoking / alcohol use - were calculated by conditional logistic regression. The results demonstrated that the history of oral clefts either in the father's (CL/P: OR = 16.00, 5.64-69.23; CP: OR = 6.64, 1.48-33.75 or in the mother's family (CL/P: OR = 5.00, 2.31-10.99, CP: OR = 12.44, 1.33-294.87 was strongly associated with both types of clefts, but parental consanguinity was associated only with CL/P (OR = 3.8, 1.27-12.18. Prevalence of maternal smoking during the first trimester of pregnancy was higher among cases but the OR (1.13, 0.81-1.57 was not statistically significant. Maternal passive smoking (nonsmoking mothers during pregnancy was associated with CL/P (1.39, 1.01-1.98 but not with CP. Maternal alcohol use during the 1st trimester increased odds for CL/P (OR = 2.08, 1.27-3.41 and CP (OR = 2.89, 1.25-8.30, and odds for OC tended to increase with dose. Neither smoking nor alcohol use by fathers increased risks for OC. This study provides further evidence of a possible role of maternal exposure to tobacco smoke and alcohol in the etiology of nonsyndromic oral clefts.

  15. Clefting of the Alveolus: Emphasizing the Distinction from Cleft Palate.

    Science.gov (United States)

    Wirtz, Nicholas; Sidman, James; Block, William

    2016-05-01

    Oral clefting is one of the most common significant fetal abnormalities. Cleft lip and cleft palate have drastically different clinical ramifications and management from one another. A cleft of the alveolus (with or without cleft lip) can confuse the diagnostic picture and lead to a false assumption of cleft palate. The cleft alveolus should be viewed on the spectrum of cleft lip rather than be associated with cleft palate. This is made evident by understanding the embryological development of the midface and relevant terminology. Cleft alveolus carries significantly different clinical implications and treatment options than that of cleft palate. Accurately distinguishing cleft alveolus from cleft palate is crucial for appropriate discussions regarding the patient's care. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  16. Gingival esthetics and oral health-related quality of life in patients with cleft lip and palate.

    Science.gov (United States)

    Stelzle, F; Rohde, M; Oetter, N; Krug, K; Riemann, M; Adler, W; Neukam, F W; Knipfer, C

    2017-08-01

    While the oral health-related quality of life (OHRQoL) is known to be reduced in patients with cleft lip and palate (CLP), its inter-dependency with the soft tissue characteristics of the CLP area remains unclear. This study aimed to evaluate the soft tissue characteristics in the treated cleft area in order to investigate whether gingival esthetics correlate with OHRQoL. Thirty-six patients with unilateral or bilateral CLP (46 cleft areas) were investigated after secondary/tertiary alveolar bone grafting and orthodontic/prosthetic implant treatment using an adapted score to rate gingival esthetics (clinical esthetic score, CES). The patient's OHRQoL was determined using the German short version of the Oral Health Impact Profile questionnaire (OHIP-G14). The results showed a significantly better rating in patients with their own teeth in situ (12.05±1.10) than in patients with implants (6.95±4.78) or prosthetics (4.00±3.58). The best OHRQoL values were achieved by patients with their own teeth integrated into the cleft area (1.32±2.31), followed by patients with implants (2.33±2.33) and prosthetics (3.75±5.87). A significant (P=0.017) correlation was found between OHIP-G14 and CES scores, suggesting an increased OHRQoL in cases with higher oral esthetics in the cleft area. The therapeutic strategy contributes to both gingival esthetics and OHRQoL. The patient's subjective perception of OHRQoL can be attributed to objective gingival esthetic ratings. Copyright © 2017 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  17. Oral Clefting in China Over the Last Decade: 205,679 Patients

    Directory of Open Access Journals (Sweden)

    Rochelle R. Kling, MD

    2014-10-01

    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.

  18. Selected aspects of the oral environment in cleft palate patients – a problem evidently beyond dentists’ scope

    Directory of Open Access Journals (Sweden)

    Joanna AntoszewskaABCD

    2010-12-01

    Full Text Available Introduction:The oral cavity is a specialized ecosystem composed of dentition and mucosa exposed to the effects of saliva and gingival liquid. Its structure provides advantageous conditions for various microorganisms, both aerobic streptococci and anaerobic bacilli. The dynamic balance of the oral cavity ecosystem can be threatened by various factors. Lip and palatal clefts are the most frequent disorders in embryonic facial development. The aim of the study was to evaluate whether Streptococcus mutans and Lactobacillus acidophilus and oral cavity hygiene in patients with cleft palate treated orthodontically are significantly different compared with patients without these congenital malformations.Material/Methods:The study group consisted of 200 patients aged 6–21 who were divided into two groups depending on the presence of cleft palate and treatment method. Group C (control consisted of 50 orthodontically untreated patients with occlusal dental defects. The performed studies consisted of 2 parts: the clinical-laboratory part and statistical analysis.Clinical-laboratory partResults:High bacteria levels of Streptococcus mutans and Lactobacillus acidophilus in saliva of patients were comparably frequent between groups, but there were statistically significant differences in inter-group comparisons.Conclusions:As the orthodontic treatment changes the oral environment, control of proper hygienic behavior is an essential element of health education. Introduction of preventive programs is also very important.

  19. Fissuras lábio-palatais: estudo caso-controle Oral clefts: a case-control study

    Directory of Open Access Journals (Sweden)

    Leonor de Castro Monteiro Loffredo

    1994-06-01

    Full Text Available Realizou-se um estudo caso-controle com o propósito de se detectar possíveis fatores de risco para o aparecimento de fissuras orais. Foram objeto de análise: local de moradia da mãe nos quatro primeiros meses de gestação, poluição, aplicação de pesticida/herbicida na lavoura, doenças dos pais, doenças da mãe nos quatro primeiros meses de gestação, ingestão medicamentosa nesse período, hereditariedade, tabagismo, consumo de bebida alcoólica e exposição a raio-X. Foram aplicados formulários às mães referentes aos 450 casos, sendo 354 portadores de fissuras labiais ou lábio-palatais e 96 de fissuras palatinas, e às mães referentes aos 450 controles. Empregou-se análise multivariada e as variáveis hereditariedade (RR=4,96, epilepsia na mãe (RR=2,39 e ingestão de anti-inflamatório (RR=2,59 foram consideradas fatores de risco para fissuras labiais ou lábio-palatais. As variáveis hereditariedade (RR=2,82 e poluição (RR=2,58 foram consideradas fatores de risco para fissuras palatinas.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 preganacy. 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

  20. Maternal bereavement in the antenatal period and oral cleft in the offspring

    DEFF Research Database (Denmark)

    Ingstrup, K G; Liang, H; Olsen, Jørn

    2013-01-01

    did not have the opportunity to adjust for intake of folic acid and use of anti-depressant; however, analysis in a subset of the data showed no difference in these intakes between exposed and unexposed mothers. WIDER IMPLICATIONS OF THE FINDINGS: With this study we add a large-scale human cohort study...... registers in Denmark from 1978 to 2008. PARTICIPANTS/MATERIALS, SETTING, METHODS: Our final study population consisted of 1 771 663 children. Of these 35 118 (2%) were born to mothers who experienced bereavement in the exposure window from 1 year before pregnancy to the end of the first trimester. MAIN...... to a sudden death, the risk of oral cleft in the offspring was higher (OR: 1.76, 95% CI: 1.06; 2.94). Losing a relative in the time period before pregnancy and during the first trimester showed a tendency to an increased risk. The risk increase was 77% when the mother was bereaved due to sudden death...

  1. Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A

    DEFF Research Database (Denmark)

    Boyles, Abee L; Wilcox, Allen J; Taylor, Jack A

    2009-01-01

    An increased risk of facial clefts has been observed among mothers with lower intake of folic acid or vitamin A around conception. We hypothesized that the risk of clefts may be further moderated by genes involved in metabolizing folate or vitamin A. We included 425 case-parent triads in which th...

  2. Long-term stability of intra-oral maxillary distraction in unilateral cleft lip and palate: a case report.

    Science.gov (United States)

    Nevzatoğlu, Sirin; Küçükkeleş, Nazan; Güzel, Zeki

    2013-11-01

    This case report presents short and long-term treatment results of a unilateral cleft lip and palate patient treated with a modified intra-oral tooth-bone borne distraction appliance. The chief complaints of a 16 year-old, unilateral cleft lip and palate patient were poor facial aesthetics, crowding and a fistula. Severe maxillary retrognathism was treated via distraction osteogenesis of the maxilla and performed using an intra-oral tooth-bone borne appliance. Treatment continued to completion with a multibracket system. At an eight-year review following the distraction procedure, the short and long-term results were determined cephalometrically. Following the distraction, A-point advanced 7 mm, 2 mm of which relapsed during fixed appliance treatment. At the end of the active treatment, the patient's skeletal and dental Class III relationship improved to Class I, which was preserved at the long-term review. The profile was markedly improved by the distraction osteogenesis. In cases of severe maxillary retrognathism as a result of a cleft lip and palate, maxillary distraction osteogenesis provides a viable alternative to orthognathic surgery.

  3. Cleft Lip and Cleft Palate

    Science.gov (United States)

    ... health conditions > Cleft lip and cleft palate Cleft lip and cleft palate E-mail to a friend Please fill in ... repair cleft lip and palate. What are cleft lip and cleft palate? Cleft lip is a birth defect in which ...

  4. Related risk factors of cleft lip and palate in a group of infants born in Tehran (2012-2015

    Directory of Open Access Journals (Sweden)

    R.Hamedi

    2017-10-01

    Full Text Available Background: Cleft lip and palate is one of the most common congenital anomalies. The etiology of non syndromic orofacial clefts is multifactorial. Objective: The aim of this study was to evaluate the related risk factors of cleft lip and palate in a group of infants born in Tehran during the years between 2012-2015. Methods: In this case-control study the files of 105 newborns with oral clefts, and 218 normal newborns as control group with their mothers were evaluated in Mofid Hospital in Tehran. Data were analyzed by Chi-square test. Findings: Among 105 cases, 40 cases (38% were females and 65 cases (62% were males. The frequency of cleft lip and palate, cleft palate and cleft lip were 58%, 27.6% and 14.2% respectively. A significant relationship was found between parents with familial marriage (P=0.001. The highest number of clefts belonged to 25-35 year-old mothers (51.4%, 41% of mothers reported smoking during pregnancy thus maternal smoking would be an effective predisposing factor to have a child with oral clefts (P=0.001. Conclusion: The results of this study indicate that history of familial matrimony, mother’s age above 35 years and maternal smoking during pregnancy can enhance the risk of orofacial clefts 18, 17 and 14 times respectively. These findings emphasize the importance of preconception counseling of mothers-to-be on amendable lifestyle factors in order to reduce the birth prevalence of cleft lip/palate in future generations.

  5. [Progress in studies on the genetic risk factors for nonsyndromic cleft lip or palate in China].

    Science.gov (United States)

    Huang, Y Q

    2017-04-09

    Cleft lip and palate is the most common congenital defects of oral and maxillofacial region in human beings. The etiology of this malformation is complex, with both genetic and environmental causal factors are involved. To provide a better understanding in the genetic etiology of cleft lip or palate, the author summarized recent years studies based on Chinese population. Those researches included validation of some candidate genes for cleft lip or palate, using genome wide association analysis which included six independent cohorts from China to elucidate the genetic architecture of non-syndromic cleft lip with or without cleft palate in Chinese population and finally found a new susceptibility locus. This locus was on the 16p13.3 (rs8049367) between CREBBP and ADCY9. It has been mentioned common methods of genetic analysis involved in the researches on cleft lip or palate in this paper. Furthermore, we try to discuss new methods to illustrate the etiology of cleft lip and palate that could provide more inspiration on future researches.

  6. Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia

    Directory of Open Access Journals (Sweden)

    Shanmugasundaram Karthikeyani

    2016-01-01

    Full Text Available Rapp-Hodgkin syndrome (RHS is a rare type of autosomal dominant disorder characterized by association of ectodermal dysplasia (ED with cleft lip/palate. The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (hypodontia, microdontia with delayed eruption, fissured tongue, and retruded maxilla, hypohidrosis, dysplastic nails, and clefting. Palmar-plantar keratoderma is seen frequently. RHS has signs and symptoms that overlap considerably with those of ankyloblepharon-ED-clefting syndrome and ectrodactyly-ED-clefting syndrome. This manuscript discusses a case of RHS, one of the four members in three generations who had ED with variable degree of involvement of hair, teeth, nail, and sweat glands.

  7. Supernumerary teeth in non-syndromic patients

    Energy Technology Data Exchange (ETDEWEB)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh [Nair Hospital Dental College, Maharashtra (India)

    2012-03-15

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  8. Supernumerary teeth in non-syndromic patients

    International Nuclear Information System (INIS)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

    2012-01-01

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  9. Use of corticosteroids in early pregnancy is not associated with risk of oral clefts and other congenital malformations in offspring

    DEFF Research Database (Denmark)

    Bay Bjørn, Anne-Mette; Ehrenstein, Vera; Hundborg, Heidi Holmager

    2012-01-01

    Corticosteroids are commonly used to treat inflammatory diseases. There is conflicting evidence regarding the association of corticosteroid use in pregnancy and congenital malformations in offspring. We conducted a prevalence study of 83,043 primiparous women who gave birth to a live-born singleton...... in northern Denmark, in 1999-2009. Through medical registries, we identified prescriptions for corticosteroids, congenital malformations, and covariates. Furthermore, we summarized the literature on this topic. Overall, 1449 women (1.7%) used inhaled or oral corticosteroids from 30 days before conception...... throughout the first trimester. Oral cleft in the offspring was recorded for 1 of the users (0.08%) and 145 of the nonusers (0.2%), prevalence odds ratio (OR) 0.47 [95% confidence interval (CI), 0.07-3.34]. The prevalence OR for congenital malformations overall was 1.02 (95% CI, 0.79-1.32). According...

  10. Global oral health inequalities: challenges in the prevention and management of orofacial clefts and potential solutions.

    Science.gov (United States)

    Mossey, P A; Shaw, W C; Munger, R G; Murray, J C; Murthy, J; Little, J

    2011-05-01

    The birth prevalence of orofacial clefts, one of the most common congenital anomalies, is approximately one in 700 live births, but varies with geography, ethnicity, and socio-economic status. There is a variation in infant mortality and access to care both between and within countries, so some clefts remain unrepaired into adulthood. Quality of care also varies, and even among repaired clefts there is residual deformity and morbidity that significantly affects some children. The two major issues in attempts to address these inequalities are (a) etiology/possibilities for prevention and (b) management and quality of care. For prevention, collaborative research efforts are required in developing countries, in line with the WHO approach to implement the recommendations of the 2008 Millennium Development Goals (www.un.org/millenniumgoals). This includes the "common risk factor" approach, which analyzes biological and social determinants of health alongside other chronic health problems such as diabetes and obesity, as outlined in the Marmot Health inequalities review (2008) (www.ucl.ac.uk/gheg/marmotreview). Simultaneously, orofacial cleft research should involve clinical researchers to identify inequalities in access to treatment and identify the best interventions for minimizing mortality and residual deformity. The future research agenda also requires engagement with implementation science to get research findings into practice.

  11. Oral strength in subjects with a unilateral cleft lip and palate.

    NARCIS (Netherlands)

    J. Plettinck; K. Bettens; Anke Luyten; N. Roche; H. Vermeersch; K. Bonte; K. van Lierde

    2014-01-01

    PURPOSE: Facial appearance and speech outcome may affect psychosocial functioning in girls and boys. Several studies reported dissatisfaction with facial appearance and more specifically the lip and mouth profile in children with cleft lip and palate (CLP). The purpose of this controlled study was

  12. The influence of socioeconomic status on oral health-related quality of life among Syrian children with cleft lip, or palate, or both.

    Science.gov (United States)

    Dak-Albab, Rahaf J; Dashash, Mayssoon A

    2013-02-01

    To investigate the impact of socioeconomic status (SES) on the oral health-related quality of life (OHRQoL) among Syrian children with cleft lip, or palate, or both (CL/P). A cross-sectional study was carried out at the Pediatric Dentistry Department, Damascus University, Damascus, Syria from April 2010 to May 2011. After excluding subjects with mental disorders, dumb and/or deaf, as well, 87 cleft-children have completed the Arabic version of the Child Oral Health-Related Quality of Life Questionnaire (COHRQoL, 36-item) that was divided into 4 different domains (Oral Symptoms, Functional Limitations, Emotional Well-Being, Social Well-Being). The SES was measured by 5 questions, and based on those questions, it was divided into 3 categories (high, moderate, low). The chi square test, and ANOVA test were used to perform statistical analysis. Overall, the 4 COHRQoL domains, and each Oral Symptoms, Emotional Well-Being, and Social Well-Being domain separately showed significant differences between cleft-children in different SES levels (p<0.05). Children that belonged to a low level of SES were more worried than the others, and they also have lost more school lessons, and avoided social activities. We found that the decrease of SES can affect negatively the OHRQoL among children with CL/P. Low SES cleft-children may require special psychological and social support.

  13. Incidence of Cleft Lip and Palate in Uganda

    NARCIS (Netherlands)

    Dreise, Marieke; Galiwango, George; Hodges, Andrew

    Objective: The purpose of the study was to estimate the need for resources for cleft repairs in Uganda by determining the overall incidence of oral-facial clefts and the ratio of isolated cleft lip to isolated cleft palate to cleft lip and palate. Design: A 1-year prospective study was implemented

  14. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP Part 4: Oral Rehabilitation

    Directory of Open Access Journals (Sweden)

    Jose Alberto de Souza FREITAS

    2013-06-01

    Full Text Available 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.

  15. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP) - Part 4: oral rehabilitation.

    Science.gov (United States)

    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.

  16. Evaluation of two putative susceptibility loci for oral clefts in the Danish population

    DEFF Research Database (Denmark)

    Mitchell, L E; Murray, J C; O'Brien, S

    2001-01-01

    . The present study evaluated potential associations between CL+/-P and CP and two putative clefting susceptibility loci, MSX1 and TGFB3, using data from a nationwide case-control study conducted in Denmark from 1991 to 1994. The potential effects of interactions between these genes and two common environmental......-environment interactions involving MSX1 or TGFB3 and either first trimester exposure to maternal cigarette smoke or alcohol consumption....

  17. Maternal Risk Factors Associated with Cleft Lip with or without Cleft Palate: A Review

    OpenAIRE

    Barrera, Catalina; Mezarobba, Naiara

    2016-01-01

    Disruptions in the development of the nasal and oral structures lead to cleft palate and cleft lip. There are many different factors that can affect this development such as genetic, mechanical traumas or teratogeny. The oral clefts are one of the most common birth defects worldwide affecting approximately 1 in 700 to 1000 children. The development of oral clefts is multifactorial and affect a significant portion of the population. The study results showed that smoking is the risk factor most...

  18. Maternal plasma pyridoxal-5'-phosphate concentrations and risk of isolated oral clefts in the Philippines.

    Science.gov (United States)

    Tamura, Tsunenobu; Munger, Ronald G; Nepomuceno, Buena; Corcoran, Christopher; Cembrano, Joselito; Solon, Florentino

    2007-04-01

    We report that inadequate vitamin B-6 status of Filipino mothers, assessed by erythrocyte aspartate aminotransferase activity coefficient (EAST-AC), is associated with an increased risk for isolated cleft lip with or without cleft palate (CL/P) in their children. Its association with the status assessed by plasma pyridoxal-5'-phosphate (PLP) concentrations is unknown. In a case-control study in the Philippines including 46 cases (mothers of a child with CL/P) and 392 controls (mothers of an unaffected child), we evaluated the association between the risk for CL/P and maternal vitamin B-6 status assessed by PLP and EAST-AC. The ORs of CL/P were estimated by classifying mothers by PLP (>30, 20-30, and values, compared to those with adequate status by both values. Inadequate vitamin B-6 status assessed by maternal PLP and EAST-AC values independently and both combined was associated with an increased risk for CL/P. The association was highest when both values were considered, suggesting that the measurement of both PLP and EAST-AC provides better assessment of vitamin B-6 status than either measurement alone.

  19. Ethnic Variation in Oral Cleft Occurrence in Denmark 1981–2002

    DEFF Research Database (Denmark)

    Pedersen, Grete Skøtt; Pedersen, Dorthe Almind; Mortensen, Laust Hvas

    2014-01-01

    . This was not the case for any of the mixed parental groups. Overall and subtype prevalence rates varied according to maternal categories of world region. Conclusion :   In this study we found differences in OC occurrence among all live births in the Danish population based on maternal country of origin from 1981...... cases were categorized into isolated and nonisolated cleft lip with or without palate (CL/P) and cleft palate only (CP). Birth prevalence was calculated as cases per 1,000 live born children by maternal country of origin, world region, and mixed parental groups. Results :   We identified 3094 OC cases...... among 1,319,426 live births. Danish-born women had an OC birth prevalence of 2.38 with a 95% confidence interval (CI) (2.29-2.47) and foreign-born women a significant lower prevalence of 2.01 (CI, 1.77-2.27). This difference was explained by a lower isolated CL/P birth prevalence among foreign...

  20. Assessment of nostril symmetry after primary cleft rhinoplasty in patients with complete unilateral cleft lip and palate

    NARCIS (Netherlands)

    Reddy, S.G.; Devarakonda, V.; Reddy, RR

    2013-01-01

    The aim of this study was to assess the nostril symmetry following primary cleft rhinoplasty done with either a dorsal onlay or columellar strut graft in patients with non-syndromic complete unilateral cleft lip and palate. In this retrospective study 30 consecutive patients treated with autogenous

  1. Investigating Oral Microbiome Profiles in Children with Cleft Lip and Palate for Prognosis of Alveolar Bone Grafting.

    Directory of Open Access Journals (Sweden)

    Luwei Liu

    Full Text Available 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

  2. Non-syndromic supernumerary teeth: report of a case with 6 supernumerary teeth

    Directory of Open Access Journals (Sweden)

    Taghibakhsh M

    2011-02-01

    Full Text Available "nBackground and Aims: Multiple supernumerary teeth are rare and often found in association with syndromes such as Gardner, Cleidocranial dysplasia and cleft lip and palate, with a much less chance for isolated"nnon-syndromic cases. The aim of this study was to report a case with 6 supernumerary teeth without syndromic association."nCase Report: The patient was a 33 year-old female, referred to oral diseases and diagnosis department with chief complaint of sensitivity to cold and hot food in right upper premolar region. Oral examination revealed 5 erupted lingually supernumerary teeth (four in mandibular and one in maxillary premolar region, respectively. Further panoramic radiography clarified an extra impacted tooth in the palatal region of left premolar maxillary area. All extra teeth had been appeared since the age of 17 during one year, as the patient claimed. Medical history and thorough clinical and paraclinical examinations were not significant except for the hypothyroidism, since 5 years ago. No other family member noticed to be the case. Based on our findings, a diagnosis of non-syndromic multiple supernumerary teeth was established."nConclusion: A thorough examination of each patient presented with supernumerary teeth, including panoramic and intraoral radiographic images may provide valuable information regarding accompanying syndromes and unerupted teeth. Early diagnosis is an essential step for orthodontic or surgical decisions making, preventing or avoiding worsening complications such as malocclusion, adjacent normal teeth delayed eruption or rotation, diasthema, cystic lesions and resorption of contiguous teeth.

  3. Non-syndromic retinitis pigmentosa

    NARCIS (Netherlands)

    Verbakel, S.K. (Sanne K.); R.A.C. van Huet (Ramon A. C.); C.J.F. Boon (Camiel); A.I. Hollander (Anneke); R.W.J. Collin (Rob); C.C.W. Klaver (Caroline); C. Hoyng (Carel); R. Roepman (Ronald); B.J. Klevering (Jeroen)

    2018-01-01

    textabstractRetinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP cases are non-syndromic,

  4. The 100 Most-Cited Human Cleft Lip and Palate-Related Articles Published in Dentistry, Oral Surgery, and Medicine Journals.

    Science.gov (United States)

    Christou, Panagiotis; Antonarakis, Gregory S

    2015-07-01

    To identify the 100 most-cited articles pertaining to human cleft lip and palate research published in dentistry, oral surgery, and medicine journals and to identify their principal bibliometric characteristics. Web-based bibliometric analysis. The Web of Science was searched to identify the 100 most-cited clinical articles related to cleft lip and/or palate. Information was extracted with regard to total number of citations, number of authors, affiliations, year, and journal of publication, Medical Subject Headings, type of study, specific area of study. Trends in citations were assessed. The 100 most-cited articles identified received between 437 and 58 citations. The oldest was published in 1954 and the most recent in 2008. The number of authors ranged from 1 to 12, with an average of three authors per article. Most of the first authors were affiliated with institutions in the United States, with the most prolific institution being the University of Iowa. More than 70% of the studies appeared in The Cleft Palate-Craniofacial Journal. There was a significant negative correlation between average citations per year and time since publication (P research published in dentistry, oral surgery, and medicine journals are listed and characterized. This can be used as a potential knowledge base for specialists in training or to produce relevant knowledge defining the direction of future research.

  5. Cleft Lip and Cleft Palate

    Science.gov (United States)

    ... refers to a cleft in the lip only accounting for 20 percent of all clefts. What causes ... malformation of the upper airway can affect the function of the Eustachian tube and increase the possibility ...

  6. Oral Health-Related Quality of Life in Children in Chile Treated for Cleft Lip and Palate: A Case-Control Approach.

    Science.gov (United States)

    Aravena, Pedro C; Gonzalez, Tania; Oyarzún, Tamara; Coronado, César

    2017-03-01

      To compare the oral health-related quality of life of patients treated for cleft lip and/or cleft palate (CL/P) versus unaffected children between 8 and 15 years of age using a Spanish-language version of the Child Oral Health Impact Profile (COHIP-Sp) administered to a Chilean population.   A cross-sectional study with a matched case-control design was used.   Participants were 48 children (mean age 11.3 years) with a history of CL/P from three cities in Chile and one group of 96 children (mean age 11.2 years) unaffected by CL/P. The COHIP-Sp was applied to both groups. Quality of life was compared according to the overall score and the average score of items and domains on the COHIP-Sp scale between the two groups (Mann-Whitney U test; P self-image" (P = .0002).   The oral health-related quality of life of children with a history of CL/P was similar to that of the control group. Nevertheless, a lower quality of life was observed concerning items associated with speech and being understood by other people. Further study into the risk factors associated with surgery and rehabilitative treatment is recommended.

  7. Epidemiology, Etiology, and Treatment of Isolated Cleft Palate

    Science.gov (United States)

    Burg, Madeleine L.; Chai, Yang; Yao, Caroline A.; Magee, William; Figueiredo, Jane C.

    2016-01-01

    Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher in females compared to males. Approximately fifty percent of cases born with cleft palate occur as part of a known genetic syndrome or with another malformation (e.g., congenital heart defects) and the other half occur as solitary defects, referred to often as non-syndromic clefts. The etiology of CPO is multifactorial involving genetic and environmental risk factors. Several animal models have yielded insight into the molecular pathways responsible for proper closure of the palate, including the BMP, TGF-β, and SHH signaling pathways. In terms of environmental exposures, only maternal tobacco smoke has been found to be strongly associated with CPO. Some studies have suggested that maternal glucocorticoid exposure may also be important. Clearly, there is a need for larger epidemiologic studies to further investigate both genetic and environmental risk factors and gene-environment interactions. In terms of treatment, there is a need for long-term comprehensive care including surgical, dental and speech pathology. Overall, five main themes emerge as critical in advancing research: (1) monitoring of the occurrence of CPO (capacity building); (2) detailed phenotyping of the severity (biology); (3) understanding of the genetic and environmental risk factors (primary prevention); (4) access to early detection and multidisciplinary treatment (clinical services); and (5) understanding predictors of recurrence and possible interventions among families with a child with CPO (secondary prevention). PMID:26973535

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

    Science.gov (United States)

    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…

  9. Oral health-related quality of life in young Cambodian children: a validation study with a focus on children with cleft lip and/or palate.

    Science.gov (United States)

    Khoun, Tola; Malden, Penelope E; Turton, Bathsheba J

    2018-05-01

    Oral Health-Related Quality-of-Life (OHRQoL) measures have been developed and cross-culturally validated for use in many populations in recent years. Their use in children with cleft lip and/or palate (CLP), however, is not as well established. This study aimed to validate two OHRQoL instruments for use with Cambodian children and to describe the OHRQoL of a sample of Cambodian children with CLP, compared with other children in the same cohort. A convenience sample of 133 children aged 2-8 years and their families was recruited from two NGO health services in urban and rural areas of Cambodia. Children were assigned into clinical groups of cleft, malocclusion, severe caries (PUFA ≥ 1), and dentine caries. OHRQoL was measured using the Parental-Caregivers Perception Questionnaire (P-CPQ-16) and Family Impact Scale (FIS-8). The validity of the instruments was acceptable with an expected gradient in both scale scores being evident across self-reported oral health ratings. Children with CLP and their families experienced significantly greater impacts on OHRQoL, and the pattern of these impacts differed among the clinical groups. This study has confirmed the validity of the P-CPQ-16 and FIS-8 for use with young Cambodian children. The results impart advocacy for needed improvements in the care of children with CLP and provide a foundation for future epidemiological research of oral health in Cambodia. © 2018 BSPD, IAPD and John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. Facts about Cleft Lip and Cleft Palate

    Science.gov (United States)

    ... Information For… Media Policy Makers Facts about Cleft Lip and Cleft Palate Language: English (US) Español (Spanish) Recommend on Facebook ... can make referrals to cleft/craniofacial treatment teams. Cleft Lip & Palate Foundation of Smiles Cleft Lip & Palate Foundation of ...

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

    Science.gov (United States)

    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.

  12. Effects of Brazilian Propolis on Dental Plaque and Gingiva in Patients with Oral Cleft Malformation Treated with Multibracket and Removable Appliances: A Comparative Study

    Directory of Open Access Journals (Sweden)

    Agnieszka Machorowska-Pieniążek

    2016-01-01

    Full Text Available Orthodontic appliances modify the local environment of the oral cavity, increase the accumulation of dental plaque, and affect the condition of the gingiva. The aim of this study is assessment of Brazilian propolis toothpaste’s effect on plaque index (PLI and gingival index (GI in patients with CL/CLP treated using orthodontic appliances in the 35-day study period. The study population included 96 patients of an Orthodontic Outpatient Clinic, ACSiMS in Bytom. All the patients participated in the active phase of orthodontic treatment using buccal multibracket appliances or removable appliances. During the first examination, each patient was randomly qualified to the propolis group or control group. A statistically significant decrease in GI and PLI in the entire propolis group (P<0.01 was shown during repeated examination. Insignificant change in GI was in the entire control group during the repeated examination compared to the baseline. Similar result was obtained in patients treated with multibracket and removable appliances. The orthodontic appliance type did not affect the final dental plaque amount and gingival condition in patients using the propolis toothpaste. These results may be clinically useful to improve prevention and control oral infectious diseases during orthodontic treatment patients with oral cleft.

  13. Effects of Brazilian Propolis on Dental Plaque and Gingiva in Patients with Oral Cleft Malformation Treated with Multibracket and Removable Appliances: A Comparative Study.

    Science.gov (United States)

    Machorowska-Pieniążek, Agnieszka; Skucha-Nowak, Małgorzata; Mertas, Anna; Tanasiewicz, Marta; Niedzielska, Iwona; Morawiec, Tadeusz; Baron, Stefan

    2016-01-01

    Orthodontic appliances modify the local environment of the oral cavity, increase the accumulation of dental plaque, and affect the condition of the gingiva. The aim of this study is assessment of Brazilian propolis toothpaste's effect on plaque index (PLI) and gingival index (GI) in patients with CL/CLP treated using orthodontic appliances in the 35-day study period. The study population included 96 patients of an Orthodontic Outpatient Clinic, ACSiMS in Bytom. All the patients participated in the active phase of orthodontic treatment using buccal multibracket appliances or removable appliances. During the first examination, each patient was randomly qualified to the propolis group or control group. A statistically significant decrease in GI and PLI in the entire propolis group (P appliances. The orthodontic appliance type did not affect the final dental plaque amount and gingival condition in patients using the propolis toothpaste. These results may be clinically useful to improve prevention and control oral infectious diseases during orthodontic treatment patients with oral cleft.

  14. Submucous Clefts

    Science.gov (United States)

    ... Find Local Cleft/Craniofacial Specialists Booklets & Factsheets College Scholarships School-Age Support Resources Connections Conference View More… ... for speech problems, middle ear disease, and swallowing difficulties. However, there are some individuals with a submucous ...

  15. The effect of systematic pediatric care on neonatal mortality and hospitalizations of infants born with oral clefts

    Directory of Open Access Journals (Sweden)

    Wehby George L

    2011-12-01

    Full Text Available Abstract Background Cleft lip and/or palate (CL/P increase mortality and morbidity risks for affected infants especially in less developed countries. This study aimed at assessing the effects of systematic pediatric care on neonatal mortality and hospitalizations of infants with cleft lip and/or palate (CL/P in South America. Methods The intervention group included live-born infants with isolated or associated CL/P in 47 hospitals between 2003 and 2005. The control group included live-born infants with CL/P between 2001 and 2002 in the same hospitals. The intervention group received systematic pediatric care between the 7th and 28th day of life. The primary outcomes were mortality between the 7th and 28th day of life and hospitalization days in this period among survivors adjusted for relevant baseline covariates. Results There were no significant mortality differences between the intervention and control groups. However, surviving infants with associated CL/P in the intervention group had fewer hospitalization days by about six days compared to the associated control group. Conclusions Early systematic pediatric care may significantly reduce neonatal hospitalizations of infants with CL/P and additional birth defects in South America. Given the large healthcare and financial burden of CL/P on affected families and the relatively low cost of systematic pediatric care, improving access to such care may be a cost-effective public policy intervention. Trial Registration ClinicalTrials.gov: NCT00097149

  16. Cleft palate with/without cleft lip in French children: radiographic evaluation of prevalence, location and coexistence of dental anomalies inside and outside cleft region.

    Science.gov (United States)

    Mangione, Francesca; Nguyen, Laure; Foumou, Nathalie; Bocquet, Emmanuelle; Dursun, Elisabeth

    2018-03-01

    Prevalence of dental anomalies in cleft patients is higher than that in general population. The objectives of this study were to assess the prevalence of dental anomalies and their coexistence in French children with cleft and, then, to investigate the relation between the dental anomalies and the cleft type. Seventy-four non-syndromic cleft patients (6-16 years old) from Lille Regional University and Mondor-Chenevier Hospitals (France) were included. Clefts were classified as right/left unilateral cleft lip and palate (UCLP), bilateral cleft lip and palate (BCLP) and cleft palate (CP). Dental anomalies were investigated on panoramic radiographs and categorized as agenesis, supernumerary teeth, incisor rotations, impacted canines and shape anomalies. Prevalence and gender distribution of dental anomalies, mean number of affected teeth per patient, agenesis occurrence and location, and coexistence of dental anomalies were analysed by cleft type. 96.0% of patients presented at least one dental anomaly (agenesis 83.8%, incisor rotations 25.7%, shape anomalies 21.6%, impacted canines 18.9%, supernumerary teeth 8.1%). BCLP patients had a higher number of affected teeth, and left UCLP patients had a higher one compared to right UCLP patients. Distribution of inside (45.3%) and outside (54.7%) cleft region agenesis was similar. Adjacent (31.8%) and not adjacent (33.3%) combined dental anomalies were often encountered. Dental anomalies were localized inside as well as outside cleft region and were often associated with each other. BCLP patients were more affected. Early radiographic evaluation allows a comprehensive diagnosis of inside and outside cleft region anomalies, required for the multidisciplinary dental treatment.

  17. Cause analysis, prevention, and treatment of postoperative restlessness after general anesthesia in children with cleft palate

    OpenAIRE

    Xu, Hao; Mei, Xiao-Peng; Xu, Li-Xian

    2017-01-01

    Cleft palate is one of the most common congenital malformations of the oral and maxillofacial region, with an incidence rate of around 0.1%. Early surgical repair is the only method for treatment of a cleft lip and palate. However, because of the use of inhalation anesthesia in children and the physiological characteristics of the cleft palate itself combined with the particularities of cleft palate surgery, the incidence rate of postoperative emergence agitation (EA) in cleft palate surgery ...

  18. Cleft Lip and Palate

    Science.gov (United States)

    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 ... A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the ...

  19. Cleft lip and palate: an adverse pregnancy outcome due to undiagnosed maternal and paternal coeliac disease.

    Science.gov (United States)

    Arakeri, Gururaj; Arali, Veena; Brennan, Peter A

    2010-07-01

    Development of orofacial component involves a complex series of events. Any insult to this significant event can lead to various orofacial cleft defects. The main categories among orofacial clefts are isolated cleft palate and cleft lip with or without cleft palate. There have been many factors implicated in the development of the anomaly. The environmental factors which contribute and the genes which predispose to the condition remain obscure despite decades of research. Though it is generally agreed that folic acid deficiency is a contributory factor for non-syndromic cleft lip and palate, fewer concerns are directed towards the role for maternal/paternal nutrition in orofacial cleft origin. However, previously undescribed, here we consider the potential influence of maternal and paternal coeliac disease on the etiology of non-syndromic cleft lip and palate as an unfavorable pregnancy outcome. We postulated this relationship based on our observation, study and an empirical survey, and could be due either to (I) folic acid mal absorption (II) a genetically mediated genomic imprinting system. Copyright 2010 Elsevier Ltd. All rights reserved.

  20. Oral folic acid supplementation decreases palate and/or lip cleft occurrence in Pug and Chihuahua puppies and elevates folic acid blood levels in pregnant bitches.

    Science.gov (United States)

    Domosławska, A; Jurczak, A; Janowski, T

    2013-01-01

    The aim of this study was to compare the frequency of the occurrence of lip and/or palate cleft (CL/CP) in new-borns of two breeds, Pugs and Chihuahuas, and to measure the folic acid blood levels in bitches during gestations both with and without folic acid oral supplementation. Bitches of 13 Pugs and 17 Chihuahuas with CL/CP cases were used in the study. In trial 1, the animals of the experimental group (n=25) were given additional folic acid from the onset of heat till the 40th day of gestation. The females of the control group (n=12) were fed a traditional diet. From all the animals blood was collected at the onset of heat, 14 days later and on the 30th day of the gestation to estimate folic acid concentration. In trial 2, the prevalence of CP/CL cases in litters from pregnancies before and after supplementation was compared. The percentage of puppies with CL/CP after supplementation decreased in both Pugs and Chihuahua puppies (10.86% and 15.78% vs. 4.76% and 4.8% respectively). On Day 0, the concentrations of folic acid were at a low physiological level (around 8 ng/ml) in all the animals. In bitches of the experimental group the blood level of folic acid on day 14th and 30th of the treatment showed an increase in both breeds (13.65 +/- 4.27 ng/ml in Pugs, 10.79 +/- 2.84 ng/ml in Chihuahuas, and 14.94 +/- 3.22 ng/ml in Pugs, 12.95 +/- 3.58 in Chihuahuas, respectively) while in the control group, this level decreased with time of gestation both in Pugs and in Chihuahuas (around 6 ng/ml). Folic acid supplementation seems to be a simple, effective preventive method to reduce the risk of CL/CP, especially in the predisposed breeds.

  1. Cleft lip and palate: series of unusual clinical cases.

    Science.gov (United States)

    Paranaíba, Lívia Máris Ribeiro; Miranda, Roseli Teixeira de; Martelli, Daniella Reis Barbosa; Bonan, Paulo Rogério Ferreti; Almeida, Hudson de; Orsi Júnior, Julian Miranda; Martelli Júnior, Hercílio

    2010-01-01

    Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face, corresponding to approximately 65% of all malformations of the craniofacial region. to describe unusual clinical cases of non-syndromic CL/P (CL/PNS), diagnosed in a reference service in Minas Gerais, Brazil, and correlate these alterations with possible risk factors. we carried out a retrospective study, between the years of 1992 and the 1st half of 2009, from medical records. Among the 778 cases of CL/PNS diagnosed in the period of 17 years, 5 (0.64%) were unusual CL/PNS, and all patients were male. It was found that among the 5 patients, 2 had incomplete right cleft lip with incomplete cleft palate, 2 were affected by left incomplete cleft lip and incomplete cleft palate, and 1 had a cleft lip and palate associated with complete right cleft palate. Risk factors such as consanguinity, maternal smoking and alcohol consumption, medication usage during pregnancy, history of abortion and/or stillbirths and maternal diseases were not associated with unusual CL/PNS. This study described 5 unusual cases of CL/PNS in a Brazilian population; no associations with the risk factors analyzed were seen. It also confirmed the unusualness of the prevalence of such alterations.

  2. Epiphysical clefts

    International Nuclear Information System (INIS)

    Brent Harrison, R.; Keats, T.E.

    1980-01-01

    Defects or clefts may be seen in the growing epiphysis and are usually observed just before puberty. The basal epiphysis of the proximal phalanx of the great toe is the most common site but similar defects have been observed in a numer of other epiphyseso At least some of these defects develop within a single normal appearing epiphysis and are not associated with signs or symptoms suggestive of fracture. The mechanism of formation of these defects is not clear. The defects probably close spontaneously some-time around late puberty. (orig.) [de

  3. Definition of critical periods for Hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate.

    Directory of Open Access Journals (Sweden)

    Galen W Heyne

    Full Text Available 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.

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

    Science.gov (United States)

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

    2016-04-01

    The study was conducted to examine the patients with abnormalities of cleft lip and/or palate and its association with different types of malocclusion. 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 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. 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.

  5. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies - USP (HRAC-USP - part 3: Oral and Maxillofacial Surgery

    Directory of Open Access Journals (Sweden)

    José Alberto de Souza Freitas

    2012-12-01

    Full Text Available This paper presents the treatment protocol of maxillofacial surgery in the rehabilitation process of cleft lip and palate patients adopted at HRAC-USP. Maxillofacial surgeons are responsible for the accomplishment of two main procedures, alveolar bone graft surgery and orthognathic surgery. The primary objective of alveolar bone graft is to provide bone tissue for the cleft site and then allow orthodontic movements for the establishment of an an adequate occlusion. When performed before the eruption of the maxillary permanent canine, it presents high rates of success. Orthognathic surgery aims at correcting maxillomandibular discrepancies, especially anteroposterior maxillary deficiencies, commonly observed in cleft lip and palate patients, for the achievement of a functional occlusion combined with a balanced face.

  6. Current data on the characterization of oral clefts in Brazil Informações atuais sobre a caracterização das fissuras orofaciais no Brasil

    Directory of Open Access Journals (Sweden)

    José Alberto de Souza Freitas

    2004-06-01

    Full Text Available This study aimed at investigating the current distribution of the several types of clefts among the patients receiving treatment at the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC-USP, Bauru, Brazil, for the first time during the year 2000. A total of 803 unoperated patients with cleft lip and/or palate, with or without additional malformations, with no recognizable syndromes, who came to the HRAC-USP for enrollment for treatment during the year 2000. A predominance of complete cleft lip and palate, either unilateral or bilateral, was observed (37.1%, followed by isolated cleft palate (31.7% and isolated cleft lip (28.4%. A discrete relationship between cleft palate and the female gender was noticed (53%, and males were more affected by the other types of clefts (around 60%. The findings revealed a predominance of complete clefts of the primary and secondary palate, the treatment of which is more complex, and whose frequency is greater in males.Foi objetivo do presente estudo investigar a distribuição atual dos vários tipos de fissuras entre pacientes que compareceram ao Hospital de Reabilitação de Anomalias Craniofaciais (HRAC-USP, Bauru, Brasil, pela primeira vez, no ano de 2000. No total, 803 pacientes não operados com fissura de lábio e/ou palato, com ou sem malformações adicionais, sem síndromes reconhecíveis, compareceram ao HRAC-USP para inscrição para tratamento durante o ano de 2000. Foi observada predominância de fissura completa de lábio e palato, unilateral ou bilateral (37,1%, seguida pela fissura de palato isolada (31,7% e fissura de lábio isolada (28,4%. Foi notada uma relação discreta entre a fissura de palato e o gênero feminino (53%, sendo o gênero masculino mais afetado pelos outros tipos de fissuras (cerca de 60%. Os achados revelaram uma predominância de fissuras completas do palato primário e secundário, cujo tratamento é mais complexo, e uma maior ocorrência no gênero masculino.

  7. Cleft Palate Foundation

    Science.gov (United States)

    ... craniofacial journeys. Read the press release here. American Cleft Palate-Craniofacial Association 1504 East Franklin Street, Suite 102 ... order bottles Order ACPA publications © Copyright 2017 American Cleft Palate-Craniofacial Association. Website by Mixer Creative Follow us ...

  8. An evaluation of surgical outcome of bilateral cleft lip surgery using a modified Millard′s (Fork Flap technique

    Directory of Open Access Journals (Sweden)

    W L Adeyemo

    2013-01-01

    Full Text Available Background: The central third of the face is distorted by the bilateral cleft of the lip and palate and restoring the normal facial form is one of the primary goals for the reconstructive surgeons. The history of bilateral cleft lip repair has evolved from discarding the premaxilla and prolabium and approximating the lateral lip elements to a definitive lip and primary cleft nasal repair utilising the underlying musculature. The aim of this study was to review surgical outcome of bilateral cleft lip surgery (BCLS done at the Lagos University Teaching Hospital. Materials and Methods: A review of all cases of BCLS done between January 2007 and December 2012 at the Lagos University Teaching Hospital was done. Data analysis included age and sex of patients, type of cleft deformity and type of surgery (primary or secondary and whether the cleft deformity was syndromic and non-syndromic. Techniques of repair, surgical outcome and complications were also recorded. Results: A total of 39 cases of BCLS involving 21 males and 18 females were done during the period. This constituted 10% (39/390 of all cases of cleft surgery done during the period. There were 5 syndromic and 34 non-syndromic cases. Age of patients at time of surgery ranged between 3 months and 32 years. There were 24 bilateral cleft lip and palate deformities and 15 bilateral cleft lip deformities. Thirty-one of the cases were primary surgery, while 8 were secondary (revision surgery. The most common surgical technique employed was modified Fork flap (Millard technique, which was employed in 37 (95% cases. Conclusion: Bilateral cleft lip deformity is a common cleft deformity seen in clinical practice, surgical repair of which can be a challenge to an experienced surgeon. A modified Fork flap technique for repair of bilateral cleft lip is a reliable and versatile technique associated with excellent surgical outcome.

  9. Cleft lip with or without cleft palate and dermatoglyphic asymmetry: evaluation of a Chinese population.

    Science.gov (United States)

    Neiswanger, K; Cooper, M E; Weinberg, S M; Flodman, P; Keglovits, A Bundens; Liu, Y; Hu, D N; Melnick, M; Spence, M A; Marazita, M L

    2002-08-01

    To determine if Chinese individuals with non syndromic cleft lip with or without cleft palate (CL/P) display more dermatoglyphic asymmetry than unaffected relatives or controls. Case-control study with two control groups (genetically related and unrelated). A total of 500 CL/P probands from Shanghai, China, 421 unaffected relatives, and 66 controls of Chinese heritage. Finger and palm prints were collected, and pattern frequencies, total ridge counts (TRC), and atd angles were calculated. Asymmetry scores between right and left hands were defined for each of the three dermatoglyphic measures. Probands' asymmetry scores were compared statistically with the scores of unaffected relatives and controls. In general, the probands' asymmetry scores for TRC and atd angle did not differ significantly from the scores of either unaffected relatives or controls. However, probands with a positive family history of clefting showed significantly more asymmetry in their pattern types than either probands without a family history, unaffected relatives or controls. These results suggest that a unique genetic mechanism of developmental instability may obtain in CL/P individuals with a positive family history of clefting.

  10. Comparing caries risk profiles between 5- and 10- year-old children with cleft lip and/or palate and non-cleft controls

    DEFF Research Database (Denmark)

    Sundell, Anna Lena; Ullbro, Christer; Marcusson, Agneta

    2015-01-01

    of cleft lip and/or palate (CL(P)) children with non-cleft controls in the same age using a computerized caries risk assessment model. METHODS: The study group consisted of 133 children with CL(P) (77 subjects aged 5 years and 56 aged 10 years) and 297 non-cleft controls (133 aged 5 years and 164 aged 10......BACKGROUND: Previous studies have suggested that children with oral clefts may have higher caries prevalence in comparison with non-cleft controls but the relative importance of the potential risk factors is not clear. The aim of this study was to compare the caries risk profiles in a group...

  11. Dental Anomalies in a Brazilian Cleft Population.

    Science.gov (United States)

    Sá, Jamile; Mariano, Lorena C; Canguçu, Daiane; Coutinho, Thaynara S L; Hoshi, Ryuichi; Medrado, Alena Peixoto; Martelli-Junior, Hercílio; Coletta, Ricardo D; Reis, Silvia R A

    2016-11-01

      The aim of this study was to radiographically investigate the prevalence of dental anomalies outside the cleft area in a group of Brazilian patients with nonsyndromic cleft lip and/or palate (NSCL/P).   A retrospective analysis of 207 panoramic radiographs of patients with NSCL/P aged 12 to 45 years without history of tooth extraction and orthodontic treatment was performed.   Dental anomalies were found in 75.4% of the patients, and tooth agenesis (29.2%) and supernumerary tooth (2.6%) were the most common anomalies. The risk of agenesis was higher among the individuals with cleft palate (CP) compared with individuals with cleft lip (CL) and cleft lip and palate (CLP) (agenesis: CP versus CL: odds ratio 6.27, 95% confidence interval 2.21-17.8, P = .0003; CP versus CLP: odds ratio 2.94; 95% confidence interval 1.27-6.81, P = .01). The frequency of dental agenesis was higher in patients with unilateral complete CLP (agenesis: P dental agenesis (P dental anomalies in patients with NSCL/P was higher than that reported in overall population. This study found preferential associations between dental anomalies and specific extensions of NSCL/P, suggesting that dental agenesis and ectopic tooth may be part of oral cleft subphenotypes.

  12. Morphological evaluation of clefts of the lip, palate, or both in dogs.

    Science.gov (United States)

    Peralta, Santiago; Fiani, Nadine; Kan-Rohrer, Kimi H; Verstraete, Frank J M

    2017-08-01

    OBJECTIVE To systematically characterize the morphology of cleft lip, cleft palate, and cleft lip and palate in dogs. ANIMALS 32 client-owned dogs with clefts of the lip (n = 5), palate (23), or both (4) that had undergone a CT or cone-beam CT scan of the head prior to any surgical procedures involving the oral cavity or face. PROCEDURES Dog signalment and skull type were recorded. The anatomic form of each defect was characterized by use of a widely used human oral-cleft classification system on the basis of CT findings and clinical images. Other defect morphological features, including shape, relative size, facial symmetry, and vomer involvement, were also recorded. RESULTS 9 anatomic forms of cleft were identified. Two anatomic forms were identified in the 23 dogs with cleft palate, in which differences in defect shape and size as well as vomer abnormalities were also evident. Seven anatomic forms were observed in 9 dogs with cleft lip or cleft lip and palate, and most of these dogs had incisive bone abnormalities and facial asymmetry. CONCLUSIONS AND CLINICAL RELEVANCE The morphological features of congenitally acquired cleft lip, cleft palate, and cleft lip and palate were complex and varied among dogs. The features identified here may be useful for surgical planning, developing of clinical coding schemes, or informing genetic, embryological, or clinical research into birth defects in dogs and other species.

  13. Cleft Palate; A Multidiscipline Approach.

    Science.gov (United States)

    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;…

  14. Risk factors and comorbidities in Brazilian patients with orofacial clefts

    Directory of Open Access Journals (Sweden)

    Heglayne Pereira Vital da Silva

    2018-04-01

    Full Text Available Abstract: Considering that environmental risk factors substantially contribute to the etiology of orofacial clefts and that knowledge about the characteristics and comorbidities associated with oral clefts is fundamental to promoting better quality of life, this study aimed to describe the risk factors, main characteristics, and comorbidities of a group of patients with cleft lip and/or cleft palate (CL/P from Rio Grande do Norte (RN, Brazil. Data were obtained from 173 patients with CL/P using a form from the Brazilian database on Orofacial Clefts. Most patients were male with cleft lip and palate and had a normal size and weight at birth; presented few neonatal intercurrent events; and had anemia and respiratory and cardiovascular diseases as main associated comorbidities. They also required timely surgical rehabilitation and multidisciplinary care to stimulate their neuropsychomotor development. In addition, a high frequency of familial recurrence and of parental consanguinity was evidenced in the studied population, especially for the cleft lip and cleft palate type. Other relevant findings were the considerable maternal exposure to alcohol, infections, smoking, and hypertension, as well as low supplementation with vitamins and minerals and deliberate consumption of analgesics, antibiotics, and antihypertensives during pregnancy. Characterization of the CL/P patient profile is essential for the planning of health services and integration among the health professionals involved in the diagnosis and treatment of these malformations. Our results reinforce the need for additional research to confirm the association between environmental factors and the development of orofacial clefts.

  15. Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting.

    Science.gov (United States)

    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

  16. Unilateral Cleft Hand with Cleft Foot

    Science.gov (United States)

    Baba, Asif Nazir; Bhat, Yasmeen J.; Ahmed, Sheikh Mushtaq; Nazir, Abid

    2009-01-01

    Congenital anomalies of the hand form an important class of congenital malformations. They have a huge functional importance because of the part played by the hand in the daily activities of a person. The deformities also have significant cosmetic significance and may also be associated with other anomalies. Amongst the congenital anomalies, central deficiency or cleft hand is relatively rare. The association of cleft foot with cleft hand is an even more rare occurance. We present a case report of a 6 year old child, born of a non-consanginous marriage, having congenital central deficiency of ipsilateral hand and foot. PMID:21475543

  17. Oblique lip-alveolar banding in patients with cleft lip and palate.

    Science.gov (United States)

    Naidoo, S; Bütow, K-W

    2015-04-01

    We report an oblique lip-alveolar band, a rare banding of soft tissue that involves the lip and alveolus, which we have found in five patients with cleft lip and palate (0.2%), compared with an incidence of the Simonartz lip-lip band of 5.7%). To our knowledge this has not been reported previously. In two patients the bands affected the cleft lip and alveolus bilaterally, with or without the palatal cleft, and in three the bands were unilateral cleft lip and alveolus with or without the palatal cleft. Copyright © 2015 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  18. [Suture simulator - Cleft palate surgery].

    Science.gov (United States)

    Devinck, F; Riot, S; Qassemyar, A; Belkhou, A; Wolber, A; Martinot Duquennoy, V; Guerreschi, P

    2017-04-01

    Cleft palate requires surgery in the first years of life, furthermore repairing anatomically the soft and hard palate is complex on a surgical level because of the fine tissues and the local intraoral configuration. It is valuable to train first on simulators before going to the operating room. However, there is no material dedicated to learning how to perform intraoral sutures in cleft palate surgery. We made one, in an artisanal manner, in order to practice before the real surgical gesture. The simulator was designed based on precise anatomical data. A steel pipe, fixed on a rigid base represented the oral cavity. An adapted split spoon represented the palate. All pieces could be removed in order to apply a hydrocellular dressing before training for sutures. Our simulator was tested by 3 senior surgeons in our department in close to real-life conditions in order to evaluate its anatomical accuracy. It is valuable to have a simulator to train on cleft palate sutures within teaching university hospitals that manage this pathology. Our simulator has a very low cost, it is easy to make and is anatomically accurate. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

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

    Energy Technology Data Exchange (ETDEWEB)

    Jara, L.; Blanco, R.; Chiffelle, I. [Univ. of Chile, Santiago (Chile)] [and others

    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.

  20. Dental characterization of colombian children with non syndromic cleft lip and palate

    OpenAIRE

    Rengifo Reina, Herney Alonso

    2016-01-01

    Resumen: Introducción: Comparados con la población general, los sujetos con labio y paladar hendido presentan alteraciones en su crecimiento y desarrollo craneofacial y una alta prevalencia de anomalías dentales, que varía según la población estudiada, entre ellas: agenesias, presencia de dientes supernumerarios, morfología coronal anormal y taurodontismo. Objetivo: Evaluar la prevalencia de anomalías dentales encontradas en niños colombianos con secuelas de hendiduras labio palatinas no si...

  1. Ophthalmic changes in cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Luciano Sólia Násser

    2016-04-01

    Full Text Available ABSTRACT The current study aimed to analyze through a literature review evidence of association between ocular changes and non-syndromic cleft lip and/or palate (NSCL/P. A literature review was carried out in accordance with the Cochrane Collaboration Group protocol. PubMed, Scopus, Academic Google and ISI Web of Science databases were systematically searched. A total of 16 studies were accessed, and three made up the final sample.All three studied ocular abnormalities in patients with NSCL/P.The articles found ocular abnormalities in 6.21%, 17.54% and 1.03% of patients respectively.The presence of ocular abnormalities in patients with NSCL/P was significant in this systematic review, but the articles all agreed that future studies should explore the possibility of a greater occurrence of ocular changes in individuals with NSCL/P.

  2. Prevalence of Dental Anomalies in Patients With Nonsyndromic Cleft Lip and/or Palate in a Brazilian Population.

    Science.gov (United States)

    Paranaiba, Lívia Máris Ribeiro; Coletta, Ricardo D; Swerts, Mário Sérgio Oliveira; Quintino, Rafaela Pacífico; de Barros, Letízia Monteiro; Martelli-Júnior, Hercílio

    2013-07-01

    Objective : Many studies have demonstrated a high frequency of dental anomalies in patients with cleft lip and/or palate. Because dental anomalies may complicate dental treatment, we investigated the prevalence of dental anomalies in a group of Brazilian patients with nonsyndromic cleft lip and/or palate. Design, Participants, Setting : Retrospective analysis was performed using clinical records of 296 patients aged between 12 and 30 years with repaired nonsyndromic cleft lip and/or palate without history of tooth extraction and orthodontic treatment. Associations between oral clefts and presence of dental anomalies outside the cleft area were investigated. Results : Dental anomalies were identified in 39.9% of the nonsyndromic cleft lip and/or palate patients, and tooth agenesis (47.5%), impacted tooth (13.1%), and microdontia (12.7%) were the most common anomalies. Cleft lip patients were less affected by dental anomalies compared with cleft palate or cleft lip and palate patients (p  =  .057). Specifically, patients with unilateral cleft lip and palate were significantly more affected by dental anomalies than those with bilateral cleft lip and palate (p  =  .00002), and individuals with unilateral complete cleft lip and palate (p  =  .002) and complete cleft palate (p  =  .01) were significantly more affected by tooth agenesis than other cleft types. Agenesis of the premolars (p  =  .043) and maxillary lateral incisors (p  =  .03) were significantly more frequent in patients with unilateral complete cleft lip and palate. Conclusions : The present study revealed a high frequency of dental anomalies in nonsyndromic cleft lip and/or palate patients and further demonstrated that patients with unilateral cleft lip and palate were frequently more affected by dental anomalies than those with bilateral cleft lip and palate. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning for

  3. Prevalence and Characteristics of Developmental Dental Anomalies in Iranian Orofacial Cleft Patients.

    Science.gov (United States)

    Ajami, Shabnam; Pakshir, Hamidreza; Samady, Hedyeh

    2017-09-01

    Individuals with oral clefts exhibit considerably more dental anomalies than individuals without clefts. These problems could initially be among the symptoms of their disease and/or they may be the side effect of their treatments. Pushback palatoplasty could cause some interference during the development of teeth and result in tooth defects. The study was performed to assess the prevalence and characteristics of developmental dental anomalies in orofacial cleft patients who attended Shiraz Orthodontics Research Center-Cleft Lip and Palate Clinic. We managed to compare dental anomaly traits based on gender and cleft side. Eighty out of 121 cleft patients were included in this cross-sectional study. All the patients used pushback palatoplasty in their palate closure surgeries. Intraoral photographs, panoramic and intraoral radiographs, cone-beam computed tomography (CBCT) and dental and medical histories were examined and recorded by two observers. Data were analyzed using SPSS PC version 20.0. The differences in the side of cleft and dental anomalies were compared using the Mann-Whitney test. The mean age of patients was 14.27 years (SD=5.06). The most frequent cleft type was unilateral cleft lip and palate (50%) followed by bilateral cleft lip and palate (43.75%), cleft palate (2.5%) and cleft lip (1.25%). Male predominance (70%) was observed. 92.5 percent had at least one developmental dental anomaly. The most prevalent anomalies were hypodontia (71.25%) followed by microdontia (30%), root dilacerations (21.25%) and supernumerary teeth (15%). The most prevalent cleft types were unilateral and bilateral cleft lip and palate with male and left side predominance. Hypodontia, microdontia, dilacerations and supernumerary teeth were the most prevalent developmental dental anomalies among Iranian southwestern cleft patients. The surgical technique used to repair their cleft palate may have played a role in developmental dental defects.

  4. Cleft Lip and Palate

    Science.gov (United States)

    ... Cleft Lip or Cleft Palate Print en español Labio leporino y paladar hendido Tilt your head back a bit and look in the mirror. Do you see the way your nose connects to your upper lip? Now open your mouth. Do you see the ...

  5. Cleft lip and palate repair

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/002979.htm Cleft lip and palate repair To use the sharing features on this ... Cheiloplasty; Cleft rhinoplasty; Palatoplasty; Tip rhinoplasty Patient Instructions Cleft lip and palate repair - discharge Images Cleft lip repair - series References ...

  6. Maxillary sinus volumes of patients with unilateral cleft lip and palate.

    Science.gov (United States)

    Erdur, Omer; Ucar, Faruk Izzet; Sekerci, Ahmet Ercan; Celikoglu, Mevlut; Buyuk, Suleyman Kutalmıs

    2015-10-01

    Studies about maxillary sinuses of cleft lip-palate patients have increased since sinusitis is commonly observed in these patients. It is evident that maxillary sinus will be morphologically affected in these patients. And anatomic differences may be a cause or at least a contributor of sinusitis. The aim of this study was to compare maxillary sinus volumes of the non-syndromic patients with unilateral cleft lip-palate and control group by using Cone-Beam computed tomography. Tomography scans of 44 unilateral cleft lip-palate patients (18 right and 26 left) with age and gender matched 45 control patients were evaluated for the study. The images used in the study were part of the diagnostic records collected due to dental treatment needs. All tomographs were obtained in supine position by using Cone-Beam computed tomography (NewTom 5G, QR, Verona, Italy). The patient-specific Hounsfield values were set to include the largest amount of voxels in the sinuses volume calculation individually. All data were measured in mm(3). There was no statistically difference between the gender and age distributions of the groups. No statistically significant difference was found on the cleft and non-cleft side, the right and left side of the unilateral cleft lip-palate patients and the control group (P>0.05). For the inter group comparison, mean maxillary sinus volumes volume of unilateral cleft lip-palate patients (9894.55±4171.44mm(3)) was statistically smaller than the control group (11,977.90±4484.93mm(3)) (Pcleft lip-palate patients when compared with the healthy control group. No difference was found on the cleft, non-cleft side and the right-left side of the unilateral cleft lip-palate patients. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  7. Patterns of Cleft Lip and Cleft Palate in Northern Pakistan

    Directory of Open Access Journals (Sweden)

    Mansoor Khan

    2012-04-01

    Results: A total of 159 patients of cleft lip and cleft palate deformities were included in the study, having a mean age of 3.5+6.59 years and containing 59.1% males and 40.9% females with a ratio of 1.4:1. A cleft lip with palate, cleft palate and cleft lip were found in 51.6%, 31.4% and 17% of cases, respectively. Left-sided clefts were most common in the cleft lip with palate and the isolated cleft lip deformity. A cleft lip with palate was a male dominant variety (62.8% of cases, while in the cleft palate variety, the dominant gender was female. In 61.6% of cases, the parent had a consanguineous relationship. In 21.4% of cases, family history was positive for the cleft lip/palate. Other congenital anomalies were associated in 10.7% of cases. Conclusion: Cleft deformities of the lip and palate affect the male population more than females with cleft lips, in association with a cleft palate being the most common anomaly. Females are mainly affected by an isolated cleft palate. The high prevalence of these deformities in consanguineous marriages emphasizes educating people. The lower number of patients from distant distracts of Northern Pakistan calls for the attention of the health department. [Arch Clin Exp Surg 2012; 1(2.000: 63-70

  8. 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

    Science.gov (United States)

    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…

  9. Short-term effect of short, intensive speech therapy on articulation and resonance in Ugandan patients with cleft (lip and) palate

    NARCIS (Netherlands)

    Anke Luyten; H. Vermeersch; A. Hodges; K. Bettens; K. van Lierde; G. Galiwango

    2016-01-01

    Objectives: The purpose of the current study was to assess the short-term effectiveness of short and intensive speech therapy provided to patients with cleft (lip and) palate (C(L)P) in terms of articulation and resonance. Methods: Five Ugandan patients (age: 7.3-19.6 years) with non-syndromic C(L)P

  10. Non-Syndromic Oligodontia in permanent dentition: A case report ...

    African Journals Online (AJOL)

    of a syndrome. The present case report highlights a unique case of non syndromic oligodontia, with agenesis of four permanent incisors, left permanent canine and right second premolar in the mandibular arch and its management with a novel fixed functional prosthetic appliance. Prosthetic rehabilitation is an urgent need ...

  11. Feeding interventions for growth and development in infants with cleft lip, cleft palate or cleft lip and palate.

    Science.gov (United States)

    Bessell, Alyson; Hooper, Lee; Shaw, William C; Reilly, Sheena; Reid, Julie; Glenny, Anne-Marie

    2011-02-16

    Cleft lip and cleft palate are common birth defects, affecting about one baby of every 700 born. Feeding these babies is an immediate concern and there is evidence of delay in growth of children with a cleft as compared to those without clefting. In an effort to combat reduced weight for height, a variety of advice and devices are recommended to aid feeding of babies with clefts. This review aims to assess the effects of these feeding interventions in babies with cleft lip and/or palate on growth, development and parental satisfaction. The following electronic databases were searched: the Cochrane Oral Health Group Trials Register (to 27 October 2010), the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2010, Issue 4), MEDLINE via OVID (1950 to 27 October 2010), EMBASE via OVID (1980 to 27 October 2010), PsycINFO via OVID (1950 to 27 October 2010) and CINAHL via EBSCO (1980 to 27 October 2010). Attempts were made to identify both unpublished and ongoing studies. There was no restriction with regard to language of publication. Studies were included if they were randomised controlled trials (RCTs) of feeding interventions for babies born with cleft lip, cleft palate or cleft lip and palate up to the age of 6 months (from term). Studies were assessed for relevance independently and in duplicate. All studies meeting the inclusion criteria were data extracted and assessed for validity independently by each member of the review team. Authors were contacted for clarification or missing information whenever possible. Five RCTs with a total of 292 babies, were included in the review. Comparisons made within the RCTs were squeezable versus rigid feeding bottles (two studies), breastfeeding versus spoon-feeding (one study) and maxillary plate versus no plate (two studies). No statistically significant differences were shown for any of the primary outcomes when comparing bottle types, although squeezable bottles were less likely to require

  12. Skull thickness in patients with clefts

    DEFF Research Database (Denmark)

    Arntsen, T; Kjaer, I; Sonnesen, L

    2010-01-01

    The purpose was to analyze skull thickness in incomplete cleft lip (CL), cleft palate (CP), and combined cleft lip and palate (UCLP).......The purpose was to analyze skull thickness in incomplete cleft lip (CL), cleft palate (CP), and combined cleft lip and palate (UCLP)....

  13. Ankyloglossia with cleft lip: A rare case report

    Science.gov (United States)

    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

  14. Ankyloglossia with cleft lip: A rare case report

    Directory of Open Access Journals (Sweden)

    Kritika Jangid

    2015-01-01

    Full Text Available 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.

  15. Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate

    DEFF Research Database (Denmark)

    Lohmander, Anette; Persson, Christina; Willadsen, Elisabeth

    2017-01-01

    BACKGROUND AND AIM: Adequate velopharyngeal function and speech are main goals in the treatment of cleft palate. The objective was to investigate if there were differences in velopharyngeal competency (VPC) and hypernasality at age 5 years in children with unilateral cleft lip and palate (UCLP...... cleft teams in five countries: Denmark, Finland, Sweden, Norway, and the UK. METHODS: Three different surgical protocols for primary palatal repair were tested against a common procedure in the total cohort of 448 children born with a non-syndromic UCLP. Speech audio and video recordings of 391 children......) operated on with different surgical methods for primary palatal repair. A secondary aim was to estimate burden of care in terms of received additional secondary surgeries and speech therapy. DESIGN: Three parallel group, randomised clinical trials were undertaken as an international multicentre study by 10...

  16. Maternal and paternal age, birth order and interpregnancy interval evaluation for cleft lip-palate.

    Science.gov (United States)

    Martelli, Daniella Reis Barbosa; Cruz, Kaliany Wanessa da; Barros, Letízia Monteiro de; Silveira, Marise Fernandes; Swerts, Mário Sérgio Oliveira; Martelli Júnior, Hercílio

    2010-01-01

    Cleft lip and palate (CL/P) are the most common congenital craniofacial anomalies. To evaluate environmental risk factors for non-syndromic CL/P in a reference care center in Minas Gerais. we carried out a case-controlled study, assessing 100 children with clefts and 100 children without clinical alterations. The analysis dimensions (age, skin color, gender, fissure classification, maternal and paternal age, birth order and interpregnancy interval), obtained from a questionnaire; and later we build a data base and the analyses were carried out by the SPSS 17.0 software. The results were analyzed with the relative risk for each variable, in order to estimate the odds ratio with a 95% confidence interval, followed by a bivariate and multivariate analysis. among 200 children, 54% were males and 46% were females. As far as skin color is concerned most were brown, white and black, respectively. Cleft palates were the most common fissures found (54%), followed by lip cleft (30%) and palate cleft (16%). although with a limited sample, we noticed an association between maternal age and an increased risk for cleft lip and palate; however, paternal age, pregnancy order and interpregnancy interval were not significant.

  17. Esthetic evaluation of the facial profile in rehabilitated adults with complete bilateral cleft lip and palate.

    Science.gov (United States)

    Ferrari Júnior, Flávio Mauro; Ayub, Priscila Vaz; Capelozza Filho, Leopoldino; Pereira Lauris, José Roberto; Garib, Daniela Gamba

    2015-01-01

    To assess the facial esthetics of patients with complete bilateral cleft lip and palate, and to compare the judgment of raters related and unrelated to cleft care. The sample comprised 23 adult patients (7 women and 16 men) with a mean age of 26.1 years, rehabilitated at a single center. Standardized photographs of the right and left facial profile were taken of each patient and subjectively evaluated by 25 examiners: 5 orthodontists and 5 plastic surgeons with expertise in oral cleft rehabilitation, 5 orthodontists and 5 plastic surgeons without expertise in oral cleft rehabilitation, and 5 laypersons. The facial profiles were classified into 3 categories: esthetically unpleasant, esthetically acceptable, and esthetically pleasant. Intraexaminer and interexaminer agreements were evaluated with the Spearman correlation coefficient and Kendall coefficient of concordance. The differences between rater categories were analyzed using the Student-Newman-Keuls test (with P esthetically acceptable. Orthodontists and plastic surgeons related to oral cleft rehabilitation gave the best scores to the facial profiles, followed by layperson examiners and by orthodontists and plastic surgeons unrelated to oral cleft rehabilitation. The middle third of the face, the nose, and the upper lip were frequently pointed out as contributors to the esthetic impairment. The facial profile of rehabilitated adult patients with complete bilateral cleft lip and palate was considered esthetically acceptable because of morphologic limitations in the structures affected by the cleft. Laypersons and professionals unrelated to oral cleft rehabilitation seem to be more critical regarding facial esthetics than professionals involved with cleft rehabilitation. Copyright © 2015. Published by Elsevier Inc.

  18. Presurgical Nasal Molding With a Nasal Spring in Patients With Mild-to-Moderate Nasal Deformity With Incomplete Unilateral Cleft Lip With or Without Cleft Palate.

    Science.gov (United States)

    Peanchitlertkajorn, Supakit

    2018-01-01

    Traditional nasoalveolar molding (NAM) requires steep learning curve for clinicians and significant compliance from parents. Nasal springs have been developed by the author to simplify presurgical nasal molding. This article presents the design, construction, and application of the spring. The treatment goal is to improve nasal deformity prior to primary repair in infants born with incomplete unilateral cleft lip with or without cleft palate. The design, fabrication, and utility of the nasal spring are described. The spring has a simpler design and construction compared to a traditional NAM appliance. Two patients with incomplete unilateral cleft lip with and without cleft palate are presented. The spring is constructed and delivered. The active arm of the spring can be 3-dimensionally (3-D) adjusted to mold the alar cartilage of the affected nostril. The spring does not require an oral plate for adherence as a traditional NAM appliance does, hence an oral impression is not needed. The spring is easy for clinicians to adjust. It also requires less compliance by parents. Main Outcome Measures/Results: The presurgical molding achieved by the use of a nasal spring improved surgical nasolabial aesthetic outcomes. The nasal springs are effective in reducing the initial cleft nasal deformity. This facilitates primary surgical cleft lip and nose correction and improves surgical outcomes in patients with incomplete unilateral cleft lip with or without cleft palate.

  19. Cleft Lip and Palate Surgery

    Science.gov (United States)

    ... The experts in face, mouth and jaw surgery. Cleft Lip / Palate and Craniofacial Surgery This type of surgery is ... the carefully orchestrated, multiple-stage correctional program for cleft lip and palate patients. The goal is to help restore the ...

  20. Hypertelorism and orofacial clefting revisited

    DEFF Research Database (Denmark)

    Weinberg, Seth M.; Leslie, Elizabeth J.; Hecht, Jacqueline T.

    2017-01-01

    Objective: Since the 1960s, multiple studies have reported a tendency toward hypertelorism in individuals with nonsyndromic orofacial clefts (OFCs). However, the association between specific cleft types and increased interorbital distance has been inconsistent. Using threedimensional (3D) surface...

  1. Fixed prosthetic treatment in patients with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Bajevska Jagoda

    2017-01-01

    Full Text Available Introduction. The prosthetic treatment of patients with cleft palate includes various treatment options such as fixed partial dentures, removable partial prosthesis, etc. The type of prosthetic appliance is determined by the oral health of each individual and the circumstances. We presented three adult patients with the cleft lip and palate subjected to prosthetic treatment. Case report. From the possible prosthetic solutions according to the conditions in the oral cavity and the circumstances, fixed partial dentures veneered with composite or ceramic were chosen. A proper relationship between the teeth was reached with the fixed partial dentures, and function established, the phonetics improved and satisfying aesthetics effect accomplished improving the profile appearance of the patient’s face. Plastic surgery of the nose was performed after that. Conclusion. Multidisclipinary treatment is necessary for favourable long-term outcome in cleft lip and palate patients.

  2. Multiple Supernumerary Teeth in a Non-Syndromic Patient: A Case Report

    Directory of Open Access Journals (Sweden)

    Majid Eshgh Pour

    2013-01-01

    Full Text Available Introduction: Multiple supernumerary teeth are a rare phenomenon. It occurs more often in patients with syndromes such as Gardner's syndrome, cleidocranial dysplasia and so on. This phenomenon in absence of such syndromes is rare. The purpose of this report was to introduce a case of non-syndromic multiple supernumerary impacted teeth.Case Report: A 29-year-old woman with no skeletal, metabolic, systemic and mental disorder was referred to oral and maxillofacial department of Mashhad dental school. In clinical evaluation, seven Permanent teeth were missing. In radiographic evaluation, there were a total of 15 impacted teeth which 7 of them were supernumerary.Conclusion: Missing or Excess of one or more teeth usually leads to occlusal and functional problems. In these cases, a complete clinical and radiographic examination accompanieal by a precise history should be performed to plan a suitable surgical-orthodontic-prosthetic treatment.

  3. Chemical exposure during pregnancy and oral clefts in newborns Exposição a agentes químicos na gravidez e fendas lábio-palatinas no recém-nascido

    Directory of Open Access Journals (Sweden)

    Isabel Cristina Gonçalves Leite

    2002-02-01

    Full Text Available This article presents a literature review on the risk factors for oral clefts (lip and/or palate, emphasizing discussion of maternal exposure to endocrine disruptors. Several studies have identified the risk of cigarette smoking and alcohol consumption, use of anticonvulsivant drugs, and exposure to organic solvents. A protective effect has been shown for supplementation with folic acid. As with other chemicals, the risk associated with exposure to sex hormones is still obscure, although some authors describe a moderate risk level. New studies addressing this hypothesis need to be conducted, while the population exposed to these endocrine disrupters is increasing.O presente artigo apresenta uma revisão bibliográfica sobre os fatores de risco para a ocorrência de fendas lábio-palatinas descritos na literatura, destacando a discussão sobre a exposição hormonal materna durante a gravidez. Os trabalhos analisados apontam como fatores de risco o tabagismo e a ingestão de álcool, uso de anticonvulsivantes e exposições a solventes orgânicos, e como fator de proteção, a administração de ácido fólico. O risco associado à exposição hormonal, bem como a outros fatores, ainda é obscuro, embora alguns autores descrevam moderadas magnitudes de risco. Novos estudos, especificamente elaborados para testar esta hipótese, devem ser realizados à medida em que aumenta a população exposta a drogas de ação endócrina.

  4. Branchial Cleft Cyst

    Science.gov (United States)

    Nahata, Vaishali

    2016-01-01

    Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity. PMID:27904209

  5. Branchial cleft cyst

    Directory of Open Access Journals (Sweden)

    Vaishali Nahata

    2016-01-01

    Full Text Available Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity.

  6. Branchial Cleft Cyst.

    Science.gov (United States)

    Nahata, Vaishali

    2016-01-01

    Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity.

  7. Cleft lip and Palate: A 30-year Epidemiologic Study in North-East of Iran

    Directory of Open Access Journals (Sweden)

    Hamid Reza Kianifar

    2015-01-01

    Full Text Available Introduction: Cleft lip and palate are among the most common congenital anomalies worldwide. This study was conducted in order to explore the incidence and related factors of cleft lip and/or palate (CL/P among live births in Mashhad, North-Eastern Iran.   Materials and Methods: In this cross-sectional study, records of 28,519 infants born between March 1982 and March 2011 at three major hospitals in Mashhad were screened for oral clefts. Clinical and demographic factors relating to diagnosed cases, including birth date, gender, birth weight, maternal age, number of pregnancies, type and side of cleft and presence of other congenital anomalies were recorded for analysis.   Results: The overall incidence of CL/P was 1.9 per 1,000 live births. Cleft lip associated with cleft palate (CLP was the most prevalent type of cleft (50%, followed by isolated cleft lip         (35.2% and isolated cleft palate (14.8%. A total of 92.6% of oral clefts were bilateral and 5.5% were located on the right side. In addition, clefts were found to be more common in male than female births (male/female ratio=2.3. The rate of associated congenital anomalies in CL/P newborns was 37%. No significant differences were observed in the incidence of oral clefts across three decades of study; except for CLP which was significantly more prevalent between 2002–2011 (P=0.027. There were no significant differences with regard to season of birth, associated anomalies or maternal age of affected newborns in the three time periods of the study. Furthermore, maternal age and number of pregnancies were not significantly different among the three types of cleft (P=0.43 and P=0.91, respectively. Although the mean birth weight of patients affected with isolated cleft palate was considerably lower than that of the other two types of cleft, the difference was not statistically significant (P=0.05.    Conclusion:  This study indicates a frequency of CL/P close to the findings

  8. Head, Neck, and Oral Cancer

    Medline Plus

    Full Text Available ... We Do Who We Are News Videos Contact Find a Surgeon What We Do Anesthesia Anesthesia Oral ... of sedation and general anesthesia. Click here to find out more. Cleft Lip/Palate and Craniofacial Surgery ...

  9. The comparative study of resonance disorders for Vietnamese and Korean cleft palate speakers using nasometer.

    Science.gov (United States)

    Shin, Yu-Jeong; Kim, Yongsoo; Kim, Hyun-Gi

    2017-12-01

    Nasalance is used to evaluate the velopharyngeal incompetence in clinical diagnoses using a nasometer. The aim of this study is to find the nasalance differences between Vietnamese cleft palate children and Korean cleft palate children by measuring the nasalance of five oral vowels. Ten Vietnamese cleft palate children after surgery, three Vietnamese children for the control group, and ten Korean cleft palate children after surgery with the same age participated in this experimentation. Instead of Korean control, the standard value of Korean version of the simplified nasometric assessment procedures (kSNAP) was used. The results are as follows: (1) the highest nasalance score among the Vietnamese normal vowels is the low vowel /a/; however, that of Korean normal vowels is the high vowel /i/. (2) The average nasalance score of Korean cleft palate vowels is 18% higher than that of Vietnamese cleft palate vowels. There was a nasalance score of over 45% among the vowels /e/ and /i/ in Vietnamese cleft palate patients and /i/, /o/, and /u/ in Korean cleft palate patients. These different nasalance scores of the same vowels seem to cause an ethnic difference between Vietnamese and Korean cleft palate children.

  10. Cleft Lip and Palate

    Science.gov (United States)

    ... from surgery, coping with speech problems, or improving self-esteem. Some teens join support groups or online forums where they can talk to other people who were born with cleft lip or palate. Reviewed by: Rupal Christine Gupta, MD Date reviewed: ...

  11. Influence of different palate repair protocols on facial growth in unilateral complete cleft lip and palate.

    Science.gov (United States)

    Xu, Xue; Kwon, Hyuk-Jae; Shi, Bing; Zheng, Qian; Yin, Heng; Li, Chenghao

    2015-01-01

    To address the question of whether one- or two-stage palatal treatment protocol has fewer detrimental effects on craniofacial growth in patients aged 5 years with unilateral complete cleft lip and palate. Forty patients with non-syndromic unilateral complete cleft lip and palate (UCCLPs) who had received primary cleft lip repair at age 6-12 months and cleft palate repair at age 18-30 months were selected in this study. Eighteen UCCLP patients who received two-stage palate repair were selected as group 1, and 22 UCCLP patients who received one-stage palate repair were selected as group 2. The control group consisted of 20 patients with unilateral incomplete cleft lip (UICL patients) whose age and gender matched with UCCLP patients. A one-sample Kolmogorov-Smirnov test was used to analyze the nature of data distribution. Bonferroni test and Kruskal-Wallis H tests were used for multiple comparisons. Both case groups showed reduced maxillary sagittal length (ANS-PMP, A-PM, p palate repair had a reduced posterior maxillary vertical height (R-PMP, p palate repair. Vomer flap repair inhibited maxilla vertical growth. Delayed hard palate repair showed less detrimental effects on maxillary growth compared to early hard palate repair in UCCLP patients aged 5 years. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  12. Genetics of syndromic and non-syndromic mitral valve prolapse.

    Science.gov (United States)

    Le Tourneau, Thierry; Mérot, Jean; Rimbert, Antoine; Le Scouarnec, Solena; Probst, Vincent; Le Marec, Hervé; Levine, Robert A; Schott, Jean-Jacques

    2018-01-19

    Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP. While FED is still considered a degenerative disease associated with ageing, frequent familial clustering has been demonstrated for myxomatous MVP. Familial and genetic studies led to the recognition of reduced penetrance and large phenotypic variability, and to the identification of prodromal or atypical forms as a part of the complex spectrum of the disease. Whereas autosomal dominant mode is the common inheritance pattern, an X linked form of non-syndromic MVP was recognised initially, related to Filamin-A gene, encoding for a cytoskeleton protein involved in mechanotransduction. This identification allowed a comprehensive description of a new subtype of MVP with a unique association of leaflet prolapse and paradoxical restricted motion in diastole. In autosomal dominant forms, three loci have been mapped to chromosomes 16p11-p12, 11p15.4 and 13q31-32. Although deciphering the underlying genetic defects is still a work in progress, DCHS1 mutations have been identified (11p15.4) in typical myxomatous disease, highlighting new molecular pathways and pathophysiological mechanisms leading to the development of MVP. Finally, a large international genome-wide association study demonstrated the implication of frequent variants in MVP development and opened new directions for future research. Hence, this review focuses on phenotypic, genetic and pathophysiological aspects of MVP. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  13. Branchial cleft anomalies: CT evaluation

    Energy Technology Data Exchange (ETDEWEB)

    Seok, Eul Hye; Park, Chan Sup [College of Medicine, Inha University, Seongnam (Korea, Republic of)

    1994-04-15

    The purpose of this paper is to describe the CT findings of a variety of branchial cleft anomalies in the head and neck area. We reviewed the CT findings of 16 patients with neck lesion pathologically proved as branchial cleft anomalies. There were two first and 12 second branchial cleft cysts, one first and one second branchial cleft sinuses. Two cases of first branchial cleft cysts were manifested as thin-walled, cystic masses at auricular area. One first branchial cleft sinus was an external opening type and manifested as an ill-defined, enhancing solid lesion at posterior auricular area. All 12 cases of second branchial cleft cysts demonstrated a typical location, displacing the sternocleidomastoid muscle posteriorly, the carotid artery and internal jugular vein complex medially and the submandibular gland anteriorly. Eight cases of second branchial cleft cysts were seen as fluid-filled, round or ovoid-shaped cysts, and 3 cases of them were seen as irregular-shaped cysts. In one case, suppurative adenopathy with loss of soft tissue planes around the cyst was observed. One case of second branchial cleft sinus was manifested as a tubular-shaped, enhancing lesion at submental area and containing external opening site draining into the anterior border of the sternocleidomastoid muscle. We conclude that CT provides important diagnostic and therapeutic information in patients with a neck mass believed to be a branchial cleft anomaly, as it can differentiate various forms of the branchial anomalies by their characteristic location and shape.

  14. Branchial cleft anomalies: CT evaluation

    International Nuclear Information System (INIS)

    Seok, Eul Hye; Park, Chan Sup

    1994-01-01

    The purpose of this paper is to describe the CT findings of a variety of branchial cleft anomalies in the head and neck area. We reviewed the CT findings of 16 patients with neck lesion pathologically proved as branchial cleft anomalies. There were two first and 12 second branchial cleft cysts, one first and one second branchial cleft sinuses. Two cases of first branchial cleft cysts were manifested as thin-walled, cystic masses at auricular area. One first branchial cleft sinus was an external opening type and manifested as an ill-defined, enhancing solid lesion at posterior auricular area. All 12 cases of second branchial cleft cysts demonstrated a typical location, displacing the sternocleidomastoid muscle posteriorly, the carotid artery and internal jugular vein complex medially and the submandibular gland anteriorly. Eight cases of second branchial cleft cysts were seen as fluid-filled, round or ovoid-shaped cysts, and 3 cases of them were seen as irregular-shaped cysts. In one case, suppurative adenopathy with loss of soft tissue planes around the cyst was observed. One case of second branchial cleft sinus was manifested as a tubular-shaped, enhancing lesion at submental area and containing external opening site draining into the anterior border of the sternocleidomastoid muscle. We conclude that CT provides important diagnostic and therapeutic information in patients with a neck mass believed to be a branchial cleft anomaly, as it can differentiate various forms of the branchial anomalies by their characteristic location and shape

  15. Psychological issues in cleft lip and cleft palate

    Directory of Open Access Journals (Sweden)

    Sousa Avinash

    2009-01-01

    Full Text Available Vocational and social issues affect rehabilitation and development of patients with cleft lip and cleft palate. However, psychological problems like lowered self esteem and difficulties in social interaction have also been noted in them. Not many pediatric reconstructive surgery teams have a psychiatrist on their panel. It is likely that psychological problems are higher in incidence than literature actually suggests. Hence it is very essential that such cases are identified by the surgical team to maximize positive outcome of surgery and rehabilitation. This study discusses psychological issues revolving around cleft lip and cleft palate along with lacunae in many psychological research studies.

  16. Contemporary management of cleft lip and palate in the United Kingdom. Have we reached the turning point?

    Science.gov (United States)

    Colbert, S D; Green, Ben; Brennan, P A; Mercer, N

    2015-09-01

    Babies born with clefts of the lip, and the alveolus or palate, or both, require multidisciplinary, highly specialised treatment from birth to early adulthood. We review the contemporary management of clefts and outline the current treatment protocol adopted by cleft networks in the United Kingdom. We also look at the level of evidence and the restructuring of services that has defined current practice. In light of the recent Cleft Care UK study, we ask whether it is now time to adopt a new philosophy towards the surgical techniques that are used. Copyright © 2015 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  17. Addressing the challenges of cleft lip and palate research in India

    Directory of Open Access Journals (Sweden)

    Mossey Peter

    2009-10-01

    Full Text Available The Indian sub-continent remains one of the most populous areas of the world with an estimated population of 1.1 billion in India alone. This yields an estimated 24.5 million births per year and the birth prevalence of clefts is somewhere between 27,000 and 33,000 clefts per year. Inequalities exist, both in access to and quality of cleft care with distinct differences in urban versus rural access and over the years the accumulation of unrepaired clefts of the lip and palate make this a significant health care problem in India. In recent years the situation has been significantly improved through the intervention of Non Governmental Organisations such as SmileTrain and Transforming Faces Worldwide participating in primary surgical repair programmes. The cause of clefts is multi factorial with both genetic and environmental input and intensive research efforts have yielded significant advances in recent years facilitated by molecular technologies in the genetic field. India has tremendous potential to contribute by virtue of improving research expertise and a population that has genetic, cultural and socio-economic diversity. In 2008, the World Health Organisation (WHO has recognised that non-communicable diseases, including birth defects cause significant infant mortality and childhood morbidity and have included cleft lip and palate in their Global Burden of Disease (GBD initiative. This will fuel the interest of India in birth defects registration and international efforts aimed at improving quality of care and ultimately prevention of non-syndromic clefts of the lip and palate.

  18. Maxillary dental anomalies in patients with cleft lip and palate: a cone beam computed tomography study.

    Science.gov (United States)

    Celikoglu, M; Buyuk, S K; Sekerci, A E; Cantekin, K; Candirli, C

    2015-01-01

    To compare the frequency of maxillary dental anomalies in patients affected by unilateral (UCLP) and bilateral (BCLP) cleft lip with palate and to determine whether statistical differences were present or not between cleft and normal sides in UCLP group by using cone beam computed tomography (CBCT). In addition, the frequency of those dental anomalies was compared with previous studies presenting the same population without cleft Study Design: Fifty non-syndromic patients affected by UCLP (28 patients) and BCLP (22 patients) were selected for analysis of dental anomalies by means of CBCT. The frequency of maxillary dental anomalies including tooth agenesis, microdontia of lateral incisor, ectopic eruption and impaction of canine and supernumerary tooth were examined. Pearson chi-square and Fisher's exact tests were performed for statistical comparisons. All patients affected by UCLP and BCLP were found to have at least one maxillary dental anomaly. The most frequently observed dental anomaly was tooth agenesis (92.5% and 86.4%, respectively) in UCLP and BCLP groups. Tooth agenesis and canine impaction were observed more commonly in the cleft side (75.0% and 35.7%, respectively) than in the normal side (57.1% and 14.3%, respectively) in UCLP group (p≯0.05). All dental anomalies were found to be higher in both cleft groups than in general populations not affected by cleft. Since patients affected by UCLP and BCLP had at least one dental anomaly and higher dental anomaly frequency as compared to patients without cleft, those patients should be examined carefully prior to orthodontic treatment.

  19. Schizencephaly/congenital cerebral clefts

    International Nuclear Information System (INIS)

    Friedman, H.; Naidich, T.P.

    1987-01-01

    Schizencephaly (from the Greek meaning ''split brain''), is a term developed in the 1940s to explain symmetric clefts in the brain seen at autopsy in children with histories of severe neurologic defects. Use of the term has been expanded to include a variety of cerebral clefts. A review of the experience at Children's Memorial Hospital as well as case materials made available to the authors are presented, including CT, MR imaging, and US findings. Theories of etiology and pathogenesis of these congenital clefts, associated anomalies, and the spectrum of appearance of these clefts are discussed

  20. Branchial Cleft Anomalies

    Science.gov (United States)

    McPhail, Neil; Mustard, Robert A.

    1966-01-01

    The embryology, anatomy and pathology of branchial cleft anomalies are discussed and 87 cases reviewed. The most frequent anomaly was branchial cleft cyst, of which there were 77 cases. Treatment in all cases consisted of complete excision. There were five cases of external branchial sinus and five cases of complete branchial fistula. Sinograms were helpful in demonstrating these lesions. Excision presented little difficulty. No proved case of branchiogenic carcinoma has been found in the Toronto General Hospital. Five cases are described in which the original diagnosis was branchiogenic carcinoma—in four of these a primary tumour has already been found. The authors believe that the diagnosis of branchiogenic carcinoma should never be accepted until repeated examinations over a period of at least five years have failed to reveal a primary tumour. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5 PMID:5901161

  1. Branchial Cleft Cyst

    OpenAIRE

    Nahata, Vaishali

    2016-01-01

    Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which wa...

  2. Clefting in pumpkin balloons

    Science.gov (United States)

    Baginski, F.; Schur, W.

    NASA's effort to develop a large payload, high altitude, long duration balloon, the Ultra Long Duration Balloon, focuses on a pumpkin shape super-pressure design. It has been observed that a pumpkin balloon may be unable to pressurize into the desired cyclically symmetric equilibrium configuration, settling into a distorted, undesired stable state instead. Hoop stress considerations in the pumpkin design leads to choosing the lowest possible bulge radius, while robust deployment is favored by a large bulge radius. Some qualitative understanding of design aspects on undesired equilibria in pumpkin balloons has been obtained via small-scale balloon testing. Poorly deploying balloons have clefts, but most gores away from the cleft deploy uniformly. In this paper, we present models for pumpkin balloons with clefts. Long term success of the pumpkin balloon for NASA requires a thorough understanding of the phenomenon of multiple stable equilibria and means for quantitative assessment of measures that prevent their occurrence. This paper attempts to determine numerical thresholds of design parameters that distinguish between properly deploying designs and improperly deploying designs by analytically investigating designs in the vicinity of criticality. Design elements which may trigger the onset undesired equilibria and remedial measures that ensure deployment are discussed.

  3. MRI findings of fetal cleft lip and palate

    International Nuclear Information System (INIS)

    Wang Guangbin; Chen Liguang; Zhu Xiangyu; Wang Cuiyan; Zhang Yinghua; Wang Liajuan; Li Huihua; Qiu Xiuling; Qu Lei; Wei Yulong; Ding Rui; Sun Xueqin

    2010-01-01

    Objective: To investigate the MR findings of fetal cleft lip (CL) and evaluate the advantages and limitations of MRI in the diagnosis. Methods: Twelve pregnant women suspicious of fetal CL/cleft palate (CP) on ultrasonography were enrolled in the study. The findings of ultrasonography, MRI and following-up were compared. Results: MRI and ultrasonography detected 12 fetuses with CL/CP. The following-up results showed 1 case with incomplete cleft lip and the other 11 cases with complete cleft lips and cleft palates. MRI and unltrasonography were consistent with the follow-up in CL detection, showing completed or uncompleted soft tissue interruption of the fetal lips with amniotic fluid filling which is high signal on T 2 WI. On MRI, CP showed discontinuous of the soft tissue which were interrupted by long T 2 signal and communicating with oral cavity ad nasal cavity. MRI missed 1 case and excluded 1 case of CP. Ultrasonography predicted 5 case of CL, excluded 1 CP but missed 6 cases. The accuracy, sensitivity and specificity in detection CL/CP was 91.7% (11/12), 90.9% (10/11), 100% (1/1) for MRI and 50.0% (6/12), 45.5% (5/11), 100% (1/1) for ultrasonography, respectively. Conclusion: MR imaging had advantage over ultrasonography in detecting CP, MRI is an essential when CP is suspicious on ultrasonography. (authors)

  4. Primary dentition status and treatment needs of children with cleft lip and/or palate

    Directory of Open Access Journals (Sweden)

    Ankola Anil

    2005-06-01

    Full Text Available The aim of this study was to assess the primary dentition status and treatment needs in children with cleft lip, cleft palate and or both. A descriptive, cross-sectional study was done through oral examination on a sample of 83, 2-5 years old cleft lip/palate children (46 boys and 37 girls. A self-designed questionnaire to obtain pertinent data related to level of education of parents and infant-feeding practices was used for recording the data while examining the children. Majority of cleft affected children had dental caries experience and required different types of treatment. The result of this study shows that: (1 all age groups of cleft affected children had dental caries experience, (2 children with primary type of cleft had less dental caries prevalence than children with cleft of secondary or combination type ( P < 0.05, (3 treatment needs due to caries were more in combination type of cleft compared to primary and secondary.

  5. 3D-Printed Models of Cleft Lip and Palate for Surgical Training and Patient Education.

    Science.gov (United States)

    Chou, Pang-Yun; Hallac, Rami R; Shih, Ellen; Trieu, Jenny; Penumatcha, Anjani; Das, Priyanka; Meyer, Clark A; Seaward, James R; Kane, Alex A

    2018-03-01

    Sculpted physical models and castings of the anatomy of cleft lip and palate are used for parent, patient, and trainee education of cleft lip and palate conditions. In this study, we designed a suite of digital 3-dimensional (3D) models of cleft lip and palate anatomy with additive manufacturing techniques for patient education. CT scans of subjects with isolated cleft palate, unilateral and bilateral cleft lip and palate, and a control were obtained. Soft tissue and bony structures were segmented and reconstructed into digital 3D models. The oral soft tissues overlying the cleft palate were manually molded with silicone putty and scanned using CT to create digital 3D models. These were then combined with the original model to integrate with segmentable soft tissues. Bone and soft tissues were 3D printed in different materials to mimic the rigidity/softness of the relevant anatomy. These models were presented to the parents/patients at our craniofacial clinic. Visual analog scale (VAS) surveys were obtained pertaining to the particular use of the models, to ascertain their value in parental education. A total of 30 parents of children with cleft conditions completed VAS evaluations. The models provided the parents with a better understanding of their child's condition with an overall evaluation score of 9.35 ± 0.5. We introduce a suite of 3D-printed models of cleft conditions that has a useful role in patient, parental, and allied health education with highly positive feedback.

  6. Surgically repaired cleft lips depicted in paintings of the late Gothic period and the Renaissance.

    Science.gov (United States)

    Pirsig, W; Haase, S; Palm, F

    2001-04-01

    Paintings and drawings by Lucas Moser, Leonardo da Vinci, Albrecht Dürer, and Jacob Cornelisz van Oostsanen suggest that they employed people who had had cleft lips operated on as models for their works of art. Created between 1431 and 1520, the portraits show diagnostic facial profiles with a curved nasal dorsum, short columella, maxillary retrusion, and pseudoprogenia. The first medical illustration of cleft lip surgery was published in 1564 by Ambroise Paré. It was therefore late Gothic and Renaissance artists who depicted the conspicuous signs of surgically treated patients with cleft lip more than 130 years before the surgeons. Copyright 2001 The British Association of Oral and Maxillofacial Surgeons.

  7. Asyndromic Bilateral Transverse Facial Cleft

    African Journals Online (AJOL)

    2013-04-23

    of this atypical cleft is unknown although the frequency ... on Tuesday, April 23, 2013, IP: 41.132.185.55] || Click here to download free Android application for this journal ... Facial cleft remains a source of social anxiety and in the past has lead ...

  8. Genetic determinants of facial clefting

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Shi, Min; Gjessing, Håkon Kristian

    2009-01-01

    BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark...

  9. Fissuras orais e sua notificação no sistema de informação: análise da Declaração de Nascido Vivo (DNV em Campos dos Goytacazes, Rio de Janeiro, 1999-2004 Oral cleft and its notification in the information system: live Births Declaration analysis in Campos dos Goytacazes, Rio de Janeiro State, 1999-2004

    Directory of Open Access Journals (Sweden)

    Luiz Maurício Nogueira Nunes

    2010-03-01

    Full Text Available O objetivo deste estudo foi investigar a notificação de ocorrência de fissuras orais na Declaração de Nascido Vivo (DNV, através dos três itens do campo 34 (notificação de malformação congênita. Para tal, foram verificados os prontuários de pacientes inscritos em serviços de referência em tratamento de anomalias craniofaciais, incluindo os portadores de fissuras labiopalatinas e nascidos no município de Campos dos Goytacazes (RJ entre 01/01/1999 e 31/12/2004. A seguir, foi feito levantamento junto ao Setor de Dados Vitais da SMS, onde todos os sujeitos da amostra (63 tiveram suas DNV localizadas. Constatou-se que apenas 53,3% das DNV apresentavam o registro de malformação no primeiro item e a subnotificação ocorreu em todos os tipos de fissura, sendo maior na fissura palatina (70%. Quanto à descrição (2º item, a fissura palatina apresentou o maior número de erros, sendo descrita corretamente em 25% dos casos. Todos os documentos estudados apresentaram o código da malformação (3º item em branco. Não houve diferença estatística entre os diferentes profissionais quanto ao preenchimento dos formulários. Deste modo, concluiu-se que a DNV se mostrou ineficiente no registro das fissuras labiopalatais, em decorrência de falhas no preenchimento, principalmente pela ausência do preenchimento do código da CID-10.The objective of this study was to verify the notification of information system for oral clefts in the live births declaration (DNV, studying the 3 items of DNV related to malformation. All the patients' medical records registered in oral cleft reference centers were checked. The inclusion criteria were: a to have any oral cleft and b to be born from 01/01/1999 to 12/31/2004. Next step was to raise the information in the vital data sector of Municipal Health Secretary, where all the DNVs identified were subjects with oral clefts (63 children. The first item presented a large subnotification (only 53.3 of the

  10. CLEFT PALATE. FOUNDATIONS OF SPEECH PATHOLOGY SERIES.

    Science.gov (United States)

    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…

  11. Hypernasality in a Shona child with a cleft palate: A phonological ...

    African Journals Online (AJOL)

    Individuals with hypernasality produce oral sounds with a nasal resonance because of the existence of a cleft palate. This phenomenon has been considered from a number of perspectives, but this article is a description of a phonemic inventory of oral speech sounds produced as nasal sounds by the child under study.

  12. ANATOMICAL VARIATIONS FINDINGS ON CONE BEAM-COMPUTED TOMOGRAPHY IN CLEFT LIP AND PALATE PATIENTS

    Directory of Open Access Journals (Sweden)

    Yllka DECOLLI

    2015-09-01

    Full Text Available Introduction: Cone beam computed tomography (CBCT is frequently used in surgery treatment planning in patients with cleft lip and palate (CLP. The aim of this study was to investigate the presence of different anatomical variations of patients with cleft lip and palate using CBCT images. Materials and method: CBCTs taken from consecutive patients (n =25; mean age 10.7±4 years, range 6.5–23 years with a non-syndromic cleft lip and palate (CLP, between June 2014-2015, were systematically evaluated. Sinuses, nasopharynx, oropharynx, hypopharynx, temporo-mandibular joint (TMJ, maxilla and mandible were checked for incidental findings. Results: On 90.1 % of the CBCTs, incidental findings were found. The most prevalent ones were airway/sinus findings (78.1%, followed by dental problems, e.g. missing teeth (54%, nasal septum deviation (93%, middle ear and mastoid opacification, suggestive for otitis media (8% and (chronic mastoiditis (7%, abnormal TMJ anatomy (4.3%. Conclusions: Incidental findings are common on CBCTs in cleft lip and palate patients. Compared with the literature, CLP patients have more dental, nasal and ear problems. The CBCT scan should be reviewed by all specialists in the CLP team, stress being laid on their specific background knowledge concerning symptoms and treatment of these patients.

  13. Association of MEOX2 polymorphism with nonsyndromic cleft palate only in a Vietnamese population.

    Science.gov (United States)

    Tran, Duy L; Imura, Hideto; Mori, Akihiro; Suzuki, Satoshi; Niimi, Teruyuki; Ono, Maya; Sakuma, Chisato; Nakahara, Shinichi; Nguyen, Tham T H; Pham, Phuong T; Hoang, Viet; Tran, Van T T; Nguyen, Minh D; Natsume, Nagato

    2017-10-14

    To evaluate the association between the single nucleotide polymorphism (SNP) rs227493 in the MEOX2 gene and nonsyndromic cleft palate only, this research was conducted as a case-control study by comparing a nonsyndromic cleft palate only group with an independent, healthy, and unaffected control group who were both examined by specialists. Based on clinical examination and medical records, we analyzed a total of 570 DNA samples, including 277 cases and 293 controls, which were extracted from dry blood spot samples collected from both the Odonto and Maxillofacial Hospital in Ho Chi Minh City and Nguyen Dinh Chieu Hospital in Ben Tre province, respectively. The standard procedures of genotyping the specific SNP (rs2237493) for MEOX2 were performed on a StepOne Realtime PCR system with TaqMan SNP Genotyping Assays. Significant statistical differences were observed in allelic frequencies (allele T and allele G) between the non-syndromic cleft palate only and control groups in female subjects, with an allelic odds ratio of 1.455 (95% confidence interval: 1.026-2.064) and P < 0.05. These study findings suggest that nonsyndromic isolated cleft palate might be influenced by variation of MEOX2, especially SNP rs2237493 in Vietnamese females. © 2017 Japanese Teratology Society.

  14. Multivariate analysis on unilateral cleft lip and palate treatment outcome by EUROCRAN index: A retrospective study.

    Science.gov (United States)

    Yew, Ching Ching; Alam, Mohammad Khursheed; Rahman, Shaifulizan Abdul

    2016-10-01

    This study is to evaluate the dental arch relationship and palatal morphology of unilateral cleft lip and palate patients by using EUROCRAN index, and to assess the factors that affect them using multivariate statistical analysis. A total of one hundred and seven patients from age five to twelve years old with non-syndromic unilateral cleft lip and palate were included in the study. These patients have received cheiloplasty and one stage palatoplasty surgery but yet to receive alveolar bone grafting procedure. Five assessors trained in the use of the EUROCRAN index underwent calibration exercise and ranked the dental arch relationships and palatal morphology of the patients' study models. For intra-rater agreement, the examiners scored the models twice, with two weeks interval in between sessions. Variable factors of the patients were collected and they included gender, site, type and, family history of unilateral cleft lip and palate; absence of lateral incisor on cleft side, cheiloplasty and palatoplasty technique used. Associations between various factors and dental arch relationships were assessed using logistic regression analysis. Dental arch relationship among unilateral cleft lip and palate in local population had relatively worse scoring than other parts of the world. Crude logistics regression analysis did not demonstrate any significant associations among the various socio-demographic factors, cheiloplasty and palatoplasty techniques used with the dental arch relationship outcome. This study has limitations that might have affected the results, example: having multiple operators performing the surgeries and the inability to access the influence of underlying genetic predisposed cranio-facial variability. These may have substantial influence on the treatment outcome. The factors that can affect unilateral cleft lip and palate treatment outcome is multifactorial in nature and remained controversial in general. Copyright © 2016 Elsevier Ireland Ltd. All

  15. First branchial cleft anomaly.

    Science.gov (United States)

    Al-Fallouji, M. A.; Butler, M. F.

    1983-01-01

    A 15-year-old girl presented with a cystic swelling since birth behind the ramus of the right mandible and diagnosed clinically as a dermoid cyst. Surgical exploration, however, showed that it was closely related to the external auditory canal, with an extension running medially behind the parotid gland and ending in the bony middle ear. The facial nerve was closely related to the deep part of the cyst. Such an anatomical position indicates that this was a first branchial cleft anomaly. Surgical excision of the cyst was performed. PMID:6622327

  16. Prevalence and evaluation of environmental risk factors associated with cleft lip and palate in a central Indian population.

    Science.gov (United States)

    Kalaskar, Ritesh; Kalaskar, Ashita; Naqvi, Fatama Sana; Tawani, Gopal S; Walke, Damayanti R

    2013-01-01

    Cleft lip and palate, the most common developmental deformity seen worldwide, may be either genetic or environmental in origin. Recent research clearly shows the inter-relationship between environmental risk factors and development of oral clefts. The purpose of this study was to determine the prevalence of cleft lip and palate in the Nagpur region of India and to evaluate environmental risk factors associated with the occurrence of this orofacial abnormality. The parents of infants born with or without cleft lip and palate were subjected to questionnaires that elicited sociodemographic profiles and histories of maternal dietary, medical, and environmental risk factors as well family histories of cleft. A multifactorial comparison of environmental risk factors associated with this deformity was performed. The prevalence of cleft lip and palate and cleft palate was found to be 0.66% and 0.27%, respectively, in the Nagpur region. The results demonstrated a positive association between cleft lip and palate and the environmental risk factors of nutritional deficiency, anemia, and self-administered medications. Several environmental risk factors appear to play an important role in the development of cleft lip and palate in a Central Indian population of low socioeconomic status.

  17. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis

    Directory of Open Access Journals (Sweden)

    Shailesh Solanki

    2016-01-01

    Full Text Available A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis.

  18. Psychological issues in cleft lip and cleft palate

    OpenAIRE

    Sousa Avinash; Devare Shibani; Ghanshani Jyoti

    2009-01-01

    Vocational and social issues affect rehabilitation and development of patients with cleft lip and cleft palate. However, psychological problems like lowered self esteem and difficulties in social interaction have also been noted in them. Not many pediatric reconstructive surgery teams have a psychiatrist on their panel. It is likely that psychological problems are higher in incidence than literature actually suggests. Hence it is very essential that such cases are identified by the surgical t...

  19. EPIDEMIOLOGICAL SURVEY OF TOOTH DECAY IN YOUNG CHILDREN WITH CLEFT LIP AND PALATE

    Directory of Open Access Journals (Sweden)

    Liliana-Gabriela HALIŢCHI

    2017-03-01

    Full Text Available Aim. Evaluation of the extension of caries risk and incidence of decays of temporary teeth in children with cleft lip and palate. Materials and methods. The study was conducted on a sample of 64 children with various types of cleft lip and palate (31 children with unilateral cleft lip and palate, 18 children with bilateral cleft lip and palate, 5 children with cleft lip and 10 children with cleft palate, aged between 3 and 6 years, investigated in the Orthodontics Clinic of „Apollonia” University. The tooth surfaces were examined with the probe and the mirror, incipient caries and tooth decay with manifest cavities detectable by probing being identified. The gingival status was examined, whichever the inflammatory signs from the free gingival margin and papillae. Oral hygiene was rated by the presence/absence of dental biofilm after examining the buccal and lingual surfaces of the teeth. Statistical analysis was based on the non-parametric Pearson correlation, frequency analysis and linear regression method for determining the functional interrelationships between variables. Results and discussion. In children with cleft lip and palate, the highest incidence of caries occurs on the upper deciduous central incisors and first molars. Carious lesions of the central and lateral incisors tend to increase and decrease in frequency symmetrically and have a strong causal relationship. In 80.6% of cases, the decay of central incisors causes caries on the lateral incisors. Mean number of teeth affected by caries in temporary dentition at ages between 4-6 years is 7.27. The average ratio of dmft is 8.6136, a quite higher value, compared with the normal values registered in normal children, evidencing a faster and more rapid development of dental caries. Poor oral hygiene is associated with cleft and number of caries. It seems that the parents of children with cleft lip and palate have difficulties in implementing an effective brushing technique, given

  20. Cause analysis, prevention, and treatment of postoperative restlessness after general anesthesia in children with cleft palate.

    Science.gov (United States)

    Xu, Hao; Mei, Xiao-Peng; Xu, Li-Xian

    2017-03-01

    Cleft palate is one of the most common congenital malformations of the oral and maxillofacial region, with an incidence rate of around 0.1%. Early surgical repair is the only method for treatment of a cleft lip and palate. However, because of the use of inhalation anesthesia in children and the physiological characteristics of the cleft palate itself combined with the particularities of cleft palate surgery, the incidence rate of postoperative emergence agitation (EA) in cleft palate surgery is significantly higher than in other types of interventions. The exact mechanism of EA is still unclear. Although restlessness after general anesthesia in children with cleft palate is self-limiting, its effects should be considered by clinicians. In this paper, the related literature on restlessness after surgery involving general anesthesia in recent years is summarized. This paper focuses on induction factors as well as prevention and treatment of postoperative restlessness in children with cleft palate after general anesthesia. The corresponding countermeasures to guide clinical practice are also presented in this paper.

  1. Cleft deformities (lip and palate)

    African Journals Online (AJOL)

    dell

    hospital between February 2008 and February 2009, seventeen neonates presented with ..... are low necessitating very large sample sizes often limited by resources. ... Bianco-Davila F: Incidence of cleft lip and palate in northeast of Mexico.

  2. Clinical photography among African cleft caregivers

    Directory of Open Access Journals (Sweden)

    Peter Babatunde Olaitan

    2011-01-01

    Full Text Available Objective: The aim of this paper is to document the practice of photography among clinicians whose daily work depends and is influenced so much by medical photography. Materials and Methods: Questionnaires documenting the bio data, place of practice, and experience of cleft caregivers with clinical photography were distributed. Knowledge of rules guiding clinical photography and adherence to them were also asked. Types of camera used were documented and knowledge of the value of clinical photographs were also inquired. Results: Plastic surgeons constitute the highest proportion of 27 (38.6%, followed by Oral and Maxillofacial surgeons with 14 (20.0%. Twenty one (30.0% of the respondents always, 21 (30.0% often, 12 (17.1% frequently, while 9 respondents sometimes took photographs of their patients. Suggested uses of clinical photographs included training, 52 (74.3%, education, 51 (72.9%, medicolegal, 44 (62.9% and advertisement, 44 (62.9% among others. Twenty two (31.4% did not know that there were standard guidelines for taking clinical photographs. Twenty three (32.9% of them did not seek the consent of the patients before taking clinical photographs. Conclusion: While the practice of clinical photography is high among African cleft caregivers, there is a need for further education on the issues of standard rules and obtaining consent from patients.

  3. Strategies to Improve Regeneration of the Soft Palate Muscles After Cleft Palate Repair

    Science.gov (United States)

    Carvajal Monroy, Paola L.; Grefte, Sander; Kuijpers-Jagtman, Anne Marie; Wagener, Frank A.D.T.G.

    2012-01-01

    Children with a cleft in the soft palate have difficulties with speech, swallowing, and sucking. These patients are unable to separate the nasal from the oral cavity leading to air loss during speech. Although surgical repair ameliorates soft palate function by joining the clefted muscles of the soft palate, optimal function is often not achieved. The regeneration of muscles in the soft palate after surgery is hampered because of (1) their low intrinsic regenerative capacity, (2) the muscle properties related to clefting, and (3) the development of fibrosis. Adjuvant strategies based on tissue engineering may improve the outcome after surgery by approaching these specific issues. Therefore, this review will discuss myogenesis in the noncleft and cleft palate, the characteristics of soft palate muscles, and the process of muscle regeneration. Finally, novel therapeutic strategies based on tissue engineering to improve soft palate function after surgical repair are presented. PMID:22697475

  4. Maxillary distraction osteogenesis versus orthognathic surgery for cleft lip and palate patients.

    Science.gov (United States)

    Kloukos, Dimitrios; Fudalej, Piotr; Sequeira-Byron, Patrick; Katsaros, Christos

    2016-09-30

    Cleft lip and palate is one of the most common birth defects and can cause difficulties with feeding, speech and hearing, as well as psychosocial problems. Treatment of orofacial clefts is prolonged; it typically commences after birth and lasts until the child reaches adulthood or even into adulthood. Residual deformities, functional disturbances, or both, are frequently seen in adults with a repaired cleft. Conventional orthognathic surgery, such as Le Fort I osteotomy, is often performed for the correction of maxillary hypoplasia. An alternative intervention is distraction osteogenesis, which achieves bone lengthening by gradual mechanical distraction. To provide evidence regarding the effects and long-term results of maxillary distraction osteogenesis compared to orthognathic surgery for the treatment of hypoplastic maxilla in people with cleft lip and palate. We searched the following electronic databases: Cochrane Oral Health's Trials Register (to 16 February 2016), the Cochrane Central Register of Controlled Trials (CENTRAL) (the Cochrane Library, 2016, Issue 1), MEDLINE Ovid (1946 to 16 February 2016), Embase Ovid (1980 to 16 February 2016), LILACS BIREME (1982 to 16 February 2016), the US National Institutes of Health Ongoing Trials Register (ClinicalTrials.gov) (to 16 February 2016), and the World Health Organization (WHO) International Clinical Trials Registry Platform (to 16 February 2016). There were no restrictions regarding language or date of publication in the electronic searches. We performed handsearching of six speciality journals and we checked the reference lists of all trials identified for further studies. We included randomised controlled trials (RCTs) comparing maxillary distraction osteogenesis to conventional Le Fort I osteotomy for the correction of cleft lip and palate maxillary hypoplasia in non-syndromic cleft patients aged 15 years or older. Two review authors assessed studies for eligibility. Two review authors independently

  5. "Quality of Life in Adults with Non-Syndromic Craniosynostosis".

    Science.gov (United States)

    Mazzaferro, Daniel M; Naran, Sanjay; Wes, Ari M; Magee, Leanne; Taylor, Jesse A; Bartlett, Scott P

    2018-03-19

    While studies have analyzed quality of life (QOL) in children with non-syndromic craniosynostosis (NSC), to date nobody has investigated long-term QOL in adults with NSC. The purpose of this study is to compare QOL in adult NSC patients with a cohort of unaffected controls. We queried our institution's prospectively maintained craniofacial registry for NSC patients 18 years and older, and administered the validated World Health Organization Quality of Life (WHOQOL-BREF) questionnaire. Responses were compared, using a two-sample t-test, to an age-matched, United States, normative database provided by the World Health Organization (WHO). 151 adults met inclusion criteria: 52 were successfully contacted and 32 completed the WHOQOL-BREF. Average age of respondents was 23.0±6.1 years old (range, 18.1 to 42.1). 12 subjects had metopic synostosis, 15 had unicoronal, and 5 had sagittal. NSC patients had a superior quality of life compared to comparative norms in all domains: physical health (17.8±2.7 vs. 15.5±3.2, p0.05), while all individual subtypes maintained superior or equivalent QOL relative to controls. Demographic variables, Whitaker score, and number of surgical interventions did not correlate with differences in QOL. Adult patients previously treated for NSC perceive their quality of life to be high, superior to that of a normative United States sample. Future work will seek to analyze additional patients and better understand the reasons behind these findings.

  6. Secondary bone grafting for alveolar cleft in children with cleft lip or cleft lip and palate

    NARCIS (Netherlands)

    Guo, J.; Li, C.; Zhang, Q.; Wu, G.; Deacon, S.A.; Chen, J.; Hu, H.; Zou, S.; Ye, Q.

    2011-01-01

    BACKGROUND: Secondary alveolar bone grafting has been widely used to reconstruct alveolar cleft. However, there is still some controversy. OBJECTIVES: To compare the effectiveness and safety of different secondary bone grafting methods. SEARCH STRATEGY: The final electronic and handsearches were

  7. Measuring quality of life in cleft lip and palate patients: currently available patient-reported outcomes measures.

    Science.gov (United States)

    Eckstein, Donna A; Wu, Rebecca L; Akinbiyi, Takintope; Silver, Lester; Taub, Peter J

    2011-11-01

    Patient-reported outcomes in cleft lip and palate treatment are critical for patient care. Traditional surgical outcomes focused on objective measures, such as photographs, anatomic measurements, morbidity, and mortality. Although these remain important, they leave many questions unanswered. Surveys that include aesthetics, speech, functionality, self-image, and quality of life provide more thorough outcomes assessment. It is vital that reliable, valid, and comprehensive questionnaires are available to craniofacial surgeons. The authors performed a literature review to identify questionnaires validated in cleft lip and palate patients. Qualifying instruments were assessed for adherence to guidelines for development and validation by the scientific advisory committee and for content. The authors identified 44 measures used in cleft lip and palate studies. After 15 ad hoc questionnaires, eight generic instruments, 11 psychiatric instruments, and one non-English language questionnaire were excluded, nine measures remained. Of these, four were never validated in the cleft population. Analysis revealed one craniofacial-specific measure (Youth Quality of Life-Facial Differences), two voice-related measures (Patient Voice-Related Quality of Life and Cleft Audit Protocol for Speech-Augmented), and two oral health-related measures (Child Oral Health Impact Profile and Child Oral Health Quality of Life). The Youth Quality of Life-Facial Differences, Child Oral Health Impact Profile, and Child Oral Health Quality of Life questionnaires were sufficiently validated. None was created specifically for clefts, resulting in content limitations. There is a lack of comprehensive, valid, and reliable questionnaires for cleft lip and palate surgery. For thorough assessment of satisfaction, further research to develop and validate cleft lip and palate surgery-specific instruments is needed.

  8. The "Double" Tessier 7 Cleft: An Unusual Presentation of a Transverse Facial Cleft.

    Science.gov (United States)

    Raveendran, Janani A; Chao, Jerry W; Rogers, Gary F; Boyajian, Michael J

    2018-07-01

    Congenital macrostomia, or Tessier number 7 cleft, is a rare craniofacial anomaly. We present a unique patient with bilateral macrostomia that consisted of a "double" transverse cleft on the left side and a single transverse cleft on the right side. A staged reconstructive approach was used to repair the "double" left-sided clefts. This staged technique produced a satisfactory aesthetic and functional outcome.

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

    Science.gov (United States)

    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…

  10. Cleft Type, Age, and Sex Differences in Teen-Agers' Ratings of Their Own Behavior, Self-Esteem, and Attitude toward Clefting.

    Science.gov (United States)

    Starr, Philip

    1980-01-01

    The behavior, self-esteem, and attitude toward clefting of 94 adolescents being treated at a clinic for oral-facial anomalies and communicative disorders were examined. Younger teenagers were more aggressive, more active, and had more somatic complaints than did the older teenagers. (SBH)

  11. Cleft Lip – A Comprehensive Review

    OpenAIRE

    Shkoukani, Mahdi A.; Chen, Michael; Vong, Angela

    2013-01-01

    Orofacial clefts comprise a range of congenital deformities and are the most common head and neck congenital malformation. Clefting has significant psychological and socio- economic effects on patient quality of life and require a multidisciplinary team approach for management. The complex interplay between genetic and environmental factors play a significant role in the incidence and cause of clefting. In this review, the embryology, classification, epidemiology, and etiology of cleft lip ar...

  12. Unusual case of cleft hand

    Directory of Open Access Journals (Sweden)

    Sahasrabudhe Parag

    2007-01-01

    Full Text Available We present a case of a six-year-old male child with cleft hand deformity involving the dominant right hand. It was a rare case of atypical cleft hand with no missing tissue but cleft extending to metacarpal level and associated hypoplasia of thumb and index finger. As per Manske′s classification of cleft hand our patient belongs to the Class III variety. There was associated malposition of the index finger with absence of first web space and syndactly of thumb and index finger at the metacarpal level. A modified Snow-Littler procedure was planned. The surgical plan involved closure of cleft, release of thumb and index finger syndactly and reconstruction of the first web space. The functional outcome was good considering hypoplasia of the index finger and thumb. Depending upon the function of the thumb tendon transfers can be planned to augment thumb function at a later date along with correction of rotational deformities of the index and middle finger.

  13. Cleft Lip and Cleft Palate Surgery: Malpractice Litigation Outcomes.

    Science.gov (United States)

    Justin, Grant A; Brietzke, Scott E

    2017-01-01

      This study examined malpractice claims related to cleft lip and cleft palate surgery to identify common allegations and injuries and reviewed financial outcomes.   The WestlawNext legal database was analyzed for all malpractice lawsuits and settlements related to the surgical repair of cleft lip and palate.   Inclusion criteria included patients undergoing surgical repair of a primary cleft lip or palate or revision for complications of previous surgery. Data evaluated included patient demographics, type of operation performed, plaintiff allegation, nature of injury, and litigation outcomes.   A total of 36 cases were identified, with 12 unique cases from 1981 to 2006 meeting the inclusion criteria. Six cases (50%) were decided by a jury and six by settlement. Five cases involved complications related to the specific surgery, and the other seven were associated with any surgery and perioperative care of children and adults. Cleft palate repair (50%) was the most frequently litigated surgery. Postoperative negligent supervision was the most common allegation (42%) and resulted in a payout in each case (mean = $3,126,032). Death (42%) and brain injury (25%) were the most frequent injuries reported. Financial awards were made in nine cases (after adjusting for inflation, mean = $2,470,552, range = $0 to $7,704,585). The awards were significantly larger for brain injury than other outcomes ($4,675,395 versus $1,368,131 after adjusting for inflation, P = .0101).   Malpractice litigation regarding cleft lip and palate surgery is uncommon. However, significant financial awards involving perioperative brain injury have been reported.

  14. [Double second branchial cleft anomaly].

    Science.gov (United States)

    Muñoz-Fernández, Noelia; Mallea-Cañizares, Ismael; Fernández-Julián, Enrique; De La Fuente-Arjona, Luís; Marco-Algarra, Jaime

    2011-01-01

    Second branchial cleft anomalies are the most common of this type of neck masses. They can be classified in four types (Bailey/Proctor classification) according to their location. Type II is the most common, and related to vital neck structures such as the carotid artery and jugular vein. Cysts are the most frequent among them. Management consists of surgical excision of the cyst and tract by cervicotomy to avoid recurrence. We present an extremely rare case of a 32-year-old male who presented a sudden appearance of a right lateral neck mass that was identified by an image study as a double branchial cleft cyst. A review of simultaneous branchial cleft cyst in the literature is also made. Copyright © 2009 Elsevier España, S.L. All rights reserved.

  15. [Surgical correction of cleft palate].

    Science.gov (United States)

    Kimura, F T; Pavia Noble, A; Soriano Padilla, F; Soto Miranda, A; Medellín Rodríguez, A

    1990-04-01

    This study presents a statistical review of corrective surgery for cleft palate, based on cases treated at the maxillo-facial surgery units of the Pediatrics Hospital of the Centro Médico Nacional and at Centro Médico La Raza of the National Institute of Social Security of Mexico, over a five-year period. Interdisciplinary management as performed at the Cleft-Palate Clinic, in an integrated approach involving specialists in maxillo-facial surgery, maxillar orthopedics, genetics, social work and mental hygiene, pursuing to reestablish the stomatological and psychological functions of children afflicted by cleft palate, is amply described. The frequency and classification of the various techniques practiced in that service are described, as well as surgical statistics for 188 patients, which include a total of 256 palate surgeries performed from March 1984 to March 1989, applying three different techniques and proposing a combination of them in a single surgical time, in order to avoid complementary surgery.

  16. Surgical treatment of cleft lip

    Directory of Open Access Journals (Sweden)

    Mateus Domingues Miachon

    Full Text Available We performed a systematic review of the literature on the surgical treatment of cleft lip, emphasizing the prevalence, complications associated with the treatment and the points of disagreement between authors. We conducted a literature cross-sectional search that analyzed publications in books, articles and on the databases SciELO - Scientific Electronic Library Online, PubMed, of the National Center for Biotechnology Information. We conclude that: 1 the severity of the cleft will indicate the technique presenting more advantages; 2 the different approaches indicate that there is no consensus on the optimal technique; and 3 the surgeon experience contributes to choosing the best option.

  17. Primary unilateral cleft lip repair

    OpenAIRE

    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 clos...

  18. Intravelar veloplasty in cleft lip, alveolus and palate and outcome of speech and language acquisition: a prospective study.

    Science.gov (United States)

    Bitter, Klaus; Wegener, Carla; Gomille, Nadine

    2003-12-01

    Speech and language acquisition are major, important criteria in the treatment outcomes of cleft lip and palate patients. A generally accepted and definitive treatment protocol regarding surgical techniques and the time schedule does not yet exist. In the world literature, there are reports of velo-pharyngeal insufficiency rates between 7 and 30%. In a prospective study, all children aged 312 months with cleft lip, alveolus and palate, or cleft palate only, underwent an intravelar veloplasty. Follow-up monitoring consisted of frequent clinical linguistic checks and supervision of language development without a planned intention of articulation therapy before the age of about 5 years. Three hundred and ninety-seven children with non-syndromic clefts were included in this study, the youngest being 8-year old. Sixty children (15%) showed deviations in language and speech acquisition. From these, 56 (14%) had received articulation therapy after the 5th birthday. From these 56 children, 45 had overcome their problems with speech therapy alone whereas 11 (3%) needed a velo-pharyngeoplasty. Although these results are much better than those reported in other cohorts, some children still have velo-pharyngeal incompetence for no apparent reason. One possible explanation might be surgical, since on occasions, the intravelar muscle bundle is divided into two parts and the palato-pharyngeal part runs isolated more laterally and can be missed during reconstruction and retropositioning.

  19. Cleft deformities in adults and children aged over six years in Nigeria: Reasons for late presentation and management challenges

    Directory of Open Access Journals (Sweden)

    Wasiu L Adeyemo

    2009-11-01

    Full Text Available Wasiu L Adeyemo1, Mobolanle O Ogunlewe1, Ibironke Desalu2, Akinola L Ladeinde1, Bolaji O Mofikoya3, Michael O Adeyemi4, Adegbenga A Adepoju4, Olufemi O Hassan41Department of Oral and Maxillofacial Surgery, Faculty of Dental Sciences, 2Department of Anaesthesia, 3Department of Surgery, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria; 4Department of Oral and Maxillofacial Surgery, Lagos University Teaching Hospital, Lagos, NigeriaAbstract: In developing countries, untreated cleft lips and palates are found with increasing frequency and patients often present to the surgeon far past the optimal time for closure of the cleft deformities. A prospective study was conducted between March 2007 and September 2009, to identify the reasons and treatment challenges of delayed presentation of cleft lip and palate deformities at the Lagos University Teaching Hospital, Nigeria. Out of a total of 150 patients with cleft defects during the period, 43 (28.7% were adults and children aged over six years. The mean age of these patients at the time of presentation was 17.3 years. The most common reasons for late presentation were lack of money (56.7%, lack of health care services nearby (18.4%, and lack of awareness of treatment availability (13.3%. Common challenges in these patients included surgical, orthodontic, speech, anesthetic, and psychological. Although adult clefts were significantly enlarged in three dimensions the anatomic landmarks were easier to discern than in an infant. However, extensive soft tissue dissection in adult cleft lip repair resulted in significant postoperative edema. Closure of wide palatal cleft often required the use of adjunct intraoral flaps. Despite late presentation, surgical outcome of these patients was satisfactory and comparable to cleft repair in infants.Keywords: cleft deformities, adults, adolescents, late presentation, management, challenges

  20. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    Science.gov (United States)

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  1. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

    OpenAIRE

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  2. Orthognathic surgery in cleft patients.

    Science.gov (United States)

    Phillips, John H; Nish, Iain; Daskalogiannakis, John

    2012-03-01

    After studying this article, the participant should be able to: 1. Identify the skeletal changes in the cleft patient that necessitate surgery. 2. Describe the orthodontic principles that precede surgical treatment. 3. Demonstrate the surgical principles involved in cleft orthognathic surgery and how to avoid common pitfalls particular to cleft orthognathic surgery. 4. Anticipate when dentoalveolar distraction can help in the treatment of problems not easily treated with conventional orthognathic techniques. This CME article covers the basic multidisciplinary approach to the treatment of patients requiring a combined orthodontic orthognathic approach to their skeletally based malocclusion. The dentoskeletal abnormalities are described for these patients, as are the fundamental orthodontic principles in the presurgical treatment of these patients. The basic surgical principles are discussed in general, and the reader is provided with advice on avoiding common pitfalls. Specific attention is given to the more recent advances in dentoalveolar distraction in cases of large defects that would have been difficult to treat using conventional orthognathic surgery. Videos are provided to illustrate the general principles in treating the cleft orthognathic patient and to illustrate the treatment of large defects using dentoalveolar distraction.

  3. Simulating clefts in pumpkin balloons

    Science.gov (United States)

    Baginski, Frank; Brakke, Kenneth

    2010-02-01

    The geometry of a large axisymmetric balloon with positive differential pressure, such as a sphere, leads to very high film stresses. These stresses can be significantly reduced by using a tendon re-enforced lobed pumpkin-like shape. A number of schemes have been proposed to achieve a cyclically symmetric pumpkin shape, including the constant bulge angle (CBA) design, the constant bulge radius (CBR) design, CBA/CBR hybrids, and NASA’s recent constant stress (CS) design. Utilizing a hybrid CBA/CBR pumpkin design, Flight 555-NT in June 2006 formed an S-cleft and was unable to fully deploy. In order to better understand the S-cleft phenomenon, a series of inflation tests involving four 27-m diameter 200-gore pumpkin balloons were conducted in 2007. One of the test vehicles was a 1/3-scale mockup of the Flight 555-NT balloon. Using an inflation procedure intended to mimic ascent, the 1/3-scale mockup developed an S-cleft feature strikingly similar to the one observed in Flight 555-NT. Our analysis of the 1/3-scale mockup found it to be unstable. We compute asymmetric equilibrium configurations of this balloon, including shapes with an S-cleft feature.

  4. Suboptimal Performance in Cleft Lip/Palate Children- Who is Responsible?

    Science.gov (United States)

    Lakhkar, Bhavana B

    2016-10-01

    Information in this article is from an observational study comparing intelligence in children with cleft lip and palate with normal children. Both groups performed "draw a man test", the investigator noted the attitude and behaviour of children and their parents. The study shows low, but normal intelligence quotient in children with oral defects as compared to normal. The probable reason for sub-normal performance appeared to be overprotective attitude of parents and poor self esteem of children with oral defects.

  5. Clinical Study of Second Branchial Cleft Anomalies.

    Science.gov (United States)

    Lee, Dong Hoon; Yoon, Tae Mi; Lee, Joon Kyoo; Lim, Sang Chul

    2018-03-30

    The objective of this study was to review the clinical characteristics and surgical treatment outcomes of second branchial cleft anomalies, and to evaluate the usefulness and accuracy of preoperative fine-needle aspiration cytology (FNAC) in the diagnosis of branchial cleft cysts. A retrospective chart review was performed at Chonnam National University Hwasun Hospital from January 2010 to December 2016. Among 25 patients with second branchial cleft anomalies, in 23 patients (92.0%), these anomalies presented as cysts, and in the remaining 2 patients (8.0%), these anomalies presented as fistulas. Fine-needle aspiration cytology had a diagnostic sensitivity of 100%, a positive-predictive value of 100%, and accuracy of 100% for diagnosing second branchial cleft cyst. All patients of second branchial cleft anomalies were treated surgically under general anesthesia. No recurrence of second branchial cleft anomalies was observed. Branchial cleft cysts were the most common type of second branchial cleft anomalies. Preoperative FNAC is a useful and accurate method for preoperative evaluation of branchial cleft cysts. Surgical excision of second branchial cleft anomalies is the treatment of choice without any complications and with no recurrence.

  6. The second branchial cleft fistula.

    Science.gov (United States)

    Maddalozzo, John; Rastatter, Jeffrey C; Dreyfuss, Heath F; Jaffar, Reema; Bhushan, Bharat

    2012-07-01

    To review the surgical anatomy and histopathology of second branchial cleft fistulae. Retrospective study of patients treated for second branchial cleft fistulae at a tertiary care pediatric hospital. The senior author noted anatomic and histologic features of second branchial cleft fistulae, not previously described. Tertiary care children's hospital. Retrospective examination of 28 patients was conducted who were operated upon for second branchial cleft fistula. Data collected included age at surgery, initial presentation, imaging characteristics prior to surgery, laterality of the fistula tract, pathology results and follow-up data. Twenty-eight patients met the criteria for inclusion. Three patients (11%) had bilateral fistulae. 11 (39%) were male and 17 (61%) were female. 23 (74.2%) tracts were lined with ciliated columnar epithelium, 3 (9.7%) had cuboidal epithelium, and 5 (16.7%) had squamous epithelium. Nineteen (61.3%) tracts contained salivary tissue. Of the unilateral fistula tracts, 25 (100%) were on the right side. Of the 3 patients with bilateral lesions, 2 (66%) had associated branchio-oto-renal syndrome (BORS). Second branchial cleft fistulae are rare. They are usually right-sided. If bilateral fistulae are present, one should consider an underlying genetic disorder. The histology of the fistulae mostly demonstrates ciliated columnar epithelium with the majority of specimens showing salivary tissue. There is a clear association with the internal jugular vein (IJV). Dissection should continue until superior to the hyoid bone, ensuring near complete surgical dissection and less risk of recurrence. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  7. Bilateral cleft lip nasal deformity

    Directory of Open Access Journals (Sweden)

    Singh Arun

    2009-01-01

    Full Text Available Bilateral cleft lip nose deformity is a multi-factorial and complex deformity which tends to aggravate with growth of the child, if not attended surgically. The goals of primary bilateral cleft lip nose surgery are, closure of the nasal floor and sill, lengthening of the columella, repositioning of the alar base, achieving nasal tip projection, repositioning of the lower lateral cartilages, and reorienting the nares from horizontal to oblique position. The multiplicity of procedures in the literature for correction of this deformity alludes to the fact that no single procedure is entirely effective. The timing for surgical intervention and its extent varies considerably. Early surgery on cartilage may adversely affect growth and development; at the same time, allowing the cartilage to grow in an abnormal position and contributing to aggravation of deformity. Some surgeons advocate correction of deformity at an early age. However, others like the cartilages to grow and mature before going in for surgery. With peer pressure also becoming an important consideration during the teens, the current trend is towards early intervention. There is no unanimity in the extent of nasal dissection to be done at the time of primary lip repair. While many perform limited nasal dissection for the fear of growth retardation, others opt for full cartilage correction at the time of primary surgery itself. The value of naso-alveolar moulding (NAM too is not universally accepted and has now more opponents than proponents. Also most centres in the developing world have neither the personnel nor the facilities for the same. The secondary cleft nasal deformity is variable and is affected by the extent of the original abnormality, any prior surgeries performed and alteration due to nasal growth. This article reviews the currently popular methods for correction of nasal deformity associated with bilateral cleft lip, it′s management both at the time of cleft lip repair

  8. Secondary Alveolar Bone Grafting in Patients Born With Unilateral Cleft Lip and Palate: A 20-Year Follow-up.

    Science.gov (United States)

    Jabbari, Fatemeh; Wiklander, Laila; Reiser, Erika; Thor, Andreas; Hakelius, Malin; Nowinski, Daniel

    2018-02-01

    To identify factors of oral health important for the final outcome, after secondary alveolar bone grafting in patients born with unilateral cleft lip and palate and compare occlusal radiographs with cone beam computed tomography (CBCT) in assessment of alveolar bone height. Observational follow-up study. Cleft Lip and Palate Team, Craniofacial Center, Uppsala University Hospital, Sweden. 40 nonsyndromic, Caucasian patients with unilateral complete cleft lip and palate. Clinical examination, CBCT, and occlusal radiographs. Alveolar bone height was evaluated according to Bergland index at a 20-year follow-up. The alveolar bone height in the cleft area was significantly reduced compared to a previously reported 10-year follow-up in the same cohort by total ( P = .045) and by subgroup with dental restoration ( P = .0078). This was positively correlated with the gingival bleeding index (GBI) ( r = 0.51, P = .0008) and presence of dental restorations in the cleft area ( r = 0.45, P = .0170). There was no difference in the Bergland index generated from scoring the alveolar bone height on occlusal radiographs as with the equivalent index on CBCT. Patients rehabilitated with complex dental restoration seems to be at higher risk for progression of bone loss in the cleft area. Supportive periodontal therapy should be implemented after complex dental restorations in cleft patients. Conventional occlusal radiographs provide an adequate image for evaluating postoperative bone height in clinical follow-up.

  9. Dental Care for a Child with Cleft Lip and Palate

    Science.gov (United States)

    ... Donor Spotlight Fundraising Ideas Vehicle Donation Volunteer Efforts Dental Care for a Child with Cleft Lip and ... submenu What We Do Cleft & Craniofacial Educational Materials Dental Care for a Child with Cleft Lip and ...

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

    Science.gov (United States)

    ... here What treatment is available for adults with cleft lip and palate? Treatments currently available to infants and children with cleft lip and palate are also available to adults with clefts. Although ...

  11. The Association study of nonsyndromic cleft lip with or without cleft ...

    Indian Academy of Sciences (India)

    Navya

    2016-11-25

    Nov 25, 2016 ... These authors contributed equally to this work. .... individuals without a family history of orofacial clefts or other major congenital defects. ..... Wehby G. L., Cassell C. H. 2010 The impact of orofacial clefts on quality of life and.

  12. FOXE1 Association with both Isolated Cleft Lip with or without Cleft Palate; and Isolated Cleft Palate

    DEFF Research Database (Denmark)

    Moreno, Lina M; Mansilla, Maria Adela; Bullard, Steve A

    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......) and rs4460498 (p=6.51E-12) were located inside a 70Kb high LD 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...

  13. Periodontal and microbiological parameters in children and adolescents with cleft lip and /or palate.

    Science.gov (United States)

    Perdikogianni, Hariklia; Papaioannou, William; Nakou, Melachrini; Oulis, Constantine; Papagiannoulis, Liza

    2009-11-01

    Objective. To evaluate the oral hygiene and the periodontal condition of children and adolescents with cleft lip and/or palate (CLP). Methods. Forty-one children and adolescents, 4-18 years, with CLP and 41 normal controls participated. Clinical parameters examined were the plaque and gingival index and Community Periodontal Index of Treatment Needs. For teeth in the cleft area, probing pocket depth, bleeding on probing, and tooth mobility were also evaluated. Samples of subgingival plaque were collected from 21 randomly selected patients of each group. Results. The CLP group had generally poorer oral hygiene (plaque index significantly higher) compared with the control. Children in both groups presented mild degree of gingivitis. Teeth in the cleft area had significantly higher pocket probing depth and tooth mobility, compared with corresponding teeth in the control group. The microbial analysis did not reveal significant differences in the composition of the subgingival microbiota between groups. Teeth in the cleft presented higher isolation frequencies and mean percentages of periodontopathic bacteria. Conclusion. Youngsters with CLP showed poor oral hygiene and worse periodontal condition, compared with controls. The above results advocate their participation in an intensive preventive dental programme that should start at an early age, possibly decreasing the risk of future periodontal disease.

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

    Science.gov (United States)

    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…

  15. Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: A subphenotype analysis using two population-based studies of orofacial clefts in scandinavia

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Shi, Min; Gjessing, Håkon Kristian

    2010-01-01

    BACKGROUND: Cleft lip only (CLO) and cleft lip and palate (CLP) are commonly regarded as variants of the same defect and are traditionally combined to form the single group of cleft lip with or without cleft palate (CL/P) prior to analysis. However, recent data have suggested that at least a subg...

  16. Face facts: Genes, environment, and clefts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, J.C. [Univ. of Iowa, Iowa City IA (United States)

    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.

  17. Improving Informed Consent for Cleft Palate Repair

    Science.gov (United States)

    2017-03-07

    Cleft Palate; Jaw Abnormalities; Maxillofacial Abnormalities; Mouth Abnormalities; Congenital Abnormalities; Jaw Diseases; Musculoskeletal Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Stomatognathic Diseases; Stomatognathic System Abnormalities

  18. Evidence-Based Medicine: Cleft Palate.

    Science.gov (United States)

    Woo, Albert S

    2017-01-01

    After studying this article, the participant should be able to: 1. Describe the incidence of cleft palate and risk factors associated with development of an orofacial cleft. 2. Understand differences among several techniques to repair clefts of both the hard and soft palates. 3. Discuss risk factors for development of postoperative fistulas, velopharyngeal insufficiency, and facial growth problems. 4. Establish a treatment plan for individualized care of a cleft palate patient. Orofacial clefts are the most common congenital malformations of the head and neck region, and approximately three-quarters of these patients have some form of cleft palate deformity. Cleft palate repair is generally performed in children between 6 and 12 months of age. The goals of palate repair are to minimize the occurrence of fistulas, establish a normal velopharyngeal mechanism, and optimize facial growth. This Maintenance of Certification review discusses the incidence and epidemiology associated with cleft palate deformity and specifics associated with patient care, including analgesia, surgical repair techniques, and complications associated with repair of the cleft palate.

  19. Cleft lip and/or palate genetic conditioning – is MMP2 gene polymorphism important for thisdefect development?

    Directory of Open Access Journals (Sweden)

    Marzena Zalewska-Ziob

    2014-09-01

    Full Text Available Introduction: Cleft lip/palate is one of the most common congenital malformations. In Poland, approximately 500 children with an orofacial cleft are born every year. Matrix metalloproteinases are involved in periodontal tissue remodelling and degradation. Polymorphisms in the promoter region of the MMP2 gene may affect transcription and activity of the protein produced by this gene. The aim of the study was to examine 1306 C/T MMP2 gene promoter polymorphisms in the group of children with cleft lip/palate and in the control group as well as to determine the frequency of individual genotypes in different types of orofacial clefts. Material and methods: The study was conducted in the group of 150 children with cleft lip/palate and 102 children without an orofacial cleft. Genomic DNA was obtained from oral mucosa epithelium. The MMP2 gene promoter polymorphism was genotyped by tetra-primer ARMS-PCR. Results: There are no significant differences in the frequency of individual alleles in different types of orofacial clefts. The occurrence of the CC genotype was significantly higher in the group with cleft lip and palate than in the healthy group (p = 0.005. Conclusion: Determining the polymorphism of matrix metalloproteinase gene promoter sequence can contribute to the elucidation of cleft lip/palate aetiopathogenesis.

  20. Cleft lip and palate subjects prevalence of abnormal stylohyoid complex and tonsilloliths on cone beam computed tomography.

    Science.gov (United States)

    Cazas-Duran, Eymi Valery; Fischer Rubira-Bullen, Izabel Regina; Pagin, Otávio; Stuchi Centurion-Pagin, Bruna

    Tonsilloliths and abnormal stylohyoid complex may have similar symptoms to others of different aetiology. Individuals with cleft lip and palate describe similar symptoms because of the anatomical implications that are peculiar to this anomaly. The aim of this study was to determine the prevalence of abnormal stylohyoid complex and tonsilloliths on cone beam computed tomography in individuals with cleft lip and palate. According to the inclusion and exclusion criteria, 66 CT scans out of of 2,794 were analysed, on i- Cat ® vision software with 0.8 index Kappa intra-examiner. The total prevalence of ossification of the incomplete stylohyoid complex in individuals with cleft lip and palate was 66.6%; the prevalence of these findings in females was 75% and 61.9% in males. The total prevalence of tonsilloliths was 7.5%. It is important to ascertain calcification of the stylohyoid complex and tonsilloliths in the radiological report, due to the anatomical proximity and similarsymptomatology to other orofacial impairments inindividuals with cleft lip and palate, focusing on females with oral cleft formation, patients with incisive trans foramen cleft and incisive post foramen cleft because they are more prevalent. Greater knowledge of the anatomical morphometry of individuals with cleft lip and palate greatly contributes towards the selection of clinical behaviours and the quality of life of these patients, since cleft lip and palateis one of the most common anomalies. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

  1. A novel approach for prosthodontic management of patient with cleft of palate

    Directory of Open Access Journals (Sweden)

    Shalini Goyal

    2017-01-01

    Full Text Available Nutrition is important in every stage of child development. A child born with cleft lip and palate may experience difficulties while feeding due to the lack of seal of the oral cavity due to incomplete facial and palatal structures. Difficulty in feeding leads to inadequate nutrition and affects the health. Children with cleft lip and palate need certain modifications to thrive and grow. Feeding difficulties should be assessed and intervened as early as possible, as they are an important aspect of multidisciplinary team approach in management and may have an impact on long-term outcome. This case report presents fabrication of feeding appliance in 6-month-old infant with cleft palate with ethylene vinyl acetate.

  2. Influence of lip closure on alveolar cleft width in patients with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Schmelzle Rainer

    2011-01-01

    Full Text Available Abstract Background The influence of surgery on growth and stability after treatment in patients with cleft lip and palate are topics still under discussion. The aim of the present study was to investigate the influence of early lip closure on the width of the alveolar cleft using dental casts. Methods A total of 44 clefts were investigated using plaster casts, 30 unilateral and 7 bilateral clefts. All infants received a passive molding plate a few days after birth. The age at the time of closure of the lip was 2.1 month in average (range 1-6 months. Plaster casts were obtained at the following stages: shortly after birth, prior to lip closure, prior to soft palate closure. We determined the width of the alveolar cleft before lip closure and prior to soft palate closure measuring the alveolar cleft width from the most lateral point of the premaxilla/anterior segment to the most medial point of the smaller segment. Results After lip closure 15 clefts presented with a width of 0 mm, meaning that the mucosa of the segments was almost touching one another. 19 clefts showed a width of up to 2 mm and 10 clefts were still over 2 mm wide. This means a reduction of 0% in 5 clefts, of 1-50% in 6 clefts, of 51-99% in 19 clefts, and of 100% in 14 clefts. Conclusions Early lip closure reduces alveolar cleft width. In most cases our aim of a remaining cleft width of 2 mm or less can be achieved. These are promising conditions for primary alveolar bone grafting to restore the dental bony arch.

  3. Laryngo-tracheo-oesophageal clefts

    Directory of Open Access Journals (Sweden)

    Leboulanger Nicolas

    2011-12-01

    Full Text Available Abstract A laryngo-tracheo-esophageal cleft (LC is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital malformations of the larynx. These incidence rates may however be underestimated due to difficulty in diagnosing minor forms and a high mortality rate in severe forms. A slightly higher incidence has been reported in boys than in girls. No specific geographic distribution has been found. Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft. LC is often associated with other congenital abnormalities/anomalies (16% to 68%, mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4, and gastro-esophageal reflux disease (GERD. The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The causes of the embryological developmental anomalies leading to LC are not known but are thought to be multifactorial. LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported. The age of diagnosis depends mainly on the severity of

  4. Laryngo-tracheo-oesophageal clefts

    Science.gov (United States)

    2011-01-01

    A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital malformations of the larynx. These incidence rates may however be underestimated due to difficulty in diagnosing minor forms and a high mortality rate in severe forms. A slightly higher incidence has been reported in boys than in girls. No specific geographic distribution has been found. Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft. LC is often associated with other congenital abnormalities/anomalies (16% to 68%), mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4), and gastro-esophageal reflux disease (GERD). The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The causes of the embryological developmental anomalies leading to LC are not known but are thought to be multifactorial. LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported. The age of diagnosis depends mainly on the severity of the clinical symptoms and

  5. Primary unilateral cleft lip repair.

    Science.gov (United States)

    Adenwalla, H S; Narayanan, P V

    2009-10-01

    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.

  6. Primary unilateral cleft lip repair

    Directory of Open Access Journals (Sweden)

    Adenwalla H

    2009-10-01

    Full Text Available 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.

  7. Demographics of cleft care providers in Africa and reported experience in training and practice: direct analysis of continent-based practitioners.

    Science.gov (United States)

    Adetayo, Oluwaseun A; Martin, Mark C

    2012-05-01

    To elucidate the impact of several geographic, cultural, and socioeconomic variables on cleft care delivery in Africa, and to investigate the current status of cleft care delivery in Africa. Survey of practitioners attending the second Pan-African Congress on Cleft Lip and Palate (PACCLIP). The annual PACCLIP conference in Ibadan, Nigeria, West Africa, February 2007. To provide an analysis of the demographics and training experience of cleft care providers in Africa by collating information directly from the continent-based practitioners. Plastic surgeons and oral and maxillofacial surgeons provide the majority of cleft care. Most of the participants reported availability of formal training programs in their respective countries. The predominant practice settings were university and government-based. During training, half of the providers had encountered up to 30 cleft cases, and a quarter had managed more than 100 cases. Representation of visiting surgeons were equally distributed between African and non-African countries. This study provides initial and detailed analysis crucial to understanding the underlying framework of cleft care composition teams, demographics of providers, and training and practice experience. This awareness will further enable North American and other non-African plastic surgeons to effectively partner with African cleft care providers to have a further reaching impact in the region.

  8. Short mandible - a possible risk factor for cleft palate with/without a cleft lip

    DEFF Research Database (Denmark)

    Hermann, Nuno Vibe; Darvann, Tron Andre; Ersbøll, Bjarne Kjær

    2014-01-01

    Structured Abstract Objectives To estimate the influence of a short mandible on the risk of developing a cleft palate with/without a cleft lip (CP). Setting and sample population The retrospective sample consisted of 115 2-month-old Danish infants with CP, and 70 control infants with unilateral...... the risk of having a cleft palate. Results The mean mandibular length in the group with CP was about 4mm shorter than in the control group. Odds ratio (OR) was calculated to be 0.58 (95% confidence interval 0.48-0.68), implying that an individual's risk of cleft palate with/without a cleft lip increases...... about 50% per mm decrease in mandibular length. Conclusions A special facial type including a short mandible is a possible risk factor for cleft palate, and it was found that the risk of cleft palate increases 58% per mm decreases in mandibular length....

  9. An undescribed first branchial cleft anomaly.

    Science.gov (United States)

    Rockey, Jason Gabriel; John, D Gareth; Herbetko, John

    2003-06-01

    A variant of a type 2 first branchial cleft anomaly, in which accessory ossicles were found, is described. There follows a discussion of the classification of first branchial cleft abnormalities and how this particular case falls outside the standard classification. CT scanning is mentioned as the investigation that is most useful for defining these abnormalities.

  10. Dating brittle tectonic movements with cleft monazite

    DEFF Research Database (Denmark)

    Berger, Alfons; Gnos, E.; Janots, E.

    2013-01-01

    stress axis, which is characteristic for strike slip deformation. The inferred stress situation is consistent with observed kinematics and the opening of such clefts. Therefore, the investigated monazite-bearing cleft formed at the end of D2 and/or D3, and dextral movements along NNW dipping planes...

  11. Cleft lip and palate surgery in children: Anaesthetic considerations ...

    African Journals Online (AJOL)

    Background: The Care of cleft patients is very challenging. Team cleft care is usually lacking in many developing countries due to shortage of qualified manpower. This study is aimed at highlighting anaesthetic challenges in the management of cleft in children. Patients and Methods: This was a study of cleft lip and palate ...

  12. X-linked genes and risk of orofacial clefts

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Skare, Øivind; Lie, Rolv T

    2012-01-01

    Orofacial clefts are common birth defects of complex etiology, with an excess of males among babies with cleft lip and palate, and an excess of females among those with cleft palate only. Although genes on the X chromosome have been implicated in clefting, there has been no association analysis...

  13. Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J.; Carlson, Jenna C.; Shaffer, John R.

    2017-01-01

    Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have h...

  14. Ambulatory cleft lip surgery: A value analysis.

    Science.gov (United States)

    Arneja, Jugpal S; Mitton, Craig

    2013-01-01

    Socialized health systems face fiscal constraints due to a limited supply of resources and few reliable ways to control patient demand. Some form of prioritization must occur as to what services to offer and which programs to fund. A data-driven approach to decision making that incorporates outcomes, including safety and quality, in the setting of fiscal prudence is required. A value model championed by Michael Porter encompasses these parameters, in which value is defined as outcomes divided by cost. To assess ambulatory cleft lip surgery from a quality and safety perspective, and to assess the costs associated with ambulatory cleft lip surgery in North America. Conclusions will be drawn as to how the overall value of cleft lip surgery may be enhanced. A value analysis of published articles related to ambulatory cleft lip repair over the past 30 years was performed to determine what percentage of patients would be candidates for ambulatory cleft lip repair from a quality and safety perspective. An economic model was constructed based on costs associated with the inpatient stay related to cleft lip repair. On analysis of the published reports in the literature, a minority (28%) of patients are currently discharged in an ambulatory fashion following cleft lip repair. Further analysis suggests that 88.9% of patients would be safe candidates for same-day discharge. From an economic perspective, the mean cost per patient for the overnight admission component of ambulatory cleft surgery to the health care system in the United States was USD$2,390 and $1,800 in Canada. The present analysis reviewed germane publications over a 30-year period, ultimately suggesting that ambulatory cleft lip surgery results in preservation of quality and safety metrics for most patients. The financial model illustrates a potential cost saving through the adoption of such a practice change. For appropriately selected patients, ambulatory cleft surgery enhances overall health care value.

  15. Dimensions of the cleft nasal airway in adults: a comparison with subjects without cleft.

    Science.gov (United States)

    Hairfield, W M; Warren, D W

    1989-01-01

    The prevalence of mouthbreathing among individuals with cleft lip and palate is significantly higher than in the normal population. This has been attributed to nasal deformities that tend to reduce nasal airway size. The purpose of the present study was to determine how a heterogeneous adult group with cleft lip and palate differs in terms of nasal airway cross-sectional area from an adult group without cleft during the inspiratory and expiratory phases of breathing. The pressure-flow technique was used to estimate nasal airway size in 15 adults without cleft (15 years or older) and 37 adults with cleft lip, cleft palate, or both. Mean areas and standard deviations for subjects without cleft were 0.63 cm2 +/- 0.17 during inspiration and 0.56 cm2 +/- 0.14 during expiration. This difference is statistically significant (p less than 0.01). Mean areas and standard deviations for all subjects with cleft were 0.37 cm2 +/- 0.18 during inspiration and 0.40 cm2 +/- 0.20 during expiration. This difference is not statistically significant (p greater than 0.15). Twenty-two of the subjects with cleft had nasal areas considered to be impaired (below 0.40 cm2) as compared with only three of the subjects without cleft. A two factor analysis of variance (ANOVA) demonstrated that area changes during respiration are different for subjects with and without cleft (p less than 0.005), and that cleft nasal areas are smaller than noncleft areas for both phases of breathing (p less than 0.001). Inspiratory-expiratory differences between subjects with and without cleft are probably the result of developmental defects, reparative surgery or both.(ABSTRACT TRUNCATED AT 250 WORDS)

  16. Prevalence and Parental Risk Factors for Speech Disability Associated with Cleft Palate in Chinese Children—A National Survey

    Science.gov (United States)

    Yun, Chunfeng; Wang, Zhenjie; He, Ping; Guo, Chao; Chen, Gong; Zheng, Xiaoying

    2016-01-01

    Although the prevalence of oral clefts in China is among the highest worldwide, little is known about the prevalence of speech disability associated with cleft palate in Chinese children. The data for this study were collected from the Second China National Sample Survey on Disability, and identification of speech disability associated with cleft palate was based on consensus manuals. Logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs). A weighted number of 112,070 disabled children affected by cleft palate were identified, yielding a prevalence of 3.45 per 10,000 children (95% CI: 3.19–3.71). A history of speech disability in the mother (OR = 20.266, 95% CI 5.788–70.959, p cleft palate in the offspring. Our results showed that maternal speech disability, older paternal child-bearing age, and lower levels of parental education were independent risk factors for speech disability associated with cleft palate for children in China. These findings may have important implications for health disparities and prevention. PMID:27886104

  17. Speech outcome in unilateral complete cleft lip and palate patients: a descriptive study.

    Science.gov (United States)

    Rullo, R; Di Maggio, D; Addabbo, F; Rullo, F; Festa, V M; Perillo, L

    2014-09-01

    In this study, resonance and articulation disorders were examined in a group of patients surgically treated for cleft lip and palate, considering family social background, and children's ability of self monitoring their speech output while speaking. Fifty children (32 males and 18 females) mean age 6.5 ± 1.6 years, affected by non-syndromic complete unilateral cleft of the lip and palate underwent the same surgical protocol. The speech level was evaluated using the Accordi's speech assessment protocol that focuses on intelligibility, nasality, nasal air escape, pharyngeal friction, and glottal stop. Pearson product-moment correlation analysis was used to detect significant associations between analysed parameters. A total of 16% (8 children) of the sample had severe to moderate degree of nasality and nasal air escape, presence of pharyngeal friction and glottal stop, which obviously compromise speech intelligibility. Ten children (10%) showed a barely acceptable phonological outcome: nasality and nasal air escape were mild to moderate, but the intelligibility remained poor. Thirty-two children (64%) had normal speech. Statistical analysis revealed a significant correlation between the severity of nasal resonance and nasal air escape (p ≤ 0.05). No statistical significant correlation was found between the final intelligibility and the patient social background, neither between the final intelligibility nor the age of the patients. The differences in speech outcome could be explained with a specific, subjective, and inborn ability, different for each child, in self-monitoring their speech output.

  18. Genetic determination of human facial morphology: links between cleft-lips and normal variation.

    Science.gov (United States)

    Boehringer, Stefan; van der Lijn, Fedde; Liu, Fan; Günther, Manuel; Sinigerova, Stella; Nowak, Stefanie; Ludwig, Kerstin U; Herberz, Ruth; Klein, Stefan; Hofman, Albert; Uitterlinden, Andre G; Niessen, Wiro J; Breteler, Monique M B; van der Lugt, Aad; Würtz, Rolf P; Nöthen, Markus M; Horsthemke, Bernhard; Wieczorek, Dagmar; Mangold, Elisabeth; Kayser, Manfred

    2011-11-01

    Recent genome-wide association studies have identified single nucleotide polymorphisms (SNPs) associated with non-syndromic cleft lip with or without cleft palate (NSCL/P), and other previous studies showed distinctly differing facial distance measurements when comparing unaffected relatives of NSCL/P patients with normal controls. Here, we test the hypothesis that genetic loci involved in NSCL/P also influence normal variation in facial morphology. We tested 11 SNPs from 10 genomic regions previously showing replicated evidence of association with NSCL/P for association with normal variation of nose width and bizygomatic distance in two cohorts from Germany (N=529) and the Netherlands (N=2497). The two most significant associations found were between nose width and SNP rs1258763 near the GREM1 gene in the German cohort (P=6 × 10(-4)), and between bizygomatic distance and SNP rs987525 at 8q24.21 near the CCDC26 gene (P=0.017) in the Dutch sample. A genetic prediction model explained 2% of phenotype variation in nose width in the German and 0.5% of bizygomatic distance variation in the Dutch cohort. Although preliminary, our data provide a first link between genetic loci involved in a pathological facial trait such as NSCL/P and variation of normal facial morphology. Moreover, we present a first approach for understanding the genetic basis of human facial appearance, a highly intriguing trait with implications on clinical practice, clinical genetics, forensic intelligence, social interactions and personal identity.

  19. Cellular alterations and enhanced induction of cleft palate after coadministration of retinoic acid and TCDD

    International Nuclear Information System (INIS)

    Abbott, B.D.; Birnbaum, L.S.

    1989-01-01

    2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) and retinoic acid (RA) are both teratogenic in mice. TCDD is a highly toxic, stable environmental contaminant, while RA is a naturally occurring form of vitamin A. Exposure to TCDD induces hydronephrosis and cleft palate, and exposure to RA induces limb defects and cleft palate. Teratology studies previously have shown that the incidence of clefting is higher after exposure to RA + TCDD than would be observed for the same doses of either compound given alone. This study examines the cellular effects which result in cleft palate, after po administration on gestation Day (GD) 10 or 12 of RA + TCDD in corn oil (10 ml/kg total volume). Exposure on GD 10 to 6 micrograms TCDD + 40 mg RA/kg inhibited early growth of the shelves and clefting was due to a failure of shelves to meet and fuse. This effect on mesenchyme was observed in previous studies to occur after exposure on GD 10 to 40 mg/kg RA alone, but not after TCDD alone. After exposure on GD 12 to 6 micrograms TCDD + 80 mg RA/kg, clefting was due to a failure of shelves to fuse after making contact, because the medial cells differentiated into an oral-like epithelium. This response was observed in previous studies to occur after exposure to TCDD alone, but RA alone on GD 12 resulted in differentiation toward nasal-like cells. The interaction between TCDD and RA results in RA-like clefting after exposure on GD 10 and TCDD-like clefting after exposure on GD 12, and this clefting occurs at higher incidences than would occur after the same levels of either agent alone. After exposure on either GD 10 or 12 to RA + TCDD, the programmed cell death of the medial cells does not occur, and these cells continue to express EGF receptors and to bind 125I-EGF. The effects of RA and TCDD may involve modulation of the cells responses to embryonic growth and differentiation factors

  20. Evaluation of 5-year-old children with complete cleft lip and palate: Multicenter study. Part 1: Lip and nose aesthetic results.

    Science.gov (United States)

    Dissaux, Caroline; Bodin, Frédéric; Grollemund, Bruno; Picard, Arnaud; Vazquez, Marie-Paule; Morand, Béatrice; James, Isabelle; Kauffmann, Isabelle; Bruant-Rodier, Catherine

    2015-12-01

    Cleft surgery is marked by all the controversies and the multiplication of protocols, as it has been shown by the Eurocleft study. The objective of this pilot study is to start a comparison and analyzing procedure between primary surgical protocols in French centers. Four French centers with different primary surgical protocols for cleft lip and palate repair, have accepted to be involved in this retrospective study. In each center, 20 consecutive patients with complete cleft lip and palate (10 UCLP and 10 BCLP per center), non syndromic, have been evaluated at a mean age of 5 [4,6]. In this first part, the aesthetic results of nose and lip repair were assessed based on the scale established by Mortier et al. (1997). Considering nose outcome, primary cleft repair surgery including a nasal dissection gives a statistically significant benefit in terms of septum deviation. Considering lip result, muscular dehiscence rate is significantly higher in BCLP patients with a two-stage lip closure. The centers using Millard one-stage lip closure do not have uniform results. For UCLP patients, the quality of scar is not statistically different between Skoog and Millard techniques. Primary results based on a simple, reproducible evaluation protocol. Extension to other centers required. Therapeutic study. Level III/retrospective multicenter comparative study. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  1. Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate: 10. Parental perceptions of appearance and treatment outcomes in their 5-year-old child.

    Science.gov (United States)

    Feragen, Kristin Billaud; Semb, Gunvor; Heliövaara, Arja; Lohmander, Anette; Johannessen, Emma Christine; Boysen, Betty Marie; Havstam, Christina; Lundeborg, Inger; Nyberg, Jill; Pedersen, Nina-Helen; Bogh-Nielsen, Joan; Eyres, Philip; Bradbury, Eileen; Rumsey, Nichola

    2017-02-01

    Few studies have explored children's emotional and behavioural reactions to cleft surgery and treatment-related stress. The objective was to investigate parents' evaluations of appearance and treatment outcomes in their 5-year-old child with unilateral cleft lip and palate (UCLP), and their perceptions of how their child was coping with treatment, comparing this information with recorded postsurgical complications. Three parallel group randomised clinical trials were undertaken as an international multicentre study by 10 cleft teams in five countries: Denmark, Finland, Sweden, Norway, and the UK. Three different surgical procedures for primary palatal repair were tested against a common procedure in the total cohort of 448 children born with a non-syndromic UCLP. A total of 356 parents completed the Scandcleft Parent Questionnaire, and 346 parents completed the Cleft Evaluation Profile. The results indicated that the majority of parents were satisfied with cleft-related features of their child's appearance. Further, most children coped well with treatment according to their parents. Nevertheless, 17.5% of the children showed minor or short-term reactions after treatment experiences, and 2% had major or lasting difficulties. There were no significant relationships between parent perceptions of treatment-related problems and the occurrence of post-surgical medical complications. Most parents reported satisfaction with their child's appearance. However, treatment-related problems were described in some children, urging cleft centres to be aware of potential negative emotional and behavioural reactions to treatment in some young children, with a view to preventing the development of more severe treatment-related anxiety. ISRCTN29932826.

  2. Fissuras lábio palatinas não sindrômicas: relação entre o sexo e a extensão clínica Non sindromic cleft lip and palate: relationship between sex and clinical extension

    Directory of Open Access Journals (Sweden)

    Daniella Reis Barbosa Martelli

    2012-10-01

    Full Text Available A fenda labial e/ou palatina representa a anomalia congênita mais comum na face. OBJETIVO: Descrever a correlação existente entre a fenda labial e/ou palatina não sindrômica e gênero e sua gravidade na população brasileira. MÉTODO: Estudo transversal, conduzido entre 2009 e 2011, em uma amostra de 366 pacientes. Os dados foram analisados com estatística descritiva e regressão logística multinomial com intervalo de 95% para estimar a probabilidade dos tipos de fenda labial e/ou palatina afetar os gêneros. RESULTADOS: Entre os 366 casos de fenda labial e/ou palatina não sindrômica, as fendas mais frequentes foram a fenda lábio-palatina, seguida, respectivamente, pela fenda labial e fenda palatina. As fendas palatinas foram mais frequentes entre as mulheres e a fenda lábio-palatina e fenda labial apenas predominaram nos homens. O risco de fenda labial em relação à fenda palatina foi de 2,19 vezes maior em homens quando comparados às mulheres; enquanto o risco de fenda labial e palatina em relação à fenda palatina apenas foi 2,78 vezes em homens, quando comparados às mulheres. CONCLUSÃO: Este estudo mostrou que há diferenças na distribuição de fendas labiais e/ou palatinas não sindrômicas entre homens e mulheres.Cleft lip and/or palate represent the most common congenital anomaly of the face. AIM: To describe the correlation between non-syndromic cleft lip and/or palate and gender, and its severity in the Brazilian population. METHODS: Cross-sectional study, between 2009 and 2011, in a sample of 366 patients. The data was analyzed with descriptive statistics and multinomial logistic regression with a 95% interval to estimate the likelihood of the types of cleft lip and/or palate affecting the genders. RESULTS: Among the 366 cases of non-syndromic cleft lip and/or palate, the more frequent clefts were cleft lip and palate, followed respectively by cleft lip and cleft palate. The cleft palates were more frequent in

  3. Comparing caries risk profiles between 5- and 10- year-old children with cleft lip and/or palate and non-cleft controls.

    Science.gov (United States)

    Sundell, Anna Lena; Ullbro, Christer; Marcusson, Agneta; Twetman, Svante

    2015-07-25

    Previous studies have suggested that children with oral clefts may have higher caries prevalence in comparison with non-cleft controls but the relative importance of the potential risk factors is not clear. The aim of this study was to compare the caries risk profiles in a group of cleft lip and/or palate (CL(P)) children with non-cleft controls in the same age using a computerized caries risk assessment model. The study group consisted of 133 children with CL(P) (77 subjects aged 5 years and 56 aged 10 years) and 297 non-cleft controls (133 aged 5 years and 164 aged 10 years). A questionnaire was used to collect data concerning the child's oral hygiene routines, dietary habits and fluoride exposure. Oral hygiene was assessed using Quigley-Hein plaque Index and the caries prevalence and frequency was scored according to the International Caries Detection and Assessment System. Whole saliva samples were analyzed for mutans streptococci, lactobacilli, buffering capacity and secretion rate. The risk factors and risk profiles were compared between the groups with aid of Cariogram and the estimated risk for future caries was categorized as "high" or "low". Children with CL(P) (the entire study group) had significantly higher counts of salivary lactobacilli (p < 0.05) and displayed less good oral hygiene (p < 0.05). More 10-year-old children in the CL(P) group had low secretion rate but this difference was not significant. The average chance to avoid caries ranged from 59 to 67% but there were no significant differences between the groups. The odds of being categorized with high caries risk in the CL(P) group was significantly elevated (OR = 1.89; 95% CI = 1.25-2.86). In both groups, children in the high risk category had a higher caries experience than those with low risk. Children with CL(P) displayed increased odds of being categorized at high caries risk with impaired oral hygiene and elevated salivary lactobacilli counts as most influential factors. The results

  4. Aspiration pneumonia in patients with cleft palate

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Seung Hun; Choi, Yo Won; Jeon, Seok Chol; Park, Choong Ki; Uhm, Ki Il [Hanyang University College of Medicine, Seoul (Korea, Republic of)

    2003-03-01

    To assess the incidence of aspiration pneumonia in infants with cleft palate and to compare the incidence between complete and incomplete types of cleft palate. A review of medical records revealed 100 infants who had undergone initial surgery to repair cleft palate in our hospital during a recent three-year period. Aspiration pneumonia was defined as the coexistence of pneumonia at chest radiography with a history of frequent choking during feeding. The anatomic distribution of aspiration pneumonia was analyzed, and the incidences of aspiration pneumonia in infants with complete and incomplete cleft palate were compared. Among 100 children, aspiration pneumonia was found in 35 (35%). Those with complete and incomplete cleft palate showed similar incidences of the condition (27 of 70 [39%] vs 8 of 30 [27%], p=0.36). Pneumonia was most commonly seen in the left lower lobe (11 of 35), followed by the right upper and lower lobes. Aspiration pneumonia is frequently associated with infants with cleft palate. There is no statistical difference in the incidence of aspiration pneumonia between the complete and the incomplete cleft palate group.

  5. Aspiration pneumonia in patients with cleft palate

    International Nuclear Information System (INIS)

    Lee, Seung Hun; Choi, Yo Won; Jeon, Seok Chol; Park, Choong Ki; Uhm, Ki Il

    2003-01-01

    To assess the incidence of aspiration pneumonia in infants with cleft palate and to compare the incidence between complete and incomplete types of cleft palate. A review of medical records revealed 100 infants who had undergone initial surgery to repair cleft palate in our hospital during a recent three-year period. Aspiration pneumonia was defined as the coexistence of pneumonia at chest radiography with a history of frequent choking during feeding. The anatomic distribution of aspiration pneumonia was analyzed, and the incidences of aspiration pneumonia in infants with complete and incomplete cleft palate were compared. Among 100 children, aspiration pneumonia was found in 35 (35%). Those with complete and incomplete cleft palate showed similar incidences of the condition (27 of 70 [39%] vs 8 of 30 [27%], p=0.36). Pneumonia was most commonly seen in the left lower lobe (11 of 35), followed by the right upper and lower lobes. Aspiration pneumonia is frequently associated with infants with cleft palate. There is no statistical difference in the incidence of aspiration pneumonia between the complete and the incomplete cleft palate group

  6. Implementing the Brazilian Database on Orofacial Clefts

    Directory of Open Access Journals (Sweden)

    Isabella Lopes Monlleó

    2013-01-01

    Full Text Available 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.

  7. Surgical repair of large cyclodialysis clefts.

    Science.gov (United States)

    Gross, Jacob B; Davis, Garvin H; Bell, Nicholas P; Feldman, Robert M; Blieden, Lauren S

    2017-05-11

    To describe a new surgical technique to effectively close large (>180 degrees) cyclodialysis clefts. Our method involves the use of procedures commonly associated with repair of retinal detachment and complex cataract extraction: phacoemulsification with placement of a capsular tension ring followed by pars plana vitrectomy and gas tamponade with light cryotherapy. We also used anterior segment optical coherence tomography (OCT) as a noninvasive mechanism to determine the extent of the clefts and compared those results with ultrasound biomicroscopy (UBM) and gonioscopy. This technique was used to repair large cyclodialysis clefts in 4 eyes. All 4 eyes had resolution of hypotony and improvement of visual acuity. One patient had an intraocular pressure spike requiring further surgical intervention. Anterior segment OCT imaging in all 4 patients showed a more extensive cleft than UBM or gonioscopy. This technique is effective in repairing large cyclodialysis clefts. Anterior segment OCT more accurately predicted the extent of each cleft, while UBM and gonioscopy both underestimated the size of the cleft.

  8. Bony defect of palate and vomer in submucous cleft palate patients.

    Science.gov (United States)

    Ren, S; Ma, L; Zhou, X; Sun, Z

    2015-01-01

    The aim of this study was to visualize bony defects of the palate and vomer in submucous cleft palate patients (SMCP) by three-dimensional (3D) computed tomography (CT) reconstruction and to classify the range of bony defects. Forty-eight consecutive non-operated SMCP patients were included. Diagnosis was based on the presence of at least one of three classical signs of SMCP: bifid uvula, a translucent zone in the midline of the soft palate, and a palpable 'V' notch on the posterior border of the bony palate. Patients were imaged using spiral CT. 3D reconstruction models were created of the palate and vomer. The sagittal extent of the bony cleft in SMCP was classified into four types: type I, no V-shaped hard palate cleft (8.3%); type II, cleft involving the partial palate (43.8%); type III, cleft involving the complete palate and extending to the incisive foramen (43.8%); type IV, cleft involving the complete palate and the alveolar bone (4.2%). The extent of the vomer defect was classified into three types: type A, vomer completely fused with the palate (8.3%); type B, vomer partially fused with the palate (43.8%); type C, vomer not fused with the palate up to the incisive foramen (47.9%). Significant variability in hard palate defects in SMCP is the rule rather than the exception. The association of velopharyngeal insufficiency with anatomical malformations may be complex. Copyright © 2014 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  9. Panel perception of facial appearance of cleft patients generated by use of a morphing technique.

    Science.gov (United States)

    Yildirim, Vedat; Hemprich, Alexander; Gründl, Martin; Pausch, Niels Christian

    2014-09-01

    Perception of the facial appearance of cleft patients has, until now, been evaluated on the basis of photographs of the patients. Research based on photographs generated by use of a morphing technique has not yet been reported. The purpose of this study was to investigate female and male raters' panel perception with regard to the following: (1) patient age, (2) attractiveness, (3) gender appearance, and (4) likeability of faces of cleft patients generated by the use of a morphing technique. The study was conducted at the Department of Oral, Craniomaxillofacial and Facial Plastic Surgery, University Hospital of Leipzig, Germany. We used photographs of 32 adult German nonsyndromic cleft patients, mean age 18.9 ± 1.3 years, and surveyed 93 students, mean age 25.3 ± 3.2 years, by use of a standardized questionnaire. All respondents rated the mean age of cleft patients equally in unmorphed and morphed pictures. For all respondents, attractiveness of morphed patient pictures was rated significantly higher than for unmorphed pictures (mean 4.8 ± 1.0 vs. 6.4 ± 2.4; p morphed pictures of eight patients were rated. Female respondents rated attractiveness significantly higher than did males, especially for pictures of female patients. Facial morphing of patient pictures is a suitable method for creation of standard cleft faces. Despite the modification of the pictures, the faces generated remain human and assessable by panel members. Perception of faces of cleft patients' depended on raters' gender.

  10. Magnetic resonance imaging of cleft palate

    Energy Technology Data Exchange (ETDEWEB)

    Naito, Yasushi; Tasaka, Yasuyuki; Honjo, Iwao; Nishimura, Kazumasa; Nakano, Yoshihisa

    1987-03-01

    Magnetic resonance imaging (MRI) of the nasopharynx and the eustachian tube was performed in five patients with cleft palate and compared with the results of those without this anomaly. Various degrees of deformity of the eustachian tube cartilage were found in cleft palate patients. The levator veli palatini muscles were situated more laterally in cleft palate patients than in normal subjects. Also, changes in the position of these muscles after palatoplasty were clearly depicted by MRI. Besides several autopsy reports, this is the first demonstration of the characteristic anomaly around the eustachian tube by a non-invasive method.

  11. Branchial cleft cyst encircling the hypoglossal nerve

    Science.gov (United States)

    Long, Kristin L.; Spears, Carol; Kenady, Daniel E.

    2013-01-01

    Branchial cleft anomalies are a common cause of lateral neck masses and may present with infection, cyst enlargement or fistulas. They may affect any of the nearby neck structures, causing compressive symptoms or vessel thrombosis. We present a case of a branchial cleft cyst in a 10-year-old boy who had been present for 1year. At the time of operation, the cyst was found to completely envelop the hypoglossal nerve. While reports of hypoglossal nerve palsies due to external compression from cysts are known, we believe this to be the first report of direct nerve involvement by a branchial cleft cyst. PMID:24963902

  12. Preoperative Cleft Lip Measurements and Maxillary Growth in Patients With Unilateral Cleft Lip and Palate.

    Science.gov (United States)

    Antonarakis, Gregory S; Tompson, Bryan D; Fisher, David M

    2016-11-01

    Maxillary growth in patients with cleft lip and palate is highly variable. The authors' aim was to investigate associations between preoperative cleft lip measurements and maxillary growth determined cephalometrically in patients with complete unilateral cleft lip and palate (cUCLP). Retrospective cross-sectional study. Children with cUCLP. Preoperative cleft lip measurements were made at the time of primary cheiloplasty and available for each patient. Maxillary growth was evaluated on lateral cephalometric radiographs taken prior to any orthodontic treatment and alveolar bone grafting (8.5 ± 0.7 years). The presence of associations between preoperative cleft lip measurements and cephalometric measures of maxillary growth was determined using regression analyses. In the 58 patients included in the study, the cleft lateral lip element was deficient in height in 90% and in transverse width in 81% of patients. There was an inverse correlation between cleft lateral lip height and transverse width with a β coefficient of -0.382 (P = .003). Patients with a more deficient cleft lateral lip height displayed a shorter maxillary length (β coefficient = 0.336; P = .010), a less protruded maxilla (β coefficient = .334; P = .008), and a shorter anterior maxillary height (β coefficient = 0.306; P = .020) than those with a less deficient cleft lateral lip height. Patients with cUCLP present with varying degrees of lateral lip hypoplasia. Preoperative measures of lateral lip deficiency are related to later observed deficiencies of maxillary length, protrusion, and height.

  13. Prevalence of cleft lip and cleft palate in rural north-central guatemala.

    Science.gov (United States)

    Matute, Jorge; Lydick, Elaine A; Torres, Olga R; Owen, Karen K; Jacobsen, Kathryn H

    2015-05-01

    To estimate the number of new cases of cleft lip and cleft palate in the department (state) of Alta Verapaz, Guatemala, in 2012. Cross-sectional survey of midwives from communities identified through a two-stage cluster-sampling process. Midwives were asked how many babies they had delivered in the past year and how many of those newborns had various types of birth defects, as illustrated in pictures. Indigenous Mayan communities in rural north-central Guatemala. Midwives (n = 129) who had delivered babies in the previous year. Reports of babies born with cleft lip and cleft palate. A 1-year prevalence rate of 18.9 per 10,000 for cleft lip and 4.7 per 10,000 for cleft palate was estimated for Alta Verapaz. None of the cases of cleft lip also had cleft palate. The indigenous communities in north-central Guatemala might have a relatively high cleft lip prevalence rate compared with the global average.

  14. Factors prognostic for phonetic development after cleft palate repair.

    Science.gov (United States)

    Lee, Joon Seok; Kim, Jae Bong; Lee, Jeong Woo; Yang, Jung Dug; Chung, Ho Yun; Cho, Byung Chae; Choi, Kang Young

    2015-10-01

    Palatoplasty is aimed to achieve normal speech, improve food intake, and ensure successful maxillary growth. However, the velopharyngeal function is harder to control than other functions. Therefore, many studies on the prognostic factor of velopharyngeal insufficiency have been conducted. This study aimed to evaluate the relationships between speech outcomes and multimodality based on intraoral and preoperative three-dimensional computerized tomographic (CT) findings. Among 73 children with cleft palate who underwent palatoplasty between April 2011 and August 2014 at Kyungpook National University Hospital (KNUH), 27 were retrospectively evaluated. The 27 cases were non-syndromic, for which successful speech evaluation was conducted by a single speech-language pathologist (Table 1). Successful speech evaluation was defined as performing the test three times in 6-month intervals. Three intraoral parameters were measured before and immediately after operation (Fig. 1). On axial- and coronal-view preoperative facial CT, 5 and 2 different parameters were analyzed, respectively (Figs. 2 and 3). Regression analysis (SPSS IBM 22.0) was used in the statistical analysis. Two-flap palatoplasty and Furlow's double opposing Z-plasty were performed in 15 and 12 patients, respectively. The operation was performed 11 months after birth on average. Children with a higher palatal arch and wider maxillary tuberosity distance showed hypernasality (p palate width and height, rather than initial diagnosis, treatment method, or palate length. Therefore, a more active intervention is needed, such as orthopedic appliance, posterior pharyngeal wall augmentation, or early speech training. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  15. Relation between a first branchial cleft anomaly and the facial nerve.

    Science.gov (United States)

    Guo, Yu-Xing; Guo, Chuan-Bin

    2012-04-01

    Relations between first branchial cleft anomalies and the facial nerve vary. We reviewed 41 patients' medical records and pathological sections to clarify the relation, and found that those on the right side in young patients, which were Work type II and situated low down, were likely to be deep to the facial nerve. Copyright © 2011 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

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

    Science.gov (United States)

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

    2016-01-01

    Individuals with nonsyndromic 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. 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. 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, pdental 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.

  17. Evidence-based medicine: cleft palate.

    Science.gov (United States)

    Chepla, Kyle J; Gosain, Arun K

    2013-12-01

    After reading this article, the participant should be able to: 1. Describe recent changes in treatment of cleft palate. 2. Compare the efficacy of different surgical treatments. 3. Assess their own knowledge of cleft palate repair. 4. Determine where further individual in-depth study and development are warranted. The Maintenance of Certification in Plastic Surgery series is designed to ensure professional development and measure continued competency within a specialty or subspecialty. The present article provides an evaluation of the interval studies regarding the management of cleft palate with a specific focus on craniofacial growth, speech outcomes, and obstructive sleep apnea since the last Maintenance of Certification in Plastic Surgery article on the subject published in 2010. This purpose of this article is to update plastic and craniomaxillofacial surgeons on recent changes in treatment of cleft palate, provide a means for accurate self-assessment, and guide further individual in-depth study and development.

  18. First branchial cleft anomalies: avoiding the misdiagnosis.

    Science.gov (United States)

    Kumar, Rajeev; Sikka, Kapil; Sagar, Prem; Kakkar, Aanchal; Thakar, Alok

    2013-07-01

    First branchial cleft anomalies are a very rare entities accounting for less than 1 % of all branchial cleft malformations. They are often misdiagnosed for other cystic lesions occurring in parotid gland and inadequately treated (incision and drainage or incomplete excision) leading to multiple recurrences. We report a series of four patients who were previously operated (incision and drainage) for misdiagnosed first branchial cleft anomalies with subsequent recurrences. All patients underwent superficial parotidectomy with complete tract excision using facial nerve monitoring to prevent iatrogenic injury because of extensive fibrosis. We discuss the literature pertaining to first branchial cleft anomalies, their varied presentations and their relationship to facial nerve in parotid gland and importance of facial nerve monitoring in revision surgery.

  19. Cleft Lip and Palate (For Parents)

    Science.gov (United States)

    ... Things That Help Feelings Expert Answers Q&A Movies & More for Teens Teens site Sitio para adolescentes ... spite of these and other social, psychological, and educational challenges, kids with clefts just want to be ...

  20. Second branchial cleft cyst of the oropharynx

    International Nuclear Information System (INIS)

    Paik, Sang Hyun; Kim, Hyun Sook; Moon Seung Il; Choi, Yun Sun; Cho, Jae Min; Cho, Sung Bum; Yoon, Sook Ja; Kim, Dai Hong; Yoon, Yong Kyu

    2001-01-01

    We report a very rare type of second branchial cleft cyst located at the oropharynx, and include a review of the literature. CT scans of the neck revealed a homogeneous non-enhancing low-density mass in the right posterolateral mucosal wall of the oropharynx. Only the peripheral capsule of the mass was enhanced. The cyst was resected perorally and proved to be a type-IV second branchial cleft cyst

  1. Second branchial cleft cyst of the oropharynx

    Energy Technology Data Exchange (ETDEWEB)

    Paik, Sang Hyun; Kim, Hyun Sook; Moon Seung Il; Choi, Yun Sun; Cho, Jae Min; Cho, Sung Bum; Yoon, Sook Ja; Kim, Dai Hong; Yoon, Yong Kyu [Eulji Univ. School of Medicine, Seoul (Korea, Republic of)

    2001-06-01

    We report a very rare type of second branchial cleft cyst located at the oropharynx, and include a review of the literature. CT scans of the neck revealed a homogeneous non-enhancing low-density mass in the right posterolateral mucosal wall of the oropharynx. Only the peripheral capsule of the mass was enhanced. The cyst was resected perorally and proved to be a type-IV second branchial cleft cyst.

  2. Prevalence of dental anomalies in children with cleft lip and unilateral and bilateral cleft lip and palate.

    Science.gov (United States)

    Rullo, R; Festa, V M; Rullo, R; Addabbo, F; Chiodini, P; Vitale, M; Perillo, L

    2015-09-01

    To examine the prevalence of different types of dental anomalies in children with nonsyndromic cleft lip, unilateral cleft lip-palate, and bilateral cleft lip-palate. A sample of 90 patients (aged 4-20 years) affected by isolated cleft lip, unilateral and bilateral cleft lip and palate was examined. Cleft patients were classified into one of three groups according to cleft type: (1) Unilateral Cleft Lip-Palate, (2) Bilateral Cleft Lip-Palate, and (3) Cleft Lip. Intraoral exams, panoramic radiographs and dental casts, were used to analyse the prevalence of the various dental anomalies included in this study. There were no statistically significant differences between patients with cleft lip, unilateral cleft lip and palate and bilateral cleft lip and palate. The congenital absence of the cleft-side lateral incisor was observed in 40% of the sample, and a total of 30% patients showed supernumerary teeth at the incisors region. Second premolar agenesis was found in 4.4% of patients, whereas in 18.9% of the sample there was an ectopic dental eruption. Lateral or central incisors rotation was noted in 31.1% of the sample, while shape anomaly, lateral incisor microdontia, and enamel hypoplasia were detected respectively in 25.6%, 5.6% and 18.9% of cleft patients. High prevalence of different dental anomalies in children with cleft lip and unilateral and bilateral cleft lip and palate has been confirmed. This study, in particular, shows the presence of ectopic and rotated teeth in the cleft area.

  3. Children's and adolescent's perspectives on cleft lip and/or palate.

    Science.gov (United States)

    Hall, Melanie J; Gibson, Barry J; James, Allison; Rodd, Helen D

    2013-03-01

    Children's voices are being increasingly acknowledged in health care research. The aim of this study was to explore children's and young people's perspectives of being born with a cleft lip and/or palate. The research took a qualitative approach that consisted of two interviews with each child, drawing on child-centered methodologies and techniques. The initial interview focused on children's general life stories, and these often encompassed a discussion about cleft lip and/or palate. The follow-up interview explored specific aspects of the condition and related treatment. The self-selected sample consisted of 17 children and young people (eight boys, nine girls) with cleft lip and/or palate, aged 8 to 17 years, who received treatment at a dental hospital in the U.K. Children's and young people's accounts identified a number of themes including how they became aware that they had been born with the condition, their views of the treatment pathway, and how it related to who they are. This study highlights the value of including young people's perspectives in oral health-related research. It has allowed a deeper insight into cleft lip and palate and shows that young people can contribute their views and experiences about services which demonstrate that these could be incorporated into service evaluations.

  4. Comparison of Hyoid Bone Position Among Cleft Lip Palate and Normal Subjects

    International Nuclear Information System (INIS)

    Wahaj, A.; Erum, G.; Ahmed, I.

    2014-01-01

    Objective: To compare the hyoid bone position between cleft lip/palate and normal patients. Study Design: Cross-sectional analytical study. Place and Duration of Study: Dr. Ishrat-ul-Ebad Khan Institute of Oral Health Sciences (DIEKIOHS), Dow University of Health Sciences (DUHS), Karachi, from March 2012 to February 2013. Methodology: The sample for this study consisted of total 68 subjects among which Group 1 consisted of 34 nonsyndromic cleft lip and palate (both unilateral and bilateral) and Group 2 included 34 subjects with normal facial morphology. Both groups included males and females with mean age 14.3 +- 0.1 year. Analysis was done on lateral cephalometric radiographs of patients including angulations taken as Hp-Mp, Hp-Ol, Hp-Sn, Cvt-Evt, Opt-Cvt, Nke, Sn-Vert, Cvt-Vert, Sn-Vert and linear distance of hyoid bone measured as C3-H, C3-RGN, and H-RGN. Results: Statistically significant differences (p < 0.001) in C3-H, C3-Rgn, H-Rgn, and Sn-Cvt were found between cleft lip/palate group and normal group. Conclusion: Hyoid bone is located anteriorly and caudally in cleft lip and palate group. (author)

  5. Cleft sidedness and congenitally missing teeth in patients with cleft lip and palate patients

    Directory of Open Access Journals (Sweden)

    Abdolreza Jamilian

    2016-05-01

    Full Text Available Abstract Background The aim of this study was to investigate the prevalence of cleft sidedness, and the number of congenitally missing teeth in regard to cleft type and gender. Methods The charts, models, radiographs, and intraoral photographs of 201 cleft patients including 131 males with the mean age of 12.3 ± 4 years and 70 females with the mean age of 12.6 ± 3.9 years were used for the study. T test, Chi-square, and binomial tests were used for assessment of the data. Results and conclusions One hundred forty-eight of the subjects suffered from cleft lip and palate followed by 41 subjects who suffered from cleft lip and alveolus. Chi-square test did not show any significant difference between the genders. Binomial test showed that left-sided cleft was more predominant in unilateral cleft lip and palate patients (P < 0.001. This study also showed that the upper lateral incisors were the most commonly missing teeth in the cleft area.

  6. Dental fear in children with a cleft lip and/or cleft Palate

    NARCIS (Netherlands)

    Vogels, W.E.J.C.; Aartman, I.H.A.; Veerkamp, J.S.J.

    2011-01-01

    Objective: To assess the level of dental fear in children with a cleft lip and/or palate, to compare this level with that of a normative group testing the hypothesis that children with a cleft lip and/or palate have a higher level of dental anxiety than children from the general population, and to

  7. Lower incidence of nonsyndromic cleft lip with or without cleft palate ...

    Indian Academy of Sciences (India)

    2016-08-26

    Aug 26, 2016 ... In India, as in other parts of the world, nonsyndromic cleft lip with or without cleft palate (NSCL±P) is a highly prevalent birth defect, its incidence in males being twice that in females. A case–control association study has been carried out with respect to homocysteine level and MTHFR C677T, A1298C and ...

  8. Non syndromic Pierre Robin sequence: On the lookout for breathing difficulty

    Directory of Open Access Journals (Sweden)

    Meryl S Parekkat

    2012-01-01

    Full Text Available A full-term vigorous baby male, was born at term. His micrognathia and cleft palate were immediately apparent but there was no clinical evidence of upper airway obstruction. Feeding was commenced with no initial problems. Prior to discharge on day 7 he was reviewed and found to be well and without upper airway obstruction. On day 42 of life he arrived with failure to thrive.

  9. Multiple keratocystic odontogenic tumors in a non-syndromic minor patient: Report of an unusual case

    Directory of Open Access Journals (Sweden)

    Shalu Rai

    2013-01-01

    Full Text Available Keratocystic odontogenic tumor (KCOT is developmental odontogenic cysts of epithelial origin known for their potentially aggressive behavior and significant rate of recurrences. Single odontogenic cysts are very well documented in the literature. Multiple (KCOT are principle features of nevoid basal cell carcinoma syndrome (naevoid basal cell carcinoma syndrome; Gorlin-Goltz syndrome. We report an intriguing case of multiple KCOT in a non-syndromic patient simultaneously occurring in maxilla as well as in mandible with brief highlight on molecular data and the treatment modality.

  10. Eating habits of patients with cleft lip and palate terated with fixed appliances.

    Science.gov (United States)

    Wysocka, Magdalena; Cudziło, Dorota; Kawala, Beata; Kopczyński, Przemysław

    2014-01-01

    Health education, built on the basis of various models as a lifelong process, has a considerable impact on eating habits. Correct nutritional patterns are particularly important during the period of intense growth and adolescence. The need to observe dietary recommendations concerns healthy, as well as sick persons, especially those with chronic diseases. To-date the data on the dietary habits of patients with cleft lip and palate during orthodontic treatment have been scarce. The objective of the study was to determine the eating habits of patients with cleft lip and palate before and during orthodontic treatment with a fixed appliance. The study covered 125 patients with cleft lip and palate, aged 14 to 31. The research tool was an own questionnaire assessing the dietary behaviour and oral hygiene habits during the treatment with a fixed orthodontic appliance. In the course of the orthodontic treatment with a fixed appliance, 79 patients (57.6%) did not change their eating patterns and 32 patients (24%) changed them to a moderate degree. The mean of 53 patients (42.7%) changed their hygienic habits considerably. The number of meals remained the same, however in the period when patients suffered pain after orthodontic adjustment appointments, the number of persons having 4-5 meals a day decreased by 32%. It is worth considering that no statistically significant changes were recorded as regards the habit of having sweet snacks and the insufficient consumption of fruit and vegetables. Difficulties with correct oral hygiene were reported after the consumption of e.g. spinach (59.8%), cucumber (57.6%), berries (54.4%), meat (58.2%). Eating habits of a considerable percentage of patients with a cleft defect, before or during the treatment with a fixed appliance, do not comply with healthy nutrition recommendations. The dietary education of patients undergoing orthodontic treatment is necessary to ensure proper oral health and prevent diet-related illnesses.

  11. A cineradiographic study of deglutition of the post-operative cleft palates

    International Nuclear Information System (INIS)

    Tanimoto, Keiji

    1986-01-01

    Using the cineradiographic study, the characteristics of the deglutition pattern and the coordinated function of oral structures were evaluated for post-operative cleft palates. Nineteen patients (10 males and 9 females) were provided and 17 normals (15 males and 2 females) were selected as a control group. The clefts were divided into 2 groups (good and poor) according to the velopharyngeal competency. The movements of oral structures were analyzed quantitatively frame by frame, and the time points which were physiologically significant during the deglutition were set up. The tongue's function was evaluated by the tongue depression rate and the patterns of the hyoid bone movement. In the cleft palate groups, oral weakness and/or hesitation of swallowing were observed. The poor group showed significantly more overall time of deglutition than the normal group. The time relationship between velopharyngeal closure (VPC) and tongue depression (TD) was one of the most specific features. In the normal group, VPC occurred definitely earlier than TD, but in the poor group, it was delayed, to a large extent. In the good group, the delay was rather small. The tongue depression rates in the cleft palates were larger than those of the normal group. The poor group showed the largest rate which seemed to be compensatory efforts of velopharyngeal incompetency. The patterns of the hyoid bone movements were also different among the three groups corresponding to their tongue function. The results suggested that the abnormal pattern of tongue movements might depend on the velopharyngeal incompetency, and there was a loss of coordinated function between the VPC and TD during the deglutition caused by the malfunction of the velopharyngeal closure. (author)

  12. Not All Clefts Are Created Equal: Patterns of Hospital-Based Care Use among Children with Cleft Lip and Palate within 4 Years of Initial Surgery.

    Science.gov (United States)

    Ligh, Cassandra A; Fox, Justin P; Swanson, Jordan; Yu, Jason W; Taylor, Jesse A

    2016-06-01

    This study compares hospital-based care and associated charges among children with cleft lip, cleft palate, or both, and identifies subgroups generating the greatest cumulative hospital charges. The authors conducted a retrospective cohort study of cleft lip, cleft palate, or cleft lip and palate who underwent initial surgery from 2006 to 2008 in four U.S. states. Primary outcome was hospital-based care-emergency, outpatient, inpatient-within 4 years of surgery. Regression models compared outcomes and classification tree analysis identified patients at risk for being in the highest quartile of cumulative hospital charges. The authors identified 4571 children with cleft lip (18.2 percent), cleft palate (39.2 percent), or cleft lip and palate (42.6 percent). Medical comorbidity was frequent across all groups, with feeding difficulty (cleft lip, 2.4 percent; cleft palate, 13.4 percent; cleft lip and palate, 6.0 percent; p cleft lip, 1.8 percent; cleft palate, 9.4 percent; cleft lip and palate, 3.6 percent; p cleft palate were most likely to return to the hospital (p cleft lip group, yet comparable among those with cleft palate and cleft lip and palate (p cleft palate cohort (cleft lip, $56,966; cleft palate, $106,090; cleft lip and palate, $91,263; p cleft lip versus cleft palate with or without cleft lip), and age at initial surgery were the most important factors associated with the highest quartile of cumulative hospital charges. Cleft lip and palate children experience a high rate of hospital-based care early in life, with degree of medical comorbidity being a significant burden. Understanding this relationship and associated needs may help deliver more efficient, patient-centered care.

  13. The Primary Care Pediatrician and the Care of Children With Cleft Lip and/or Cleft Palate.

    Science.gov (United States)

    Lewis, Charlotte W; Jacob, Lisa S; Lehmann, Christoph U

    2017-05-01

    Orofacial clefts, specifically cleft lip and/or cleft palate (CL/P), are among the most common congenital anomalies. CL/P vary in their location and severity and comprise 3 overarching groups: cleft lip (CL), cleft lip with cleft palate (CLP), and cleft palate alone (CP). CL/P may be associated with one of many syndromes that could further complicate a child's needs. Care of patients with CL/P spans prenatal diagnosis into adulthood. The appropriate timing and order of specific cleft-related care are important factors for optimizing outcomes; however, care should be individualized to meet the specific needs of each patient and family. Children with CL/P should receive their specialty cleft-related care from a multidisciplinary cleft or craniofacial team with sufficient patient and surgical volume to promote successful outcomes. The primary care pediatrician at the child's medical home has an essential role in making a timely diagnosis and referral; providing ongoing health care maintenance, anticipatory guidance, and acute care; and functioning as an advocate for the patient and a liaison between the family and the craniofacial/cleft team. This document provides background on CL/P and multidisciplinary team care, information about typical timing and order of cleft-related care, and recommendations for cleft/craniofacial teams and primary care pediatricians in the care of children with CL/P. Copyright © 2017 by the American Academy of Pediatrics.

  14. Maxillofacial growth and speech outcome after one-stage or two-stage palatoplasty in unilateral cleft lip and palate. A systematic review.

    Science.gov (United States)

    Reddy, Rajgopal R; Gosla Reddy, Srinivas; Vaidhyanathan, Anitha; Bergé, Stefaan J; Kuijpers-Jagtman, Anne Marie

    2017-06-01

    The number of surgical procedures to repair a cleft palate may play a role in the outcome for maxillofacial growth and speech. The aim of this systematic review was to investigate the relationship between the number of surgical procedures performed to repair the cleft palate and maxillofacial growth, speech and fistula formation in non-syndromic patients with unilateral cleft lip and palate. An electronic search was performed in PubMed/old MEDLINE, the Cochrane Library, EMBASE, Scopus and CINAHL databases for publications between 1960 and December 2015. Publications before 1950-journals of plastic and maxillofacial surgery-were hand searched. Additional hand searches were performed on studies mentioned in the reference lists of relevant articles. Search terms included unilateral, cleft lip and/or palate and palatoplasty. Two reviewers assessed eligibility for inclusion, extracted data, applied quality indicators and graded level of evidence. Twenty-six studies met the inclusion criteria. All were retrospective and non-randomized comparisons of one- and two-stage palatoplasty. The methodological quality of most of the studies was graded moderate to low. The outcomes concerned the comparison of one- and two-stage palatoplasty with respect to growth of the mandible, maxilla and cranial base, and speech and fistula formation. Due to the lack of high-quality studies there is no conclusive evidence of a relationship between one- or two-stage palatoplasty and facial growth, speech and fistula formation in patients with unilateral cleft lip and palate. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  15. Association of single nucleotide polymorphisms in WNT genes with the risk of nonsyndromic cleft lip with or without cleft palate.

    Science.gov (United States)

    Rafighdoost, Houshang; Hashemi, Mohammad; Asadi, Hossein; Bahari, Gholamreza

    2018-01-22

    Nonsyndromic cleft lip with or without cleft palate is a common congenital deformity worldwide with multifaceted etiology. Interaction of genes and environmental factors has been indicated to be related with susceptibility to nonsyndromic cleft lip with or without cleft palate. Some WNT genes which are involved in craniofacial embryogenesis may play a key role in the pathogenesis of nonsyndromic cleft lip with or without cleft palate. In the present study, we aimed to inspect the relationship between WNT3 (rs3809857 and rs9890413), WNT3A (rs752107 and rs3121310), and WNT10a rs201002930 (c.392 C>T) polymorphisms and nonsyndromic cleft lip with or without cleft palate in an Iranian population. The present case-control study was carried out on 120 unrelated nonsyndromic cleft lip with or without cleft palate patients and 112 healthy subjects. The variants were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The findings suggest that the rs3809857 polymorphism significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.16, 95% confidence interval = 0.03-0.75, P = 0.020, TT vs GG), recessive (odds ratio = 0.16, 95% confidence interval = 0.03-0.72, P = 0.009, TT vs GG + GT) inheritance models. The rs9890413 variant marginally decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.41, 95% confidence interval = 0.17-0.99, P = 0.047, AG vs AA) model. Regarding C392T variant, the findings revealed that this variant significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.24, 95% confidence interval = 0.10-0.58, P = 0.002, CT vs CC) and allele (odds ratio = 0.26, 95% confidence interval = 0.11-0.62, P = 0.002, T vs C) models. No significant association was observed between the rs752107 and rs3121310 variants

  16. The Oral Health Burden in the United States: A Summary of Recent Epidemiological Studies.

    Science.gov (United States)

    Caplan, Daniel J.; Weintraub, Jane A.

    1993-01-01

    This article reviews recent large-scale epidemiological surveys of oral health in the United States, outlines risk factors for oral disease, and makes recommendations for future surveys. Discussion is limited to dental caries, periodontal diseases, tooth loss, edentulism, oral cancer, and orofacial clefts. (Author/MSE)

  17. Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with or without cleft palate in newborns at a university hospital from West Mexico.

    Science.gov (United States)

    Corona-Rivera, Jorge Román; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Peña-Padilla, Christian; Olvera-Molina, Sandra; Orozco-Martín, Miriam A; García-Cruz, Diana; Ríos-Flores, Izabel M; Gómez-Rodríguez, Brian Gabriel; Rivas-Soto, Gemma; Pérez-Molina, J Jesús

    2018-02-19

    We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during the period 2009-2016 at the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate potential risks, a case-control study was conducted among 420 newborns, including only those 105 patients with nonsyndromic cleft lip with or without cleft palate (cases), and 315 infants without birth defects (controls). Data were analyzed using multivariable logistic regression analysis expressed as adjusted odds ratio with 95% confidence intervals . The overall prevalence for typical orofacial clefts was 28 per 10,000 (95% confidence interval: 24.3-31.6), or 1 per 358 live births. The mean values for the prepregnancy weight, antepartum weight, and pre-pregnancy body mass index were statistically higher among the mothers of cases. Infants with nonsyndromic cleft lip with or without cleft palate had a significantly higher risk for previous history of any type of congenital anomaly (adjusted odds ratio: 2.7; 95% confidence interval: 1.4-5.1), history of a relative with cleft lip with or without cleft palate (adjusted odds ratio: 19.6; 95% confidence interval: 8.2-47.1), and first-trimester exposures to progestogens (adjusted odds ratio: 6.8; 95% CI 1.8-25.3), hyperthermia (adjusted odds ratio: 3.4; 95% confidence interval: 1.1-10.6), and common cold (adjusted odds ratio: 3.6; 95% confidence interval: 1.1-11.9). These risks could have contributed to explain the high prevalence of orofacial clefts in our region of Mexico, emphasizing that except for history of relatives with cleft lip with or without cleft palate, most are susceptible of modification. © 2018 Japanese Teratology Society.

  18. Midline nasal dermoid cyst with Tessier's 0 cleft

    OpenAIRE

    Guruprasad, Yadavalli; Chauhan, Dinesh Singh

    2014-01-01

    This is a rare anomaly of midline nasal dermoid cyst (NDC) along with Tessier's 0 cleft. Midline NDCs present most commonly result from aberrant embryological development, and most commonly give rise to bifid nasal deformity resulting in midline cleft of the nose. Craniofacial clefts are among the most disfiguring of all facial anomalies. They exist in a multitude of patterns and with varying degrees of severity. The bifid nose deformity is generally an indicator of Tessier number 0 cleft. We...

  19. Unusual extension of the first branchial cleft anomaly.

    Science.gov (United States)

    Ada, Mehmet; Korkut, Nazim; Güvenç, M Güven; Acioğlu, Engin; Yilmaz, Süleyman; Cevikbaş, Uğur

    2006-03-01

    First branchial cleft is the only branchial structure that persists as the external ear canal, while all other clefts are resorbed. Incomplete obliteration and the degree of closure cause the varied types of first branchial cleft anomalies. They were classified based on the anatomical and histological features. We present an unusual type of first branchial cleft anomaly involving the external auditory canal, the middle ear and the nasopharynx through the eustachian tube.

  20. Head, Neck, and Oral Cancer

    Medline Plus

    Full Text Available ... Cleft Lip/Palate and Craniofacial Surgery Cleft Lip/Palate and Craniofacial Surgery A cleft lip may require ... Cleft Lip/Palate and Craniofacial Surgery Cleft Lip/Palate and Craniofacial Surgery A cleft lip may require ...

  1. Head, Neck, and Oral Cancer

    Medline Plus

    Full Text Available ... out more. Cleft Lip/Palate and Craniofacial Surgery Cleft Lip/Palate and Craniofacial Surgery A cleft lip may require ... out more. Cleft Lip/Palate and Craniofacial Surgery Cleft Lip/Palate and Craniofacial Surgery A cleft lip may require ...

  2. Non-syndromic posterior lenticonus a cause of childhood cataract: evidence for X-linked inheritance.

    Science.gov (United States)

    Russell-Eggitt, I M

    2000-12-01

    When an X-linked pedigree of posterior lenticonus with cataract was identified further evidence for X-linked inheritance of this condition was sought. Forty-three cases of posterior lenticonus were identified from a database of 354 children with cataract. Two children with the X-linked syndromes of Lowe and Nance-Horan and 3 children with Fanconi syndrome have been excluded from further analysis. None of the children was deaf. None of the non-syndromic cases had microcornea. There were 38 cases of non-syndromic posterior lenticonus (approximately 11%). There were 15 children from 13 pedigrees and 23 apparently sporadic cases. Of the 106 cases on the database with unilateral cataract 15 had posterior lenticonus (approximately 14%). Eleven of 13 pedigrees were compatible with X-linked inheritance or autosomal dominant inheritance with variable expression. However, in 2 pedigrees there was father to son transmission. Posterior lenticonus is a common cause of unilateral infantile cataract, but is thought to be a rare cause of bilateral cataracts. This study suggests that posterior lenticonus is responsible for a significant proportion of childhood cataracts (approximately 14% of unilateral and approximately 9% of bilateral cases). Posterior lenticonus is generally thought to occur as a sporadic condition. This study demonstrates that there is a family history of early-onset cataract in a significant number of bilateral cases (approximately 58%).

  3. Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID

    Directory of Open Access Journals (Sweden)

    Saleha Shamim

    2017-05-01

    Full Text Available Intellectual disability (ID is a neurodevelopmental disorder which appears frequently as the result of genetic mutations and may be syndromic (S-ID or non-syndromic (NS-ID. ID causes an important economic burden, for patient's family, health systems, and society. Identifying genes that cause S-ID can easily be evaluated due to the clinical symptoms or physical anomalies. However, in the case of NS-ID due to the absence of co-morbid features, the latest molecular genetic techniques can be used to understand the genetic defects that underlie it. Recent studies have shown that non-syndromic autosomal recessive (NS-ARID is extremely heterogeneous and contributes much more than X-linked ID. However, very little is known about the genes and loci involved in NS-ARID relative to X-linked ID, and whose complete genetic etiology remains obscure. In this review article, the known genetic etiology of NS-ARID and possible relationships between genes and the associated molecular pathways of their encoded proteins has been reviewed which will enhance our understanding about the underlying genes and mechanisms in NS-ARID.

  4. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

    Science.gov (United States)

    Griesi-Oliveira, Karina; Acab, Allan; Gupta, Abha R.; Sunaga, Daniele Yumi; Chailangkarn, Thanathom; Nicol, Xavier; Nunez, Yanelli; Walker, Michael F.; Murdoch, John D.; Sanders, Stephan J.; Fernandez, Thomas V.; Ji, Weizhen; Lifton, Richard P.; Vadasz, Estevão; Dietrich, Alexander; Pradhan, Dennis; Song, Hongjun; Ming, Guo-li; Guoe, Xiang; Haddad, Gabriel; Marchetto, Maria C. N.; Spitzer, Nicholas; Passos-Bueno, Maria Rita; State, Matthew W.; Muotri, Alysson R.

    2014-01-01

    An increasing number of genetic variants have been implicated in autism spectrum disorders (ASD), and the functional study of such variants will be critical for the elucidation of autism pathophysiology. Here, we report a de novo balanced translocation disruption of TRPC6, a cation channel, in a non-syndromic autistic individual. Using multiple models, such as dental pulp cells, iPSC-derived neuronal cells and mouse models, we demonstrate that TRPC6 reduction or haploinsufficiency leads to altered neuronal development, morphology, and function. The observed neuronal phenotypes could then be rescued by TRPC6 complementation and by treatment with IGF1 or hyperforin, a TRPC6-specific agonist, suggesting that ASD individuals with alterations in this pathway might benefit from these drugs. We also demonstrate that MeCP2 levels affect TRPC6 expression. Mutations in MeCP2 cause Rett syndrome, revealing common pathways among ASDs. Genetic sequencing of TRPC6 in 1041 ASD individuals and 2872 controls revealed significantly more nonsynonymous mutations in the ASD population, and identified loss-of-function mutations with incomplete penetrance in two patients. Taken together, these findings suggest that TRPC6 is a novel predisposing gene for ASD that may act in a multiple-hit model. This is the first study to use iPSC-derived human neurons to model non-syndromic ASD and illustrate the potential of modeling genetically complex sporadic diseases using such cells. PMID:25385366

  5. Mothers' experiences when their infants were diagnosed with cleft ...

    African Journals Online (AJOL)

    Traditionally the diagnosis of cleft lip and palate was made at birth or soon thereafter, but modern technology has led to the identification of cleft lip prenatally. The aim of this study was to describe 16 mothers' experiences of pre- and postnatal diagnosis of their infants' cleft lip and palate, and to develop clinical guidelines for ...

  6. Assessment of scar quality after cleft lip closure

    NARCIS (Netherlands)

    Frans, Franceline A.; van Zuijlen, Paul P. M.; Griot, J. P. W. Don; van der Horst, Chantal M. A. M.

    2012-01-01

    To assess scar quality after cleft lip repair. The linear scars of patients with cleft lip with or without cleft palate were evaluated in a prospective study using the Patient and Observer Scar Assessment Scale. Linear regression was performed to identify which scar characteristics were important

  7. Evaluation of Teeth Development in Unilateral Cleft Lip and Palate ...

    African Journals Online (AJOL)

    2018-02-23

    Feb 23, 2018 ... in patients with cleft lip and palate using medical software ... to be used in routine dental treatment and in particular the need to do more study. ... cleft palate/lip surgery were examined. ... segment from the “evaluate” tab of the program. Teeth .... cases of cleft palate or lip. ..... of maxillary canines: A CT study.

  8. Use of autologous platelet-rich plasma in complete cleft palate repair.

    Science.gov (United States)

    El-Anwar, Mohammad Waheed; Nofal, Ahmed Abdel Fattah; Khalifa, Mohamed; Quriba, Amal Saeed

    2016-07-01

    Evaluate the effect of topical application of autologous platelet-rich plasma (PRP) in primary repair of complete cleft palate and then compare the result with another group of patients using the same surgical technique, without application of PRP with regard to the incidence of oronasal fistula, velopharyngeal closure, and grade of nasality. Case control study. This study was carried on 44 children with complete cleft palate with age range from 12 to 23 months. The children were divided into two age- and gender-matched groups: All children were subjected to the same technique of V-Y pushback repair of the complete cleft palate. In group A (22 children), the PRP prepared from the patient was topically applied between the nasal and oral mucosa layer during palatoplasty, whereas in group B (22 children) the PRP was not applied. All cases were recovered smoothly without problems. In group A, no oronasal fistula was reported, whereas in group B three patients (13.6%) had postoperative fistulae and two patients (9.1%) needed revision palatoplasty. At 6 months postoperative assessment, group A (with PRP application) showed significantly better grade of nasality (P = 0.024) and better endoscopic velopharyngeal closure (P = 0.016) than group B. Usage of autologous PRP in complete cleft palate repair is simple; effective; can decrease the incidence of oronasal fistula; and also significantly improves the grade of nasality and velopharyngeal closure, which decreases the need of further surgical intervention in cleft palate patients. 3b. Laryngoscope, 126:1524-1528, 2016. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

  9. Cleft palate caused by congenital teratoma.

    Science.gov (United States)

    Veyssière, Alexis; Streit, Libor; Traoré, Hamady; Bénateau, Hervé

    2017-02-01

    A cleft palate results from incomplete fusion of the lateral palatine processes, the median nasal septum and the median palatine process. This case report describes a rare case of congenital teratoma originating from the nasal septum that may have interfered with the fusion of the palatal shelves during embryonic development, resulting in a cleft palate. An infant girl was born at 40 weeks of gestation weighing 3020 g with a complete cleft palate associated with a large central nasopharyngeal tumour. Computed tomography (CT) of the head showed a well defined mass of mixed density. The tumour was attached to the nasal septum in direct contact with the cleft palate. A biopsy confirmed the teratoma. Tumour resection was performed at 5 months, soft palate reconstruction at 7 months and hard palate closure at 14 months. There was no sign of local recurrence 1 year later. Most teratomas are benign and the prognosis is usually good. However, recurrence is not rare if germ cell carcinomatous foci are present within the teratoma. For these reasons, we advocate the use of a two-stage procedure in which closure of the cleft palate is postponed until histological examination confirms complete excision of the teratoma.

  10. Occlusal Classification in Relation to Original Cleft Width in Patients With Unilateral Cleft Lip and Palate.

    Science.gov (United States)

    Huang, Andrew H; Patel, Kamlesh B; Maschhoff, Clayton W; Huebener, Donald V; Skolnick, Gary B; Naidoo, Sybill D; Woo, Albert S

    2015-09-01

    To determine a correlation between the width of the cleft palate measured at the time of lip adhesion, definitive lip repair, and palatoplasty and the subsequent occlusal classification of patients born with unilateral cleft lip and palate. Retrospective, observational study. Referral, urban, children's hospital Participants : Dental models and records of 270 patients were analyzed. None. Angle occlusion classification. The mean age at which occlusal classification was determined was 11 ± 0.3 years. Of the children studies, 84 were diagnosed with Class I or II occlusion, 67 were diagnosed with Class III occlusion, and 119 were lost to follow up or transferred care. Mean cleft widths were significantly larger in subjects with Class III occlusion for all measures at time of lip adhesion and definitive lip repair (P cleft widths were significantly greater at the alveolus (P = .025) but not at the midportion of the hard palate (P = .35) or posterior hard palate (P = .10). Cleft widths from the lip through to the posterior hard palate are generally greater in children who are diagnosed with Class III occlusion later in life. Notably, the alveolar cleft width is significantly greater at each time point for patients who went on to develop Class III occlusion. There were no significant differences in cleft widths between patients diagnosed later with Class I and Class II occlusions.

  11. The Fetal Cleft palate: V. Elucidation of the Mechanism of Palatal Clefting in the Congenital Caprine Model

    Science.gov (United States)

    Maternal ingestion of Nicotiana glauca from gestation days 32 through 41 results in a high incidence of cleft palate in Spanish goats. This caprine cleft palate model was used to evaluate the temporal sequence of palatal shelf fusion throughout the period of cleft induction with the poisonous plant...

  12. A study on the dental anomalities and site of cleft associated with cleft lip and/or palate

    International Nuclear Information System (INIS)

    Kim, Eun Kyung; Ahn, Hyung Kyu

    1985-01-01

    The purpose of this study is to investigate possible correlation between the dental anomalies and site of cleft in cleft lip and palate. In this study, 142 patients who had cleft lip and/or cleft palate were examined. The results are as follows. 1. The incidence of missing tooth was high in the permanent dentition as compared to the incidence in the deciduous dentition. 2. There was not much difference of incidence of supernumerary tooth between deciduous and permanent dentition in the group of patients who had cleft lip and jaw with or without cleft palate. 3. In the group of patients who had cleft lip and jaw with or without cleft palate, the frequency of incidence of cleft sides was higher in unilateral than bilateral cases. And, incidence of left sides was higher than right sides. 4. The type of cleft between central incisor and canine with missing lateral incisor was most frequent in permanent dentition and the type of cleft between central and lateral incisor was most frequent in deciduous dentition. 5. The type of cleft associated with tooth position in deciduous dentition was not almost the same in the succeeding permanent dentition.

  13. A study on the dental anomalities and site of cleft associated with cleft lip and/or palate

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Eun Kyung; Ahn, Hyung Kyu [Department of Oral Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

    1985-11-15

    The purpose of this study is to investigate possible correlation between the dental anomalies and site of cleft in cleft lip and palate. In this study, 142 patients who had cleft lip and/or cleft palate were examined. The results are as follows. 1. The incidence of missing tooth was high in the permanent dentition as compared to the incidence in the deciduous dentition. 2. There was not much difference of incidence of supernumerary tooth between deciduous and permanent dentition in the group of patients who had cleft lip and jaw with or without cleft palate. 3. In the group of patients who had cleft lip and jaw with or without cleft palate, the frequency of incidence of cleft sides was higher in unilateral than bilateral cases. And, incidence of left sides was higher than right sides. 4. The type of cleft between central incisor and canine with missing lateral incisor was most frequent in permanent dentition and the type of cleft between central and lateral incisor was most frequent in deciduous dentition. 5. The type of cleft associated with tooth position in deciduous dentition was not almost the same in the succeeding permanent dentition.

  14. Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R

    2017-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a group of common human birth defects with complex etiology. Although genome-wide association studies have successfully identified a number of risk loci, these loci only account for about 20% of the heritability of orofacial clefts. ...

  15. From birth till palatoplasty: Prosthetic procedural limitations and safeguarding infants with palatal cleft

    Directory of Open Access Journals (Sweden)

    Sudhir Bhandari

    2018-01-01

    Full Text Available The most imminent issue to be addressed in a child born with cleft lip and/or palate is restoration of normal feeding. Early surgical treatment for cleft repair is crucial but may need to be postponed until certain age and weight gain is attained in an infant. When other feeding interventions fail in these children, prosthetic obturation of the defect with feeding instructions in the interim period is indicated to ward off the prevailing concerns. However, the entire prosthetic management presents a significant challenge with respect to the child's age, scope of iatrogenic injury to the delicate oral tissues, and potential for life-threatening situation during the procedures. This article draws attention toward preemptive measures which should be undertaken in the clinical setting during the fabrication of obturator to ascertain a desirable outcome without experiencing a grave complication that may arise due to ignorance and/or lack of facilities.

  16. Easy method of centralized fixation of endotracheal tube in cleft lip and palate surgery

    Directory of Open Access Journals (Sweden)

    S P Bajaj

    2012-01-01

    Full Text Available 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.

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

    Directory of Open Access Journals (Sweden)

    Anisha Seth

    2015-01-01

    Full Text Available 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.

  18. Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

    Directory of Open Access Journals (Sweden)

    Amina Bakhchane

    Full Text Available The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B. Here, we report the results of genetic analyses performed on Moroccan families with autosomal recessive non syndromic hearing loss that identified two families with compound heterozygous MYO7A mutations. Five mutations (c.6025delG, c.6229T>A, c.3500T>A, c.5617C>T and c.4487C>A were identified in these families, the latter presenting two differently affected branches. Multiple bioinformatics programs and molecular modelling predicted the pathogenic effect of these mutations. In conclusion, the absence of vestibular and retinal symptom in the affected patients suggests that these families have the isolated non-syndromic hearing loss DFNB2 (nonsyndromic autosomal recessive hearing loss presentation, instead of USH1B.

  19. Type II first branchial cleft anomaly.

    Science.gov (United States)

    Al-Mahdi, Akmam H; Al-Khurri, Luay E; Atto, Ghada Z; Dhaher, Ameer

    2013-01-01

    First branchial cleft anomaly is a rare disease of the head and neck. It accounts for less than 8% of all branchial abnormalities. It is classified into type I, which is thought to arise from the duplication of the membranous external ear canal and are composed of ectoderm only, and type II that have ectoderm and mesoderm. Because of its rarity, first branchial cleft anomaly is often misdiagnosed and results in inappropriate management. A 9-year-old girl presented to us with fistula in the submandibular region and discharge in the external ear. Under general anesthesia, complete surgical excision of the fistula tract was done through step-ladder approach, and the histopathologic examination confirmed the diagnosis of type II first branchial cleft anomaly.

  20. MRI Findings in 77 Children with Non-Syndromic Autistic Disorder

    Science.gov (United States)

    Boddaert, Nathalie; Zilbovicius, Mônica; Philipe, Anne; Robel, Laurence; Bourgeois, Marie; Barthélemy, Catherine; Seidenwurm, David; Meresse, Isabelle; Laurier, Laurence; Desguerre, Isabelle; Bahi-Buisson, Nadia; Brunelle, Francis; Munnich, Arnold; Samson, Yves; Mouren, Marie-Christine; Chabane, Nadia

    2009-01-01

    Background The clinical relevance of MR scanning in children with autism is still an open question and must be considered in light of the evolution of this technology. MRI was judged to be of insufficient value to be included in the standard clinical evaluation of autism according to the guidelines of the American Academy of Neurology and Child Neurology Society in 2000 [1]. However, this statement was based on results obtained from small samples of patients and, more importantly, included mostly insufficient MRI sequences. Our main objective was to evaluate the prevalence of brain abnormalities in a large group of children with a non-syndromic autistic disorder (AD) using T1, T2 and FLAIR MRI sequences. Methodology MRI inspection of 77 children and adolescents with non-syndromic AD (mean age 7.4±3.6) was performed. All met the DSM-IV and ADI –R criteria for autism. Based on recommended clinical and biological screenings, we excluded patients with infectious, metabolic or genetic diseases, seizures or any other neurological symptoms. Identical MRI inspections of 77 children (mean age 7.0±4.2) without AD, developmental or neurological disorders were also performed. All MRIs were acquired with a 1.5-T Signa GE (3-D T1-FSPGR, T2, FLAIR coronal and axial sequences). Two neuroradiologists independently inspected cortical and sub-cortical regions. MRIs were reported to be normal, abnormal or uninterpretable. Principal Findings MRIs were judged as uninterpretable in 10% (8/77) of the cases. In 48% of the children (33/69 patients), abnormalities were reported. Three predominant abnormalities were observed, including white matter signal abnormalities (19/69), major dilated Virchow–Robin spaces (12/69) and temporal lobe abnormalities (20/69). In all, 52% of the MRIs were interpreted as normal (36/69 patients). Conclusions An unexpectedly high rate of MRI abnormalities was found in the first large series of clinical MRI investigations in non-syndromic autism. These

  1. Nasal Airway Dysfunction in Children with Cleft Lip and Cleft Palate: Results of a Cross-Sectional Population-Based Study, with Anatomical and Surgical Considerations.

    Science.gov (United States)

    Sobol, Danielle L; Allori, Alexander C; Carlson, Anna R; Pien, Irene J; Watkins, Stephanie E; Aylsworth, Arthur S; Meyer, Robert E; Pimenta, Luiz A; Strauss, Ronald P; Ramsey, Barry L; Raynor, Eileen; Marcus, Jeffrey R

    2016-12-01

    The aesthetic aspects of the cleft lip nasal deformity have been appreciated for over a century, but the functional implications have remained largely underappreciated or misunderstood. This study describes the frequency and severity of nasal obstructive symptoms among children with cleft lip and/or cleft palate, addressing the hypotheses that age, cleft type, and severity are associated with the development of nasal obstructive symptoms. Children with nonsyndromic cleft lip and/or cleft palate and a comparison group of unaffected children born from 1997 to 2003 were identified through the North Carolina Birth Defects Monitoring Program and birth certificates. Nasal airway obstruction was measured using the validated Nasal Obstruction Symptom Evaluation scale. The survey was completed by parental proxy for 176 children with cleft lip and/or cleft palate and 333 unaffected children. Nasal obstructive symptoms were more frequently reported in cleft lip with cleft palate compared with unaffected children (p cleft lip with or without alveolus and isolated cleft palate were not statistically different from unaffected children. Patients with unilateral cleft lip with cleft palate were found to be more severely affected than bilateral cases. Nasal obstruction was observed in early childhood, although severity worsened in adolescence. This population-based study reports a high prevalence of nasal obstructive symptoms in children with cleft lip and/or cleft palate based on type and severity of the cleft. The authors encourage cleft teams to consider using this or similar screening methods to identify which children may benefit from functional rhinoplasty. Risk, I.

  2. Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

    Science.gov (United States)

    Winata, S; Arhya, I N; Moeljopawiro, S; Hinnant, J T; Liang, Y; Friedman, T B; Asher, J H

    1995-01-01

    Bengkala is an Indonesian village located on the north shore of Bali that has existed for over 700 years. Currently, 2.2% of the 2185 people in this village have profound congenital deafness. In response to the high incidence of deafness, the people of Bengkala have developed a village specific sign language which is used by many of the hearing and deaf people. Deafness in Bengkala is congenital, sensorineural, non-syndromal, and caused by a fully penetrant autosomal recessive mutation at the DFNB3 locus. The frequency of the DFNB3 mutation is estimated to be 9.4% among hearing people who have a 17.2% chance of being heterozygous for DFNB3. PMID:7616538

  3. Non-syndromic multiple keratocyst odontogenic tumor: A rare case report

    Directory of Open Access Journals (Sweden)

    Abhijeet Alok

    2015-01-01

    Full Text Available Keratocystic odontogenic tumors (KCOTs are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBCCS. The condition is linked with mutation in the PTCH gene. Partial expression of the gene may result in occurrence of multiple recurring odontogenic keratocysts (OKCs. Although KCOTs are common in clinical practice, simultaneous occurrence of multiple cysts in both the maxilla and mandible of a patient is rare. These patients have early propensity to develop multiple neoplasms like basal cell carcinoma and medulloblastoma. Hence, early diagnosis and treatment is of utmost importance in reducing the severity of the long-term sequelae of NBCCS. We report a rare case of multiple KCOTs in a non-syndromic male patient, with emphasis on its diagnosis, radiographic features, and treatment.

  4. Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

    Science.gov (United States)

    Nguyen, Thanh-Minh T; Hull, Sarah; Roepman, Ronald; van den Born, L Ingeborgh; Oud, Machteld M; de Vrieze, Erik; Hetterschijt, Lisette; Letteboer, Stef J F; van Beersum, Sylvia E C; Blokland, Ellen A; Yntema, Helger G; Cremers, Frans P M; van der Zwaag, Paul A; Arno, Gavin; van Wijk, Erwin; Webster, Andrew R; Haer-Wigman, Lonneke

    2017-09-01

    Recent findings suggesting that Abelson helper integration site 1 ( AHI1 ) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense variants was uncertain. We assessed whether AHI1 variants cause non-syndromic retinitis pigmentosa (RP). Exome sequencing was performed in three probands with RP. The effects of the identified missense variants in AHI1 were predicted by three-dimensional structure homology modelling. Ciliary parameters were evaluated in patient's fibroblasts, and recombinant mutant proteins were expressed in ciliated retinal pigmented epithelium cells. In the three patients with RP, three sets of compound heterozygous variants were detected in AHI1 (c.2174G>A; p.Trp725* and c.2258A>T; p.Asp753Val, c.660delC; p.Ser221Glnfs*10 and c.2090C>T; p.Pro697Leu, c.2087A>G; p.His696Arg and c.2429C>T; p.Pro810Leu). All four missense variants were present in the conserved WD40 domain of Jouberin, the ciliary protein encoded by AHI1 , with variable predicted implications for the domain structure. No significant changes in the percentage of ciliated cells, nor in cilium length or intraflagellar transport were detected. However, expression of mutant recombinant Jouberin in ciliated cells showed a significantly decreased enrichment at the ciliary base. This report confirms that mutations in AHI1 can underlie autosomal recessive RP. Moreover, it structurally and functionally validates the effect of the RP-associated AHI1 variants on protein function, thus proposing a new genotype-phenotype correlation for AHI1 mutation associated retinal ciliopathies. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  5. ALTERNATIVE APPROACH IN THE TREATMENT OF A GINGIVAL CLEFT ASSOCIATED WITH LABIAL FRENULUM. A 3-YEAR FOLLOW-UP. (Case Report

    Directory of Open Access Journals (Sweden)

    Kamen Kotsilkov

    2015-07-01

    Full Text Available INTRODUCTION: The term Gingival cleft refers to a fissure in the gingival tissues and is usually caused by traumatic oral hygiene, abnormal frenula, trauma from occlusion, orthodontic, or pierce related trauma. Gingival clefts are classified depending on the extent of the inclusion of the gingival thickness into red and white. The recommended treatment approach for the incomplete white clefts is the gingivectomy of the affected keratinized tissue followed by a coronally advanced flap for the root coveradge, while the complete white clefts are treated with a laterally moved, coronally advanced flap, or a free gingival graft procedure. OBJECTIVE: This report presents a case with a spontaneous healing of an incomplete gingival cleft associated with a maxillary labial frenulum after an alternative frenuloectomy approach. METHODS: M.G. (45 with a localized chronic periodontitis, an abnormal papillary maxillary frenulum and an incomplete white cleft on the marginal gingiva of the left central incisor. An alternative frenuloectomy approach combined with a free gingival graft was selected for the correction of the abnormal frenulum. RESULTS:On the sixth month after the surgical procedure an almost complete recovery of the gingival margin was observed.The result at the third year demonstrates a stable gingival margin with a complete tissue recovery. CONCLUSION: The applied combined surgical approach led to a complete gingival recovery of the incomplete white gingival cleft without the commonly used gingivectomy and CAF. Further research is recommended to clarify the adjunctive benefits of the FGG in patients with gingival clefts associated with abnormal frenula.

  6. Genetic survey of a group of children with clefting: implications for genetic counseling

    NARCIS (Netherlands)

    Hofstee, Y.; Kors, N.; Hennekam, R. C.

    1993-01-01

    A cleft lip, cleft palate, or both are associated with a high frequency of other anomalies. This study gives an inventory of associated anomalies in a consecutive group of children (n = 36) with clefts, referred to a local multidisciplinary cleft team in the Netherlands. In 47.2% of cleft patients

  7. Hearing outcomes in patients with cleft lip/palate.

    Science.gov (United States)

    Skuladottir, Hildur; Sivertsen, Ase; Assmus, Jorg; Remme, Asa Rommetveit; Dahlen, Marianne; Vindenes, Hallvard

    2015-03-01

    Objective : Children with cleft lip and palate or cleft palate only have a high incidence of conductive hearing loss from otitis media with effusion. Studies demonstrating longitudinal results are lacking. This study was undertaken to investigate long-term longitudinal hearing outcomes of children with cleft lip and/or cleft palate and cleft palate only. Design : Retrospective chart review. Setting : Clinical charts of patients born with cleft lip and palate or cleft palate only in 1985 to 1994 who were referred to the cleft team in Bergen, Norway. Study findings include 15 years of follow-up. Participants : The study population consisted of 317 children of whom 159 had nonsyndromic cleft lip and palate and 158 had nonsyndromic cleft palate. Main Outcome Measures : Pure tone average calculated from pure tone audiometry at ages 4, 6, and 15 years. Results : The median pure tone average significantly improved with increasing age. For the cleft lip and palate group, the median pure tone average at ages 4, 6, and 15 years was 16 dB hearing level (HL), 13 dB HL, and 9 dB HL, respectively (P ≤ .001). In the cleft palate group the median pure tone average at ages 4, 6, and 15 years was 15 dB HL, 12 dB HL, and 9 dB HL, respectively (P ≤ .001). There was no significant difference in the hearing levels between the two groups. Patients who had surgical closure of the palate at age 18 months had a significantly better pure tone average outcome at age 15 compared with patients who had surgery at 12 months. Conclusions : Hearing improves significantly from childhood to adolescence in patients with cleft lip and palate and cleft palate only.

  8. Lower lip deformity in patients with cleft and non-cleft Class III malocclusion before and after orthognathic surgery.

    Science.gov (United States)

    Park, Joo Seok; Koh, Kyung S; Choi, Jong Woo

    2015-10-01

    Orthognathic surgery does not yield the same cosmetic benefits in patients with Class III jaw deformities associated with clefts as for patients without clefts. Preoperative upper lip tightness caused by cleft lip repair may not fully explain this difference, suggesting that a lower lip deformity is present. The study compared the outcomes of orthognathic surgery in patients with cleft and non-cleft Class III malocclusion, focusing on lip relationship. The surgical records of 50 patients with Class III malocclusion, including 25 with and 25 without clefts, who had undergone orthognathic surgery, were retrospectively analyzed. Lateral cephalometric tracings, preoperatively and at 6 months postoperatively, were superimposed to analyze the soft tissue changes at seven reference points. At 6 months after surgery, there were no significant differences in skeletal location, whereas the soft tissues of the lower lip differed significantly between patients with and without cleft (p=0.002), indicating the persistence of a lower lip deformity in cleft patients. Moreover, the soft tissues of the lower lip receded in non-cleft patients and protruded in cleft patients after orthognathic surgery. Lower lip deformity and upper lip tightness may result in an unsatisfactory relationship between the upper and lower lips of patients with cleft-related jaw deformity after orthognathic surgery. Other factors were less important than the pathology of the lower lip. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  9. Fetal cleft lip with and without cleft palate: Comparison between MR imaging and US for prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Wang Guangbin, E-mail: wgb7932596@hotmail.com [Shandong Medical Imaging Research Institute, 324 Jingwu Road, Jinan, 250021 (China); Shan Ruiqin [Jinan Maternity and Child Care Hospital, Jinan (China); Zhao Lianxin; Zhu Xiangyu; Zhang Xinjuan [Shandong Medical Imaging Research Institute, 324 Jingwu Road, Jinan, 250021 (China)

    2011-09-15

    Objective: To describe the magnetic resonance (MR) imaging findings of fetal CL/CP and evaluate its diagnostic value. Methods and materials: Twelve fetuses with CL/CP diagnosed by transabdominal US underwent MR imaging within 2 days of US. Half-Fourier acquisition single-shot turbo spin echo (HASTE) sequence on T2-weighted images was performed on sagittal, coronal, and axial planes anatomic to the fetuses during maternal breath holding. US and MR imaging findings were compared with final diagnoses obtained from post-natal physical examination or fetal autopsy. Results: Final diagnoses confirmed incomplete midline cleft lip (n = 1), unilateral cleft lip and palate (n = 7), bilateral cleft lip and palate (n = 1), midline cleft lip and palate (n = 3). US and MR imaging diagnosed all 12 fetuses with cleft lip and the laterality. 5 (45.5%) of 11 cleft palates were identified with US, 2 of 7 fetuses with unilateral cleft palate, 2 of 3 fetuses with midline cleft palate, and one fetus with bilateral cleft palate. On MR imaging, 10 (91%) of 11 cleft palates were correctly detected. One fetus with unilateral cleft palate was not detected. No false-positives occurred. Conclusion: MR imaging is valuable for diagnosis of fetal CL/CP. It can demonstrate additional findings and provide more information compared with US.

  10. Fetal cleft lip with and without cleft palate: Comparison between MR imaging and US for prenatal diagnosis

    International Nuclear Information System (INIS)

    Wang Guangbin; Shan Ruiqin; Zhao Lianxin; Zhu Xiangyu; Zhang Xinjuan

    2011-01-01

    Objective: To describe the magnetic resonance (MR) imaging findings of fetal CL/CP and evaluate its diagnostic value. Methods and materials: Twelve fetuses with CL/CP diagnosed by transabdominal US underwent MR imaging within 2 days of US. Half-Fourier acquisition single-shot turbo spin echo (HASTE) sequence on T2-weighted images was performed on sagittal, coronal, and axial planes anatomic to the fetuses during maternal breath holding. US and MR imaging findings were compared with final diagnoses obtained from post-natal physical examination or fetal autopsy. Results: Final diagnoses confirmed incomplete midline cleft lip (n = 1), unilateral cleft lip and palate (n = 7), bilateral cleft lip and palate (n = 1), midline cleft lip and palate (n = 3). US and MR imaging diagnosed all 12 fetuses with cleft lip and the laterality. 5 (45.5%) of 11 cleft palates were identified with US, 2 of 7 fetuses with unilateral cleft palate, 2 of 3 fetuses with midline cleft palate, and one fetus with bilateral cleft palate. On MR imaging, 10 (91%) of 11 cleft palates were correctly detected. One fetus with unilateral cleft palate was not detected. No false-positives occurred. Conclusion: MR imaging is valuable for diagnosis of fetal CL/CP. It can demonstrate additional findings and provide more information compared with US.

  11. Isolated cleft palate requires different surgical protocols depending on cleft type.

    Science.gov (United States)

    Elander, Anna; Persson, Christina; Lilja, Jan; Mark, Hans

    2017-08-01

    A staged protocol for isolated cleft palate (CPO), comprising the early repair of the soft palate at 6 months and delayed repair of the eventual cleft in the hard palate until 4 years, designed to improve maxillary growth, was introduced. CPO is frequently associated with additional congenital conditions. The study evaluates this surgical protocol for clefts in the soft palate (CPS) and for clefts in the hard and soft palate (CPH), with or without additional malformation, regarding primary and secondary surgical interventions needed for cleft closure and for correction of velopharyngeal insufficiency until 10 years of age. Of 94 consecutive children with CPO, divided into four groups with (+) or without (-) additional malformations (CPS + or CPS - and CPH + or CPH-), hard palate repair was required in 53%, performed with small local flaps in 21% and with bilateral mucoperiosteal flaps in 32%. The total incidence of soft palate re-repair was 2% and the fistula repair of the hard palate was 5%. The total incidence of secondary velopharyngeal surgery was 17% until 10 years, varying from 0% for CPS - and 15% for CPH-, to 28% for CPS + and 30% for CPH+. The described staged protocol for repair of CPO is found to be safe in terms of perioperative surgical results, with comparatively low need for secondary interventions. Furthermore, the study indicates that the presence of a cleft in the hard palate and/or additional conditions have a negative impact on the development of the velopharyngeal function.

  12. Early correction of septum JJ deformity in unilateral cleft lip-cleft palate.

    Science.gov (United States)

    Morselli, Paolo G; Pinto, Valentina; Negosanti, Luca; Firinu, Antonella; Fabbri, Erich

    2012-09-01

    The treatment of patients affected by unilateral cleft lip-cleft palate is based on a multistage procedure of surgical and nonsurgical treatments in accordance with the different types of deformity. Over time, the surgical approach for the correction of a nasal deformity in a cleft lip-cleft palate has changed notably and the protocol of treatment has evolved continuously. Not touching the cleft lip nose in the primary repair was dogmatic in the past, even though this meant severe functional, aesthetic, and psychological problems for the child. McComb reported a new technique for placement of the alar cartilage during lip repair. The positive results of this new approach proved that the early correction of the alar cartilage anomaly is essential for harmonious facial growth with stable results and without discomfort for the child. The authors applied the same principles used for the treatment of the alar cartilage for correction of the septum deformity, introducing a primary rhinoseptoplasty during the cheiloplasty. The authors compared two groups: group A, which underwent septoplasty during cleft lip repair; and group B, which did not. After the anthropometric evaluation of the two groups, the authors observed better symmetry regarding nasal shape, correct growth of the nose, and a strong reduction of the nasal deformity in the patients who underwent primary JJ septum deformity correction. The authors can assume that, similar to the alar cartilage, the septum can be repositioned during the primary surgery, without causing growth anomaly, improving the morphologic/functional results.

  13. Comparative Assessment of the Cleft Profile by Patients with Cleft Lip and Palate, Cleft Surgeons, and Lay People.

    Science.gov (United States)

    Meng, Tian; Ma, Lian; Wang, Zhi

    2015-10-01

    This cross-sectional study aimed to compare subjective assessments among patients with cleft lip and palate (CLP), cleft surgeons, and lay people regarding the soft tissue lateral profile of CLP patients. We also investigated the correlations between subjective assessments and photogrammetric measurements. A total of 150 CLP patients who wished to have treatment for their unattractive appearance were randomly selected. A standard lateral profile color photograph was taken. Panels of three cleft surgeons, ten CLP patients, and ten lay people were selected to be assessors. They rated nasal tip projection, nasolabial esthetics, upper and lower lip esthetics, and the profile for each photograph. Three angular measurements (nasal prominence angle, nasolabial angle, and lip angle) were measured for each photograph. Kendall's coefficient of concordance and logistic regression were used for statistical analysis. Kendall's coefficient of concordance of nasal tip projection, nasolabial esthetics, upper and lower lip esthetics, and the profile were 0.734, 0.683, 0.828, and 0.747, respectively (p lay people (p lay people have similar attitudes to the appearance of CLP patients. Upper and lower lip esthetics is associated with the assessment of the cleft profile that is provided by CLP patients, cleft surgeons, and lay people. In addition, nasal tip projection is another determining factor for lay people. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

  14. Patterns of orofacial clefting in the facial morphology of bats: a possible naturally occurring model of cleft palate.

    Science.gov (United States)

    Orr, David J A; Teeling, Emma C; Puechmaille, Sébastien J; Finarelli, John A

    2016-11-01

    A normal feature of the facial anatomy of many species of bat is the presence of bony discontinuities or clefts, which bear a remarkable similarity to orofacial clefts that occur in humans as a congenital pathology. These clefts occur in two forms: a midline cleft between the two premaxillae (analogous to the rare midline craniofacial clefts in humans) and bilateral paramedian clefts between the premaxilla and the maxillae (analogous to the typical cleft lip and palate in humans). Here, we describe the distribution of orofacial clefting across major bat clades, exploring the relationship of the different patterns of clefting to feeding mode, development of the vomeronasal organ, development of the nasolacrimal duct and mode of emission of the echolocation call in different bat groups. We also present the results of detailed radiographic and soft tissue dissections of representative examples of the two types of cleft. The midline cleft has arisen independently multiple times in bat phylogeny, whereas the paramedian cleft has arisen once and is a synapomorphy uniting the Rhinolophidae and Hipposideridae. In all cases examined, the bony cleft is filled in by a robust fibrous membrane, continuous with the periosteum of the margins of the cleft. In the paramedian clefts, this membrane splits to enclose the premaxilla but forms a loose fold laterally between the premaxilla and maxilla, allowing the premaxilla and nose-leaf to pivot dorsoventrally in the sagittal plane under the action of facial muscles attached to the nasal cartilages. It is possible that this is a specific adaptation for echolocation and/or aerial insectivory. Given the shared embryological location of orofacial clefts in bats and humans, it is likely that aspects of the developmental control networks that produce cleft lip and palate in humans may also be implicated in the formation of these clefts as a normal feature in some bats. A better understanding of craniofacial development in bats with and

  15. Parental Reactions to Cleft Palate Children.

    Science.gov (United States)

    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…

  16. Neuroembryology and functional anatomy of craniofacial clefts

    Directory of Open Access Journals (Sweden)

    Ewings Ember

    2009-10-01

    Full Text Available The master plan of all vertebrate embryos is based on neuroanatomy. The embryo can be anatomically divided into discrete units called neuromeres so that each carries unique genetic traits. Embryonic neural crest cells arising from each neuromere induce development of nerves and concomitant arteries and support the development of specific craniofacial tissues or developmental fields. Fields are assembled upon each other in a programmed spatiotemporal order. Abnormalities in one field can affect the shape and position of developing adjacent fields. Craniofacial clefts represent states of excess or deficiency within and between specific developmental fields. The neuromeric organization of the embryo is the common denominator for understanding normal anatomy and pathology of the head and neck. Tessier′s observational cleft classification system can be redefined using neuroanatomic embryology. Reassessment of Tessier′s empiric observations demonstrates a more rational rearrangement of cleft zones, particularly near the midline. Neuromeric theory is also a means to understand and define other common craniofacial problems. Cleft palate, encephaloceles, craniosynostosis and cranial base defects may be analyzed in the same way.

  17. Thymic cyst: a fourth branchial cleft anomaly.

    Science.gov (United States)

    Nayan, Smriti; MacLean, Jonathan; Sommer, Doron

    2010-01-01

    We report a unique case of a fourth branchial cleft cyst found within the thymus of an adult patient. In the literature to date, there have been no reports of such a finding in the adult population. These anomalies can often cause recurrent acute suppurative thyroiditis or recurrent deep neck abscesses. Delay in recognizing the underlying etiology can lead to significant complications.

  18. Nasal Glial Heterotopia with Cleft Palate.

    Science.gov (United States)

    Chandna, Sudhir; Mehta, Milind A; Kulkarni, Abhishek Kishore

    2018-01-01

    Congenital midline nasal masses are rare anomalies of which nasal glial heterotopia represents an even rarer subset. We report a case of a 25-day-old male child with nasal glial heterotopia along with cleft palate suggesting embryonic fusion anomaly which was treated with excision and primary closure for nasal mass followed by palatal repair at later date.

  19. Nasal glial heterotopia with cleft palate

    Directory of Open Access Journals (Sweden)

    Sudhir Chandna

    2018-01-01

    Full Text Available Congenital midline nasal masses are rare anomalies of which nasal glial heterotopia represents an even rarer subset. We report a case of a 25-day-old male child with nasal glial heterotopia along with cleft palate suggesting embryonic fusion anomaly which was treated with excision and primary closure for nasal mass followed by palatal repair at later date.

  20. Maternal genes and facial clefts in offspring

    DEFF Research Database (Denmark)

    Jugessur, Astanand; Shi, Min; Gjessing, Håkon Kristian

    2010-01-01

    BACKGROUND: Fetal conditions can in principle be affected by the mother's genotype working through the prenatal environment. METHODOLOGY/PRINCIPAL FINDINGS: Genotypes for 1536 SNPs in 357 cleft candidate genes were available from a previous analysis in which we focused on fetal gene effects [1]. ...

  1. The Chechen it-cleft construction

    NARCIS (Netherlands)

    Komen, E.R.

    2015-01-01

    This paper presents a biclausal construction in Chechen, arguing that it can be analyzed as an it-cleft. The construction consists of a main copula clause with a covert or pronominal subject, and a temporal complement that co-indexes with an adjunct position in a relative clause that does not form a

  2. Phosphodiesterase activity is regulated by CC2D1A that is implicated in non-syndromic intellectual disability

    KAUST Repository

    Altawashi, Azza; Gehring, Christoph A

    2013-01-01

    to as Non Syndromic Mental Retardation (NSMR). Findings. Here we demonstrate that in Mouse Embryonic Fibroblasts (MEF) CC2D1A co-localizes with PDE4D in the cytosol before cAMP stimulation and on the periphery after stimulation, and that the movement

  3. Cranio-facial clefts in pre-hispanic America.

    Science.gov (United States)

    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. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. Anterior maxillary distraction using a tooth-borne device for hypoplastic cleft maxillas-a pilot study.

    Science.gov (United States)

    Richardson, Sunil; Agni, Nisheet A; Selvaraj, Dhivakar

    2011-12-01

    The management of maxillary retrusion in a patient with cleft lip and palate is performed using Le Fort I advancement or distraction osteogenesis using an external or an internal device. Distraction mostly involves movement of the entire maxilla at the Le Fort I level and is characterized by a higher relapse rate and a hampering of speech. Hence, distraction of the anterior maxilla was performed using a tooth-borne palatal distractor similar to the one proposed by Gunaseelan et al (J Oral Maxillofac Surg 65:1044, 2007). However, the technique was modified by placing the distractor preoperatively before performing the osteotomy cut. The main advantage of this modification is that more control over the vector can be achieved and chances of cement failure caused by contamination and an inability to achieve isolation is drastically decreased. This study investigated the efficacy and stability of anterior maxillary distraction in the management of cleft maxillary retrognathia and any resulting complications. Fourteen patients older than 12 years with cleft maxillary retrognathia were included in the study irrespective of gender, type of cleft lip and palate, and the amount of advancement needed. The patients were evaluated using Orthopantomogram and lateral cephalograms preoperatively and at 3 months postoperatively (ie, before appliance removal) and at 6 months postoperatively. The distractor was fabricated extraorally on a cast and cemented into the patient's mouth the day before surgery. The initial deficiency, amount of advancement achieved, and relapses at 6 months, if any, were studied. The data were tabulated and analyzed. Only 1 of the 14 patients showed a relapse, of 2 mm, because this patient was lost to follow-up and thus delayed tooth replacement. Anterior maxillary distraction with a tooth-borne device is a feasible modality for the management of cleft maxillary retrognathia, with stable results. Copyright © 2011 American Association of Oral and

  5. Clefts of the lip and palate: is the Internet a trustworthy source of information for patients?

    Science.gov (United States)

    Karamitros, G A; Kitsos, N A

    2018-04-02

    Great numbers of patients use the Internet to obtain information and familiarize themselves with medical conditions. However, the quality of Internet-based information on clefts of the lip and palate has not yet been examined. The goal of this study was to assess the quality of Internet-based patient information on orofacial clefts. Websites were evaluated based on the modified Ensuring Quality Information for Patients (EQIP) instrument (36 items). Three hundred websites were identified using the most popular search engines. Of these, 146 were assessed after the exclusion of duplicates, irrelevant sites, and web pages in languages other than English. Thirty-four (23.2%) web pages, designed mostly by academic centres and hospitals, covered more than 22 items and were classified as high-score websites. The EQIP score achieved by websites ranged between 4 and 30, out of a total possible 36 points; the median score was 19 points. The top five high-scoring web pages are highlighted. The overall quality of Internet-based patient information on orofacial clefts is low. Also, the majority of web pages created by medical practitioners have a marketing perspective and in order to attract more patients/customers avoid mentioning the risks of the reconstructive procedures needed. Copyright © 2018 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  6. Case report of a p16INK4A-positive branchial cleft cyst.

    Science.gov (United States)

    McLean, T; Iseli, C; Amott, D; Taylor, M

    2015-06-01

    To report the occurrence of a concurrent oropharyngeal papilloma and branchial cleft cyst linked by p16(INK4A) and human papillomavirus immunohistochemistry. A 42-year-old woman presented with a 1-month history of a left lateral neck mass. Contrast enhanced computed tomography showed a hypodense lesion 20 mm in diameter anteromedial to the left sternocleidomastoid muscle. Ultrasound-guided fine needle aspiration suggested a branchial cleft cyst. Panendoscopy was performed at the time of neck mass removal, and a papillomatous lesion was removed from the left hypopharynx. Histopathological analysis showed the neck lesion to be a branchial cyst containing lymphoid tissue, and the oral lesion to be a squamous papilloma. Immunohistochemical analysis showed both the branchial cleft cyst and papilloma to be positive for p16(INK4A) expression and human papillomavirus DNA. Histological and immunohistochemical analyses support the cystic transformation of lymph nodes, or the 'Inclusion Theory', as the aetiology of branchial apparatus anomalies, and raise the possibility that human papillomavirus infection may play a much larger role in disease of the head and neck than previously supposed.

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

    Science.gov (United States)

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

    2015-04-01

    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. 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. 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. 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.

  8. Transmigration of mandibular second premolar in a patient with cleft lip and palate--case report.

    Science.gov (United States)

    Alves, Daniel Berretta Moreira; Pedrosa, Esio Fortaleza Nascimento Chaves; Andreo, Jesus Carlos; de Carvalho, Izabel Maria Marchi; Rodrigues, Antonio de Castro

    2008-01-01

    Disturbances involving abnormalities in tooth eruption are named ectopia. Transmigration is the name assigned to ectopia in the presence of teeth in areas distant from the alveolar process. Initial angulation of the tooth bud of the second premolar and premature loss of permanent mandibular 1st molars can influence the distal migration of the second premolar. Some studies have observed that ectopic teeth can be found in a variety of places around the oral cavity and also in other areas of the human body. There are records of teeth in the maxillary sinus, mandibular condyle, coronoid process, mandibular angle, orbit, palate, mentum and also the skin. The prevalence of tooth abnormalities is higher in children with cleft lip and palate compared to children without clefts. This paper presents a case report of migration of the mandibular left second premolar in a patient attending the Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC/USP), Brazil. Migration of the mandibular left 2nd premolar was confirmed by 8 panoramic and 1 periapical radiographs obtained during patient's treatment between 1978 and 2002, which were available in the files of the Department of Dental Radiology of HRAC/USP. It can be assumed that distal migration of the mandibular left 2nd premolar is not associated with presence of cleft lip and palate; observation of these two events in a same patient is rare, since no similar reported cases were found in the literature.

  9. Transmigration of mandibular second premolar in a patient with cleft lip and palate: case report

    Directory of Open Access Journals (Sweden)

    Daniel Berretta Moreira Alves

    2008-10-01

    Full Text Available Disturbances involving abnormalities in tooth eruption are named ectopia. Transmigration is the name assigned to ectopia in the presence of teeth in areas distant from the alveolar process. Initial angulation of the tooth bud of the second premolar and premature loss of permanent mandibular 1st molars can influence the distal migration of the second premolar. Some studies have observed that ectopic teeth can be found in a variety of places around the oral cavity and also in other areas of the human body. There are records of teeth in the maxillary sinus, mandibular condyle, coronoid process, mandibular angle, orbit, palate, mentum and also the skin. The prevalence of tooth abnormalities is higher in children with cleft lip and palate compared to children without clefts. This paper presents a case report of migration of the mandibular left second premolar in a patient attending the Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC/USP, Brazil. Migration of the mandibular left 2nd premolar was confirmed by 8 panoramic and 1 periapical radiographs obtained during patient's treatment between 1978 and 2002, which were available in the files of the Department of Dental Radiology of HRAC/USP. It can be assumed that distal migration of the mandibular left 2nd premolar is not associated with presence of cleft lip and palate; observation of these two events in a same patient is rare, since no similar reported cases were found in the literature.

  10. Current surgical practices in cleft care: cleft palate repair techniques and postoperative care.

    Science.gov (United States)

    Katzel, Evan B; Basile, Patrick; Koltz, Peter F; Marcus, Jeffrey R; Girotto, John A

    2009-09-01

    The purpose of this study was to objectively report practices commonly used in cleft palate repair in the United States. This study investigates current surgical techniques, postoperative care, and complication rates for cleft palate repair surgery. All 803 surgeon members of the American Cleft Palate-Craniofacial Association were sent online and/or paper surveys inquiring about their management of cleft palate patients. Three-hundred six surveys were received, a 38 percent response rate. This represented responses of surgeons from 100 percent of American Cleft Palate-Craniofacial Association registered cleft teams. Ninety-six percent of respondents perform a one-stage repair. Eighty-five percent of surgeons perform palate surgery when the patient is between 6 and 12 months of age. The most common one-stage repair techniques are the Bardach style (two flaps) with intravelar veloplasty and the Furlow palatoplasty. After surgery, 39 percent of surgeons discharge patients within 24 hours. Another 43 percent discharge patients within 48 hours. During postoperative management, 92 percent of respondents implement feeding restrictions. Eighty-five percent of physicians use arm restraints. Surgeons' self-reported complications rates are minimal: 54 percent report a fistula in less than 5 percent of cases. The reported need for secondary speech surgery varies widely. The majority of respondents repair clefts in one stage. The most frequently used repair techniques are the Furlow palatoplasty and the Bardach style with intravelar veloplasty. After surgery, the majority of surgeons discharge patients in 1 or 2 days, and nearly all surgeons implement feeding restrictions and the use of arm restraints. The varying feeding protocols are reviewed in this article.

  11. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

    DEFF Research Database (Denmark)

    Beaty, Terri H; Murray, Jeffrey C; Marazita, Mary L

    2010-01-01

    Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635...

  12. Innate lymphoid cells: a paradigm for low SSI in cleft lip repair.

    Science.gov (United States)

    Simmerman, Erika; Qin, Xu; Marshall, Brendan; Perry, Libby; Cai, Lei; Wang, Tailing; Yu, Jack; Akbari, Omid; Baban, Babak

    2016-10-01

    Cleft lip and palate reconstructions demonstrate significantly lower surgical site infection rates compared with clean-contaminated cases, prompting investigation into the pathophysiology causing this discrepancy. Recent studies have identified a new group of innate lymphocytes called innate lymphoid cells (ILCs), located in barrier surfaces of the skin, airways, and intestine. Our objectives were to explore for the first time the presence of ILCs in the vermillion of neonates and young children undergoing cleft lip reconstruction and characterize their composition by measuring the three classes of ILCs. Lip tissue samples were collected from 13 subjects undergoing vermillion resection during cleft lip reconstructive surgery. Preparative, transmission electron microscopy, and analytical flow cytometry were performed. The functionality of ILCs was tested in terms of their capacity to produce type 1 (IFN-γ/TNF-α), type 2 (IL-5/IL-13), and type 3 (IL-17/IL-22) cytokines. Data were analyzed using Student t test or the analysis of variance to establish significance (P < 0.05) among groups for all other data. All three classes of ILCs were detected and visualized in the tissue samples. In all samples, the level of ILC2 subset was significantly higher than the other two ILC subsets (P < 0.01), followed by the ILC1 subset, which was present in significantly higher levels than the ILC3 subset (P < 0.05). Our data place ILCs for the first time in the interface of oral mucosal immunity, tissue microenvironment, and homeostasis during and after tissue development, possibly explaining lower infection rates in cleft lip or palate reconstructions. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Sonographic detection of intrathyroidal branchial cleft cyst: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Hye-Jeong; Kim, Eun-Kyung; Hong, Soon-Won [Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2006-06-15

    We report here on an extremely rare case of an intrathyroidal branchial cleft cyst. Intrathyroidal branchial cleft cyst is rare disease entity and it nonspecific findings on sonography, so the diagnosis of the lesion is very difficult. However, during aspiration, if pus-like materials are aspirated from a thyroid cyst, we should consider the possibility of intrathyroidal branchial cleft cyst in the differential diagnosis.

  14. Sonographic detection of intrathyroidal branchial cleft cyst: a case report

    International Nuclear Information System (INIS)

    Lee, Hye-Jeong; Kim, Eun-Kyung; Hong, Soon-Won

    2006-01-01

    We report here on an extremely rare case of an intrathyroidal branchial cleft cyst. Intrathyroidal branchial cleft cyst is rare disease entity and it nonspecific findings on sonography, so the diagnosis of the lesion is very difficult. However, during aspiration, if pus-like materials are aspirated from a thyroid cyst, we should consider the possibility of intrathyroidal branchial cleft cyst in the differential diagnosis

  15. MR findings of intravertebral vacuum cleft: Report of two cases

    International Nuclear Information System (INIS)

    Lee, Sung Moon; Suh, Soo Jhi; Suh, Kyung Jin

    1994-01-01

    Intravertebral vacuum cleft in collapsed vertebra was considered as a typical finding of avascular necrosis. However, several authors reported some cases of intravertebral vacuum cleft in primary or secondary neoplasm, or in spondylitis emphasizing the differential diagnosis. MRI is known to be a useful diagnostic modality for differentiation between benign and malignanct conditions causing vertebral collapse. We report MRI findings of two cases with intravertebral vacuum cleft diagnosed as posttraumatic collapse with avascular necrosis on radiological and clinical bases

  16. MR findings of intravertebral vacuum cleft: Report of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sung Moon; Suh, Soo Jhi [School of Medicine, Keimyung University, Taegu (Korea, Republic of); Suh, Kyung Jin [College of Medicine, Kyungpook National University, Taegu (Korea, Republic of)

    1994-07-15

    Intravertebral vacuum cleft in collapsed vertebra was considered as a typical finding of avascular necrosis. However, several authors reported some cases of intravertebral vacuum cleft in primary or secondary neoplasm, or in spondylitis emphasizing the differential diagnosis. MRI is known to be a useful diagnostic modality for differentiation between benign and malignanct conditions causing vertebral collapse. We report MRI findings of two cases with intravertebral vacuum cleft diagnosed as posttraumatic collapse with avascular necrosis on radiological and clinical bases.

  17. Finding new genes for non-syndromic hearing loss through an in silico prioritization study.

    Directory of Open Access Journals (Sweden)

    Matteo Accetturo

    Full Text Available At present, 51 genes are already known to be responsible for Non-Syndromic hereditary Hearing Loss (NSHL, but the knowledge of 121 NSHL-linked chromosomal regions brings to the hypothesis that a number of disease genes have still to be uncovered. To help scientists to find new NSHL genes, we built a gene-scoring system, integrating Gene Ontology, NCBI Gene and Map Viewer databases, which prioritizes the candidate genes according to their probability to cause NSHL. We defined a set of candidates and measured their functional similarity with respect to the disease gene set, computing a score ( S S M avg that relies on the assumption that functionally related genes might contribute to the same (disease phenotype. A Kolmogorov-Smirnov test, comparing the pair-wise distribution on the disease gene set with the distribution on the remaining human genes, provided a statistical assessment of this assumption. We found at a p-value 0.99. The twenty top-scored genes were finally examined to evaluate their possible involvement in NSHL. We found that half of them are known to be expressed in human inner ear or cochlea and are mainly involved in remodeling and organization of actin formation and maintenance of the cilia and the endocochlear potential. These findings strongly indicate that our metric was able to suggest excellent NSHL candidates to be screened in patients and controls for causative mutations.

  18. Investigation of the Matrix Metalloproteinase-2 Gene in Patients with Non-Syndromic Mitral Valve Prolapse

    Directory of Open Access Journals (Sweden)

    Maëlle Perrocheau

    2015-07-01

    Full Text Available Non-syndromic mitral valve prolapse (MVP is a common degenerative valvulopathy, predisposing to arrhythmia and sudden death. The etiology of MVP is suspected to be under genetic control, as supported by familial cases and its manifestation in genetic syndrome (e.g., Marfan syndrome. One candidate etiological mechanism is a perturbation of the extracellular matrix (ECM remodeling of the valve. To test this hypothesis, we assessed the role of genetic variants in the matrix metalloproteinase 2 gene (MMP2 known to regulate the ECM turnover by direct degradation of proteins and for which transgenic mice develop MVP. Direct sequencing of exons of MMP2 in 47 unrelated patients and segregation analyses in families did not reveal any causative mutation. We studied eight common single nucleotide polymorphisms (TagSNPs, which summarize the genetic information at the MMP2 locus. The association study in two case controls sets (NCases = 1073 and NControls = 1635 provided suggestive evidence for the association of rs1556888 located downstream MMP2 with the risk of MVP, especially in patients with the fibroelastic defiency form. Our study does not support the contribution of MMP2 rare variation in the etiology to MVP in humans, though further genetic and molecular investigation is required to confirm our current suggestive association of one common variant.

  19. Mutation analysis of GJB2 gene and prenatal diagnosis in a non-syndromic deafness family

    Directory of Open Access Journals (Sweden)

    Xiao-hua CHEN

    2014-08-01

    Full Text Available Objective To identify the pathogenic gene in a non-syndromic deafness family, provide an accurate genetic consultation and early intervention for deaf family to reduce the incidence of congenital deafness. Methods Mutation analysis was carried out by polymerase chain reaction followed by DNA sequencing of coding region of GJB2 gene. The fetal DNA was extracted from the amniotic fluid cells by amniocentesis at 20 weeks during pregnancy. The genotype of the fetus was characterized for predicting the status of hearing. Results Complex heterozygous mutations 235delC and 176-191del16bp were detected in the proband of the family, heterozygous mutation 176-191del16bp was detected in the father, and 235delC was detected in the mother. Fetus carried 235delC heterozygous mutation inherited from his mother. Conclusions The proband's hearing loss is resulted from the complex heterozygous mutations 235delC and 176-191del16bp in GJB2 gene. Fetus is a heterozygous mutation 235delC carrier. Prenatal diagnosis for deafness assisted by genetic test can provide efficient guidance about offspring's hearing condition, and prevent another deaf-mute member from birth. DOI: 10.11855/j.issn.0577-7402.2014.07.09

  20. Variations in Velopharyngeal Structure in Adults With Repaired Cleft Palate.

    Science.gov (United States)

    Perry, Jamie L; Kotlarek, Katelyn J; Sutton, Bradley P; Kuehn, David P; Jaskolka, Michael S; Fang, Xiangming; Point, Stuart W; Rauccio, Frank

    2018-01-01

    The purpose of this study was to examine differences in velopharyngeal structures between adults with repaired cleft palate and normal resonance and adults without cleft palate. Thirty-six English-speaking adults, including 6 adults (2 males and 4 females) with repaired cleft palate (M = 32.5 years of age, SD = 17.4 years) and 30 adults (15 males and 15 females) without cleft palate (M = 23.3 years of age, SD = 4.1 years), participated in the study. Fourteen velopharyngeal measures were obtained on magnetic resonance images and compared between groups (cleft and noncleft). After adjusting for body size and sex effects, there was a statistically significant difference between groups for 10 out of the 14 velopharyngeal measures. Compared to those without cleft palate, participants with repaired cleft palate had a significantly shorter hard palate height and length, shorter levator muscle length, shorter intravelar segment, more acute levator angles of origin, shorter and thinner velum, and greater pharyngeal depth. Although significant differences were evident in the cleft palate group, individuals displayed normal resonance. These findings suggest that a wide variability in velopharyngeal anatomy can occur in the presence of normal resonance, particularly for those with repaired cleft palate. Future research is needed to understand how anatomic variability impacts function, such as during speech.

  1. Branchial cleft anomalies and their mimics: computed tomographic evaluation

    International Nuclear Information System (INIS)

    Harnsberger, H.R.; Mancuso, A.A.; Muraki, A.S.; Byrd, S.E.; Dillon, W.P.; Johnson, L.P.; Hanafee, W.N.

    1984-01-01

    A review was made of the clinical records and radiographic examinations of 38 patients with neck lesions clinically suspected of being branchial cleft anomalies. The impact of computed tomography in this sometimes confusing clinical picture was assessed and CT criteria for diagnosing branchial cleft anomalies (BCAs) and differentiating them from their mimics were identified. Seventeen branchial cleft anomalies and 21 BCA mimics were evaluated. A definitive CT diagnosis of second branchial cleft cysts based on characteristic morphology, location, and displacement of surrounding structures was possible in 80% of cases. CT was found to be the best radiographic examination in making a definitive diagnosis of BCA if a neck mass was present

  2. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

    Directory of Open Access Journals (Sweden)

    Reema Sharma Dhar

    2014-01-01

    Full Text Available Ectrodactyly-ectodermal dysplasia-cleft (EEC syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

  3. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.

    Science.gov (United States)

    Dhar, Reema Sharma; Bora, Amitava

    2014-01-01

    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

  4. The development of speech production in children with cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Chapman, Kathy

    2012-01-01

    The purpose of this chapter is to provide an overview of speech development of children with cleft palate +/- cleft lip. The chapter will begin with a discussion of the impact of clefting on speech. Next, we will provide a brief description of those factors impacting speech development...... for this population of children. Finally, research examining various aspects of speech development of infants and young children with cleft palate (birth to age five) will be reviewed. This final section will be organized by typical stages of speech sound development (e.g., prespeech, the early word stage...

  5. Intrasellar abscess simultaning a Rathke's cleft cyst

    International Nuclear Information System (INIS)

    Nakashima, Toshihiko; Murakawa, Takatsugu; Iwai, Tomohiko; Hirata, Toshifumi; Sakai, Noboru

    1983-01-01

    Both symptomatic Rathke's cleft cyst and intrasellar abscess are exceedingly rare. We present a case of intrasellar abscess developed in a Rathke's cleft cyst. A 60-year-old man was admitted to our hospital with complaints of polyuria, polydipsia, headache, and remittent fever. On admission, his neurological and ophthalmological examination was normal. Panhypopituitarism was revealed by endocrine testing. Plain-skull X-ray films showed no abnormalities, but a CT scan showed a small cystic lesion with a ring-like enhancement in the sella turcica and paranasal sinusitis. Further sagittal reconstruction of the CT scan demonstrated that the diaphragma sellae protruded upwards and that the pituitary stalk was markedly enhanced and enlarged. After the sinusitis improved, transsphenoidal surgery was carried out. Approximately 1 ml of the purulent contents were aspirated from the intrasellar region. The postoperative course was uneventful. A histological examination of the abscess wall revealed a ciliated columnar epithelium and inflammatory-cell infiltration beneath the epithelium. (author)

  6. A study of nasal cavity volume in patients with cleft lip and palate by magnetic resonance imaging

    International Nuclear Information System (INIS)

    Nakano, Kenichi

    1996-01-01

    Nasal cavity volume was studied in 11 patients with cleft lip and palate by magnetic resonance imaging. The areas of horizontal sections of the nasal cavity on the cleft and non-cleft sides were measured with the help of a personal computer and image analyzing software. Nasal cavity volume was determined by integrated volume calculation. The volume of each side was measured before and after cleft lip repair. Before cleft lip repair nasal cavity volume on the non-cleft side was larger than on the cleft side. However there was no significant difference in the volume of the cleft and non-cleft sides after cleft lip repair. (author)

  7. A study of nasal cavity volume in patients with cleft lip and palate by magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Nakano, Kenichi [Showa Univ., Tokyo (Japan). School of Medicine

    1996-02-01

    Nasal cavity volume was studied in 11 patients with cleft lip and palate by magnetic resonance imaging. The areas of horizontal sections of the nasal cavity on the cleft and non-cleft sides were measured with the help of a personal computer and image analyzing software. Nasal cavity volume was determined by integrated volume calculation. The volume of each side was measured before and after cleft lip repair. Before cleft lip repair nasal cavity volume on the non-cleft side was larger than on the cleft side. However there was no significant difference in the volume of the cleft and non-cleft sides after cleft lip repair. (author)

  8. Fenda cervical mediana Midline cervical cleft

    Directory of Open Access Journals (Sweden)

    José V. Tagliarini

    2004-10-01

    Full Text Available A fenda mediana congênita do pescoço é anomalia rara da parte ventral do pescoço. Em torno de 100 casos foram relatados na literatura, sendo o primeiro caso descrito por Bailey em 1924. Este defeito é relatado em associação com fenda mediana do lábio inferior, fenda da mandíbula e da língua, e hipoplasia de outras estruturas cervicais medianas. Acredita-se que seja uma malformação originada dos dois primeiros arcos branquiais. O tratamento da lesão consiste na excisão vertical da lesão e reparação do defeito resultante. A maioria dos autores recomenda evitar a reparação simples da lesão, preferindo a fechamento com a utilização de zetaplastia múltiplas, com o intuito de evitar fibrose e retração local. Neste artigo relatamos dois casos dessa anomalia e realizamos revisão bibliográfica.The midline cervical cleft is an unusual congenital anomaly of the ventral neck and fewer than 100 cases have been reported overall and the first described by Bailey in 1924. This anomaly is report in association with median cleft of lower lip, cleft mandible and tongue, and hypoplasia of other midline neck structures. Its considered an anomaly originated from the two first branchial arches. The treatment of this cleft is a vertical complete excision and a closure with multiple Z-plasty. Many authors recommend avoid linear closure and prefer multiple Z-plasty for evicted fibrosis and local retraction. In this paper we report 2 case of this anomaly and the literature is reviewed.

  9. Economic Valuation of the Global Burden of Cleft Disease Averted by a Large Cleft Charity.

    Science.gov (United States)

    Poenaru, Dan; Lin, Dan; Corlew, Scott

    2016-05-01

    This study attempts to quantify the burden of disease averted through the global surgical work of a large cleft charity, and estimate the economic impact of this effort over a 10-year period. Anonymized data of all primary cleft lip and cleft palate procedures in the Smile Train database were analyzed and disability-adjusted life years (DALYs) calculated using country-specific life expectancy tables, established disability weights, and estimated success of surgery and residual disability probabilities; multiple age weighting and discounting permutations were included. Averted DALYs were calculated and gross national income (GNI) per capita was then multiplied by averted DALYs to estimate economic gains. 548,147 primary cleft procedures were performed in 83 countries between 2001 and 2011. 547,769 records contained complete data available for the study; 58 % were cleft lip and 42 % cleft palate. Averted DALYs ranged between 1.46 and 4.95 M. The mean economic impact ranged between USD 5510 and 50,634 per person. This corresponded to a global economic impact of between USD 3.0B and 27.7B USD, depending on the DALY and GNI values used. The estimated cost of providing these procedures based on an average reimbursement rate was USD 197M (0.7-6.6 % of the estimated impact). The immense economic gain realized through procedures focused on a small proportion of the surgical burden of disease highlights the importance and cost-effectiveness of surgical treatment globally. This methodology can be applied to evaluate interventions for other conditions, and for evidence-based health care resource allocation.

  10. Development and Evaluation of a Blog about Cleft Lip and Cleft Palate and Hearing.

    Science.gov (United States)

    Maximino, Luciana Paula; Zambonato, Ticiana Cristina de Freitas; Picolini-Pereira, Mirela Machado; Castro Corrêa, Camila de; Feniman, Mariza Ribeiro; Blasca, Wanderléia Quinhoneiro

    2018-01-01

    Introduction  Cleft lip and cleft palate can result in impairments in communication, specifically in hearing, making the use of technological resources such as blogs a fundamental guideline for health professionals. Objective  The aim of this study was to prepare and analyze the access to a blog about cleft lip and cleft palate and hearing as a pedagogical tool for health professionals. Methods  The first stage for the development of the blog was the selection of the content that would be addressed and the respective illustrations. The second stage was making the blog available through the WordPress platform, and the third stage included the evaluation of the blog, of the access to the WordPress statistical features, and of the quality of the blog through the Emory questionnaire, which was answered by 75 professionals. Results  The blog, titled "Fissure and Hearing", was developed with the architecture of a digital information environment containing a system of organization, navigation, labeling and search (first stage). The address hosting the blog was: http://fissuraeaudicao.wordpress.com (second stage). The result of the third stage included 56,269 views of the blog from different countries, and Brazil was the country with the highest viewing. Regarding the assessment by the Emory questionnaire, we found that for most of the major issues, the percentages obtained were or equal to 90%, while the analysis of the scales, navigation and structure presented the lowest scores. Conclusion  The blog was developed and enabled greater access to information available on the web about cleft lip and cleft palate and hearing.

  11. [Surgical treatment of first branchial cleft anomaly].

    Science.gov (United States)

    Xiao, Hongjun; Kong, Weijia; Gong, Shusheng; Wang, Jibao; Liu, Shiying; Shi, Hong

    2005-10-01

    To identify the clinical and anatomical presentations and to discuss the guidelines for surgical management of anomalies of the first branchial cleft. Twenty-one patients with first branchial cleft anomalies were treated in our department between January 1994 and December 2004, their clinical data were retrospectively analysed. Surgery was performed on all patients. Among them 13 were males and 8 females, ranging in age from 1.5 to 33 years with an average of 15 years. Anatomically, 3 types of first branchial cleft anomalies were identified: fistulas (n = 17), cysts (n = 2), and fistula combined with cyst (n = 2). Before definitive surgery, soma patients (n = 4) underwent incision and drainage for infection owing to the difficulties in diagnosing this anomaly. Methylthioninium Chloride was used in almost all cases for tracking the fistulous during operation. Wide exposure is necessary in many cases,and a standard parotidectomy incision allows adequate exposure of the anomaly and preservation of the facial nerve. Complete removal without complications depends on a good understanding of regional embryogenesis, an awareness of the different anatomical presentations, and a readiness to identify and protect the facial nerve during resection.

  12. Presurgical Unilateral Cleft Lip Anthropometrics and the Presence of Dental Anomalies.

    Science.gov (United States)

    Antonarakis, Gregory S; Fisher, David M

    2015-07-01

    To investigate associations between cleft lip anthropometrics and dental anomalies in the permanent dentition in unilateral cleft lip patients. Retrospective cross-sectional study. Children with unilateral clefts of the lip, with or without cleft palate. Anthropometric lip measurements, made immediately prior to lip repair, were available for each patient. The presence of dental anomalies in the permanent dentition was assessed radiographically. The presence of associations between anthropometric lip measurements and prevalence rates of different dental anomalies were determined using logistic regression analyses. In the 122 included patients, the cleft lateral lip element was deficient in height in 80% and in transverse length in 84% of patients. Patients with more deficient cleft side lateral lip height and less deficient cleft side lateral lip transverse length were more likely to present with cleft side maxillary lateral incisor agenesis. On the other hand, patients with a less deficient cleft side lateral lip height and more deficient cleft side lateral lip transverse length were more likely to present with a cleft side supernumerary maxillary lateral incisor. When looking only at incomplete clefts, the cleft side lateral lip transverse length deficiency was more predictive of the presence of supernumerary maxillary lateral incisors (P = .030), while for complete clefts, the cleft side lateral lip height deficiency was more predictive of the presence of maxillary lateral incisor agenesis (P = .035). In patients with unilateral clefts, cleft lip anthropometrics have a predictive role in determining the occurrence of dental anomalies.

  13. [A retrospective study of orthodontic treatment of children with clefts].

    Science.gov (United States)

    Brin, I; Bar-Abudi, R; Abed, Y; Ben-Bassat, Y; Harari, D; Zilberman, Y

    2003-04-01

    To evaluate the population of cleft patients treated in a Department of Orthodontics and the types of treatment modalities provided. Demographic, cleft related and treatment related data existing in the patients' files were supplemented by questionnaires. Comparisons were conducted among 3 cleft groups: cleft lip (CL), cleft lip and palate (CLP) and cleft palate (CP). The response rate was 36% (n = 152). The distribution of the patients in the 3 cleft groups, the sidedness, the male predominance and association with additional anomalies were similar to the reports in the literature. Most of the patients were the 3rd born (or more) and were of normal birth weight. Consanguity in the cleft families was at least 2.5 times more prevalent than that of the Israeli population and 30% reported on additional cleft in the family. Low birth weight and additional anomalies were found mainly in the CP group. Orthodontic involvement spanned 3 developmental periods: immediate postnatal presurgical treatment, phase I between the ages 6-8 years and full orthodontic treatment at a later age. Up to the age of 5 years only one lip operation was performed for 60% of the lip-affected children and one palate operation for 65% of the palate affected patients. 1. The distribution of the various cleft-related parameters in this retrospective study was similar to the findings in the literature. 2. The high prevalence of additional anomalies found emphasizes the need for a thorough examination of the cleft babies. 3. Orthodontic treatment was rendered in one and two phase protocols in addition to immediate postnatal pre-surgical intervention.

  14. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

    Science.gov (United States)

    Yu, Yongguo; Yao, RuEn; Wang, Lili; Fan, Yanjie; Huang, Xiaodong; Hirschhorn, Joel; Dauber, Andrew; Shen, Yiping

    2015-09-16

    Human height is a complex trait with a strong genetic basis. Recently, a significant association between rare copy number variations (CNVs) and short stature has been identified, and candidate genes in these rare CNVs are being explored. This study aims to evaluate the association between mutations in ARID1B gene and short stature, both the syndromic and non-syndromic form. Based on a case-control study of whole genome chromosome microarray analysis (CMA), three overlapping CNVs were identified in patients with developmental disorders who exhibited short stature. ARID1B, a causal gene for Coffin Siris syndrome, is the only gene encompassed by all three CNVs. A following retrospective genotype-phenotype analysis based on a literature review confirmed that short stature is a frequent feature in those Coffin-Siris syndrome patients with ARID1B mutations. Mutation screening of ARID1B coding regions was further conducted in a cohort of 48 non-syndromic short stature patients,andfour novel missense variants including two de novo mutations were found. These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature. This study supports the notion that mutations in genes related to syndromic short stature may exert milder effect and contribute to short stature in the general population.

  15. Perceptual Speech Assessment After Anterior Maxillary Distraction in Patients With Cleft Maxillary Hypoplasia.

    Science.gov (United States)

    Richardson, Sunil; Seelan, Nikkie S; Selvaraj, Dhivakar; Khandeparker, Rakshit V; Gnanamony, Sangeetha

    2016-06-01

    To assess speech outcomes after anterior maxillary distraction (AMD) in patients with cleft-related maxillary hypoplasia. Fifty-eight patients at least 10 years old with cleft-related maxillary hypoplasia were included in this study irrespective of gender, type of cleft lip and palate, and amount of required advancement. AMD was carried out in all patients using a tooth-borne palatal distractor by a single oral and maxillofacial surgeon. Perceptual speech assessment was performed by 2 speech language pathologists preoperatively, before placement of the distractor device, and 6 months postoperatively using the scoring system of Perkins et al (Plast Reconstr Surg 116:72, 2005); the system evaluates velopharyngeal insufficiency (VPI), resonance, nasal air emission, articulation errors, and intelligibility. The data obtained were tabulated and subjected to statistical analysis using Wilcoxon signed rank test. A P value less than .05 was considered significant. Eight patients were lost to follow-up. At 6-month follow-up, improvements of 62% (n = 31), 64% (n = 32), 50% (n = 25), 68% (n = 34), and 70% (n = 35) in VPI, resonance, nasal air emission, articulation, and intelligibility, respectively, were observed, with worsening of all parameters in 1 patient (2%). The results for all tested parameters were highly significant (P ≤ .001). AMD offers a substantial improvement in speech for all 5 parameters of perceptual speech assessment. Copyright © 2016 The American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  16. A method of pre-surgical oral orthopaedics.

    Science.gov (United States)

    DiBiase, D D; Hunter, S B

    1983-01-01

    A preliminary report of a technique of pre-surgical treatment in cleft lip and palate patients is outlined utilizing an adjustable intra-oral appliance with extra-oral strapping. The appliance is constructed with an adjustable spring for expansion and two shelves overlapping in the midline to allow palatal continuity during treatment. Frequently, only one appliance for each patient is required. The techniques of appliance construction, pre-surgical management and surgical repair of the lip are outlined.

  17. Prevalence of cleft lip and palate among four provinces in the West and North-West of Iran

    Directory of Open Access Journals (Sweden)

    Nahid Jalilevand

    2015-01-01

    Full Text Available 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, 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.

  18. Rare craniofacial clefts in Ibadan | Iyun | Nigerian Journal of Plastic ...

    African Journals Online (AJOL)

    Introduction: Congenital craniofacial clefts are anatomical distortions of the face and cranium with deficiencies of excess of tissue in a linear pattern. The exact incidence of craniofacial clefts is unknown because cases are rare and series tend to be small. The aim of this study is to document our experience with congenital ...

  19. Teaching Palatoplasty Using a High-Fidelity Cleft Palate Simulator.

    Science.gov (United States)

    Cheng, Homan; Podolsky, Dale J; Fisher, David M; Wong, Karen W; Lorenz, H Peter; Khosla, Rohit K; Drake, James M; Forrest, Christopher R

    2018-01-01

    Cleft palate repair is a challenging procedure for cleft surgeons to teach. A novel high-fidelity cleft palate simulator has been described for surgeon training. This study evaluates the simulator's effect on surgeon procedural confidence and palatoplasty knowledge among learners. Plastic surgery trainees attended a palatoplasty workshop consisting of a didactic session on cleft palate anatomy and repair followed by a simulation session. Participants completed a procedural confidence questionnaire and palatoplasty knowledge test immediately before and after the workshop. All participants reported significantly higher procedural confidence following the workshop (p cleft palate surgery experience had higher procedural confidence before (p cleft palate experience did not have higher mean baseline test scores than those with no experience (30 percent versus 28 percent; p > 0.05), but did have significantly higher scores after the workshop (61 percent versus 35 percent; p cleft palate simulator as a training tool to teach palatoplasty. Improved procedural confidence and knowledge were observed after a single session, with benefits seen among trainees both with and without previous cleft experience.

  20. COMPREHENSIVE EVALUATIVE TECHNIQUES FOR THE CHILD WITH A CLEFT PALATE.

    Science.gov (United States)

    BENSEN, JACK F.; WHITE, FRAZER D.

    A MULTIDISCIPLINARY APPROACH TO CHILDREN WITH CLEFT PALATES IS DESCRIBED. THE SOUTH FLORIDA CLEFT PALATE CLINIC, REPRESENTING NINE PROFESSIONAL SPECIALTIES, MEETS WEEKLY TO SEE SIX OR SEVEN CASES. SPEECH PERFORMANCE IS RECORDED ON SIX DIAGNOSTIC, DATA COLLECTING FORMS WHICH PROVIDE A BASIS FOR RECORDING CLINICAL JUDGMENTS. PROGNOSIS AND…

  1. We can predict postpalatoplasty velopharyngeal insufficiency in cleft palate patients.

    Science.gov (United States)

    Leclerc, Jacques E; Godbout, Audrey; Arteau-Gauthier, Isabelle; Lacour, Sophie; Abel, Kati; McConnell, Elisa-Maude

    2014-02-01

    To find an anatomical measurement of the cleft palate (or a calculated parameter) that predicts the occurrence of velopharyngeal insufficiency (VPI) after palatal cleft repair. Retrospective cohort study. Charts were reviewed from cleft palate patients who underwent palatoplasty by the Von Langenbeck technique for isolated cleft palate or Bardach two-flap palatoplasty for cleft lip-palate. Seven anatomical cleft parameters were prospectively measured during the palatoplasty procedure. Three blinded speech-language pathologists retrospectively scored the clinically assessed VPI at 4 years of age. The recommendation of pharyngoplasty was also used as an indicator of VPI. From 1993 to 2008, 67 patients were enrolled in the study. The best predicting parameter was the ratio a/(30 - b1), in which a is defined as the posterior gap between the soft palate and the posterior pharyngeal wall and b1 is the width of the cleft at the hard palate level. An a/(30 - b1) ratio >0.7 to 0.8 is associated with a higher risk of developing VPI (relative risk = 2.2-5.1, sensitivity = 72%-81%, P cleft at the hard palate level and the posterior gap between the soft palate and the posterior pharyngeal wall were found to be the most significant parameters in predicting VPI. The best correlation was obtained with the ratio a/(30 - b1). 4. Copyright © 2013 The American Laryngological, Rhinological and Otological Society, Inc.

  2. THIRD BRANCHIAL CLEFT CYST PRESENTATION IN ADULTHOOD: A CASE REPORT

    OpenAIRE

    Srinjeeta Garg; Yuvraj Patil; Karan Vayangankar; Adip Shetty; Haritosh Kamalakar Velankar

    2014-01-01

    Third branchial cleft cysts (BCCs) are rare entities that represent abnormal persistence of the branchial apparatus. Most cases of third branchial cleft cysts (BCCs) are diagnosed in childhood and show a marked preference for the left side. However, here we present this rare anomaly in a 40 year old female which presented as a fast growing swelling in adulthood.

  3. Management of cleft lip and palate in Nigeria: A survey ...

    African Journals Online (AJOL)

    Background: Clefts of the lip and/or palate are the most common congenital craniofacial defects and second only to club foot among all congenital anomalies. The management of this condition is resource intensive due to the multidimensional needs. This survey was carried out to ascertain the current state of cleft ...

  4. Perioperative adverse airway events in cleft lip and palate repair ...

    African Journals Online (AJOL)

    Background: Airway-related problems account for the majority of anaesthetic morbidity in paediatric anaesthesia, but more so for cleft lip and palate repair. The aim of this study was to assess the frequency, pattern, management and outcome of adverse airway events during the perioperative period in cleft lip and palate ...

  5. Transverse facial cleft: A series of 17 cases

    Directory of Open Access Journals (Sweden)

    L K Makhija

    2011-01-01

    Full Text Available Introduction: Transverse facial cleft (Tessier type 7 or congenital macrostomia is a rare congenital anomaly seldom occurring alone and is frequently associated with deformities of the structures developing from the first and second branchial arches. The reported incidence of No. 7 cleft varies from 1 in 60,000 to 1 in 300,000 live births. Material and Methods: Seventeen patients of transeverse facial cleft who presented to us in last 5 years were included in the study. Their history regarding familial and environmental predispositions was recorded. The cases were analysed on basis of sex, laterality, severity, associated anomalies and were graded according to severity. They were operated by z plasty technique and were followed up for 2 years to look for effectiveness of the technique and its complications. Result: Out of the seventeen patients of transverse cleft, none had familial predilection or any environmental etiology like antenatal radiological exposure or intake of drugs of teratogenic potential. Most of the patients (9/17 were associated with hemifacial microsomia and 1 patient was associated with Treacher Colin′s Syndrome. Out of the 6 cases of Grade I clefts, 4 were isolated transverse clefts and of the 10 patients of Grade II clefts, 7 were associated with hemifacial microsomia. We encountered only one case of Grade III Transverse Cleft which was not only associated with hemifacial microsomia but also had cardiac anomaly. Out of the17 cases, 15 were operated and in most of them the outcome was satisfactory.

  6. The nose in children with unilateral cleft lip and palate

    NARCIS (Netherlands)

    Verwoerd, C. D.; Mladina, R.; Nolst Trenité, G. J.; Pigott, R. W.

    1995-01-01

    Surgeons and orthodontists are still challenged to achieve 'better' noses for children with a unilateral cleft or lip, alveoulus and palate (UCLP). Various aspects are discussed: infant anatomy and later changes, developmental mechanics, cleft syndrome in animals with surgically produced facial

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

    Science.gov (United States)

    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…

  8. Awareness, knowledge and attitude on cleft lip and palate among ...

    African Journals Online (AJOL)

    2012-11-09

    Nov 9, 2012 ... negative beliefs and attitudes toward the condition. The objective of this ... Conclusion: There is need for increased public enlightenment/health education to increase awareness and subsequently ... The parent's feelings about their child's cleft defect ..... Gene/environment causes of cleft lip and/or palate.

  9. Presurgical cleft lip and palate orthopedics: an overview

    Directory of Open Access Journals (Sweden)

    Alzain I

    2017-05-01

    Full Text Available Ibtesam Alzain,1 Waeil Batwa,2 Alex Cash,3 Zuhair A Murshid2 1Pediatric Dentistry, 2Orthodontic Department, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia; 3Cleft Lip and Palate Orthodontics, Queen Victoria NHS Foundation Trust, South Thames Cleft Service, London, UK Abstract: Patients with cleft lip and/or palate go through a lifelong journey of multidisciplinary care, starting from before birth and extending until adulthood. Presurgical orthopedic (PSO treatment is one of the earliest stages of this care plan. In this paper we provide a review of the PSO treatment. This review should help general and specialist dentists to better understand the cleft patient care path and to be able to answer patient queries more efficiently. The objectives of this paper were to review the basic principles of PSO treatment, the various types of techniques used in this therapy, and the protocol followed, and to critically evaluate the advantages and disadvantages of some of these techniques. In conclusion, we believe that PSO treatment, specifically nasoalveolar molding, does help to approximate the segments of the cleft maxilla and does reduce the intersegment space in readiness for the surgical closure of cleft sites. However, what we remain unable to prove equivocally at this point is whether the reduction in the dimensions of the cleft presurgically and the manipulation of the nasal complex benefit our patients in the long term. Keywords: presurgical orthopedic, nasoalveolar molding, cleft lip and palate

  10. Smile Train: The ascendancy of cleft care in India

    Directory of Open Access Journals (Sweden)

    Singh Subodh

    2009-10-01

    Full Text Available Though India has an estimated population of one million untreated cleft patients, facilities for its treatment have been limited and are not evenly distributed across the country. Furthermore, a paucity of committed cleft surgeons in fewer hospitals to provide quality surgical treatment to these patients, poverty, illiteracy, superstitions and poor connectivity in some remote regions severely limit the chances of an average cleft lip patient born in India from receiving rational and effective comprehensive treatment for his/her malady. The Smile Train Project with its singular focus on cleft patients started its philanthropic activities in India in the year 2000. It made hospitals and included clefts surgeon equal partners in this programme and helped them treat as many cleft patients as they possibly could. The Project encouraged improvement of the training and infrastructure in various centres across the length and breadth of the region. The Project received an unprecedented success in terms of growth of number of centres, cleft surgeons and quantum of cleft patients reporting for treatment. The G S Memorial Hospital is one such partner hospital. It started innovative outreach programmes and took a holistic view of the needs of these patients and their families. With the support of the Smile Train, it has not only succeeded in providing treatment to more than 14,500 patients in 5 years, but has also devised innovative outreach programmes and seamlessly incorporated salient changes in the hospital system to suit the needs of the target population.

  11. The nose in children with unilateral cleft lip and palate

    NARCIS (Netherlands)

    C.D.A. Verwoerd (Carel); R. Mladina (R.); G.J. Nolst-Trenité (Gilbert J.); R.W. Pigott (R.)

    1995-01-01

    textabstractSurgeons and orthodontists are still challenged to achieve ‘better’ noses for children with a unilateral cleft or lip, alveolus and palate (UCLP). Various aspects are discussed: infant anatomy and later changes, developmental mechanics, cleft syndrome in animals with surgically produced

  12. Assessing the effectiveness of massage therapy for bilateral cleft lip reconstruction scars.

    Science.gov (United States)

    McKay, Emilie

    2014-06-01

    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. 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 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. The evidence suggests that massage therapy helped with the impairments associated with scars formed by bilateral cleft lip reconstruction.

  13. Communicative abilities in toddlers and in early school age children with cleft palate

    NARCIS (Netherlands)

    Ruiter, Jolien S.; Korsten-Meijer, Astrid G. W.; Goorhuis-Brouwer, Siena M.

    Objectives: Evaluation of improvement in communicative abilities in children with nonsyndromic cleft palate. Methods: Longitudinal retrospective case history Study. Out of 117 children with cleft lip and/or cleft palate born in 1998, 1999 and 2000 and enrolled in the cleft palate team of the

  14. Craniofacial morphology in unoperated infants with isolated cleft palate. A cephalometric analysis in three projections

    DEFF Research Database (Denmark)

    Hermann, N.V.; Kreiborg, S.; Jensen, B.L.

    58th Annual Meeting of the American Cleft Palate-Craniofacial Association, Minneapolis, Craniofacial morphology, unoperated infants, isolated cleft palate, cephalometric analysis, three projections......58th Annual Meeting of the American Cleft Palate-Craniofacial Association, Minneapolis, Craniofacial morphology, unoperated infants, isolated cleft palate, cephalometric analysis, three projections...

  15. Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes

    DEFF Research Database (Denmark)

    Carlson, Jenna C; Standley, Jennifer; Petrin, Aline

    2017-01-01

    Orofacial clefts (OFCs) are common, complex birth defects with extremely heterogeneous phenotypic presentations. Two common subtypes-cleft lip alone (CL) and CL plus cleft palate (CLP)-are typically grouped into a single phenotype for genetic analysis (i.e., CL with or without cleft palate, CL/P)...

  16. Cross-linguistic perspectives on speech assessment in cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Henningsson, Gunilla

    2012-01-01

    . Finally, the influence of different languages on some aspects of language acquisition in young children with cleft palate is presented and discussed. Until recently, not much has been written about cross linguistic perspectives when dealing with cleft palate speech. Most literature about assessment......This chapter deals with cross linguistic perspectives that need to be taken into account when comparing speech assessment and speech outcome obtained from cleft palate speakers of different languages. Firstly, an overview of consonants and vowels vulnerable to the cleft condition is presented. Then......, consequences for assessment of cleft palate speech by native versus non-native speakers of a language are discussed, as well as the use of phonemic versus phonetic transcription in cross linguistic studies. Specific recommendations for the construction of speech samples in cross linguistic studies are given...

  17. Possible Estrogen Dependency in the Pathogenesis of Branchial Cleft Cysts

    Directory of Open Access Journals (Sweden)

    Jan D. Raguse

    2017-01-01

    Full Text Available Background. Even though branchial cleft cysts are currently accepted as a congenital anomaly, there is often a long delay until clinical presentation; branchial cleft cysts classically appear in the second to fourth decade of life. Our observation of their occurrence in three pregnant women encouraged us to contemplate a possible hormonal influence. Methods. Immunohistological analysis was performed for the evaluation of the estrogen receptor alpha (ERα in paraffin-embedded tissue specimens of 16 patients with a diagnosis of branchial cleft cyst, with three of them being pregnant. Results. Expression of ERα was detected within epithelial cells only in branchial cleft cysts in pregnant females; moreover, higher growth fractions (Ki-67/Mib1 were found. Conclusion. The fact that the estrogen receptor was expressed only in pregnant women, in contrast to 13 investigated cases, may suggest that the high level of estrogen in pregnancy is a possible explanation for the spontaneous growth of branchial cleft cysts.

  18. Possible Estrogen Dependency in the Pathogenesis of Branchial Cleft Cysts.

    Science.gov (United States)

    Raguse, Jan D; Anagnostopoulos, Ioannis; Doll, Christian; Heiland, Max; Jöhrens, Korinna

    2017-01-01

    Even though branchial cleft cysts are currently accepted as a congenital anomaly, there is often a long delay until clinical presentation; branchial cleft cysts classically appear in the second to fourth decade of life. Our observation of their occurrence in three pregnant women encouraged us to contemplate a possible hormonal influence. Immunohistological analysis was performed for the evaluation of the estrogen receptor alpha (ER α ) in paraffin-embedded tissue specimens of 16 patients with a diagnosis of branchial cleft cyst, with three of them being pregnant. Expression of ER α was detected within epithelial cells only in branchial cleft cysts in pregnant females; moreover, higher growth fractions (Ki-67/Mib1) were found. The fact that the estrogen receptor was expressed only in pregnant women, in contrast to 13 investigated cases, may suggest that the high level of estrogen in pregnancy is a possible explanation for the spontaneous growth of branchial cleft cysts.

  19. [Recurrent neck abscess due to a branchial cleft remnant].

    Science.gov (United States)

    Kruijff, Schelto; Mastboom, Walter J; Vriens, Menno R; Sidhu, Stan B; Delbridge, Leigh W

    2013-01-01

    Abscesses arising from a third or fourth branchial cleft remnant are uncommon clinical entities and are often not recognised in a timely manner. In a 33-year-old female patient with a recurrent abscess in the left side of her neck, the cause turned out to be a fistula in the third branchial cleft remnant. She was treated initially with antibiotics and prednisone without adequate results. When the abscess was finally surgically drained, she became very ill and was admitted to the ICU with sepsis and multiple organ failure. She was discharged from hospital after six weeks. Four months later, a third-branchial cleft remnant was found during pharyngoscopy, immediately after which the cleft remnant fistula was excised and an ipsilateral hemi-thyroidectomy was performed. In young patients with recurring peri-thyroidal abscesses, a branchial cleft remnant should be considered a causative factor; this could avoid high morbidity and a delay in the appropriate treatment.

  20. Archwise distraction appliance: A novel approach for developing facial and dental esthetics in cleft lip and palate patients

    Directory of Open Access Journals (Sweden)

    Nejat Erverdi

    2015-01-01

    Full Text Available Cleft lip and palate (CLP is defined as a congenital deformity caused by failed fusion of medial and lateral palatine processes during 4-12 th weeks of embryogenesis, resulting in an open communication between oral and nasal cavities. In CLP patients, maxillary hypoplasia, velopharyngeal insufficiency, and alveolar clefts are the major issues that have to be taken care of after labiopalatal reconstruction. Rather than several consecutive operations, such as bone-grafting and orthognathic surgery, alveolar distraction can be a better treatment option in many cases. Archwise Distraction Appliance (AWDA is a rigid, tooth-borne, custom-made appliance that is developed to control the distraction vector with double archwire system. Our experiences show that the AWDA is a successful appliance in cases of distraction osteogenesis. Moreover, alveolar distraction has significant advantages over conventional treatment modalities for CLP patients.

  1. The Association study of nonsyndromic cleft lip with or without cleft ...

    Indian Academy of Sciences (India)

    Navya

    2016-11-25

    Nov 25, 2016 ... 12 Maternal and Children Metabolic-Genetic Key Laboratory, ... performed association analysis with NSCL/P in 504 cases and 455 healthy controls. Our ... GLI3 morphopathies have distinct clinical characteristics, the ..... Wehby G. L., Cassell C. H. 2010 The impact of orofacial clefts on quality of life and.

  2. #Cleft: The use of Social Media Amongst Parents of Infants with Clefts.

    Science.gov (United States)

    Khouri, Joseph S; McCheyne, Melisande J; Morrison, Clinton S

    2018-01-01

    Introduction Many societies and organizations are using social media to reach their target audience. The extent to which parents of patients with craniofacial anomalies use social media has yet to be determined. The goal of this study is to characterize and describe the use of social media by the parents of children with cleft lip and palate as it pertains to the care of their child. Materials and Methods Parents or guardian of all patients presenting for initial consultation regarding a child's congenital cleft anomaly were contacted by phone or mail to complete a survey regarding their use of social media vis-à-vis their child's cleft anomaly. Participants were asked to answer a 19-question survey. Results Thirty-two families were contacted and 25 surveys were completed. Ninety-two percent of respondents used social media to learn about their child's diagnosis. Facebook (76%) and blogs (24%) were the most commonly accessed social media outlets, followed by Instagram (8%). Education about the diagnosis and treatment of cleft pathology (87%) was the most common reason for accessing social media, followed by companionship and support (56%), and advice about perioperative care (52%). Almost half (43%) of parents used social media to obtain information on their caregiver and treatment team, and 26% of parents used information gained on social media to guide their decision on where to seek care. Conclusion Social media is a readily available resource, one that will certainly shape the experiences of our patients and families for years to come.

  3. Dental anomalies in different cleft groups related to neural crest developmental fields contributes to the understanding of cleft aetiology

    DEFF Research Database (Denmark)

    Riis, Louise Claudius; Kjær, Inger; Mølsted, Kirsten

    2014-01-01

    OBJECTIVE: To analyze dental deviations in three cleft groups and relate findings to embryological neural crest fields (frontonasal, maxillary, and palatal). The overall purpose was to evaluate how fields are involved in different cleft types. DESIGN: Retrospective audit of clinical photographs...

  4. Lateral cervical cleft: a previously unreported anomaly resulting from incomplete disappearance of the second pharyngeal (branchial) cleft.

    Science.gov (United States)

    Gürsoy, M H; Gedikoğlu, G; Tanyel, F C

    1999-03-01

    The authors present a 2-year-old boy with a skin defect located in the right lateral side of the neck. They suggest the defect is a partial failure of disappearance of the second pharyngeal (branchial) cleft and propose a name of lateral cervical cleft.

  5. Craniofacial morphology in complete unilateral cleft lip and palate patients consecutively treated with 1-stage repair of the cleft.

    NARCIS (Netherlands)

    Fudalej, P.S.; Surowiec, Z.; Offert, B.; Dudkiewicz, Z.; Katsaros, C.

    2010-01-01

    OBJECTIVE: To retrospectively evaluate the craniofacial morphology of children with a complete unilateral cleft lip and palate treated with a 1-stage simultaneous cleft repair performed in the first year of life. METHODS: Cephalograms and extraoral profile photographs of 61 consecutively treated

  6. Maxillary arch width in unoperated adult bilateral cleft lip and alveolus and complete bilateral cleft lip and palate.

    NARCIS (Netherlands)

    Latief, B.S.; Lekkas, C.; Kuijpers, M.A.R.

    2010-01-01

    OBJECTIVES: To study maxillary arch width in adult patients with bilateral cleft lip and alveolus (BCLA) or with complete bilateral cleft lip and palate (BCLP), who have not had any surgery. SETTING AND SAMPLING POPULATION: Eighteen patients with BCLA, 13 patients with BCLP, and 24 controls from

  7. Presurgical nasoalveolar moulding in unilateral cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Mohammed Zuhaib

    2016-01-01

    Full Text Available 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 effi cacy 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, signifi cant 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

  8. Computational analysis of TRAPPC9: candidate gene for autosomal recessive non-syndromic mental retardation.

    Science.gov (United States)

    Khattak, Naureen Aslam; Mir, Asif

    2014-01-01

    Mental retardation (MR)/ intellectual disability (ID) is a neuro-developmental disorder characterized by a low intellectual quotient (IQ) and deficits in adaptive behavior related to everyday life tasks such as delayed language acquisition, social skills or self-help skills with onset before age 18. To date, a few genes (PRSS12, CRBN, CC2D1A, GRIK2, TUSC3, TRAPPC9, TECR, ST3GAL3, MED23, MAN1B1, NSUN1) for autosomal-recessive forms of non syndromic MR (NS-ARMR) have been identified and established in various families with ID. The recently reported candidate gene TRAPPC9 was selected for computational analysis to explore its potentially important role in pathology as it is the only gene for ID reported in more than five different familial cases worldwide. YASARA (12.4.1) was utilized to generate three dimensional structures of the candidate gene TRAPPC9. Hybrid structure prediction was employed. Crystal Structure of a Conserved Metalloprotein From Bacillus Cereus (3D19-C) was selected as best suitable template using position-specific iteration-BLAST. Template (3D19-C) parameters were based on E-value, Z-score and resolution and quality score of 0.32, -1.152, 2.30°A and 0.684 respectively. Model reliability showed 93.1% residues placed in the most favored region with 96.684 quality factor, and overall 0.20 G-factor (dihedrals 0.06 and covalent 0.39 respectively). Protein-Protein docking analysis demonstrated that TRAPPC9 showed strong interactions of the amino acid residues S(253), S(251), Y(256), G(243), D(131) with R(105), Q(425), W(226), N(255), S(233), its functional partner 1KBKB. Protein-protein interacting residues could facilitate the exploration of structural and functional outcomes of wild type and mutated TRAPCC9 protein. Actively involved residues can be used to elucidate the binding properties of the protein, and to develop drug therapy for NS-ARMR patients.

  9. Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

    Directory of Open Access Journals (Sweden)

    Sobia Shafique

    Full Text Available The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness. In the present study a cohort of 30 ARNSHL families was initially screened for mutations in GJB2 and MYO15A. Homozygosity mapping was performed by employing whole genome single nucleotide polymorphism (SNP genotyping in the families that did not carry mutations in GJB2 or MYO15A. Mutation analysis was performed for the known ARNSHL genes present in the homozygous regions to determine the causative mutations. This allowed the identification of a causative mutation in all the 30 families including 9 novel mutations, which were identified in 9 different families (GJB2 (c.598G>A, p.Gly200Arg; MYO15A (c.9948G>A, p.Gln3316Gln; c.3866+1G>A; c.8767C>T, p.Arg2923* and c.8222T>C, p.Phe2741Ser, TMC1 (c.362+18A>G, BSND (c.97G>C, p.Val33Leu, TMPRSS3 (c.726C>G, p.Cys242Trp and MSRB3 (c.20T>G, p.Leu7Arg. Furthermore, 12 recurrent mutations were detected in 21 other families. The 21 identified mutations included 10 (48% missense changes, 4 (19% nonsense mutations, 3 (14% intronic mutations, 2 (9% splice site mutations and 2 (9% frameshift mutations. GJB2 accounted for 53% of the families, while mutations in MYO15A were the second most frequent (13% cause of ARNSHL in these 30 families. The identification of novel as well as recurrent mutations in the present study increases the spectrum of mutations in known deafness genes which could lead to the identification of novel founder mutations and population specific mutated deafness genes causative of ARNSHL. These results provide detailed genetic information that has potential diagnostic implication in the establishment of cost-efficient allele-specific analysis of frequently occurring variants in combination with other reported mutations in Pakistani populations.

  10. [Application of MALDI-TOF-MS in gene testing for non-syndromic hearing loss].

    Science.gov (United States)

    Zeng, Yun; Jiang, Dan; Feng, Da-fei; Jin, Dong-dong; Wu, Xiao-hui; Ding, Yan-li; Zou, Jing

    2013-12-01

    To investigate the feasibility of Matrix-Assisted Laser Desorption-Ionization Time of Flight Mass Spectrometry (MALDI-TOF-MS) , according to the genetic test of non-syndromic hearing loss (NSHL), and check using the direct sequencing. Peripheral blood was collected from 454 NSHL patients. DNA samples were extracted and 20 loci of the four common disease-causing genes were analysed by MALDI-TOF-MS, including GJB2 (35delG, 167delT, 176_191del16, 235delC, 299_300delAT ), GJB3 (538C→T, 547G→A), SLC26A4 (281C→T, 589G→A, IVS7-2A→G, 1174A→T, 1226G→A, 1229C→T, IVS15+5G→A, 1975G→C, 2027T→A, 2162C→T, 2168A→G), and mitochondrial 12S rRNA (1494C→T, 1555A→G). Direct sequencing was also used to analyse the aforementioned 20 loci in order to validate the accuracy of MALDI-TOF-MS. Among the 454 patients, 166 cases (36.56%) of disease-causing mutations were detected, which included 69 cases (21.15%) of GJB2 gene mutation, four cases (0.88%) of GJB3 gene mutation, 64 cases (14.10%) of SLC26A4 gene mutation, and three cases (0.66%) of mitochondrial 12S rRNA gene mutation. Moreover, the results obtained from direct sequencing and MALDI-TOF-MS were consistent, and the results showed that the two methods were consistent. The MALDI-TOF-MS detection method was designed based on the hearing loss-related mutation hotspots seen in the Chinese population, and it has a high detection rate for NSHL related mutations. In comparison to the conventional detection methods, MALDI-TOF-MS has the following advantages: more detection sites, greater coverage, accurate, high throughput and low cost. Therefore, this method is capable of satisfying the needs of clinical detection for hearing impairment and it is suitable for large-scale implementation.

  11. The occurrence of a branchial cleft cyst in the anterior mediastinum: a case report

    International Nuclear Information System (INIS)

    Park, Seong Hoon; Kim, Seong Hoon; Shin, Hyun Woong; Jo, Hyun Chul; Son, Mi Yung; Gong, Joon Hyuk

    2008-01-01

    Branchial cleft cysts and branchial anomalies develop from the branchial cleft apparatus that persists after fetal development. The most common anatomical site for the occurrence of branchial cleft cysts is in the cervical area, generally anterior to the sternomastoid muscle in the upper or middle portion of the neck. A mediastinal branchial cleft cyst is extremely rare and few cases have been reported. We report the case of branchial cleft cyst found in the anterior mediastinum with literature review

  12. The occurrence of a branchial cleft cyst in the anterior mediastinum: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Seong Hoon; Kim, Seong Hoon; Shin, Hyun Woong; Jo, Hyun Chul; Son, Mi Yung; Gong, Joon Hyuk [Daegu Fatima Hospital, Daegu (Korea, Republic of)

    2008-08-15

    Branchial cleft cysts and branchial anomalies develop from the branchial cleft apparatus that persists after fetal development. The most common anatomical site for the occurrence of branchial cleft cysts is in the cervical area, generally anterior to the sternomastoid muscle in the upper or middle portion of the neck. A mediastinal branchial cleft cyst is extremely rare and few cases have been reported. We report the case of branchial cleft cyst found in the anterior mediastinum with literature review.

  13. The Epidemiology of Cleft Lip and Palate in Canada, 1998 to 2007.

    Science.gov (United States)

    Matthews, Jennifer L K; Oddone-Paolucci, Elizabeth; Harrop, Robertston A

    2015-07-01

    To examine the birth prevalence, gender distribution, and pattern of surgical intervention for clefts in Canada (1998 to 2007). Also to highlight the difficulties associated with studying the epidemiology of clefts using the current data collection mechanisms. Epidemiologic data acquired from the Canadian Institute for Health Information. Population-based study in Canada 1998 to 2007. All live births with an International Classification of Diseases (9th or 10th revision) diagnostic code for cleft palate or for cleft lip with or without cleft palate or with a surgical intervention code for repair of cleft lip or cleft palate. Birth prevalence, gender distribution, and pattern of surgical intervention. There were 3,015,325 live births in Canada (1998 to 2007). The mean birth prevalence was 0.82 per 1000 live births for cleft lip with or without cleft palate and 0.58 per 1000 live births for cleft palate. The birth prevalence of cleft lip with or without cleft palate was significantly higher in boys, with a stable boy to girl ratio of 1.75:1. Cleft palate was significantly greater in girls; however, the boy to girl ratio decreased from 0.97:1 in 1998 to 0.59:1 in 2007. The median age of repair in Canada from 1998 to 2007 was 4.7 months for cleft lip and 11.6 months for cleft palate. Thirty percent of patients underwent cleft palate repair after age 1. The birth prevalence of cleft palate and cleft lip with or without cleft palate is stable in Canada. An increasing birth prevalence of cleft palate in girls is suggested. The timing of surgical intervention is consistent with current standards. The challenges associated with collecting these data in Canada are discussed.

  14. [Evaluation and treatment of children's laryngeal clefts].

    Science.gov (United States)

    Chen, C; Tan, L T; Xu, Z M

    2018-01-07

    Objectives: To provide the experience about the diagnostic process and following management, and to discuss the outcome and predictors in children with laryngeal cleft (LC). Methods: A retrospective case study was conducted at an academic children's hospital. Thirty children were diagnosed as laryngeal cleft between January 2016 and April 2017.Airway evaluations were performed using both flexible and rigid endoscopy, and swallowing evaluations were performed using fiberoptic endoscopic examination of swallowing or modified barium swallow. Results: Of 30 cases, 18 were male and 12 were female, ranging in age from birth to 8 years. Two cases were diagnosed as type 0 LC, and they were offered thickened liquid without medication. Throughout follow-up, they remained asymptomatic and showed no respiratory complications. Nineteen children were diagnosed as type Ⅰ LC. Six of them were significantly improved by anti-reflux therapy and feeding instructions. Four children were concomitant with swallowing dysfunction and/or neuromuscular disorders, and they were given a tracheotomy and routine management. Another 4 children were submitted surgical repair when routine treatment failed, and their symptoms were relieved. Five children were concomitant with larygomalacia, and their symptoms were totally ameliorated by supraglottoplasty. Three children were diagnosed as type Ⅱ LC. Two of them received surgical repair and clinically improved, and the rest one was treated by anti-reflux therapy and still under follow-up. Three children were diagnosed as type Ⅲ LC. One of them was underwent surgical repair and clinically improved. Two children were tracheotomized and treated by anti-reflux therapy. Three cases were diagnosed as type Ⅳ LC at birth and no one survived. Conclusions: Laryngeal cleft is a rare congenital anomaly manifesting with a variety of symptoms, including swallowing disorder, aspirations, dyspnea, stridor and hoarseness. Diagnosis and treatment of laryngeal

  15. Influence of timing of delayed hard palate closure on articulation skills in 3-year-old Danish children with unilateral cleft lip and palate.

    Science.gov (United States)

    Willadsen, Elisabeth; Boers, Maria; Schöps, Antje; Kisling-Møller, Mia; Nielsen, Joan Bogh; Jørgensen, Line Dahl; Andersen, Mikael; Bolund, Stig; Andersen, Helene Søgaard

    2018-01-01

    Differing results regarding articulation skills in young children with cleft palate (CP) have been reported and often interpreted as a consequence of different surgical protocols. To assess the influence of different timing of hard palate closure in a two-stage procedure on articulation skills in 3-year-olds born with unilateral cleft lip and palate (UCLP). Secondary aims were to compare results with peers without CP, and to investigate if there are gender differences in articulation skills. Furthermore, burden of treatment was to be estimated in terms of secondary surgery, hearing and speech therapy. A randomized controlled trial (RCT). Early hard palate closure (EHPC) at 12 months versus late hard palate closure (LHPC) at 36 months in a two-stage procedure was tested in a cohort of 126 Danish-speaking children born with non-syndromic UCLP. All participants had the lip and soft palate closed around 4 months of age. Audio and video recordings of a naming test were available from 113 children (32 girls and 81 boys) and were transcribed phonetically. Recordings were obtained prior to hard palate closure in the LHPC group. The main outcome measures were percentage consonants correct adjusted (PCC-A) and consonant errors from blinded assessments. Results from 36 Danish-speaking children without CP obtained previously by Willadsen in 2012 were used for comparison. Children with EHPC produced significantly more target consonants correctly (83%) than children with LHPC (48%; p < .001). In addition, children with LHPC produced significantly more active cleft speech characteristics than children with EHPC (p < .001). Boys achieved significantly lower PCC-A scores than girls (p = .04) and produced significantly more consonant errors than girls (p = .02). No significant differences were found between groups regarding burden of treatment. The control group performed significantly better than the EHPC and LHPC groups on all compared variables. © 2017 Royal College of Speech

  16. Growth hormone deficiency in cleft lip and palate patients

    Directory of Open Access Journals (Sweden)

    Shahin AbdollahiFakhim

    2015-11-01

    Full Text Available Introduction: Failure to thrive (FTT is relatively common among cleft patients, most commonly attributed to feeding problems during the first months of life. Close association between midline clefts and pituitary gland abnormalities prompted us to determine the frequency of growth hormone deficiency in cleft patients, which is easily treated. Methods: Any cleft patient with FTT was studied and when the patient’s height was under the 3rd percentile of normal, growth hormone was checked after clonidine administration. Growth hormone was checked before and 30, 60 and 90 minutes after clonidine use. Results: Of 670 patients with cleft lip or palate, 31 patients (4% had some kind of growth retardation according to weight, height or head circumstance. Eighteen patients were under the 3rd percentile of normal height. Growth hormone deficiency was detected in 8 patients out of 18 patients and overall frequency of growth hormone deficiency among cleft patients with growth retardation was 25.8% (8 out of 31. Seven patients of 8 were male whereas one was female and half of the patients were syndromic. Conclusion: Cleft patients have many problems with normal feeding and all kind of support should be provided to achieve near-normal feeding and they should be monitored for normal growth. Any patient with growth retardation, especially height decrease, should be assessed for growth hormone deficiency.

  17. First branchial cleft anomalies: otologic manifestations and treatment outcomes.

    Science.gov (United States)

    Shinn, Justin R; Purcell, Patricia L; Horn, David L; Sie, Kathleen C Y; Manning, Scott C

    2015-03-01

    This study describes the presentation of first branchial cleft anomalies and compares outcomes of first branchial cleft with other branchial cleft anomalies with attention to otologic findings. Case series with chart review. Pediatric tertiary care facility. Surgical databases were queried to identify children with branchial cleft anomalies. Descriptive analysis defined sample characteristics. Risk estimates were calculated using Fisher's exact test. Queries identified 126 subjects: 27 (21.4%) had first branchial cleft anomalies, 80 (63.4%) had second, and 19 (15.1%) had third or fourth. Children with first anomalies often presented with otologic complications, including otorrhea (22.2%), otitis media (25.9%), and cholesteatoma (14.8%). Of 80 children with second branchial cleft anomalies, only 3 (3.8%) had otitis. Compared with children with second anomalies, children with first anomalies had a greater risk of requiring primary incision and drainage: 16 (59.3%) vs 2 (2.5%) (relative risk [RR], 3.5; 95% confidence interval [CI], 2.4-5; Pbranchial cleft anomalies often present with otologic complaints. They are at increased risk of persistent disease, particularly if anomalies lie medial to the facial nerve. They may require ear-specific surgery such as tympanoplasty. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2014.

  18. An unusual presentation of presentation of a branchial cleft cyst.

    Science.gov (United States)

    Vemula, Rahul; Greco, Gregory

    2012-05-01

    Branchial cleft cysts are congenital anomalies that arise from the aberrant embryological development of the branchial apparatus. The location of a branchial cleft cyst is determined by which branchial cleft failed to obliterate during embryological development, with the second branchial cleft cyst being the most commonly recognized lesion. Although the most common location for branchial cleft cysts is between the external auditory canal and the level of the clavicle, the literature does describe unusual locations. We present a case a 15-year-old boy who had an enlarging lesion on his back that had been present since birth. A presumptive radiologic diagnosis of lymphangioma circumscriptum was made. Upon excision of the lesion and pathologic examination, it was determined to be a branchial cleft cyst. The patient had an uneventful postoperative course, and no recurrence was noted after a 2-year follow-up. Our clinical report demonstrates a lesion on the posterior thorax that proved to be a branchial cleft cyst and should always be part of the differential diagnosis for soft tissue masses of the thorax.

  19. Cervical vertebral maturation of female children with orofacial clefts.

    Science.gov (United States)

    Sun, Ling; Li, Wei Ran

    2013-09-01

    Objective : To evaluate the skeletal maturation of girls with orofacial clefts using the cervical vertebral maturation method. Design : Case-control study. Setting : The School of Stomatology, Peking University. Patients : A total of 173 girls with cleft lip and/or palate from 8 to 16 years old were compared with 1038 age-matched girls without clefts. Results : In the 8- to 9-year-olds, most of the girls from both groups were in cervical stage 1. In the 14- to 15-year-olds and 15- to 16-year-olds, almost all the girls from both groups were in cervical stages 5 and 6, and most of the 15- to 16-year-old girls were in cervical stage 6. Differences existed in each year for 9- to 14-year-olds, which was confirmed by statistical analysis. After ordinal logistical regression of data from girls 9 to 14 years of age, girls of the same age in the non-cleft lip and/or palate group were associated with 1.559 times the odds of having achieved higher cervical stages than those in the cleft lip and/or palate group. Most girls without cleft lip and/or palate were in cervical stages 3 and 4 in the 11- to 12-year-olds; whereas, it was not so obvious in the girls with cleft lip and/or palate. By the age of 12, girls with cleft lip and/or palate had 2.667 times the risk of delayed cervical stage 3, and the 95% confidence interval for the odds ratio was 1.013 to 7.019. Conclusions : Girls with cleft lip and/or palate are at a higher risk of delayed pubertal growth.

  20. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability.

    Science.gov (United States)

    Houge, G; Rasmussen, I H; Hovland, R

    2012-01-01

    In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the post-synaptic density, and a role in RAS/MAPK-dependent signal transduction.

  1. Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability

    OpenAIRE

    Houge, G.; Rasmussen, I.H.; Hovland, R.

    2011-01-01

    In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the pos...

  2. Modeling CMB lensing cross correlations with CLEFT

    Energy Technology Data Exchange (ETDEWEB)

    Modi, Chirag; White, Martin [Department of Physics, University of California, Berkeley, CA 94720 (United States); Vlah, Zvonimir, E-mail: modichirag@berkeley.edu, E-mail: mwhite@berkeley.edu, E-mail: zvlah@stanford.edu [Stanford Institute for Theoretical Physics and Department of Physics, Stanford University, Stanford, CA 94306 (United States)

    2017-08-01

    A new generation of surveys will soon map large fractions of sky to ever greater depths and their science goals can be enhanced by exploiting cross correlations between them. In this paper we study cross correlations between the lensing of the CMB and biased tracers of large-scale structure at high z . We motivate the need for more sophisticated bias models for modeling increasingly biased tracers at these redshifts and propose the use of perturbation theories, specifically Convolution Lagrangian Effective Field Theory (CLEFT). Since such signals reside at large scales and redshifts, they can be well described by perturbative approaches. We compare our model with the current approach of using scale independent bias coupled with fitting functions for non-linear matter power spectra, showing that the latter will not be sufficient for upcoming surveys. We illustrate our ideas by estimating σ{sub 8} from the auto- and cross-spectra of mock surveys, finding that CLEFT returns accurate and unbiased results at high z . We discuss uncertainties due to the redshift distribution of the tracers, and several avenues for future development.

  3. Branchial cleft cyst: A case report and review of literature.

    Science.gov (United States)

    Chavan, Surekha; Deshmukh, Revati; Karande, Prasad; Ingale, Yeshwant

    2014-01-01

    First branchial cleft anomaly is a rare disease of the head and neck. Because of its rarity, first branchial cleft anomaly is often misdiagnosed and results in inappropriate management. In this article, we present a case of type II first branchial cleft anomaly. A middle-aged woman who had suffered from swelling on lower jaw visited our department with the chief complaint of a swelling. She underwent complete excision of the lesion with preservation of the facial nerve. The patient recovered well and had no recurrence at 1-year of follow up.

  4. Third branchial cleft anomaly presenting as a retropharyngeal abscess.

    Science.gov (United States)

    Huang, R Y; Damrose, E J; Alavi, S; Maceri, D R; Shapiro, N L

    2000-08-31

    Branchial cleft anomalies are congenital developmental defects that typically present as a soft fluctuant mass or fistulous tract along the anterior border of the sternocleidomastoid muscle. However, branchial anomalies can manifest atypically, presenting diagnostic and therapeutic challenges. Error or delay in diagnosis can lead to complications, recurrences, and even life-threatening emergencies. We describe a case of an infected branchial cleft cyst that progressed to a retropharyngeal abscess in a 5-week-old female patient. The clinical, radiographic, and histologic findings of this rare presentation of branchial cleft cyst are discussed.

  5. Duplicated facial nerve trunk with a first branchial cleft cyst.

    Science.gov (United States)

    Hinson, Drew; Poteet, Perry; Bower, Charles

    2014-03-01

    First branchial cleft anomalies are rare and their various anatomical relationships to the facial nerve have been described. We encountered a 15-year-old female with a type II first branchial cleft cyst presenting as a right neck mass that we found during surgical excision to transverse two main facial nerve trunks. To our knowledge, this is the first reported case of a first branchial cleft anomaly in conjunction with a duplicated facial nerve trunk. © 2013 The American Laryngological, Rhinological and Otological Society, Inc.

  6. Cleft Palate Fistula Closure Utilizing Acellular Dermal Matrix.

    Science.gov (United States)

    Emodi, Omri; Ginini, Jiriys George; van Aalst, John A; Shilo, Dekel; Naddaf, Raja; Aizenbud, Dror; Rachmiel, Adi

    2018-03-01

    Fistulas represent failure of cleft palate repair. Secondary and tertiary fistula repair is challenging, with high recurrence rates. In the present retrospective study, we review the efficacy of using acellular dermal matrix as an interposition layer for cleft palate fistula closure in 20 consecutive patients between 2013 and 2016. Complete fistula closure was obtained in 16 patients; 1 patient had asymptomatic recurrent fistula; 2 patients had partial closure with reduction of fistula size and minimal nasal regurgitation; 1 patient developed a recurrent fistula without changes in symptoms (success rate of 85%). We conclude that utilizing acellular dermal matrix for cleft palate fistula repair is safe and simple with a high success rate.

  7. Strategy for Nasal Reconstruction in Atypical Facial Clefts

    Directory of Open Access Journals (Sweden)

    Fouad M. Ghareeb, FRCS, MD

    2017-11-01

    Full Text Available Summary:. It is difficult to put forward a strategy for the treatment of nasal clefts due to the rarity and diversity of anatomical aberrations of these cases contrary to the common nasal affection in cleft lip and palate patients, which differ in severity rather than differing in the morbid anatomy. This simple strategy for correction of these nasal clefts will hopefully help surgeons to achieve better results. In the mean time I intended to describe the morbid anatomy of these cases by choosing examples of each morbid anatomy.

  8. An anatomical subunit-based outcome assessment scale for bilateral cleft lip and palate.

    Science.gov (United States)

    Bonanthaya, K; Shetty, P N; Fudalej, P S; Rao, D D; Bitra, S; Pabari, M; Rachwalski, M

    2017-08-01

    As there is currently no internationally accepted outcome measurement tool available for complete bilateral cleft lip and palate (CBCLP), the goal of this prospective study was to develop a numerical evaluation scale that allows reliable scoring of this cleft deformity. Our cohort comprised 121 Indian subjects with CBCLP who underwent surgical repair (mean age at time of surgery 6.53 months) using a modified Millard technique. A panel of three professionals evaluated each subject's outcome of bilateral cleft lip repair 6 months postoperatively on two-dimensional (2D) full-face photographs in the frontal view and worm's eye view. A simple two-point rating system was applied to separately analyse a total of 12 components of lip, nose, and scar. The results and mean scores for the analysed anatomical areas were 2.2±1.01 (max=3) for nose, 5.4±1.54 (max=8) for lip, and 1.9±1.3 (max=3) for scar, with a total score 7.7±2.21 (max=12) indicating a good surgical outcome. The inter-examiner ICC for nose, lip, scar, and total score was calculated at 0.836, 0.889, 0.723, and 0.927 respectively and indicated a strong level of repeatability and reliability that was highly significant (P<0.001). In conclusion, we were able to develop and test a scoring system for measuring outcomes in CBCLP that warrants simplicity of use, reliability and reproducibility. Copyright © 2017 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  9. Maternal Risk Factors Associated with the Development of Cleft Lip and Cleft Palate in Mexico: A Case-Control Study.

    Science.gov (United States)

    Angulo-Castro, Emmanuel; Acosta-Alfaro, Luis F; Guadron-Llanos, Alma M; Canizalez-Román, Adrian; Gonzalez-Ibarra, Fernando; Osuna-Ramírez, Ignacio; Murillo-Llanes, Joel

    2017-07-01

    Cleft lip and palate, the most common developmental deformity, is seen worldwide and the etiology involves a combination of genetic and environmental factors. The purpose of this study was to determine the maternal risk factors associated with the development of cleft lip and cleft palate. We conducted a case control study at the Women's Hospital in Culiacan, Mexico. Medical records were analyzed, including patients who delivered babies with and without cleft lip and cleft palate from January 2010 to December 2015. Multiple variables were analyzed, including gestational age, weight at birth, the use of folic acid and multivitamins during pregnancy, smoking, alcohol abuse, the use of recreational drugs, history of sexually transmitted infections, marital status, socioeconomic status, education, and nutritional status. We found that the maternal risk factors with the strongest association for the development of cleft lip and cleft palate were the following: patients who were not taking folic acid during pregnancy [OR 3.27, 95% CI 1.32-8.09], P=0.00; patients who were not taking vitamin supplementation during pregnancy [OR 2.6, 95% CI 1.19-7.27], P=0.02; smoking during pregnancy [OR 2.05, 95% CI 1.23-3.41], P=0.01; and alcohol abuse during pregnancy [OR 1.90, 95% CI 1.17-3.08], P=0.03. The main risk factors associated with the development of cleft lip and cleft palate in a Mexican population at the Women's hospital in Culiacan, Sinaloa, Mexico were smoking, alcohol abuse, and patients not taking folic acid and multivitamins during pregnancy.

  10. Assessing Technical Performance and Determining the Learning Curve in Cleft Palate Surgery Using a High-Fidelity Cleft Palate Simulator.

    Science.gov (United States)

    Podolsky, Dale J; Fisher, David M; Wong Riff, Karen W; Szasz, Peter; Looi, Thomas; Drake, James M; Forrest, Christopher R

    2018-06-01

    This study assessed technical performance in cleft palate repair using a newly developed assessment tool and high-fidelity cleft palate simulator through a longitudinal simulation training exercise. Three residents performed five and one resident performed nine consecutive endoscopically recorded cleft palate repairs using a cleft palate simulator. Two fellows in pediatric plastic surgery and two expert cleft surgeons also performed recorded simulated repairs. The Cleft Palate Objective Structured Assessment of Technical Skill (CLOSATS) and end-product scales were developed to assess performance. Two blinded cleft surgeons assessed the recordings and the final repairs using the CLOSATS, end-product scale, and a previously developed global rating scale. The average procedure-specific (CLOSATS), global rating, and end-product scores increased logarithmically after each successive simulation session for the residents. Reliability of the CLOSATS (average item intraclass correlation coefficient (ICC), 0.85 ± 0.093) and global ratings (average item ICC, 0.91 ± 0.02) among the raters was high. Reliability of the end-product assessments was lower (average item ICC, 0.66 ± 0.15). Standard setting linear regression using an overall cutoff score of 7 of 10 corresponded to a pass score for the CLOSATS and the global score of 44 (maximum, 60) and 23 (maximum, 30), respectively. Using logarithmic best-fit curves, 6.3 simulation sessions are required to reach the minimum standard. A high-fidelity cleft palate simulator has been developed that improves technical performance in cleft palate repair. The simulator and technical assessment scores can be used to determine performance before operating on patients.

  11. Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia.

    Directory of Open Access Journals (Sweden)

    Astanand Jugessur

    Full Text Available Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark: 235 case-parent triads.We used two complementary statistical methods, TRIMM and HAPLIN, to look for associations across these two national samples. TRIMM tests for association in each gene by using multi-SNP genotypes from case-parent triads directly without the need to infer haplotypes. HAPLIN on the other hand estimates the full haplotype distribution over a set of SNPs and estimates relative risks associated with each haplotype. For isolated cleft lip with or without cleft palate (I-CL/P, TRIMM and HAPLIN both identified significant associations with IRF6 and ADH1C in both populations, but only HAPLIN found an association with FGF12. For isolated cleft palate (I-CP, TRIMM found associations with ALX3, MKX, and PDGFC in both populations, but only the association with PDGFC was identified by HAPLIN. In addition, HAPLIN identified an association with ETV5 that was not detected by TRIMM.Strong associations with seven genes were replicated in the Scandinavian samples and our approach effectively replicated the strongest previously known association in clefting--with IRF6. Based on two national cleft cohorts of similar ancestry, two robust statistical methods and a large panel of SNPs in the most promising cleft candidate genes to date, this study identified a previously unknown association with clefting for ADH1C and provides additional candidates and analytic approaches to advance the field.

  12. 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).

    Science.gov (United States)

    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…

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

    Energy Technology Data Exchange (ETDEWEB)

    Amos, C.; Hecht, J.T. [Univ. of Texas Medical School, Houston, TX (United States); Gasser, D. [Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States)

    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. Swallowing function after laryngeal cleft repair: more than just fixing the cleft.

    Science.gov (United States)

    Osborn, Alexander J; de Alarcon, Alessandro; Tabangin, Meredith E; Miller, Claire K; Cotton, Robin T; Rutter, Michael J

    2014-08-01

    To evaluate and describe the swallowing function in children after laryngeal cleft repair. Ten-year (2002-2012) retrospective chart review. Academic tertiary care pediatric otolaryngology practice. Records of 60 children who had surgical repair of laryngeal cleft (ages 2 weeks-14 years) and postoperative functional endoscopic evaluation of swallowing or videofluoroscopic swallow studies were examined retrospectively. Twenty-nine children had one postoperative swallow evaluation, 19 children had two, 4 children had three, 5 children had four, and 3 children had five. Median time to the first evaluation was 10.8 weeks (interquartile range [IQR]: 36.5, 231). On the final swallow evaluation, 34 (57%) children demonstrated normal swallowing parameters, 12 (20%) children showed penetration, and 14 (23%) children showed aspiration. Forty-three (72%) children were able to take everything by mouth normally or with minor behavioral modifications, 11 (18%) children required thickened fluids, and six (10%) children were kept nil per os (NPO). Mean improvement on the penetration-aspiration (pen-asp) scale was 2.13. On multivariable analysis, neurodevelopmental issues and gastronomy tube use were associated with the need for NPO status. Despite a high rate of surgical success, a substantial minority of children have persistent swallowing dysfunction after laryngeal cleft repair. Swallowing dysfunction after repair is multifactorial and arises from concomitant neurologic, anatomic, or other comorbidities that contribute to oropharyngeal and pharyngeal dysphagia. Based on our results, we recommend a testing schedule for postoperative swallowing evaluations after cleft repair. © 2014 The American Laryngological, Rhinological and Otological Society, Inc.

  15. Long-Term Follow-Up Study of Young Adults Treated for Unilateral Complete Cleft Lip, Alveolus, and Palate by a Treatment Protocol Including Two-Stage Palatoplasty: Speech Outcomes

    Science.gov (United States)

    Bittermann, Dirk; Janssen, Laura; Bittermann, Gerhard Koendert Pieter; Boonacker, Chantal; Haverkamp, Sarah; de Wilde, Hester; Van Der Heul, Marise; Specken, Tom FJMC; Koole, Ron; Kon, Moshe; Breugem, Corstiaan Cornelis; Mink van der Molen, Aebele Barber

    2017-01-01

    Background No consensus exists on the optimal treatment protocol for orofacial clefts or the optimal timing of cleft palate closure. This study investigated factors influencing speech outcomes after two-stage palate repair in adults with a non-syndromal complete unilateral cleft lip and palate (UCLP). Methods This was a retrospective analysis of adult patients with a UCLP who underwent two-stage palate closure and were treated at our tertiary cleft centre. Patients ≥17 years of age were invited for a final speech assessment. Their medical history was obtained from their medical files, and speech outcomes were assessed by a speech pathologist during the follow-up consultation. Results Forty-eight patients were included in the analysis, with a mean age of 21 years (standard deviation, 3.4 years). Their mean age at the time of hard and soft palate closure was 3 years and 8.0 months, respectively. In 40% of the patients, a pharyngoplasty was performed. On a 5-point intelligibility scale, 84.4% received a score of 1 or 2; meaning that their speech was intelligible. We observed a significant correlation between intelligibility scores and the incidence of articulation errors (P<0.001). In total, 36% showed mild to moderate hypernasality during the speech assessment, and 11%–17% of the patients exhibited increased nasalance scores, assessed through nasometry. Conclusions The present study describes long-term speech outcomes after two-stage palatoplasty with hard palate closure at a mean age of 3 years old. We observed moderate long-term intelligibility scores, a relatively high incidence of persistent hypernasality, and a high pharyngoplasty incidence. PMID:28573094

  16. Long-Term Follow-Up Study of Young Adults Treated for Unilateral Complete Cleft Lip, Alveolus, and Palate by a Treatment Protocol Including Two-Stage Palatoplasty: Speech Outcomes

    Directory of Open Access Journals (Sweden)

    Isabelle Francisca Petronella Maria Kappen

    2017-05-01

    Full Text Available BackgroundNo consensus exists on the optimal treatment protocol for orofacial clefts or the optimal timing of cleft palate closure. This study investigated factors influencing speech outcomes after two-stage palate repair in adults with a non-syndromal complete unilateral cleft lip and palate (UCLP.MethodsThis was a retrospective analysis of adult patients with a UCLP who underwent two-stage palate closure and were treated at our tertiary cleft centre. Patients ≥17 years of age were invited for a final speech assessment. Their medical history was obtained from their medical files, and speech outcomes were assessed by a speech pathologist during the follow-up consultation.ResultsForty-eight patients were included in the analysis, with a mean age of 21 years (standard deviation, 3.4 years. Their mean age at the time of hard and soft palate closure was 3 years and 8.0 months, respectively. In 40% of the patients, a pharyngoplasty was performed. On a 5-point intelligibility scale, 84.4% received a score of 1 or 2; meaning that their speech was intelligible. We observed a significant correlation between intelligibility scores and the incidence of articulation errors (P<0.001. In total, 36% showed mild to moderate hypernasality during the speech assessment, and 11%–17% of the patients exhibited increased nasalance scores, assessed through nasometry.ConclusionsThe present study describes long-term speech outcomes after two-stage palatoplasty with hard palate closure at a mean age of 3 years old. We observed moderate long-term intelligibility scores, a relatively high incidence of persistent hypernasality, and a high pharyngoplasty incidence.

  17. Long-Term Follow-Up Study of Young Adults Treated for Unilateral Complete Cleft Lip, Alveolus, and Palate by a Treatment Protocol Including Two-Stage Palatoplasty: Speech Outcomes.

    Science.gov (United States)

    Kappen, Isabelle Francisca Petronella Maria; Bittermann, Dirk; Janssen, Laura; Bittermann, Gerhard Koendert Pieter; Boonacker, Chantal; Haverkamp, Sarah; de Wilde, Hester; Van Der Heul, Marise; Specken, Tom Fjmc; Koole, Ron; Kon, Moshe; Breugem, Corstiaan Cornelis; Mink van der Molen, Aebele Barber

    2017-05-01

    No consensus exists on the optimal treatment protocol for orofacial clefts or the optimal timing of cleft palate closure. This study investigated factors influencing speech outcomes after two-stage palate repair in adults with a non-syndromal complete unilateral cleft lip and palate (UCLP). This was a retrospective analysis of adult patients with a UCLP who underwent two-stage palate closure and were treated at our tertiary cleft centre. Patients ≥17 years of age were invited for a final speech assessment. Their medical history was obtained from their medical files, and speech outcomes were assessed by a speech pathologist during the follow-up consultation. Forty-eight patients were included in the analysis, with a mean age of 21 years (standard deviation, 3.4 years). Their mean age at the time of hard and soft palate closure was 3 years and 8.0 months, respectively. In 40% of the patients, a pharyngoplasty was performed. On a 5-point intelligibility scale, 84.4% received a score of 1 or 2; meaning that their speech was intelligible. We observed a significant correlation between intelligibility scores and the incidence of articulation errors (Pspeech assessment, and 11%-17% of the patients exhibited increased nasalance scores, assessed through nasometry. The present study describes long-term speech outcomes after two-stage palatoplasty with hard palate closure at a mean age of 3 years old. We observed moderate long-term intelligibility scores, a relatively high incidence of persistent hypernasality, and a high pharyngoplasty incidence.

  18. Maxillary distraction osteogenesis for treatment of cleft lip and palate in a patient with X-linked agammaglobulinemia.

    Science.gov (United States)

    Sato, Yutaka; Mishimagi, Takashi; Katsuki, Yuko; Harada, Kiyoshi

    2014-07-01

    X-linked agammaglobulinemia (XLA) is a congenital immune deficiency disorder caused by abnormal antibody production. It is a rare disease with an estimated frequency of 1 in 379,000 that has X-linked recessive heredity and develops only in males. The clinical problems include bacterial infection such as otitis media, sinusitis, and bronchitis. In recent years it has become possible to diagnose XLA in the early stage and intravenous immunoglobulin replacement therapy has permitted survival to adulthood. However, there have been no reports of oral surgery in patients with XLA. Here, we describe a case in which immunoglobulin replacement therapy given pre- and postoperatively was used to control infection in oral surgery and maxillary distraction osteogenesis performed for improving occlusion and appearance of a cleft lip and palate in a patient with XLA. Copyright © 2014 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  19. Involvement of apoptotic cell death and cell cycle perturbation in retinoic acid-induced cleft palate in mice

    International Nuclear Information System (INIS)

    Okano, Junko; Suzuki, Shigehiko; Shiota, Kohei

    2007-01-01

    Retinoic acid (RA), a metabolite of vitamin A, plays a key role in a variety of biological processes and is essential for normal embryonic development. On the other hand, exogenous RA could cause cleft palate in offspring when it is given to pregnant animals at either the early or late phases of palatogenesis, but the pathogenetic mechanism of cleft palate caused by excess RA remains not fully elucidated. The aim of the present study was to investigate the effects of excess of RA on early palatogenesis in mouse fetuses and analyze the teratogenic mechanism, especially at the stage prior to palatal shelf elevation. We gave all-trans RA (100 mg/kg) orally to E11.5 ICR pregnant mice and observed the changes occurring in the palatal shelves of their fetuses. It was found that apoptotic cell death increased not only in the epithelium of the palatal shelves but also in the tongue primordium, which might affect tongue withdrawal movement during palatogenesis and impair the horizontal elevation of palatal shelves. In addition, RA was found to prevent the G 1 /S progression of palatal mesenchymal cells through upregulation of p21 Cip1 , leading to Rb hypophospholylation. Thus, RA appears to cause G 1 arrest in palatal mesenchymal cells in a similar manner as in various cancer and embryonic cells. It is likely that apoptotic cell death and cell cycle disruption are involved in cleft palate formation induced by RA

  20. Parental age in relation to severity of clefting

    DEFF Research Database (Denmark)

    Hermann, Nuno Vibe; Darvann, Tron Andre; Kreiborg, Sven

    2016-01-01

    Lip and/or Palate (IC). Wilcoxon Rank-Sum test (5% significance level) was applied in order to test for group differences. Standard logistic regression was used in order to estimate the risk of developing CC relative to IC. Results. In the group with CC mean paternal age was 29.5+/-4.5 (1SD) years...... parental ages in the group with IC did not differ from normative population values during the same time period. Logistic regression showed for paternal age OR=1.1[1.04,1.16](Wald confidence limits); for maternal age 1.08[1.01,1.15]. Conclusions. The hypothesis was rejected. Parental age was significantly...... of cleft individuals, as well as to compare parental age in the cleft population with normative values of parental age. It was hypothesized that there was no difference in parental age between the cleft groups with incomplete and complete clefts, respectively. Methods/Descriptions. The consecutive non...

  1. Computational Embryology and Predictive Toxicology of Cleft Palate

    Science.gov (United States)

    Capacity to model and simulate key events in developmental toxicity using computational systems biology and biological knowledge steps closer to hazard identification across the vast landscape of untested environmental chemicals. In this context, we chose cleft palate as a model ...

  2. Contemporary Approaches in the Repair of Alveolar Clefts

    Directory of Open Access Journals (Sweden)

    Ufuk Tatli

    2014-08-01

    Full Text Available Cleft lip and palate is one of the most common craniofacial anomalies. The repair of the alveolar clefts is an important part of the treatment for patients with cleft lip and palate. The treatment concepts of alveolar bone grafting are still controversial. The corresponding controversial issues are; timing of alveolar bone grafting, graft materials, and timing of the orthodontic expansion. In the present article, aforementioned controversial issues and contemporary treatment modalities of the maxillary alveolar clefts were reviewed in the light of current literature. In conclusion, the most suitable time for alveolar bone grafting is mixed dentition period. Grafting procedure may be performed in the early or late phases of this period depending on some clinical features. Adjunct orthodontic expansion procedures should be performed before and/or after grafting depending on the patient's current features. [Archives Medical Review Journal 2014; 23(4.000: 563-574

  3. Management of Cleft Lip and Palate in Nigeria: A Survey

    African Journals Online (AJOL)

    2017-03-20

    Mar 20, 2017 ... Background: Clefts of the lip and/or palate are the most common congenital craniofacial ... in the number of surgeons, but the training, scope, and standard of care remain ... specialist fellowship qualifications, 6 others (8.6%).

  4. Maxillary distraction complications in cleft patients.

    Science.gov (United States)

    Jeblaoui, Y; Morand, B; Brix, M; Lebeau, J; Bettega, G

    2010-06-01

    Cleft lip and palate (CLP) patients often present with a class III malocclusion in connection with a three dimensional maxillary hypoplasia. Twenty-five to 60% of these patients need maxillary advancement. Two solutions are possible: orthognathic surgery and maxillary distraction. The purpose of this study was to evaluate the complications of maxillary distraction in CLP patients. Data was collected from the records of patients treated in our surgery unit between 2000 and 2007. Among the eight patients (four male and four female), five presented with a bilateral CLP, two with a unilateral CLP, and one with a unilateral cleft lip associated to a soft palate cleft. The average age at surgery was 17 years. All underwent a Le Fort I osteotomy with a pterygomaxillary disjunction. An external distractor was used for the first two patients and an internal distractor for the six following patients. After a seven-day latency, activation was implemented at a rate of 1mm twice a day. The average period of consolidation was four months. Maxillary advancement ranged between 7 and 19mm, with an average of 12.6mm. The average follow-up was four years. Complications were noted in seven patients: one intra-operative hemorrhage, one avulsion of a tooth anchored at the pterygoid process during osteotomy, three cases of device dysfunction, two cases of significant pain during activation, one loosening of the orthodontic arch in an external system, two cases of labial ulceration, and one maxillary sinusitis due to migration of a wisdom tooth. Complications of maxillary distraction in CLP patients were very frequent. Most were related to the device and did not interfere with the final result. This must be taken into account when indicating distraction and choosing the device. Two types of complications can occur during distraction: those related to the osteotomy and those related to the device. The complications related to the osteotomy are linked to the cicatricial ground of previous

  5. [Maxillary distraction complications in cleft patients].

    Science.gov (United States)

    Jeblaoui, Y; Morand, B; Brix, M; Lebeau, J; Bettega, G

    2008-09-01

    Cleft lip and palate (CLP) patients often present with a class III malocclusion in connection with a three dimensional maxillary hypoplasia. Twenty-five to 60% of these patients require a maxillary advancement. Two solutions are possible: orthognathic surgery and maxillary distraction. The purpose of this study was to evaluate the complications of the maxillary distraction in CLP patients. Data was collected from the records of patients treated at our Surgery Unit between 2000 and 2007. Among the eight patients (four male and four female), five presented a bilateral CLP, two a unilateral CLP and one a unilateral cleft lip associated to a soft palate cleft. The average age at surgery was 17 years old. All had a Le Fort I osteotomy with a pterygomaxillary disjunction. The first two patients had external distractors and the six following internal ones. After a seven-day latency, activation was led to the rate of 1mm per day twice. The period of consolidation was four months on average. The maxillary advancement varied between 7 and 19 mm with an average of 12.6mm. The average follow-up was four years. We encountered difficulties and/or complications in seven patients: one intraoperatively haemorrhage, one avulsion of a tooth fixed at the pterygoid process during the osteotomy, three device failures, two cases of significant pains during activation, one dissociation of the dental anchorage of an external system, two labial ulcerations and one maxillary sinusitis by migration of the 18. Difficulties of maxillary distraction in CLP patients are very frequent. The majority is related to the distractors and did not interfere with the final result. But this frequency must be taken into account in the indication and in the choice of the material. Two types of complications can occur during distraction: those related to the osteotomy and those related to the material. The complications related to the osteotomy are in connection with the cicatricial ground of the CLP. They are

  6. Phonetic description of babbling in Danish toddlers born with and without unilateral cleft lip and palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Albrechstn, Helle

    2006-01-01

    Objective: To investigate prelinguistic vocalization sequences of 1-year-old children with and without cleft lip and palate. Design: Prospective study. Participants: Thirty-eight children born with unilateral cleft lip and palate and 36 control children born without clefts. The cleft children had...... of occurrence of nasal contoids and a smaller frequency of occurrence of alveolar contoids in the cleft group. Canonical babbling was achieved by most children in both groups, and no significant difference was found between the groups. Conclusions: Early closure of the soft palate seems to have a positive...... influence on the prelinguistic development of children with cleft palate....

  7. Congenital Palatal Fistula Associated with Submucous Cleft Palate

    Science.gov (United States)

    Eshete, Mekonen; Camison, Liliana; Abate, Fikre; Hailu, Taye; Demissie, Yohannes; Mohammed, Ibrahim; Butali, Azeez; Losken, H. Wolfgang

    2016-01-01

    Background: Although cleft lip and cleft palate are among the most common congenital malformations, the presence of an isolated congenital palatal fistula along with a submucous cleft is very rare. This appears as an oval-shaped, full-thickness fenestration in the palatal midline that does not fully extend anteriorly or posteriorly, accompanied by the findings of a submucous cleft. Because of the uncommon nature of this entity, there is controversy about its etiology, diagnosis, and management. Methods: Two cases of children with congenital palatal fistulae and a submucous cleft palate are presented who were treated in different settings by different surgeons. Cases are discussed along with a thorough review of the available literature. Results: Patient 1 presented at 4 years of age with “a hole in the palate” since birth and abnormal speech. His palatal fistula and submucous cleft were repaired with a modified von Langenbeck technique in Ethiopia. At a 2-year follow-up, the palate remained closed, but hypernasal speech persisted. Patient 2 was a 1-year-old presenting with failure to thrive and nasal regurgitation, who underwent a Furlow palatoplasty in the United States with good immediate results. She was unfortunately lost to follow-up. Conclusions: A congenital fenestration of the palate is rare. Reports reveal suboptimal speech at follow-up, despite various types of repair, especially when combined with a submucous cleft. Available literature suggests that repair should not focus on fistula closure only but instead on providing adequate palate length to provide good velopharyngeal function, as in any cleft palate repair. PMID:27014542

  8. [First branchial cleft cyst in nasopharynx: a case report].

    Science.gov (United States)

    2017-09-20

    We report a rare case of first branchial cleft cyst arising from the nasopharynx. A 47-year old woman with a six-month-history of right ear stuffy and hearing loss was studied. Electronic nasopharyngeal examination revealed a mass in the nasopharynx of this case. The tumor was removed endoscopically with endonasal approach. Postoperative pathological examination indicated that it was branchial cleft cyst. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

  9. The trochlear cleft: the ''black line'' of the trochlear trough

    International Nuclear Information System (INIS)

    Wissman, Robert D.; Nepute, Joshua; Fischer, Nathaniel von; Radhakrishnan, Rupa; Hendry, Daniel; Ingalls, Jerrell; Kenter, Keith

    2012-01-01

    The ''cartilage black line sign'' is a recently described T2 dark cartilage lesion that we have identified appearing as a cleft in the trochlear trough. The purpose of our study was to define the MR imaging characteristics of a trochlear cleft, determine its incidence, and correlate the MR findings with arthroscopy. A total of 1,300 consecutive MR examinations of the knee were retrospectively reviewed by consensus of two fellowship-trained musculoskeletal radiologists. The MR imaging characteristics and location of a trochlear cleft were determined. Imaging results were compared to arthroscopy when available. Patient age and gender were compared to 25 randomly selected control patients without trochlear clefts. A total of 25 (1.9%) individuals (11 females and 14 males; age range 19-45 years; mean age 28 years) were diagnosed with a trochlear cleft. The control group consisted of 11 females and 14 males; age range 19-83 years; mean age 46 years. Mean cleft length was 7 mm (range 6-12 mm); cleft location was consistently in the lower trochlear trough. No full-thickness cartilage defects were identified in the eight individuals in whom arthroscopic correlation was available. A grade 2 cartilage lesion was identified in a single individual; another progressed from grade 0 to a full-thickness trochlear lesion over an 8-month interval. Eight individuals were athletes. No significant difference in gender was noted between the two groups, however, the study group was significantly younger p < 0.0001. A trochlear cleft is a rare finding in young active individuals. It most likely indicates an incomplete cartilage fissure which may rarely progress to a full-thickness defect. (orig.)

  10. A Relationship between nasolabial appearance and self-esteem in adolescent with repaired cleft lip and cleft palate at Khon Kaen University Cleft Center.

    Science.gov (United States)

    Patjanasoontornm, Niramol; Wongniyom, Kusalapom; Pradubwong, Suteera; Piyavhakul, Navanant; Chowchuen, Bowornsilp

    2014-10-01

    To examine levels of self-esteem of adolescents with repaired cleft lip and cleft palate at Khon Kaen University Cleft Center and its correlation with nasolabial appearance. Across-sectional survey of 93 adolescents with repaired cleft lip and palate. A total nasolabial appearance score was 2.8 +/- 0.36 (fair to good). The mean of the total self-esteem score for all respondents was 20.11 +/- 3.27 (maximum 30). There was no-significant correlation between nasolabial appearance and self esteem (Pearson product-moment correlation coefficiency (r) = 0.18, p = 0.08. The self-esteem scores of good, fair and poor appearance were 20.5 +/- 0.98, 19.8 +/- 0.32, 19 +/- 2.09 respectively. The nasolabial appearance of repaired cleft lip and palate not be the only factor but other psychosocialfactors also may play a role in their self-esteem. The analysis of this study found no relationship between self-esteem and appearance.

  11. Dentofacial self-perception and social perception of adults with unilateral cleft lip and palate.

    Science.gov (United States)

    Meyer-Marcotty, Philipp; Stellzig-Eisenhauer, Angelika

    2009-05-01

    The aim of this study was to investigate the influence of facial asymmetry on how an adult population with unilateral cleft lip and palate (CLP) perceived themselves and were perceived by others. 3D facial data of 30 adult patients with cleft lip and palate (CLP) was scanned and standardized extra- and intraoral photographs were taken. The measured degree of 3D asymmetry was computed for the entire face, midface and lower face. Subjective estimates regarding facial symmetry, attractiveness as well as satisfaction and a desire or indication for further treatment were surveyed by means of a questionnaire filled out by patients and an assessment group (10 orthodontists, 10 oral and maxillofacial (OM) surgeons, 15 laypersons). The study's results show that the largest degree of asymmetry was found in the midface of CLP patients. The vast majority of the patients were dissatisfied with their facial appearance, and patients, experts and laypersons expressed great interest in and a need of correction. We observed tangible incongruence between how the patients perceived their own faces and how others perceived them. Asymmetry, especially in the midface, appears to detract from how facial appearance is self-perceived and perceived by others, which explains the primary desire for or need of nose correction. The self-perception of patients affected by CLP does not correlate with objective results or how others perceive them. Clinicians should be open to adult patients' requests for correction, but the patient's self-perception should also be critically explored.

  12. Use of hyperdry amniotic membrane in operations for cleft palate: a study in rats.

    Science.gov (United States)

    Tsuno, Hiroaki; Noguchi, Makoto; Okabe, Motonori; Tomihara, Kei; Yoshida, Toshiko; Nikaido, Toshio

    2015-04-01

    The growth of maxillary bone and the development of dentition are often impaired in patients who have had pushback operations for repair of a cleft palate. There has been considerable discussion about the most suitable technique or material used in such repairs to resolve the problem. Hyperdry amniotic membrane, a new preservable material derived from human amnion, has recently been introduced in several procedures. We have evaluated its use during pushback surgery in animal studies to try to correct the inhibition of growth and development of the maxilla. Mucosal defects were created in 3-week-old rats, and then covered with hyperdry amniotic membrane or not. Healing was assessed by histological and morphological examination at 1 week and 7 weeks postoperatively. In the group treated with hyperdry amniotic membrane, submucosal tissue was reconstructed successfully during the early postoperative period. Lateral palatal growth was not inhibited as much, and medial inclination of the teeth was less, after a period of growth using this material. The results suggest that hyperdry amniotic membrane is a suitable new dressing material for use in the treatment of cleft palate. Copyright © 2015 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  13. A case report of brachial cleft cyst in the neck

    International Nuclear Information System (INIS)

    Lee, Young Mi; Choi, Soon Chul; Park, Tae Won; You, Dong Soo

    1993-01-01

    Branchial cleft cyst is the most common lateral neck cyst ; the vast majority are of the second branchial cleft origin. This presumably reflects the greater depth and longer persistence of the second cleft, compared with the first, third, and fourth clefts. We experienced a 49-year-old male whose chief complaint was a abnormal mass of the cleft parotid gland area and neck. As a result of careful analysis of clinical, radiological, and histopathological findings. We diagnosed it as a second branchial cleft cyst in the neck and obtained results as follows: 1. In clinical examination, there was a 10 X 15 cm sized, fluctuant painful mass in the left neck and parotid area. 2. In radiographic examination, a low echogenic mass with internal cystic change in the inferior parotid gland area was noted sonographically. Computed tomograph showed a 3 X 4 cm sized, well-defined cystic mass with heterogenous solid component in the anterior border of sternocleidomastoid muscle. MRI revealed 5 X 6 cm sized, well-marginated multiseparated mass in the same area. 3. In histopathological examination, lining of cyst was stratified squamous epithelium with typical lymph node pattern and inflammatory cell infiltration.

  14. A case report of brachial cleft cyst in the neck

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Young Mi; Choi, Soon Chul; Park, Tae Won; You, Dong Soo [Dept. of Oral and Maxillofacial Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

    1993-08-15

    Branchial cleft cyst is the most common lateral neck cyst ; the vast majority are of the second branchial cleft origin. This presumably reflects the greater depth and longer persistence of the second cleft, compared with the first, third, and fourth clefts. We experienced a 49-year-old male whose chief complaint was a abnormal mass of the cleft parotid gland area and neck. As a result of careful analysis of clinical, radiological, and histopathological findings. We diagnosed it as a second branchial cleft cyst in the neck and obtained results as follows: 1. In clinical examination, there was a 10 X 15 cm sized, fluctuant painful mass in the left neck and parotid area. 2. In radiographic examination, a low echogenic mass with internal cystic change in the inferior parotid gland area was noted sonographically. Computed tomograph showed a 3 X 4 cm sized, well-defined cystic mass with heterogenous solid component in the anterior border of sternocleidomastoid muscle. MRI revealed 5 X 6 cm sized, well-marginated multiseparated mass in the same area. 3. In histopathological examination, lining of cyst was stratified squamous epithelium with typical lymph node pattern and inflammatory cell infiltration.

  15. Augmentation Rhinoplasty in Cleft Lip Nasal Deformity: Preliminary Patients’ Perspective

    Directory of Open Access Journals (Sweden)

    William H. C. Tiong

    2014-01-01

    Full Text Available The correction of cleft lip nasal deformity is challenging and there have been numerous methods described in the literature with little demonstrated technical superiority of one over another. The common clinical issues associated with cleft lip nasal deformity are its lack of symmetry, alar collapse on the affected side, obtuse nasal labial angle, short nasal length, loss of tip definition, and altered columella show among others. We carried out augmentation of cleft lip rhinoplasties with rib graft in 16 patients over the one-year study period. Each of these patients was reviewed and given questionnaire before and after surgery to evaluate their response on the outcome to the approach. Preoperatively, nasal asymmetry is the main complaint (14/16, 87.5% among our series of patients. Postoperatively, 12 (75% patients out of the 16 reported significant improvement in their nasal symmetry with the other four marginal. All patients reported excellent nasal projection postoperatively with good nasal tip definition. Our series of patients reported overall good satisfaction outcome and will recommend this procedure to other patients with cleft lip nasal deformity. In conclusion, augmentation of cleft lip rhinoplasty can be employed to achieve perceivable and satisfactory outcome in patients with cleft lip nasal deformity.

  16. Early lexical characteristics of toddlers with cleft lip and palate.

    Science.gov (United States)

    Hardin-Jones, Mary; Chapman, Kathy L

    2014-11-01

    Objective : To examine development of early expressive lexicons in toddlers with cleft palate to determine whether they differ from those of noncleft toddlers in terms of size and lexical selectivity. Design : Retrospective. Patients : A total of 37 toddlers with cleft palate and 22 noncleft toddlers. Main Outcome Measures : The groups were compared for size of expressive lexicon reported on the MacArthur Communicative Development Inventory and the percentage of words beginning with obstruents and sonorants produced in a language sample. Differences between groups in the percentage of word initial consonants correct on the language sample were also examined. Results : Although expressive vocabulary was comparable at 13 months of age for both groups, size of the lexicon for the cleft group was significantly smaller than that for the noncleft group at 21 and 27 months of age. Toddlers with cleft palate produced significantly more words beginning with sonorants and fewer words beginning with obstruents in their spontaneous speech samples. They were also less accurate when producing word initial obstruents compared with the noncleft group. Conclusions : Toddlers with cleft palate demonstrate a slower rate of lexical development compared with their noncleft peers. The preference that toddlers with cleft palate demonstrate for words beginning with sonorants could suggest they are selecting words that begin with consonants that are easier for them to produce. An alternative explanation might be that because these children are less accurate in the production of obstruent consonants, listeners may not always identify obstruents when they occur.

  17. Computed tomography of Rathke's cleft cyst

    International Nuclear Information System (INIS)

    Shiokawa, Yoshiaki; Teramoto, Akira; Mayanagi, Yoshiaki; Hanamura, Tetsu; Noguchi, Makoto; Takakura, Kintomo.

    1986-01-01

    The computed tomography (CT) findings in six cases of Rathke's cleft cyst (RCC) were presented. According to the location of the RCC, we divided these cases into two types - the suprasellar type and the intrasellar type. The characteristic CT findings are as follows: SUPRASELLAR type 1. smooth, round mass, 2. various densities, 3. no enhancement, INTRASELLAR type 1. low-density area in the posterior sella turcica, 2. no enhancement, 3. suprasellar high-density mass; enhanced pituitary gland pushed up by the intrasellar RCC. As RCC are more common than was formerly suspected, this disease should always be considered in the differential diagnosis of a patient showing a non-enhancing, non-calcified sellar/suprasellar cyst on CT scans. (author)

  18. Computed tomography of Rathke's cleft cyst

    Energy Technology Data Exchange (ETDEWEB)

    Shiokawa, Yoshiaki; Teramoto, Akira; Mayanagi, Yoshiaki; Hanamura, Tetsu; Noguchi, Makoto; Takakura, Kintomo

    1986-02-01

    The computed tomography (CT) findings in six cases of Rathke's cleft cyst (RCC) were presented. According to the location of the RCC, we divided these cases into two types - the suprasellar type and the intrasellar type. The characteristic CT findings are as follows: SUPRASELLAR type 1. smooth, round mass, 2. various densities, 3. no enhancement, INTRASELLAR type 1. low-density area in the posterior sella turcica, 2. no enhancement, 3. suprasellar high-density mass; enhanced pituitary gland pushed up by the intrasellar RCC. As RCC are more common than was formerly suspected, this disease should always be considered in the differential diagnosis of a patient showing a non-enhancing, non-calcified sellar/suprasellar cyst on CT scans.

  19. A comparative study of prelinguistic vocalizations in two groups of cleft toddlers and a non-cleft group

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Enemark, Hans

    2000-01-01

    . The results of this investigation were compared to results previously reported for 19 children with cleft palate and 19 noncleft children at the age of 13 months. The children with clefts in that study received a two-stage palatal surgery. This surgical procedure was formerly used at our center and included...... children in the comparison group. Both groups of subjects with clefts had significantly fewer plosives in their contoid inventory than the noncleft group, and there was no difference regarding place of articulation between the group that received delayed closure of the hard palate and the noncleft group.......Objective: This study examined the prelinguistic contoid (consonant-like) inventories of 14 children with unilateral cleft lip and palate (C-UCLP) at 13 months of age. The children had received primary veloplasty at 7 months of age and closure of the hard palate was performed at 3–5 years...

  20. Attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of nonsyndromic orofacial clefts in a semiurban set-up in India

    Directory of Open Access Journals (Sweden)

    Poornima Kadagad

    2011-01-01

    Full Text Available Objectives: To assess the attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of clefts and elective termination of pregnancy, and to investigate their opinion about who makes reproductive decisions in the family. Design: Two hundred subjects were included in the study prospectively regarding hypothetical prenatal ultrasound diagnosis of clefts. Setting: The study was done in a private tertiary care institution and a teaching hospital. Subjects/Participants: One hundred pregnant women consulting the Obstetrics department and 100 mothers of children with orofacial clefts in the Cleft and Craniofacial Unit were selected. Materials and Methods: Group I subjects were interviewed using a questionnaire and were shown preoperative and postoperative pictures of children treated for cleft lip and palate. Group II subjects were interviewed using a questionnaire. Results: Only 3% of Group I subjects and 2% of Group II opined that they would choose the elective termination of pregnancy if the fetus was diagnosed with a cleft on an ultrasound scan. In Group II, 70% subjects wished to have known about pregnancy affected with cleft prenatally and 96% said they would definitely avail ultrasound scans to determine pregnancy affected by clefts in future. Conclusions: Majority of the respondents from both the groups chose to continue with the pregnancy affected with a cleft when questioned regarding hypothetical prenatal ultrasound diagnosis of the cleft.

  1. Attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of nonsyndromic orofacial clefts in a semiurban set-up in India

    Science.gov (United States)

    Kadagad, Poornima; Pinto, Pascal; Powar, Rajesh

    2011-01-01

    Objectives: To assess the attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of clefts and elective termination of pregnancy, and to investigate their opinion about who makes reproductive decisions in the family. Design: Two hundred subjects were included in the study prospectively regarding hypothetical prenatal ultrasound diagnosis of clefts. Setting: The study was done in a private tertiary care institution and a teaching hospital. Subjects/Participants: One hundred pregnant women consulting the Obstetrics department and 100 mothers of children with orofacial clefts in the Cleft and Craniofacial Unit were selected. Materials and Methods: Group I subjects were interviewed using a questionnaire and were shown preoperative and postoperative pictures of children treated for cleft lip and palate. Group II subjects were interviewed using a questionnaire. Results: Only 3% of Group I subjects and 2% of Group II opined that they would choose the elective termination of pregnancy if the fetus was diagnosed with a cleft on an ultrasound scan. In Group II, 70% subjects wished to have known about pregnancy affected with cleft prenatally and 96% said they would definitely avail ultrasound scans to determine pregnancy affected by clefts in future. Conclusions: Majority of the respondents from both the groups chose to continue with the pregnancy affected with a cleft when questioned regarding hypothetical prenatal ultrasound diagnosis of the cleft. PMID:22279286

  2. Cleft lip and palate: recommendations for dental anesthetic procedure based on anatomic evidences

    Directory of Open Access Journals (Sweden)

    Ivy Kiemle Trindade-Suedam

    2012-02-01

    Full Text Available Patients with cleft lip and palate usually present dental anomalies of number, shape, structure and position in the cleft area and the general dentist is frequently asked to restore or extract those teeth. Considering that several anatomic variations are expected in teeth adjacent to cleft areas and that knowledge of these variations by general dentists is required for optimal treatment, the objectives of this paper are: 1 to describe changes in the innervation pattern of anterior teeth and soft tissue caused by the presence of a cleft, 2 to describe a local anesthetic procedure in unilateral and bilateral clefts, and 3 to provide recommendations to improve anesthetic procedures in patients with cleft lip and palate. The cases of 2 patients are presented: one with complete unilateral cleft lip and palate, and the other with complete bilateral cleft lip and palate. The patients underwent local anesthesia in the cleft area in order to extract teeth with poor bone support. The modified anesthetic procedure, respecting the altered course of nerves in the cleft maxilla and soft tissue alterations at the cleft site, was accomplished successfully and the tooth extraction was performed with no pain to the patients. General dentists should be aware of the anatomic variations in nerve courses in the cleft area to offer high quality treatment to patients with cleft lip and palate.

  3. Improved Early Cleft Lip and Palate Complications at a Surgery Specialty Center in the Developing World.

    Science.gov (United States)

    Park, Eugene; Deshpande, Gaurav; Schonmeyr, Bjorn; Restrepo, Carolina; Campbell, Alex

    2018-01-01

    To evaluate complication rates following cleft lip and cleft palate repairs during the transition from mission-based care to center-based care in a developing region. We performed a retrospective review of 3419 patients who underwent cleft lip repair and 1728 patients who underwent cleft palate repair in Guwahati, India between December 2010 and February 2014. Of those who underwent cleft lip repair, 654 were treated during a surgical mission and 2765 were treated at a permanent center. Of those who underwent cleft palate repair, 236 were treated during a surgical mission and 1491 were treated at a permanent center. Two large surgical missions to Guwahati, India, and the Guwahati Comprehensive Cleft Care Center (GCCCC) in Assam, India. Overall complication rates following cleft lip and cleft palate repair. Overall complication rates following cleft lip repair were 13.2% for the first mission, 6.7% for the second mission, and 4.0% at GCCCC. Overall complication rates following cleft palate repair were 28.0% for the first mission, 30.0% for the second mission, and 15.8% at GCCCC. Complication rates following cleft palate repair by the subset of surgeons permanently based at GCCCC (7.2%) were lower than visiting surgeons ( P cleft care delivery in the developing world can lead to decreased complication rates.

  4. Variation among cleft centres in the use of secondary surgery for children with cleft palate: a retrospective cohort study

    Science.gov (United States)

    Sitzman, Thomas J; Hossain, Monir; Carle, Adam C; Heaton, Pamela C; Britto, Maria T

    2017-01-01

    Objectives To test whether cleft centres vary in their use of secondary cleft palate surgery, also known as revision palate surgery, and if so to identify modifiable hospital factors and surgeon factors that are associated with use of secondary surgery. Design Retrospective cohort study. Setting Forty-three paediatric hospitals across the USA. Patients Children with cleft lip and palate who underwent primary cleft palate repair from 1999 to 2013. Main outcome measures Time from primary cleft palate repair to secondary palate surgery. Results We identified 4939 children who underwent primary cleft palate repair. At 10 years after primary palate repair, 44% of children had undergone secondary palate surgery. Significant variation existed among hospitals (ppalate repair before 9 months of age was associated with an increased hazard of secondary palate surgery (initial HR 6.74, 95% CI 5.30 to 8.73). Postoperative antibiotics, surgeon procedure volume and hospital procedure volume were not associated with time to secondary surgery (p>0.05). Of the outcome variation attributable to hospitals and surgeons, between-hospital differences accounted for 59% (ppalate surgery exists depending on a child’s age at primary palate repair and the hospital and surgeon performing their repair. Performing primary palate repair before 9 months of age substantially increases the hazard of secondary surgery. Further research is needed to identify other factors contributing to variation in palate surgery outcomes among hospitals and surgeons. PMID:29479567

  5. When there is more than a cleft: psychological adjustment when a cleft is associated with an additional condition.

    Science.gov (United States)

    Feragen, Kristin Billaud; Stock, Nicola Marie

    2014-01-01

    In spite of studies reporting a relatively high frequency of additional conditions in children with a cleft lip and/or cleft palate (CL/P), almost no research has focused on this clinically important subgroup. The objective of this study was to compare psychosocial adjustment in children with CL/P with and without an additional condition. Cross-sectional data based on routine psychological assessments at age 10 years, with comparisons to national reference groups. Centralized treatment, Norway. Two hundred five children with CL/P (participation rate: 80.1%) from three consecutive birth cohorts. The Strengths and Difficulties Questionnaire (self-report and parent report) and the Child Experience Questionnaire (self-report). Eighty-one children (39.5%) were identified as having at least one condition in addition to the cleft. These children reported significantly more psychosocial difficulties than children with a cleft alone. Differences between specific conditions were minor. Children with a cleft alone (n = 124) reported mean scores that were comparable to those reported by the reference group. There were no differences in adjustment between children with a visible versus a non-visible cleft. The present study highlights the need for research to be conducted in children with CL/P who have additional conditions to provide better knowledge and clinical care for a potentially vulnerable subgroup of children and their parents.

  6. Oral Cancer

    Science.gov (United States)

    Oral cancer can form in any part of the mouth. Most oral cancers begin in the flat cells that cover the ... your mouth, tongue, and lips. Anyone can get oral cancer, but the risk is higher if you are ...

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

    Science.gov (United States)

    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.

  8. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

    DEFF Research Database (Denmark)

    Rehman, Shoaib ur; Baig, Shahid Mahmood; Eiberg, Hans

    2011-01-01

    done in all sampled individuals in the family. The nuclear central loop in the five generation family showed homozygosity for a 6-Mb telomeric region on 11p15, whereas all other linkage regions were excluded by calculation of logarithm of odds (LOD) for the SNP microarray data. A maximum LOD score of Z......Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive...

  9. Radiographic study on maxillary sinus development and nasal septum deviation in cleft palate patient

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sam Sun; You, Dong Soo [Dept. of Oral Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

    1992-08-15

    This study was designed to investigate the effects of the maxillary sinus development and nasal septum deviation on diseases of maxillary sinus with cleft palate. The materials was 152 cephalometric Waters' projections consist of 76 cleft patients and 76 normal subjects. The results were as follows: 1. The disease of maxillary sinus was present in 49% of a cleft group and 14% of a control group, and prevalent in cleft side. 2. It showed no statistically significant difference in size of the maxillary sinus in cleft palate patients compared to the control population and in the cleft side to the noncleft side (p<0.05). 3. Nasal septum deviation was more severe in the cleft patient its average value was 3.55mm, compared to the control group, 0.99 mm (p<0.01) and 77% of the deviated nasal septum was deviated to the cleft side.

  10. Reconstruction of alveolar defects in patients with cleft lip and palate - 111 consecutive patients

    DEFF Research Database (Denmark)

    Andersen, Kristian

    2012-01-01

    Reconstruction of alveolar defects in patients with cleft lip and palate - 111 consecutive patients......Reconstruction of alveolar defects in patients with cleft lip and palate - 111 consecutive patients...

  11. Radiographic study on maxillary sinus development and nasal septum deviation in cleft palate patient

    International Nuclear Information System (INIS)

    Lee, Sam Sun; You, Dong Soo

    1992-01-01

    This study was designed to investigate the effects of the maxillary sinus development and nasal septum deviation on diseases of maxillary sinus with cleft palate. The materials was 152 cephalometric Waters' projections consist of 76 cleft patients and 76 normal subjects. The results were as follows: 1. The disease of maxillary sinus was present in 49% of a cleft group and 14% of a control group, and prevalent in cleft side. 2. It showed no statistically significant difference in size of the maxillary sinus in cleft palate patients compared to the control population and in the cleft side to the noncleft side (p<0.05). 3. Nasal septum deviation was more severe in the cleft patient its average value was 3.55mm, compared to the control group, 0.99 mm (p<0.01) and 77% of the deviated nasal septum was deviated to the cleft side.

  12. The Role of Lip Adhesion in the Treatment of Cleft Lips

    African Journals Online (AJOL)

    user

    2004-12-02

    Dec 2, 2004 ... presence of a wide alveolar cleft (gap>7mm) with severely malpositioned maxillary segments. LA was performed at ... example head caps and elastic bands and intraoral orthodontic .... arch alignment in bilateral cleft lip and.

  13. Cleft lip and palate review: Epidemiology, risk factors, quality of life, and importance of classifications

    Directory of Open Access Journals (Sweden)

    Laureen Supit

    2008-12-01

    Full Text Available Cleft lip with or without cleft palate is the most occurring craniofacial anomaly in human, resulting from a complex etiology involving multiple genetic and environmental factors. The defect carries lifelong morbidity and economic burden. Children with clefts will require continuous medical interventions for at least the first 18 years of life, affecting many aspects of their lives. The extent and complexity of clefts vary infinitely, later determining individual management and outcome. Identification and classification play significant roles in initial assessment of these unique cleft cases, which affect options for following correctional attempts. Some classifications even allow measurement of progress after anatomical repositioning, and success rate after surgical repairs. The challenge of developing one such widely inclusive classification is discussed. (Med J Indones 2008; 17: 226-39Keywords: Cleft lip, cleft palate, congenital anomaly, cleft  classfications

  14. Cleft-lift operation for pilonidal sinuses under tumescent local anesthesia

    DEFF Research Database (Denmark)

    Bertelsen, Claus Anders

    2011-01-01

    The use of tumescent local anesthesia in the Bascom cleft-lift procedure has not been described before.......The use of tumescent local anesthesia in the Bascom cleft-lift procedure has not been described before....

  15. Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting

    DEFF Research Database (Denmark)

    Roosenboom, Jasmien; Indencleef, Karlijne; Hens, Greet

    2017-01-01

    Nonsyndromic orofacial clefts (OFCs) are complex traits characterized by multifactorial inheritance and wide phenotypic variability. Numerous studies have shown subtle differences in the faces of unaffected relatives from cleft families compared to controls, the implication being that such outwar...

  16. Cleft lip and cleft palate relationship with familial marriage: a study in 136 cases

    Directory of Open Access Journals (Sweden)

    Azimi C

    2010-02-01

    Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} Background: Clefts of the lip and palate are one of the most common congenital birth anomalies. Genetic factors play a great role in the etiology of them and the high percentage of the consanguineous marriage of the parents of the affected persons is one of the reasons. These defects not only make abnormal changes on appearance of the neonate, but also make a lot of stress and psychological problems for the patients and their families. Study on the prevalence of clefts, their risk factors and also genetic counseling for affected persons and their families can be a guideline for general population and probably reduce these anomalies over the generations."n"nMethods: Patients referred to the Department of Genetics, Imam Khomeini Hospital, Tehran, Iran were studied. A total of 7374 pedigrees of all the patients admitted to the Department, were studied during 2002-2005 and 99 pedigrees with the patients with cleft lip± palate or isolated cleft palate were separated. The total number of cases among these 99 pedigrees was 136. The effects of consanguineous marriage, positive family history and sex were investigated among cases."n"nResults: 70.8% of patients with syndromic clefts and 58.7% of patients with nonsyndromic CL

  17. Cleft lip and palate in the arts: a critical reflection.

    Science.gov (United States)

    Saman, Masoud; Gross, Justin; Ovchinsky, Alexander; Wood-Smith, Donald

    2012-03-01

    The aesthetics of facial structure are used by humans to measure one's beauty, character, and overall "goodness." Individuals born with cleft lip and/or palate are often stigmatized and face much psychosocial adversity. Social attitudes and beliefs have a direct impact upon the psychological development of these individuals. Such social norms are in large part shaped by the physical representations of "good" and "attractive" in various art media including films, advertisements, and paintings. Individuals born with a cleft have been portrayed in the artworks of different eras. The light in which they are portrayed stems from the prevalent beliefs of each period and sheds light on the social attitudes of each epoch toward clefts. Here we discuss the social and psychological ramifications of these works. We then review several artworks representing cleft lip and/or palate and propose an active role for the artist in shaping social attitudes regarding facial deformities. Numerous articles and works of arts were examined and inspected for signs of facial deformity, with particular attention to cleft lip and/or palate. Social media have an important role in defining the norms of society. Much of the art of the past has depicted negatively individuals born with cleft lip and/or palate deformity, thus excluding them from the norm. In order to decrease the negative social stigmas of cleft lip and/or palate, it is now the responsibility of society to widen its range of norms to include individuals born with these deformities through "normal" representations in the various media.

  18. PREVALENCE OF CLEFT LIP AND PALATE IN GEORGIA.

    Science.gov (United States)

    Chincharadze, S; Vadachkoria, Z; Mchedlishvili, I

    2017-01-01

    Cleft lip and palate take significant place in congenital malformations. We aimed to study epidemiological peculiarities of these pathologies in Georgia for 2006-2015. We compared magnitude of its distribution with the data from 1981-1990. Prevalence of cleft lip and palate in Georgia in 2006-2015 was 0.95±0.04 per 1000 live births, while in 1981-1990- it was 1.05, i.e. in contrast to 1980's frequency of these pathological conditions decreased to some extent. Distribution of cleft lip and palate varies across the country regions. The most intensive spread has been observed in Mtskheta-Mtianeti region, where prevalence composed 2.28/1000. In the rest of the regions frequency of these pathologies is significantly lower. For instance, in Kakheti the rate is equal to 1,87/1000, in Kvemo Kartli - 1.56/1000, in Shida Kartli - 1.55/1000. In the rest of the regions prevalence rate is lower than the country average. It should be noted that in Tbilisi the rate is as low as 0.80/1000. The lowest level has been reported in Guria - 0.56/1000. Currently cleft lip with palate is the most frequently occurring anomaly in Georgia accounting for 39.8% of all congenital malformations. Cleft lip alone ranks the second - 36.1%, followed by cleft palate (24.1%). These pathologies are more frequent in boys than in girls. 60.3% of the cases are reported in males, in contrast to girls - 39.7% (pcleft palate is the most common among girls, but in our case, it had higher prevalence among boys, 53.6% vs. 46,4%. Thus cleft lip and palate distribution in Georgia is characterized by epidemiological peculiarities, which should be considered in implementation of preventive measures.

  19. Soft tissue augmentation techniques and materials used in the oral cavity : an overview

    NARCIS (Netherlands)

    Wolff, J.; Farré-Guasch, E.; Sándor, G.K.; Gibbs, S.; Jager, D.J.; Forouzanfar, T.

    2016-01-01

    Purpose: Oral soft tissue augmentation or grafting procedures are often necessary to achieve proper wound closure after deficits resulting from tumor excision, clefts, trauma, dental implants, and tooth recessions. Materials and Methods: Autologous soft tissue grafts still remain the gold standard

  20. Prevalence rate of supernumerary teeth among non-syndromic South Indian population: An analysis

    Directory of Open Access Journals (Sweden)

    M Nazargi Mahabob

    2012-01-01

    Full Text Available Aim: Supernumerary teeth are considered as one of the most significant dental anomalies during the primary and early mixed dentition stage. The main objective of the study was to determine the prevalence rate of supernumerary teeth in the patients who reported to the Department of Oral Medicine and Radiology and to study the associated clinical complications. Materials and Methods: A longitudinal observational study was conducted of 2216 patients for a period of 4 months with the documentation of demographic data, the presence of supernumerary teeth, their location, and associated complications such as mechanical trauma, dental caries, and associated pathology. Results: The study recorded 27 supernumerary teeth from the examined 2216 patients. This yields a prevalence of 1.2%, with greater frequency in males which was 1.49% and in females the frequency was 0.85%. The greatest proportion of supernumerary teeth was found in the maxillary anterior region (77.8%. Out of this, 85.7% were classified as mesiodens based on their location. The displacement of adjacent teeth was the most common finding, followed by dental caries. Conclusion: The prevalence of supernumerary teeth in this study was 1.2% which is in agreement with that reported in similar studies and the maxillary mesiodens was the most common location. Displacement of adjacent teeth was the most common finding.

  1. Centre-based statistics of cleft lip with/without alveolus and palate as well as cleft palate only patients in Aden, Yemen.

    Science.gov (United States)

    Esmail, Ahlam Hibatulla Ali; Abdo, Muhgat Ahmed Ali; Krentz, Helga; Lenz, Jan-Hendrik; Gundlach, Karsten K H

    2014-06-01

    The purpose of the study was to report the types and patterns of cleft lip with/without cleft alveolus and palate as well as cleft palate only as seen in Aden, Yemen. Retrospective, centre-based study conducted at the Cleft Lip and Palate Centre, Aden University, Yemen. Statistical evaluation of the data from all cleft patients who were registered at or referred to this centre during the years 2005-2011. A total of 1110 cleft patients were seen during the period studied (2005-2011). Amongst these there were 183 (16.48%) with a cleft lip and 144 (12.98) with a cleft of lip and alveolus, 228 (20.54%) had a cleft palate, and 555 (50%) had a combination of cleft lip, alveolus, and palate. The clefts were found more often in males than in females (56.5% boys versus 43.5% girls). This difference was statistically significant (p ≤ 0.001). Statistically significant sex differences were also noted when evaluating the various cleft types. Isolated cleft palates were found most often in females. Among the cleft palate cases there were 102 (9.2%) with a cleft soft palate only. The ages of the patients were between one day and 40 years. Two hundred and one children (18%) had a positive family history of clefts. Among the risk factors considered in this study, consanguineous marriages among cousins were found most frequently (in 48% of the cases). In contrast to this, only 10% of the mothers had reported to have been taking medication directly prior to or during the first trimester of their pregnancy. On average the mothers were neither very young nor very old. The prevalence rate of orofacial cleft types among this Yemeni sample was similar to prevalence rates previously reported in white Caucasians. The present study did neither find many cases with medication before, nor during, pregnancy; there were few young or very old mothers; and the incidence of positive family histories was similar to those found in other studies on clefts. However, consanguineous marriages were

  2. Unilateral cleft lip and palate : treatment outcome and long-term craniofacial growth

    NARCIS (Netherlands)

    Nollet, Petrus Josephus Paulinus Maria

    2006-01-01

    Treatment results of children with a complete Unilateral Cleft Lip and Palate (UCLP) from the Cleft Palate Craniofacial Unit of the Radboud University Nijmegen Medical Centre were evaluated and compared with prominent European cleft centers. Treatment outcome of the Nijmegen patients with UCLP and

  3. Speech and language development in toddlers with and without cleft palate

    NARCIS (Netherlands)

    Priester, G. H.; Goorhuis-Brouwer, S. M.

    Objective: The effect of early palate closure on speech and language development in children with cleft palate. Design: Comparative study. Setting: University Medical Center Groningen, Cleft Palate Team (The Netherlands). Materials and methods: Forty-three toddlers with cleft palate and thirty-two

  4. Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study

    Directory of Open Access Journals (Sweden)

    Alice V. Pereira, MD

    2018-02-01

    Conclusions:. The overall prevalence of associated malformations of nearly 1 in 3 children with orofacial clefts stressed the need for a comprehensive evaluation of these patients by a multidisciplinary cleft team. Moreover, one-third of the children had multiple congenital anomalies of known origins. Thus, early routine screening for other malformations and genetic counseling might be valuable for orofacial clefts management.

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

    Science.gov (United States)

    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…

  6. Antenatal determinants of oro-facial clefts in Southern Nigeria | Omo ...

    African Journals Online (AJOL)

    Objectives: Cleft lip with or without cleft palate, is the most common serious congenital anomaly that affects the orofacial regions. The management and care of the cleft patient constitutes a substantial proportion of the workload of the Nigerian maxillofacial surgeon and allied specialties. Yet, there are no specific ...

  7. Children with Diagnoses of Cleft Lip and/or Palate: What School Psychologists Need to Know

    Science.gov (United States)

    Kowalewicz, Eva Aleksandra; Ausikaitis, Ashley Etzel; Kapp-Simon, Kathleen A.

    2016-01-01

    This article presents a review of the literature on orofacial clefting in children. The authors review the etiology, prevalence, and variations of clefting as well as issues related to neuropsychological, social, academic, emotional, and behavioral functioning of children with clefts. Finally, the authors discuss the implications for school…

  8. What does magnetic resonance imaging add to the prenatal ultrasound diagnosis of facial clefts?

    Science.gov (United States)

    Mailáth-Pokorny, M; Worda, C; Krampl-Bettelheim, E; Watzinger, F; Brugger, P C; Prayer, D

    2010-10-01

    Ultrasound is the modality of choice for prenatal detection of cleft lip and palate. Because its accuracy in detecting facial clefts, especially isolated clefts of the secondary palate, can be limited, magnetic resonance imaging (MRI) is used as an additional method for assessing the fetus. The aim of this study was to investigate the role of fetal MRI in the prenatal diagnosis of facial clefts. Thirty-four pregnant women with a mean gestational age of 26 (range, 19-34) weeks underwent in utero MRI, after ultrasound examination had identified either a facial cleft (n = 29) or another suspected malformation (micrognathia (n = 1), cardiac defect (n = 1), brain anomaly (n = 2) or diaphragmatic hernia (n = 1)). The facial cleft was classified postnatally and the diagnoses were compared with the previous ultrasound findings. There were 11 (32.4%) cases with cleft of the primary palate alone, 20 (58.8%) clefts of the primary and secondary palate and three (8.8%) isolated clefts of the secondary palate. In all cases the primary and secondary palate were visualized successfully with MRI. Ultrasound imaging could not detect five (14.7%) facial clefts and misclassified 15 (44.1%) facial clefts. The MRI classification correlated with the postnatal/postmortem diagnosis. In our hands MRI allows detailed prenatal evaluation of the primary and secondary palate. By demonstrating involvement of the palate, MRI provides better detection and classification of facial clefts than does ultrasound alone. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.

  9. Exploring Subclinical Phenotypic Features in Twin Pairs Discordant for Cleft Lip and Palate

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Carlson, Jenna C; Cooper, Margaret E

    2017-01-01

    OBJECTIVE: Monozygotic twins of an individual with an orofacial cleft have a significantly elevated risk for orofacial cleft compared with the general population, but still the concordance rate for orofacial cleft in monozygotic twins is about 40% to 50%. The goal of this study was to determine w...

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

    Energy Technology Data Exchange (ETDEWEB)

    Blanton, S.H. [Univ. of Virginia, Charlottesville, VA (United States); Malcolm, S.; Winter, R. [Institute of Child Health, London (United Kingdom)] [and others

    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.

  11. An investigation into the variables associated with length of hospital stay related to primary cleft lip and palate surgery and alveolar bone grafting.

    Science.gov (United States)

    Izadi, N; Haers, P E

    2012-10-01

    This retrospective study evaluated variables associated with length of stay (LOS) in hospital for 406 admissions of primary cleft lip and palate and alveolus surgery between January 2007 and April 2009. Three patients were treated as day cases, 343 (84%) stayed one night, 48 (12%) stayed 2 nights and 12 (3%) stayed > 2 nights. Poisson regression analysis showed that there was no association between postoperative LOS and age, distance travelled, diagnosis and type of operation, with a p value > 0.2 for all variables. 60/406 patients stayed 2 nights or more postoperatively mostly due to poor pain control and inadequate oral intake. Patients with palate repair were more likely to have postoperative LOS > 1 night, compared to patients with lip repair, p value = 0.011. Four patients (1%), all of whom had undergone cleft palate surgery, were readmitted within 4 weeks of the operation due to respiratory obstruction or haemorrhage. Using logistic regression, evidence showed that these readmissions were related to a longer original postoperative LOS. This study shows that length of stay for primary cleft lip, palate and alveolus surgery can in most cases be limited to one night postoperatively, provided that adequate support can be provided at home. Copyright © 2012 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  12. Accuracy of both virtual and printed 3-dimensional models for volumetric measurement of alveolar clefts before grafting with alveolar bone compared with a validated algorithm: a preliminary investigation.

    Science.gov (United States)

    Kasaven, C P; McIntyre, G T; Mossey, P A

    2017-01-01

    Our objective was to assess the accuracy of virtual and printed 3-dimensional models derived from cone-beam computed tomographic (CT) scans to measure the volume of alveolar clefts before bone grafting. Fifteen subjects with unilateral cleft lip and palate had i-CAT cone-beam CT scans recorded at 0.2mm voxel and sectioned transversely into slices 0.2mm thick using i-CAT Vision. Volumes of alveolar clefts were calculated using first a validated algorithm; secondly, commercially-available virtual 3-dimensional model software; and finally 3-dimensional printed models, which were scanned with microCT and analysed using 3-dimensional software. For inter-observer reliability, a two-way mixed model intraclass correlation coefficient (ICC) was used to evaluate the reproducibility of identification of the cranial and caudal limits of the clefts among three observers. We used a Friedman test to assess the significance of differences among the methods, and probabilities of less than 0.05 were accepted as significant. Inter-observer reliability was almost perfect (ICC=0.987). There were no significant differences among the three methods. Virtual and printed 3-dimensional models were as precise as the validated computer algorithm in the calculation of volumes of the alveolar cleft before bone grafting, but virtual 3-dimensional models were the most accurate with the smallest 95% CI and, subject to further investigation, could be a useful adjunct in clinical practice. Copyright © 2016 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  13. First branchial cleft anomaly, a case for misdiagnosis.

    Science.gov (United States)

    Lanisnik, Bostjan; Didanovic, Vojko; Cizmarevic, Bogdan

    2004-01-01

    First branchial cleft anomaly is a rare condition that is often misdiagnosed and falsely mistreated before complete and definitive surgical treatment. Its origin is uncertain and the presence of ectodermal and sometimes also mesodermal elements has led some authors to the conclusion that it represents buried nests of cells forming the first branchial cleft and the underlying mesoderm. First branchial cleft anomaly can be presented as a cystic lesion, fistula or sinus extending towards the membranous external ear canal. The sinus tract runs through the parotid gland in close association with the facial nerve. There is no imaging method capable of identifying a first branchial cleft anomaly with certainty. The danger of facial nerve injury during surgery and the failure to identify the sinus tract running to the external ear canal are the main reasons for incomplete excision. The facial nerve must be identified and preserved and the lesion completely excised. Facial nerve injury is more common in attempts to remove recurrent branchial cleft lesions.

  14. Association between maternal smoking, gender, and cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Daniella Reis Barbosa Martelli

    2015-10-01

    Full Text Available ABSTRACT INTRODUCTION: Cleft lip and/or palate (CL/P represent the most common congenital anomalies of the face. OBJECTIVE: To assess the relationship between maternal smoking, gender and CL/P. METHODS: This is an epidemiological cross-sectional study. We interviewed 1519 mothers divided into two groups: Cases: mothers of children with CL/P (n = 843 and Controls: mothers of children without CL/P (n = 676. All mothers were classified as smoker or non-smoker subjects during the first trimester of pregnancy. To determine an association among maternal smoking, gender, and CL/P, odds ratios were calculated and the adjustment was made by a logistic regression model. RESULTS: An association between maternal smoking and the presence of cleft was observed. There was also a strong association between male gender and the presence of cleft (OR = 3.51; 95% CI 2.83-4.37. By binary logistic regression analysis, it was demonstrated that both variables were independently associated with clefts. In a multivariate analysis, male gender and maternal smoking had a 2.5- and a 1.5-time greater chance of having a cleft, respectively. CONCLUSION: Our findings are consistent with a positive association between maternal smoking during pregnancy and CL/P in male gender. The results support the importance of smoking prevention and introduction of cessation programs among women with childbearing potential.

  15. Association between maternal smoking, gender, and cleft lip and palate.

    Science.gov (United States)

    Martelli, Daniella Reis Barbosa; Coletta, Ricardo D; Oliveira, Eduardo A; Swerts, Mário Sérgio Oliveira; Rodrigues, Laíse A Mendes; Oliveira, Maria Christina; Martelli Júnior, Hercílio

    2015-01-01

    Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face. To assess the relationship between maternal smoking, gender and CL/P. This is an epidemiological cross-sectional study. We interviewed 1519 mothers divided into two groups: mothers of children with CL/P (n=843) and mothers of children without CL/P (n=676). All mothers were classified as smoker or non-smoker subjects during the first trimester of pregnancy. To determine an association among maternal smoking, gender, and CL/P, odds ratios were calculated and the adjustment was made by a logistic regression model. An association between maternal smoking and the presence of cleft was observed. There was also a strong association between male gender and the presence of cleft (OR=3.51; 95% CI 2.83-4.37). By binary logistic regression analysis, it was demonstrated that both variables were independently associated with clefts. In a multivariate analysis, male gender and maternal smoking had a 2.5- and a 1.5-time greater chance of having a cleft, respectively. Our findings are consistent with a positive association between maternal smoking during pregnancy and CL/P in male gender. The results support the importance of smoking prevention and introduction of cessation programs among women with childbearing potential. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  16. Presurgical cleft lip and palate orthopedics: an overview

    Science.gov (United States)

    Alzain, Ibtesam; Batwa, Waeil; Cash, Alex; Murshid, Zuhair A

    2017-01-01

    Patients with cleft lip and/or palate go through a lifelong journey of multidisciplinary care, starting from before birth and extending until adulthood. Presurgical orthopedic (PSO) treatment is one of the earliest stages of this care plan. In this paper we provide a review of the PSO treatment. This review should help general and specialist dentists to better understand the cleft patient care path and to be able to answer patient queries more efficiently. The objectives of this paper were to review the basic principles of PSO treatment, the various types of techniques used in this therapy, and the protocol followed, and to critically evaluate the advantages and disadvantages of some of these techniques. In conclusion, we believe that PSO treatment, specifically nasoalveolar molding, does help to approximate the segments of the cleft maxilla and does reduce the intersegment space in readiness for the surgical closure of cleft sites. However, what we remain unable to prove equivocally at this point is whether the reduction in the dimensions of the cleft presurgically and the manipulation of the nasal complex benefit our patients in the long term. PMID:28615974

  17. Causal attributions of cleft lip and palate across cultures.

    Science.gov (United States)

    Mednick, Lauren; Snyder, Julie; Schook, Carolyn; Blood, Emily A; Brown, Shan-Estelle; Weatherley-White, R C A

    2013-11-01

    Objective : To describe and compare the causal beliefs associated with cleft lips and/or palates across several different countries. Design : Cross-sectional survey. Setting : Operation Smile surgery screenings in six developing countries. Participants : Two hundred seventy-nine adult patients and parents of children with cleft lips and/or palates in Kenya, Russia, Cambodia, India, Egypt, and Peru. Interventions : In person interviews were conducted with interpreters. Main Outcome Measure : As part of a larger study, a semistructured questionnaire was created to explore cleft perceptions, belief systems that affect these perceptions, and social reactions to individuals with clefts. Results : Causal attributions were grouped by category (environment, self-blame, supernatural, chance, unknown, or other) and type of locus of control (external, internal, or unknown). Results indicate significant difference by country for both causal attribution category (P < .001) and type (P < .001). This difference was maintained in multivariate analyses, which controlled for differences by demographic variables between countries. Conclusions : This study provides evidence that causal attributions for clefts are influenced by culture. As harmful beliefs about cause may continue to impact affected individuals and their families even after a repair, it is insufficient to provide surgical care alone. Care of the entire person must include attempts to change misinformed cultural beliefs through educating the broader community.

  18. Clinical presentation of epignathus teratoma with cleft palate; and duplication of cranial base, tongue, mandible, and pituitary gland.

    Science.gov (United States)

    Maeda, Yujiro; Suenaga, Hideyuki; Sugiyama, Madoka; Saijo, Hideto; Hoshi, Kazuto; Mori, Yoshiyuki; Takato, Tsuyoshi

    2013-07-01

    A 2-day-old girl was diagnosed with an oral epignathus teratoma and an uncommon combination of orofacial malformations including cleft palate; tongue, mandible, cranial base, cervical vertebrae, lower lip, and pituitary gland duplications; and fistula of the glabella and lower lip. Computed tomography revealed that the mass within the nasal cavity had tooth-like calcifications and protruded into the nasopharynx and oral cavity. It was implanted on the anterior wall of the body of the sphenoid bone and was accompanied with mandibular duplication. Magnetic resonance imaging detected duplication of the pituitary gland and confirmed the absence of intracranial communication of the nasopharyngeal mass. The teratoma did not cause respiratory obstruction; however, the patient required continuous nasogastric tube feeding. Usually, an epignathus teratoma is associated with few midline defects and can be corrected with multiple interventions at different time points. The current study describes the surgical procedure comprising excision of the tumor along with reconstructive surgeries of the mandible, tongue, and fistulae undertaken when the infant reached 7 months of age. The cleft palate was repaired at 18 months of age using the Kaplan buccal flap method. Histopathologic examination confirmed a grade 0 teratoma covered with keratinized skin and containing pilosebaceous and sweat glands, adipose tissue, and smooth muscle. The long-term success of this intervention was determined at the follow-up examination conducted at 3 years of age, with no signs of the teratoma recurrence observed.

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

    Energy Technology Data Exchange (ETDEWEB)

    Marazita, M.L. (Virginia Commonwealth Univ., Richmond, VA (United States)); Hu, Dan-Ning; Liu, You-E. (Zhabei Eye Institute, Shanghai (China)); Spence, A. (Univ. of California, Los Angeles, CA (United States)); Melnick, M. (Univ. of Southern California, Los Angeles, CA (United States))

    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.

  20. Assessment of folic acid and DNA damage in cleft lip and cleft palate

    Directory of Open Access Journals (Sweden)

    Sivakumar Brooklyin

    2014-03-01

    Full Text Available Studies have identified the risk factors like folic acid deficiency during gestational period, family history for orofacial clefts, drugs like antiepileptic, vitamin A. But, the data regarding the folic acid status in children with cleft lip/palate is hardly evaluated in depth. Here, an assessment of folic acid and DNA damage were carried out in children with orofacial anomalies. Folic acid level and DNA damage were evaluated by folic acid assay (direct chemiluminescent technology and single cell gel electrophoresis or comet assay method respectively. The mean value of plasma folic acid by direct chemiluminescent technology was 6.5±3.6 nmol/L and the normal value in children ranges from 11.3 to 47.6 nmol/L. The amount of damaged DNA, measured as the tail length of the comet in cases, was 19.4±8.9 ?m and the mean percentage of DNA in tail was 16.5±3.7. Folic acid deficiency could be the reason for DNA damage.