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Sibele Nascimento de Aquino Lívia Máris Ribeiro Paranaíba Daniella Reis Barbosa Martelli Mário Sérgio Oliveira Swerts Letízia Monteiro de Barros Paulo Rogério Ferreti Bonan Hercílio Martelli Júnior 《Revista brasileira de otorrinolaringologia (English ed.)》2011,77(1):19-23
Cleft lip and/or palate (CL/P) are the most common congenital anomalies of the face. CL/P are non-syndromic (CL/PNS) in about 70% of subjects.Aim: To describe clinical cases of non-syndromic CL/P (CL/PNS) associated with consanguinity, diagnosed at a reference hospital in Minas Gerais, Brazil, and to correlate these alterations with possible risk factors.Series and Methods: A retrospective study at a reference hospital for craniofacial deformities in Minas Gerais, Brazil from 2006 to 2009 based on data in medical records.Results: Of 246 CL/PNS cases diagnosed and treated at the institution, 15 (6.1%) were CL/PNS with reported first-degree consanguinity; 73.3% occurred in males. Four of 15 patients had complete right cleft palate and lip (CLP), 4 presented complete cleft palate and lip (right and left), 3 had complete unilateral left CLP, 3 had isolated cleft palate, and 1 presented cleft lip only. Among the risk factors, only three mothers reported smoking during pregnancy.Conclusions: CLP (unilateral or bilateral) were more frequent in the group with a history of first-degree consanguinity; males predominated. Among the risk factors, only smoking was observed in three cases. 相似文献
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Volumetric nasal cavity analysis in children with unilateral and bilateral cleft lip and palate 下载免费PDF全文
Zainab Farzal BS Jonathan Walsh MD Gabriella Lopes de Rezende Barbosa DDS MS Carlton J. Zdanski MD FACS Stephanie D. Davis MD Richard Superfine PhD Luiz A. Pimenta DDS MS PhD Julia S. Kimbell PhD Amelia Fischer Drake MD FACS 《The Laryngoscope》2016,126(6):1475-1480
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Lívia Máris Ribeiro Paranaíba Roseli Teixeira de Miranda Daniella Reis Barbosa Martelli Paulo Rogério Ferreti Bonan Hudson de Almeida Julian Miranda Orsi Júnior Hercílio Martelli Júnior 《Revista brasileira de otorrinolaringologia (English ed.)》2010,76(5):649-653
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.Aimto 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.Materials and Methodswe carried out a retrospective study, between the years of 1992 and the 1st half of 2009, from medical records.ResultsAmong 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.ConclusionsThis 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. 相似文献
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L. M. Bariar Imran Ahmad S. C. Sharma 《Indian journal of otolaryngology and head and neck surgery》2001,53(3):250-252
32 patients of cleft palate with or without cleft lip were subjected to otorhinological study from January 1998 to September
2000, with special attention to the rhinological anomalies, ear pathology, any deafness, discharge or any other findings relevant
to the middle ear. Hearing loss and ear changes were not seen in any patient with cleft lip alone, hence these patients were
not included in this study. These changes were confined to the patients with cleft palate only, with or without cleft lip.
High incidence of otological anomalies (75%) and rhinological anomalies (deviated nasal septum in 40.6%) were seen in patients
with cleft palate with or without cleft lip. Hearing loss has been seen (37.5%) in patients with cleft palate and was purely
conductive in nature. 相似文献
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目的:探讨唇腭裂术后患儿的听力学特征。方法:对62例唇腭裂术后患儿进行DPOAE、ABR和声导抗检查,分析其听力学检查结果。结果:以ABR阈值为诊断标准,诊断为听力异常者共51耳,以轻度和中度异常为主;63耳鼓室导抗图异常,表现为不同程度的中耳功能障碍;26耳DPOAE检查未通过。结论:唇腭裂术后患儿听力异常的比例高。3种客观听力学检查方法在唇腭裂术后的患儿检查中具有高度一致性。 相似文献
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Human genetic factors in nonsyndromic cleft lip and palate: an update 总被引:12,自引:0,他引:12
Carinci F Scapoli L Palmieri A Zollino I Pezzetti F 《International journal of pediatric otorhinolaryngology》2007,71(10):1509-1519
Nonsyndromic cleft lip and/or palate (or orofacial cleft, OFC) is a malformation characterized by an incomplete separation between nasal and oral cavities without any associated anomalies. The last point defines the distinction between syndromic and nonsyndromic OFC. Nonsyndromic OFC is one of the most common malformations among live births and is composed of two separate entities: cleft lip with or without cleft palate (CL+/-P) and cleft palate isolated (CPI). Because of the complex etiology of nonsyndromic OFC, which is due to the differences between CL+/-P and CPI, and the heterogeneity of each group, caused by the number of genes involved, the type of inheritance, and the interaction with environmental factors, we reviewed those genes and available loci in the literature whose involvement in the onset of nonsyndromic OFC has more sound scientific evidence. Genetic studies on human populations have demonstrated that CL+/-P and CPI have distinct genetic backgrounds and, therefore, environmental factors probably disclose only these malformations. In CL+/-P several loci, OFC from 1 to 10 have been identified. The first locus, OFC1, has been mapped to chromosome 6p24. Other CL+/-P loci have been mapped to 2p13 (OFC2), 19q13.2 (OFC3) and 4q (OFC4). OFC5-8 are identified by mutations in the MSX1, IRF6, PVRL1, and TP73L gene, respectively. OFC9 maps to 13q33.1-q34, whereas OFC10 is associated with haploinsufficiency of the SUMO1 gene. In addition, MTHFR, TGF-beta3, and RARalpha play a role in cleft onset. In CPI one gene has been identified (TBX22) at present, but others are probably involved. Greater efforts are necessary in order to have a complete picture of the main factors involved in lip and palate formation. These elements will permit us to better understand and better treat patients affected by OFC. 相似文献
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IntroductionThe aim of this study was to assess speech outcomes and dental arch relationship of 5-year-old Czech patients with unilateral cleft lip and palate (UCLP) who have undergone neonatal cleft lip repair and one-stage palatal closure.Methods and materialsTwenty-three patients with UCLP, born between 2009 and 2010, were included in the study. Three universal speech parameters (hypernasality, articulation and speech intelligibility) have been devised for speech recordings evaluation. Outcomes of dental arch relationship were evaluated by applying the GOSLON Yardstick and subsequently compared with the GOSLON outcome of other cleft centers.ResultsModerate hypernasality was present in most cases, the mean value for articulation and speech intelligibility was 2.07 and 1.93, respectively. The Kappa values for inter-examiner agreement for all the three speech outcomes ranged from 0.786 to 0.808. Sixty-three percent of patients were scored GOSLON 1 and 2, 26% GOSLON 3, and 10% GOSLON 4. GOSLON mean score was 2.35. Interrater agreement was very good, represented by kappa value of 0.867.ConclusionThe treatment protocol, involving neonatal cleft lip repair and one-stage palatal repair performed up to the first year of UCLP patient's life, has shown good speech outcomes and produced very good treatment results in regard to maxillary growth, comparable with other cleft centers. 相似文献
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Jiad N. Mcheik Guillaume Levard 《International journal of pediatric otorhinolaryngology》2010,74(5):465-468
Objective
To evaluate the growth during the first two years of life in infants after unilateral cleft lip and palate neonatal repair.Method
All mature infants with nonsyndromic unilateral cleft lip and palate (NSUCLP) born between 2004 and 2007 were included. Information concerning growth was collected. Weight and length at birth, 6, 12, 18 and 24 months of age measurements and data regarding feeding were obtained.Results
Weight and length at birth, 6, 12, 18 and 24 months of age were identical with reference curve values. Children with NSUCLP showed a normal growth at two years. The weight curves lie between 5th and the 50th percentile for girls and between 10th and higher than the 97th percentile for boys. The height curves lie between −1 Standard Deviation and +1 Standard Deviation for girls and 0 and +2 Standard Deviation for boys.Conclusion
Feeding difficulties are reported in infants with cleft lip and/or palate CLP/CP. However, the growth in children with NSUCLP and after neonatal cleft lip repair is identical with reference curve values. 相似文献11.
M. Martinelli L. Scapoli G. Spinelli F. Carinci 《International journal of pediatric otorhinolaryngology》2009,73(7):929-931
Objectives
Nonsyndromic cleft lip with or without cleft palate (CL/P) is a frequent craniofacial malformation with a complex aetiology. Since the first report of an association between DNA sequence variants at the transforming growth factor α gene (TGFA) and nonsyndromic oral clefts, several studies have been carried out, which have produced conflicting results. Overall, TGFA is considered as a genetic clefting modifier in humans. Murine models indicate that the Tgfa product (tgfα), as well as its receptor (Egfr), actively participates in palate development. Notably, Egfr null mice showed an increased incidence in orofacial clefts.In the present study, genes which code for subunits of epidermal growth factor receptors (EGFRs) have been considered as candidate genes for CL/P.Methods
A family based investigation was performed using a sample of 239 case/parent triads. The aim was to test for an allelic association between common non-synonymous polymorphisms in EGFR genes and CL/P.Results and conclusion
The results did not suggest any evidence of a link between the investigated polymorphisms and CL/P, however the involvement of different polymorphisms or mutations in such genes cannot be excluded. 相似文献12.
ObjectivesThis 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.MethodA 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.ResultDental 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.ConclusionsThis 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. 相似文献
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Rajion ZA Al-Khatib AR Netherway DJ Townsend GC Anderson PJ McLean NR Samsudin AR 《International journal of pediatric otorhinolaryngology》2012,76(2):227-234
Objective
The purpose of this study was to use three-dimensional computed tomography data and computer imaging technology to assess the skeletal components of the naso-pharyngeal area in patients with cleft lip and palate and to quantify anatomical variations.Methods
CT scans were obtained from 29 patients of Malay origin with cleft lip and palate aged between 0 and 12 months and 12 noncleft patients in the same age group, using a GE Lightspeed Plus Scanner housed in Hospital Universiti Sains Malaysia. Measurements were obtained using the ‘Persona’ three-dimensional software package, developed at Australian Craniofacial Unit, Adelaide.Results
The results of the present study show that there is an increased nasopharyngeal space in cleft lip and palate that may lead to compression of the nasopharyngeal structures, including the Eustachian tube. Alterations of the medial pterygoid plate and the hamulus may lead to an alteration in the origin and orientation of the tensor veli palatini muscle leading to alteration in its function.Conclusions
These anatomical variations may compromise the dilatory mechanism of the Eustachian tube, thus leading to recurrent middle ear infections in cleft children and subsequent loss of hearing. 相似文献14.
Three‐dimensional evaluation of nasopharyngeal airways of unilateral cleft lip and palate patients 下载免费PDF全文
Luiz A. Pimenta DDS MS PhD Gabriella Lopes de Rezende Barbosa DDS MS Henrique Pretti DDS MS PhD Omri Emodi DMD John van Aalst MD FACS Paul E. Rossouw DDS PhD Donald A. Tyndall DDS MS PhD Amelia F. Drake MD FACS 《The Laryngoscope》2015,125(3):736-739
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Aim Malonyl-CoA is regarded as a key signaling molecule in mammalian cells. It is converted to acetyl-CoA, and to a lesser extent, to malonyl acid and malonylcarnitine (C3DC).Availability of carnitine has been reported to be essential for the developing fetus. The objectives of the present study were to analyze associations of malonylcarnitine, acetylcarnitine (C2), and free carnitine (C0) in subjects with orofacial clefts.Methodology We performed a retrospective analysis of carnitine concentration obtained from a newborn screening program carried out in our institution. Concentrations of whole blood malonylcarnitine, acetylcarnitine, and free carnitine were measured using tandem mass spectrometry.The study group consisted of 51 children with nonsyndromic cleft lip with or without cleft palate. In total,106 healthy children without congenital anomalies served as controls. Cut-off points were established using likelihood ratio values.Results The mean concentration of malonylcarnitine in the cleft group was lower than that of the control group,In patients with orofacial cleft, low malonylcarnitine levels healthy individuals (P=0.03). The mean concentration of acetylcarnitine was also lower in affected newborns in respectively (P=0.026). After analysis of acetylcarnitine and free carnitine concentrations, the likelihood ratio test did not indicate valuable cut-off points.Conclusion The study provides initial data indicating a potential association between decreased malonylcarnitine and abnormal palatogenesis. 相似文献
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Zahra Rafiqdoost Amir Rafiqdoost Houshang Rafiqdoost Mohammad Hashemi Jina Khayatzadeh Ebrahim Eskandari-Nasab 《International journal of pediatric otorhinolaryngology》2014