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Sample records for complete cleft lip

  1. Cleft Lip and Cleft Palate

    MedlinePlus

    ... Age Support Resources Books for Kids and Adults Cleft Lip/Palate & Craniofacial Specialists in Your Area FAQs for Parents ... cleft palate, or both cleft lip and cleft palate. Cleft lip and cleft palate are congenital defects, or birth ...

  2. Cleft Lip and Palate

    MedlinePlus

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Cleft Lip and Palate KidsHealth > For Teens > Cleft Lip and Palate Print ... slight scar on her upper lip. What Are Cleft Lip and Palate? Cleft lip and palate are birth defects that ...

  3. Cleft lip and palate

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/001051.htm Cleft lip and palate To use the sharing features on this page, please enable JavaScript. Cleft lip and palate are birth defects that affect the upper lip ...

  4. Cleft Lip and Cleft Palate

    MedlinePlus

    ... and advocacy priorities National Network of Perinatal Quality Collaboratives Launch Prematurity research centers What is team science? ... how the body develops or how the body works. Cleft lip and cleft palate are common birth ...

  5. PATTERN OF DISOCCLUSION IN PATIENTS WITH COMPLETE CLEFT LIP AND PALATE

    PubMed Central

    Matos, Daniella Andaluza Dias; Teixeira, Marcelo Lucchesi; Pinto, João Henrique Nogueira; Lopes, José Fernando Scarelli; Dalben, Gisele da Silva

    2006-01-01

    Objective: to analyze the pattern of disocclusion during excursive mandibular movements and presence or absence of occlusal interferences and occlusal pathologies (gingival recession and abfraction). Method: examination of 120 individuals divided into two groups, as follows: Group 1-90 patients with complete cleft lip and palate (study group), subdivided into 30 patients with complete left unilateral cleft lip and palate, 30 patients with complete right unilateral cleft lip and palate and 30 patients with complete bilateral cleft lip and palate; Group 2-30 individuals without clefts (control group). Results: 58.8% of patients in Group 1 presented unilateral or bilateral canine guidance, 26.6% presented unilateral or bilateral group function and 54.4% presented lateral movements through the posterior teeth. Regarding protrusive movements, 80% presented anterior guidance and 20% presented posterior guidance. In Group 2, 69.6% of individuals presented unilateral or bilateral canine guidance, 43.2% presented unilateral or bilateral group function and only 13.3% presented lateral movements through the posterior teeth; 3.4% presented protrusion through the posterior teeth. Conclusions: there was no difference in the pattern of disocclusion between subgroups of patients with clefts. Group 2 presented predominance of bilateral group function, whereas Group 1 presented a higher prevalence of posterior guidance during lateral movements. Protrusion occurred primarily through anterior guidance in Group 2 and through the posterior teeth in Group 1. There was high prevalence of occlusal interferences at the molar area for both groups, yet with no correlation with occlusal pathologies (recession and abfraction). PMID:19089065

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

    PubMed

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

    2012-10-01

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

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

    PubMed Central

    Tanasiewicz, Marta

    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. PMID:28393073

  8. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate

    PubMed Central

    Jezewski, P; Vieira, A; Nishimura, C; Ludwig, B; Johnson, M; O'Brien, S; Daack-Hirsch, S; Schultz, R; Weber, A; Nepomucena, B; Romitti, P; Christensen, K; Orioli, I; Castilla, E; Machida, J; Natsume, N; Murray, J

    2003-01-01

    MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate. Support for this comes from human linkage and linkage disequilibrium studies, chromosomal deletions resulting in haploinsufficiency, a large family with a stop codon mutation that includes clefting as a phenotype, and the Msx1 phenotype in a knockout mouse. This report describes a population based scan for mutations encompassing the sense and antisense transcribed sequence of MSX1 (two exons, one intron). We compare the completed genomic sequence of MSX1 to the mouse Msx1 sequence to identify non-coding homology regions, and sequence highly conserved elements. The samples studied were drawn from a panethnic collection including people of European, Asian, and native South American ancestry. The gene was sequenced in 917 people and potentially aetiological mutations were identified in 16. These included missense mutations in conserved amino acids and point mutations in conserved regions not identified in any of 500 controls sequenced. Five different missense mutations in seven unrelated subjects with clefting are described. Evolutionary sequence comparisons of all known Msx1 orthologues placed the amino acid substitutions in context. Four rare mutations were found in non-coding regions that are highly conserved and disrupt probable regulatory regions. In addition, a panel of 18 population specific polymorphic variants were identified that will be useful in future haplotype analyses of MSX1. MSX1 mutations are found in 2% of cases of clefting and should be considered for genetic counselling implications, particularly in those families in which autosomal dominant inheritance patterns or dental anomalies appear to be cosegregating with the clefting phenotype. PMID:12807959

  9. Double-layered reconstruction of the nasal floor in complete cleft deformity of the primary palate using superfluous lip tissue.

    PubMed

    Park, Young-Wook; Kwon, Kwang-Jun; Kim, Min-Keun

    2015-12-01

    After cleft lip repair, many patients suffer from nasolabial fistulas, asymmetrical nasal floor, or an indistinct nostril sill, as well as intraoral wound dehiscence and subsequent scar contracture of surgical wounds leading to vestibular stenosis. For successful primary nasolabial repair of complete cleft deformity of the primary palate, cleft surgeons need special care in reconstructing the sound nasal floor. Especially when the cleft gap is wide or when any type of nasoalveolar molding therapy was not performed, three-dimensional reconstruction of the nasal floor is critical for a balanced nasal shape. In this study, the author describes an effective method for reconstructing a double-layered nasal floor using two mucosal flaps from both sides of the fissured upper lip. This is a report of six patients with unilateral or bilateral complete cleft of the primary palate with a detailed description of the surgical technique and a literature review.

  10. Cleft size at the time of palate repair in complete unilateral cleft lip and palate as an indicator of maxillary growth.

    PubMed

    Liao, Y-F; Prasad, N K K; Chiu, Y-T; Yun, C; Chen, P K-T

    2010-10-01

    Cleft size at the time of palate repair might affect the difficulty of surgical repair and, thus, indirectly postoperative maxillary growth. This retrospective study aimed to determine whether a correlation existed between the cleft size at the time of palate repair and the growth of the maxilla. Maxillary dental casts of 39 infants with non-syndromic complete unilateral cleft lip and palate, taken at the time of palate repair, were used to measure cleft size. Cleft size was defined as the percentage of the total palatal area. The later growth of the maxilla was determined using lateral and postero-anterior cephalometric radiographs taken at 9 years of age. The Pearson correlation analysis was used for statistical analysis. The results showed negative correlations between cleft size and the maxillary length (PMP-ANS, PMP-A) and the maxillary protrusion (S-N-ANS, SNA). These data suggest that in patients with complete unilateral cleft lip and palate there is a significant correlation between the cleft size at the time of palate repair and the maxillary length and protrusion. Patients with a large cleft at the time of palate repair have a shorter and more retrusive maxilla than those with a small cleft by the age of 9 years.

  11. Adult patients with treated complete cleft lip and palate. Methodological and clinical studies.

    PubMed

    Marcusson, A

    2001-01-01

    The purpose of the present thesis was to investigate the quality of life, satisfaction with treatment, prevalence of temporomandibular disorders, psychosocial distress, and occlusal stability in a treated group of adults with complete cleft lip and palate (CLP). Sixty-eight adults (44 men and 24 women) with a mean age of 24.2 years (range 19.5-29.2) with treated CLP were compared with a gender- and age-matched group with no clefts. The CLP subjects were born between 1968 and 1977 and had undergone standardised plastic surgery at the Department of Plastic Surgery, University Hospital, Linköping, Sweden. Logopaedic, phoniatric, otological, and orthodontic examinations and treatment had been provided locally, supervised by the Cleft Plate Team. The subjects answered a multidimensional, self-report, standardised questionnaire regarding psychological and somatic conditions. The subjects underwent a clinical TMD examination and an evaluation of the occlusion. The reliability of the multidimensional questionnaire was analysed for the CLP group by a test-retest study within a 2-3 week interval and most questions showed an overall good reliability. A panel of professionals judged the outcome of the surgical treatment on colour slides of the CLP subjects. The dental plaster casts of 39 subjects born with complete unilateral cleft lip and palate (UCLP) were analysed (mean age 24.7 years, range 20.2-29.3) and compared with the dental plaster casts taken at mean age of 19.1 years (range 16.0-20.6). The overall level of quality of life was rather high in both groups. The CLP group rated some detached aspects, such as life meaning, family life, and private economy, significantly lower than did the group without clefts. Overall aspects such as well-being and social life were affected by having a treated cleft but not the more practical and tangible aspects of their daily living. There was an overall high level of satisfaction with all the different part of the body in both groups

  12. Bilateral cleft lip.

    PubMed

    Mulliken, John B

    2004-04-01

    The surgeon's objectives are normal nasolabial appearance and normal speech. The principles for synchronous repair of bilateral cleft lip have been established, and the techniques continue to evolve. Primary repair impairs maxillary growth, but little can be done at this time except to practice gentle craftsmanship and to minimize tension on the lower labial closure. The cutaneous lip should never be reopened for revision, and the number of secondary procedures involving the nasal cartilages should be kept to a minimum. Many adolescents with repaired bilateral cleft lip need maxillary advancement to improve projection of the nasal tip, to protrude the upper lip, and to attain normal sagittal skeletal harmony. With expected improvements in the technology of distraction osteogenesis, maxillary advancement may someday become as acceptable as orthodontic treatment.

  13. 3-D shape analysis of palatal surface in patients with unilateral complete cleft lip and palate.

    PubMed

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

    2014-07-01

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

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

    PubMed Central

    Ahuja, NK; Gahlawat, Subhash

    2011-01-01

    Objective The purpose of the modified repositioning appliance was to overcome the shortcoming of existing design for repositioning protruded premaxilla in a child with bilateral cleft lip and palate. Methods The basic principles of design were similar to Latham’s appliance but the surgical pinning of premaxillary segment was avoided and instead acrylic splint was prepared. Conclusions This technique avoids any invasive procedure, is useful to reposition protruded premaxillary segment in bilateral cleft lip and palate cases specifically in child who reports late with deciduous dentition. PMID:27672252

  15. Cleft Lip and Cleft Palate

    MedlinePlus

    ... can breast-feed, a cleft palate may make sucking difficult. Ear infections and hearing loss. Babies with cleft palate are especially at risk of developing middle ear fluid and hearing loss. Dental problems. If the cleft extends through the upper gum, ...

  16. Stabilization of premaxilla repositioned during secondary bone grafting in complete bilateral cleft lip and palate patients.

    PubMed

    Behnia, Hossein; Mesgarzadeh, Abolhasan; Tehranchi, Azita; Morad, Golnaz; Samieerad, Sahand; Younessian, Farnaz

    2014-07-01

    Secondary bone grafting simultaneous to premaxillary repositioning is a well-recognized surgical procedure for the management of bilateral cleft lip and palate patients. Proper stabilization of the repositioned premaxilla is considered as a key factor for the success of secondary bone grafting because the mobility of the premaxillary segment jeopardizes graft integration. This case series reports a reliable method of premaxillary stabilization that incorporated the intrasurgical application of resin bone cement to cover and reinforce the arch bars or orthodontic brackets applied on the maxillary teeth. Occlusal loads were reduced by application of posterior bite blocks on the mandibular teeth. The stabilization method was performed on 7 patients (5 women and 2 men) with a mean age of 12.4 years. During postsurgery follow-ups, the repositioned premaxillary segments did not show mobility in any of the patients. The palatal fistulae were completely closed. Panoramic radiographies taken 2 months after surgery demonstrated acceptable graft integration. The patients have now been followed up to 5 years. No evidence of relapse has been observed. This technique seemed to be undemanding, included minimal laboratory procedure, and maintained the labial mucosa overlying the repositioned segment intact.

  17. Comparative study of nasoalveolar molding methods: nasal elevator plus DynaCleft® versus NAM-Grayson in patients with complete unilateral cleft lip and palate.

    PubMed

    Monasterio, Luis; Ford, Alison; Gutiérrez, Carolina; Tastets, María Eugenia; García, Jacqueline

    2013-09-01

    Objective : To compare nasoalveolar molding (NAM) effect employing a nasal elevator plus DynaCleft® and NAM-Grayson system in patients with complete unilateral cleft lip and palate. Method : Prospective study in two groups. Group A included 20 consecutive patients treated with DynaCleft® and a nasal elevator before lip surgery. Group B included 20 patients treated with NAM-Grayson system. Maxillary casts and standard view photographs were done before and after treatment. Columella deviation angle, soft tissue distance of the cleft, intercommisural distance, and nostril height and width were traced and measured on the printed photos; a ratio was obtained and compared before and after treatment. Cleft width, anterior width, and anteroposterior distances were measured on the maxillary cast. Results : Group A began treatment at an average age of 14.3 days and group B at an average age of 16.9 days; no complications were observed. For group A, the initial average alveolar cleft within the cast was 10.7 mm, and after treatment it was 6.6 mm. For group B, pretreatment width was 11.2 mm, and after treatment it was 5.9 mm. No differences were found on the anterior and posterior width, and A-P distance of both groups. The initial mean columellar angle in group A was 38.1°, and after treatment it was 61.5°; for group B the initial mean columellar angle was 33.6°, and after treatment it was 59.5°. Results of Mann-Whitney U and Student's t tests showed no differences (P > .05). Width and height dimensions of the nostril showed minor differences. Conclusions : Both methods significantly reduced the cleft width and improved the nasal asymmetry. Our findings show that both methods produced similar results.

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

    ERIC Educational Resources Information Center

    Klein, Marsha Dunn

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

  19. Effects of lip repair on maxillofacial morphology in patients with unilateral cleft lip with or without cleft palate.

    PubMed

    Shao, Qinghua; Chen, Zhengxi; Yang, Yang; Chen, Zhenqi

    2014-11-01

    Objective : To evaluate the effects of lip repair on maxillofacial development of patients with unilateral cleft lip with or without cleft palate. Design : Retrospective. Patients : A total of 75 patients were recruited, including 38 surgical patients with complete unilateral cleft lip and alveolus and 37 patients with complete unilateral cleft lip and palate who had lip but not palate repair. As controls, 38 patients with no cleft were selected. All subjects were divided according to two growth stages: before the pubertal peak (GS1) and after the pubertal peak (GS2). Interventions : Lateral cephalograms of all subjects were obtained. Main Outcome Measures : Cephalograms were analyzed and compared in the study and control groups. Results : The patients with unilateral cleft lip and palate in both GS1 and GS2 demonstrated an almost normal maxillary and mandibular growth with retroclined maxillary incisors. The patients with unilateral cleft lip and palate showed a shorter length of maxilla, a more clockwise-rotated mandible, and retroclined maxillary incisors. Conclusions : There was an almost normal maxillary and mandibular growth but retroclined maxillary incisors in patients with cleft lip with or without cleft palate who had received lip repair only, indicating that lip repair may not have a negative impact on the maxillofacial development and influences only the inclination of the maxillary incisors. The shorter anterior-posterior maxillary length and larger gonial angle in patients with unilateral cleft lip and palate compared with those in patients with unilateral cleft lip and alveolus suggest that these variations in maxillary and mandibular growth may be a consequence of the cleft itself.

  20. Cleft Lip and Palate

    MedlinePlus

    ... that include feeding problems, middle ear fluid and hearing loss, dental problems, and speech problems. Feeding problems Have ... hearing problems Kids with cleft palate can have hearing loss . This may be caused by fluid building up ...

  1. Bilateral cleft lip nasal deformity

    PubMed Central

    Singh, Arun Kumar; Nandini, R.

    2009-01-01

    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 and also secondarily

  2. Palatal changes after lip surgery in different types of cleft lip and palate.

    PubMed

    Kramer, G J; Hoeksma, J B; Prahl-Andersen, B

    1994-09-01

    This study concerns palatal development during 6 months following primary lip closure. The sample consisted of 75 children with different forms of cleft lip and palate and 51 noncleft children. The palate was measured at 3 months of age, just before lip surgery, after surgery at 6 months, and again at 9 months of age. The results showed that lip closure has a strong effect in the anterior alveolar region. This effect was restricted to 3 months after surgery. The changes in complete clefts were more explicit than in incomplete cleft forms. Furthermore, the data showed that arch depth reduction due to lip surgery was compensated for by continued anteroposterior palatal growth. Early orthopedics appeared to prevent major palatal collapse immediately after lip surgery. Finally simultaneous closure of the alveolar cleft at the nasal side resulted in continued reduction of anterior cleft width.

  3. Cleft lip and palate repair - discharge

    MedlinePlus

    ... lip and palate Cleft lip and palate repair Review Date 5/9/2016 Updated by: David A. ... and reconstructive plastic surgery, Palm Beach Gardens, FL. Review provided by VeriMed Healthcare Network. Also reviewed by ...

  4. Speech outcomes of early palatal repair with or without intravelar veloplasty in children with complete unilateral cleft lip and palate.

    PubMed

    Doucet, Jean-Charles; Herlin, Christian; Captier, Guillaume; Baylon, Hélène; Verdeil, Mélanie; Bigorre, Michèle

    2013-12-01

    We compared the early speech outcomes of 40 consecutive children with complete unilateral cleft lip and palate (UCLP) who had been treated according to different 2-stage protocols: the Malek protocol (soft palate closure without intravelar veloplasty at 3 months; lip and hard palate repair at 6 months) (n=20), and the Talmant protocol (cheilorhinoplasty and soft palate repair with intravelar veloplasty at 6 months; hard palate closure at 18 months) (n=20). We compared the speech assessments obtained at a mean (SD) age of 3.3 (0.35) years after treatment by the same surgeon. The main outcome measures evaluated were acquisition and intelligibility of speech, velopharyngeal insufficiency, and incidence of complications. A delay in speech articulation of one year or more was seen more often in patients treated by the Malek protocol (11/20) than in those treated according to the Talmant protocol (3/20, p=0.019). Good intelligibility was noted in 15/20 in the Talmant group compared with 6/20 in the Malek group (p=0.010). Assessment with an aerophonoscope showed that nasal air emission was most pronounced in patients in the Malek group (p=0.007). Velopharyngeal insufficiency was present in 11/20 in the Malek group, and in 3/20 in the Talmant group (p=0.019). No patients in the Talmant group had an oronasal fistula (p<0.001). All other outcomes were similar. Despite later closure of the soft and hard palate, early speech outcomes were better in the Talmant group because intravelar veloplasty was successful and there were no fistulas after closure of the hard palate in 2 layers.

  5. The use of an inferior pennant flap during unilateral cleft lip repair improves lip height symmetry

    PubMed Central

    Russell, Aaron J.; Patel, Kamlesh B.; Skolnick, Gary B.; Woo, Albert S.

    2015-01-01

    Background In order to improve the rotation of Cupid’s bow and achieve sufficient vertical lip height, several variations of the Millard rotation-advancement have incorporated a small laterally-based triangular flap above the cutaneous roll. This study uses three-dimensional photogrammetry to evaluate the outcomes of unilateral cleft lip repairs performed with and without pennant flaps. Methods Three-dimensional photographs were analyzed to assess postoperative lip height asymmetry in 90 unilateral cleft lip patients (58 complete, 32 incomplete) treated between 2001 and 2012. Cleft lip repairs were performed by 3 pediatric cleft surgeons using different techniques. Thirty-nine of 90 (43%) procedures utilized an inferiorly placed triangular flap. All patients were photographed at least 9 months postoperatively (mean = 4.2 years). Lip height asymmetry was based on the vertical distances from the subnasale to the peaks of Cupid’s bow. Results Regression analysis revealed that the use of a pennant flap was a significant predictor of postoperative lip height asymmetry (B = 4.2%, p = 0.015). The surgeon performing the repair was also a significant factor in patients with complete cleft lips (B = 3.6%, p = 0.005). All three surgeons achieved greater lip height symmetry when a pennant flap was performed. Conclusions The results of unilateral cleft lip repairs are affected by both the surgeon and the surgical technique. Procedures that utilized a pennant flap showed better philtral height symmetry than non-pennant repairs. PMID:26505705

  6. Repair of bilateral cleft lip and its variants

    PubMed Central

    Mulliken, John B.

    2009-01-01

    The surgeon who lifts a scalpel to repair a bilateral cleft lip and nasal deformity is accountable for: 1) precise craftsmanship based on three-dimensional features and four-dimensional changes; 2) periodic assessment throughout the child's growth; and 3) technical modifications during primary closure based on knowledge gained from long-term follow-up evaluation. These children should not have to endure the stares prompted by nasolabial stigmata that result from outdated concepts and technical misadventures. The principles for repair of bilateral complete cleft lip have evolved to such a level that the child's appearance should be equivalent to, or surpass, that of a unilateral complete cleft lip. These same principles also apply to the repair of the variants of bilateral cleft lip, although strategies and execution differ slightly. PMID:19884685

  7. Ambulatory cleft lip surgery: A value analysis

    PubMed Central

    Arneja, Jugpal S; Mitton, Craig

    2013-01-01

    BACKGROUND: 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. OBJECTIVES: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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

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

    PubMed

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

    1988-07-01

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

  9. Early bone grafting in complete cleft lip and palate cases following maxillofacial orthopedics. II. The soft tissue development from seven to thirteen years of age.

    PubMed

    Larson, O; Nordin, K E; Nylén, B; Eklund, G

    1983-01-01

    The subsequent effect of preoperative maxillofacial orthopedics and early bone grafting on the development of the soft tissue profile of the face was studied with roentgencephalometric analysis on cleft patients between 7 and 13 years of age. They were divided into two unilateral and one bilateral complete-cleft group, all having been bone grafted early with the "four-flap" technique. The two unilateral groups were one group of 39 children operated on between 1960 and 1965 without preoperative orthopedics and one group of 46 children operated on between 1965 and 1972 after preoperative orthopedics ("T-traction"). The bilateral group comprised 19 children operated on between 1960 and 1972 after premaxillary retropositioning pressure, combined when necessary, with outward rotation of the lateral maxillary segments. Comparisons of facial growth were made with U.S. non-grafted clefts and with nonclefts. The effect of the preoperative orthopedic management facilitated the subsequent surgical procedure by a narrowing of the cleft and replacement of the deviated maxillary and nasal structures. The results were within limits of the non-grafted cases, with the exception of the soft tissue overlying the subnasal region. The reduced prominence of that region was explained by the primary surgical procedure, which made the lip adherent to the alveolar crest. In comparison with nonclefts, all parameters indicated a reduced growth capacity.

  10. Surgical correction of cleft lip and palate.

    PubMed

    Jayaram, Rahul; Huppa, Christoph

    2012-01-01

    Surgical cleft repair aims to restore function of the oro-nasal sphincter and oro-nasal soft tissues and re-establish the complex relationship between perioral and perinasal muscle rings without compromising subsequent mid-facial growth and development. Here we review the surgical anatomy of this region, optimal timing for surgical repair and current thinking on the use of surgical adjuncts. In addition, an overview of current surgical techniques available for the repair of cleft lip, cleft palate and velopharyngeal insufficiency is presented. Finally, we briefly discuss nasal revision surgery and the use of osteotomy, including distraction osteogenesis in the cleft patient.

  11. [Cleft lip and palate--problematic cleft speech].

    PubMed

    Hortis-Dzierzbicka, M A

    1999-01-01

    The early restoration of facial and palatal morphology in patients with cleft of lip and/or palate provides the anatomical base for good speech outcome. The author gives the up todate overview of the main problems concerning cleft speech, such as velopalatal insufficiency and typical articulation errors. The article describes the modern methods for the evaluation of VPI and current trends in treatment modalities for VPI.

  12. The principle of rotation advancement for repair of unilateral complete cleft lip and nasal deformity: technical variations and analysis of results.

    PubMed

    Mulliken, J B; Martínez-Pérez, D

    1999-10-01

    This is an assessment of one surgeon's 15-year experience (1981-1995) using the Millard rotation-advancement principle for repair of unilateral complete cleft lip and nasal deformity. All infants underwent a prior labio-nasal adhesion. Since 1991, dentofacial orthopedics with a pin-retained (Latham) appliance was used for infants with a cleft of the lip and palate. Technical variations are described, including modifications in sequence of closure. A high rotation and releasing incision in the columella lengthens the medial labial element and produces a symmetric prolabium with minimal transgression of the upper philtral column by the advancement flap. Orbicularis oris muscle is everted, from caudad to cephalad, to form the philtral ridge. A minor variation of unilimb Z-plasty is used to level the cleft side of Cupid's bow handle, and cutaneous closure proceeds superiorly from this junction. The dislocated alar cartilage is visualized though a nostril rim incision and suspended to the ipsilateral upper lateral cartilage. Symmetry of the alar base is addressed in three dimensions, including maneuvers to position the deviated anterior-caudal septum, configure the sill, and efface the lateral vestibular web. Secondary procedures were analyzed in 105 consecutive patients, both revised (n = 30) and unrevised (n = .75). The possible need for revision in the latter group was determined by panel assessment of six indicators of nasolabial asymmetry, documented by frontal and submental photographs. In the entire study period, a total of 80 percent of children required or will need nasal revision, and a total of 42 percent required or will require labial revision. In the last 5 years, as compared with the earlier decade, there was a significantly diminished incidence of patients requiring labial revision (54 percent to 21 percent) and alar suspension (63 percent to 32 percent). These improvements are attributable to technical refinements and experience, although dentofacial

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

    PubMed

    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.

  14. Cleft lip and palate care in Romania.

    PubMed

    Martin, Vanessa

    2011-11-01

    Vanessa Martin travelled with a surgical team to Romania over a period of 12 years to support nurses and improve practice in the treatment of cleft lip and palate. She recounts her experiences and the changes that took place during that time.

  15. Cleft Lip – A Comprehensive Review

    PubMed Central

    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 are discussed. The primary goals of surgical repair are to restore normal function, speech development, and facial esthetics. Different techniques are employed based on surgeon expertise and the unique patient presentations. Pre-surgical orthopedics are frequently employed prior to definitive repair to improve outcomes. Long term follow up and quality of life studies are discussed. PMID:24400297

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

    PubMed

    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.

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

    PubMed Central

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

    2016-01-01

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

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

    ERIC Educational Resources Information Center

    McDonald, Eugene T.; Berlin, Asa J.

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

  19. Prevalence at birth of cleft lip with or without cleft palate: data from the International Perinatal Database of Typical Oral Clefts (IPDTOC).

    PubMed

    2011-01-01

    As part of a collaborative project on the epidemiology of craniofacial anomalies, funded by the National Institutes for Dental and Craniofacial Research and channeled through the Human Genetics Programme of the World Health Organization, the International Perinatal Database of Typical Orofacial Clefts (IPDTOC) was established in 2003. IPDTOC is collecting case-by-case information on cleft lip with or without cleft palate and on cleft palate alone from birth defects registries contributing to at least one of three collaborative organizations: European Surveillance Systems of Congenital Anomalies (EUROCAT) in Europe, National Birth Defects Prevention Network (NBDPN) in the United States, and International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) worldwide. Analysis of the collected information is performed centrally at the ICBDSR Centre in Rome, Italy, to maximize the comparability of results. The present paper, the first of a series, reports data on the prevalence of cleft lip with or without cleft palate from 54 registries in 30 countries over at least 1 complete year during the period 2000 to 2005. Thus, the denominator comprises more than 7.5 million births. A total of 7704 cases of cleft lip with or without cleft palate (7141 livebirths, 237 stillbirths, 301 terminations of pregnancy, and 25 with pregnancy outcome unknown) were available. The overall prevalence of cleft lip with or without cleft palate was 9.92 per 10,000. The prevalence of cleft lip was 3.28 per 10,000, and that of cleft lip and palate was 6.64 per 10,000. There were 5918 cases (76.8%) that were isolated, 1224 (15.9%) had malformations in other systems, and 562 (7.3%) occurred as part of recognized syndromes. Cases with greater dysmorphological severity of cleft lip with or without cleft palate were more likely to include malformations of other systems.

  20. Algorithms for the treatment of cleft lip and palate.

    PubMed

    Stal, S; Klebuc, M; Taylor, T D; Spira, M; Edwards, M

    1998-10-01

    Developing standardized outcomes and algorithms of treatment is a constantly evolving task. This article examines four variables in this process: cleft type, operative technique, surgical experience, and timing. Input from international cleft lip and palate programs regarding techniques and treatment modalities provide a dynamic tool for assessment and the development of guidelines in the treatment of the cleft lip and palate patient.

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

    PubMed Central

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

    2016-01-01

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

  2. Simultaneous premaxillary repositioning and cheiloplasty in adult patients with unrepaired bilateral cleft lip and palate.

    PubMed

    Lee, Ui-Lyong; Cho, Jun-Bum; Choung, Pill-Hoon

    2013-03-01

    Primary cheiloplasty in adult patients with unrepaired complete bilateral cleft lip and palate is quite challenging due to severe premaxillary anterior projection. To get the best repair results, the author carried out repositioning of the premaxilla and repair of the lip deformity in a single stage. Positive results for the primary lip repair and appropriate repositioning of the premaxilla were achieved. No avascular necrosis of the premaxilla was observed. Repositioning of the premaxilla and repair of the lip deformity in a single operation appears to be a reliable method for treating adult patients with previously unrepaired or poorly repaired bilateral cleft lip and palate.

  3. Dental arch relationship in children with complete unilateral cleft lip and palate following one-stage and three-stage surgical protocols.

    PubMed

    Fudalej, Piotr; Katsaros, Christos; Bongaarts, Catharina; Dudkiewicz, Zofia; Kuijpers-Jagtman, Anne Marie

    2011-08-01

    The objective of this study is to compare dental arch relationship following one-stage and three-stage surgical protocols of unilateral cleft lip and palate. Dental casts of 61 children (mean age, 11.2 years; SD, 1.7), consecutively treated in one center with one-stage closure of the complete cleft at 9.2 months (SD, 2.0), were compared with a sample of 97 patients (mean age, 8.7 years; SD, 0.9), consecutively treated with a three-stage protocol including delayed hard palate closure in another center. The dental casts were assigned random numbers to blind their origin. Four raters graded dental arch relationship and palatal morphology using the EUROCRAN index. The strength of agreement of rating was assessed with kappa statistics. Independent t tests were run to compare the EUROCRAN scores between one-stage and three-stage samples, and Fisher's exact tests were performed to evaluate differences of distribution of the EUROCRAN grades. The intra- and inter-rater agreement was moderate to very good. Dental arch relationship in the one-stage sample was less favorable than in three-stage group (mean scores, 2.58 and 1.97 for one-stage and three-stage samples, respectively; p < 0.000). Palatal morphology in the one-stage sample was more favorable than in the three-stage group (mean scores, 1.79 and 1.96 for one-stage and three-stage samples, respectively; p = 0.047). The dental arch relationship following one-stage repair was less favorable than the outcome of three-stage repair. The palatal morphology following one-stage repair, however, was more favorable than the outcome of three-stage repair.

  4. Transverse effect of Haas and Hyrax appliances on the upper dental arch in patients with unilateral complete cleft lip and palate: A comparative study

    PubMed Central

    Façanha, Anna Júlia de Oliveira; Lara, Tulio Silva; Garib, Daniela Gamba; da Silva Filho, Omar Gabriel

    2014-01-01

    Objective The aim of the present study was to evaluate the transverse effect of rapid maxillary expansion in patients with unilateral complete cleft lip and palate while comparing the Haas and Hyrax appliances. Methods The sample consisted of 48 patients divided into two groups: Group I - 25 patients treated with modified Haas appliance (mean age: 10 years 8 months); and Group II - 23 patients treated with Hyrax appliance (mean age: 10 years 6 months). Casts were taken during pre-expansion and after removal of the appliance at the end of the retention period. The models were scanned with the aid of the 3 Shape R700 3D scanner. Initial and final transverse distances were measured at cusp tips and cervical-palatal points of maxillary teeth by using the Ortho AnalyzerTM 3D software. Results The mean expansion obtained between cusp tips and cervical-palatal points for inter-canine width was 4.80 mm and 4.35 mm with the Haas appliance and 5.91 mm and 5.91 mm with the Hyrax appliance. As for first premolars or first deciduous molars, the values obtained were 6.46 mm and 5.90 mm in the Haas group and 7.11 mm and 6.65 mm in the Hyrax group. With regard to first molars, values were 6.11 mm and 5.24 mm in the Haas group and 7.55 mm and 6.31 mm in the Hyrax group. Conclusion Rapid maxillary expansion significantly increased the transverse dimensions of the upper dental arch in patients with cleft palate, with no significant differences between the Hass and Hyrax expanders. PMID:24945513

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

    ERIC Educational Resources Information Center

    Apel, Laura

    2008-01-01

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

  6. Three-dimensional digital evaluation of dental arches in infants with cleft lip and/or palate.

    PubMed

    Fernandes, Viviane Mendes; Jorge, Paula Karine; Carrara, Cleide Felício Carvalho; Gomide, Márcia Ribeiro; Machado, Maria Aparecida Andrade Moreira; Oliveira, Thais Marchini

    2015-01-01

    The aim of this study was to measure and compare the dimensions of the dental arches on three-dimensional digital study models in children with and without cleft lip and palate before the primary surgery. The sample consisted of 223 digital models of children aged 3-9 months, divided into 5 groups: without craniofacial deformities, unilateral and bilateral incomplete cleft lip and alveolus, unilateral and bilateral complete cleft lip and alveolus, unilateral cleft lip and palate, and bilateral cleft lip and palate. Dental casts of the maxillary dental arches of the children were used. The dental casts underwent a process of scanning through 3D scanner and the measurements used for the correlation among groups were made on the scanned images. Statistical analysis was performed by t test and ANOVA followed by Tukey test. The results showed that the intercanine distance and anterior cleft width was wider in children with unilateral cleft lip and palate. The intertuberosity distances and posterior cleft width was wider in children with bilateral cleft lip and palate among the groups. Children with cleft lip and palate before the primary surgery had wider maxillary arch dimensions than the children without cleft lip and palate.

  7. Cleft Lip and Palate Surgery

    MedlinePlus

    ... and “type and cross” to check your child’s blood type) • Take a complete medical history of your child • Do a complete physical examination of your child Always tell your child’s ... hard for your child’s blood to clot. Ask your child’s doctor or OMS ...

  8. Cleft lip and palate repair

    MedlinePlus

    ... and "type and cross" to check your child's blood type) Take a complete medical history of your child Do a complete physical exam of your child Always tell your ... for your child's blood to clot. Ask which drugs the child should ...

  9. Secondary Cleft Lip Reconstruction and the Use of Pedicled, Deepithelialized Scar Tissue

    PubMed Central

    Nadjmi, Nasser; Amadori, Sara; Van de Casteele, Elke

    2016-01-01

    Background: The optimal time to create symmetry in a cleft lip is during primary repair; a secondary effort later is more difficult due to potential scarring and possible tissue deficiency of the repaired cleft lip. A plethora of methods for secondary correction have been described that have the goal of constructing the philtral column, ameliorating bad scar results, and augmenting lip volume, for example. Nevertheless, there is no single procedure that yields completely satisfactory results. In addition, the appropriate timing for secondary surgical corrections of the cleft lip is still under debate. Methods: We present a new technique for secondary lip reconstruction of unilateral and bilateral cleft patients using pedicled, de-epithelialized cleft scar tissue as an autologous graft to obtain sustainable lip volume. Our results were evaluated by physicians and patient-parent satisfaction surveys. Results: The esthetic outcomes of 29 patients were assessed using a patient satisfaction questionnaire and a physician survey based on the preoperative and postoperative clinical images. The success of the procedure was evaluated using a 5-point scale. The total scores of both the physician and patient assessments were high, although no correlation was found between the scores. Conclusions: Cleft lip reconstruction using pedicled, deepithelialized scar tissue leads to excellent physician and patient satisfaction scores; this technique can be executed at any patient age and as a secondary repair for any given primary type of cleft disorder. PMID:27826467

  10. A 20-year experience in unilateral cleft lip repair: From Millard to the triple unilimb Z-plasty technique

    PubMed Central

    Rossell-Perry, Percy

    2016-01-01

    Background: This study describes a 20-year experience of treating patients with unilateral cleft lip. During this time, various techniques were used including Millard's technique and its modification and two types of geometrically designed procedures. The study objective was to compare surgical outcomes of different surgical techniques for unilateral cleft lip repair. Materials and Methods: This is a retrospective audit of outcomes after unilateral cleft lip repair performed by a single surgeon since 1995. Of the 827 patients who underwent surgery, 277 met the criterion of having anthropometric measurements performed ≥1 year postoperatively. The patients were stratified into three groups according to cleft severity: incomplete, complete with less deficiency (3–6 mm difference between cleft and non-cleft lip height) and complete with more deficiency (>6 mm difference between cleft and non-cleft lip height). Anthropometric measurements, scar assessment and complications were recorded. Results: There were no differences in outcomes between Millard and Reichert-Millard techniques for incomplete unilateral cleft lip. For complete unilateral cleft lip and less tissue deficiency, lip symmetry was better using upper rotation advancement plus double unilimb Z-plasty than the Reichert-Millard technique. For complete unilateral cleft lip and more tissue deficiency, lip symmetry was better after triple unilimb Z-plasty than after upper rotation advancement plus double unilimb Z-plasty. Conclusions: We presented a 20-year experience performing unilateral cleft lip repair. An individualised classification system with corresponding surgical techniques was successfully used during this period. The individualised surgical protocol used in this study allowed us to achieve improved surgical outcomes. PMID:28216814

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

    PubMed

    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.

  12. Usefulness of Microfat Grafting in Patients With Repaired Cleft Lip.

    PubMed

    Bae, Yong Chan; Park, Tae Seo; Kang, Gyu Bin; Nam, Su Bong; Bae, Seong Hwan

    2016-10-01

    In many patients, the volume of the upper lip is deficient after cleft lip repair operation. However, there is no well-established procedure to correct this volume deficiency. In the present study, the authors attempted to increase the overall three-dimensional volume of the upper lip in repaired cleft lip patients with upper lip volume deficiency through autogenous microfat grafting. Thirty patients with upper lip volume deficiency after cleft lip repair underwent fat grafting in the upper lip from November 2007 to March 2015. Among these patients, postoperative outcome was evaluated in 15 patients using 2 methods for the evaluation. One method involved measuring the change in the shape of lips using pre- and postoperative photographs, and the other involved investigating the levels of satisfaction with the surgical results by distributing a scoring questionnaire to patients, doctors, and the general public. The ratio of upper lip protrusion relative to the lower lip increased by 46.71% on average after operation, and the sum of the vermilion heights increased by 31.68% on average. In the survey of satisfaction levels, patients, plastic surgeons, and the general public gave mean scores of 3.80, 3.91, and 4.03, respectively. When volume deficiency of the upper lip is present in repaired cleft lip patients, correction using autogenous microfat grafting is believed to be effective.

  13. Orthognathic surgery in the cleft lip and palate patient.

    PubMed

    Herber, S C; Lehman, J A

    1993-10-01

    Orthognathic surgery for the cleft lip and palate patient should be designed to achieve good facial aesthetics and a stable, functional occlusion. Maxillary and mandibular osteotomies, which benefit cleft lip and palate patients with associated dentofacial deformities, should be modified to meet the needs of the individual patient. Soft-tissue correction of the upper lip and nose adds to the overall aesthetic result, but should be performed as a separate procedure.

  14. Unfavourable results in the repair of the cleft lip

    PubMed Central

    Narayanan, Puthucode V.; Adenwalla, Hirji Sorab

    2013-01-01

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

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

    PubMed

    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.

  16. Presurgical nasal moulding in a neonate with cleft lip

    PubMed Central

    Deshpande, Anshula; Shah, Dixit; Macwan, Chirag S

    2014-01-01

    The concept of presurgical nasoalveolar moulding (PNM) was developed to improve the aesthetic result of surgically corrected cleft lip. This paper presents the method of fabrication of PNM appliance and the case of a 30-day-old neonate with unilateral cleft lip in whom nasal moulding was performed. Treatment was initiated at 30 days and continued for 60 days after which the surgical correction of cleft lip was performed. Significant improvement in aesthetics and symmetry of the nose was achieved at the end of the treatment. PMID:24928928

  17. Repair of complete bilateral cleft lip with severely protruding premaxilla performing a premaxillary setback and vomerine ostectomy in one stage surgery

    PubMed Central

    Sanchez-Sanchez, Marta; Iglesias-Martin, Fernando; Garcia-Perla-Garcia, Alberto; Belmonte-Caro, Rodolfo; Gonzalez-Perez, Luis-Miguel

    2015-01-01

    a single-stage surgery, a good primary lip repair at our center. Further confirmations of this surgery with follow up and anthropometric studies of these patients during childhood and adolescence are required. Key words: Protruding premaxilla, bilateral cleft lip, vomerine ostectomy, one stage surgery, Millard II technique. PMID:26034932

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

    PubMed

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

    2002-01-01

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

  19. Cleft lip and palate surgery: 30 years follow-up

    PubMed Central

    Guerrero, Cesar A.

    2012-01-01

    Ten cleft lip and palate patients with complete unilateral (five patients) and bilateral (five patients) clefts were treated by a multidisciplinary team integrated by psychologists, surgeons, orthodontists, prosthodontists, pediatric dentists, and speech pathologists, to obtain ideal soft tissue and hard tissue continuity, facial symmetry, functional and esthetic dentitions, excellent nasal architecture, subtle, and hidden lip scars. No hypernasality and adequate social adaptation were found in the 30 years follow-up (20-30 years follow-up with an average of 25.5 years). The patients were treated in a pro-active fashion avoiding complications and related problems, executing the ideal surgical, dental, and speech therapy plan, based on a close follow-up over the entire period. Those patients treated at the right time required less surgeries and less salvaging maneuvers and presented complete dentitions with less dental prosthesis or dental implants and stable occlusions, than those who missed the ideal dental and surgical treatment opportunities. The focus of this article is the need of a close long-term follow-up to ensure an ideal patient's quality of life. PMID:23483117

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

    PubMed

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

    2015-01-01

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

  1. Ankyloglossia with cleft lip: A rare case report

    PubMed Central

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

    2015-01-01

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

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

    PubMed Central

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

    2016-01-01

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

  3. PREVALENCE OF CLEFT LIP AND PALATE IN GEORGIA.

    PubMed

    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% (p<0.01). Usually, cleft 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.

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

    PubMed

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

    2015-06-20

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

  5. ALOBAR HOLOPROSENCEPHALY, CLEFT LIP/PALATE, URORECTAL SEPTUM MALFORMATION SEQUENCE AND CONGENITAL PERINEAL HERNIA IN A FETUS.

    PubMed

    Girisha, K M; Nayak, S S; Shukla, A; Bhat, S K

    2015-01-01

    We report on a fetus with alobar holoprosencephaly, complete cleft lip and palate, urorectal septum malformation sequence and perineal hernia. To our knowledge this appears to be a novel fetal malformation syndrome.

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

    PubMed Central

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

    2012-01-01

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

  7. Use of octyl-2-cyanoacrylate in cleft lip repair.

    PubMed

    Magee, William P; Ajkay, Nicolas; Githae, Bernard; Rosenblum, Richard S

    2003-01-01

    Octyl-2-cyanoacrylate (Dermabond; Ethicon, Somerville, NJ) is a synthetic tissue adhesive recently approved for skin closure. This study was designed to assess its effectiveness for use in clefts lip repairs. Sixty-four patients with unilateral, bilateral, or midline cleft lip defects were repaired. The ages at repair ranged from 4 days to 19 months, with an average of 46.5 days. Follow-up ranged from 6 months to 3 years. No complications were found. Several advantages were observed: shorter operative time, formation of a protective barrier, simplified incision care, no need for suture removal, and improved scar outcome. This study supports octyl-2-cyanoacrylate as an alternative to skin sutures in primary cleft lip repair.

  8. Speech outcomes in 10-year-old children with complete unilateral cleft lip and palate after one-stage lip and palate repair in the first year of life.

    PubMed

    Hortis-Dzierzbicka, Maria; Radkowska, Elzbieta; Fudalej, Piotr S

    2012-02-01

    An evaluation of the results of one-stage repair of unilateral cleft lip and palate (UCLP) performed at the Institute of Mother and Child, Warsaw, Poland, has shown that the dentofacial outcomes are comparable with those of the best cleft centres. The aim of this study was to assess speech development after one-stage closure of UCLP. Twenty boys and eight girls at the mean age 9.6 years consecutively treated with one-stage closure of the cleft at the mean age of 8.8 (range, 6-13) months were included. The same surgeon performed palatal repair using a vomerplasty. The evaluated outcomes included (1) perceptual speech evaluations with assessment of hypernasality, audible nasal emissions (ANEs) and compensatory articulations, (2) evaluation of compensatory facial grimacing, (3) clinical intraoral evaluation and (4) videonasendoscopy when indicated. Our results demonstrated that 25 patients (89.3%) had normal nasal resonance. Severe hypernasality and compensatory articulation disorders caused by velopharyngeal insufficiency were assessed in one patient. In 13 patients (46.4%), oronasal fistulas were found. Two children (7%) with larger fistulas presented with mild hypernasality. In 11 cases (39.2%), fistula friction was heard at pronunciation of some anterior sounds. Ten children (35.7%) demonstrated compensatory facial grimacing, mostly inconsistent and mild, in the form of nasal valving. In conclusion, articulation development, velopharyngeal sphincter competence and incidence of compensatory articulations in our sample are satisfactory. However, only 54% of the present groups were rated as having entirely normal speech because of high incidences of anterior palatal fistulas, and mild but frequent fistula-related speech disturbances.

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

    PubMed Central

    de Ladeira, Pedro Ribeiro Soares; Alonso, Nivaldo

    2012-01-01

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

  10. Important aspects of oral lining in unilateral cleft lip repair.

    PubMed

    Baek, Rong-Min; Lee, Sang Woo

    2009-09-01

    To achieve an aesthetic lip in cleft lip repair, central fullness and slight eversion of the vermilion are necessary. If only cutaneous anthropometric length is considered, symmetry and good vermilion contour may be obtained, but a seemingly tightness of the lip can occur. To prevent this, it is necessary to obtain sufficient central mucosal tissue of the oral lining.The authors used 2 methods to obtain adequate tissue of the central area of the oral lining. First, the mucosa of the central area of the oral lining was supplemented using a medial mucosal flap, and the amount of superfluous tissue was minimized. Second, a relaxing incision was placed at the oral lining of the lateral flap, which was subsequently centrally advanced.A total of 389 patients with a unilateral cleft lip underwent surgery using these methods and achieved satisfactory results. Occasional cases of lateral vermilion bulging were encountered during long-term follow-up, but these were easily corrected by bulging excision.Consideration of the oral lining is essential in cleft lip repair. The authors were able to reconstruct an aesthetically pleasing lip with central fullness by obtaining an adequate amount of tissue in the central area of oral lining.

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

    ERIC Educational Resources Information Center

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

    2013-01-01

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

  12. [Median cleft of the upper lip. Apropos of 3 cases. The Association for the Study of Facial Clefts].

    PubMed

    Vanrenterghem, L; Joly, B; Podvin, A; Poupart; Bayart, M

    1993-01-01

    The authors report three cases of Median Cleft of the upper lip, a clinical entity really deserving the term of "hare lip", a very ancient denomination who dates back to the Tang Dynasty and unfairly used to describe the usual lateral clefts of the lip. The denominations of "true" and "false" median cleft lips recovering respectively such different embryopathic realities as clefts of the median element with varying degrees of vertical separation and as agenesis of the fronto-nasal process accompanied with cerebral anomalies are no more used now. Median clefts of the upper lip can be included in the "neurocristopathies" by less or more precocious dysneurulation of the fronto-nasal process creating anomalies from various single midline defects of the upper lip of our three cases, to associated midline defects like in the Median Cleft face syndrome (fronto-nasal dysplasia) described by De Myer and Sedano to holoprosencephaly (arhinencephaly), which are rarely associated.

  13. Candidate pathway based analysis for cleft lip with or without cleft palate.

    PubMed

    Zhang, Tian-Xiao; Beaty, Terri H; Ruczinski, Ingo

    2012-01-06

    The objective of this research was to identify potential biological pathways associated with non-syndromic cleft lip with or without cleft palate (NSCL/P), and to explore the potential biological mechanisms underlying these associated pathways on risk of NSCL/P. This project was based on the dataset of a previously published genome-wide association (GWA) study on NSCL/P (Beaty et al. 2010). Case-parent trios used here originated from an international consortium (The Gene, Environment Association Studies consortium, GENEVA) formed in 2007. A total of 5,742 individuals from 1,908 CL/P case-parents trios (1,591 complete trios and 317 incomplete trios where one parent was missing) were collected and genotyped using the Illumina Human610-Quad array. Candidate pathways were selected using a list of 356 genes that may be related to oral clefts. In total, 42 candidate pathways, which included 1,564 genes and 40,208 SNPs were tested. Using a pathway-based analysis approach proposed by Wang et al (2007), we conducted a permutation-based test to assess the statistical significance of the nominal p-values of 42 candidate pathways. The analysis revealed several pathways yielding nominally significant p-values. However, controlling for the family wise error rate, none of these pathways could retain statistical significance. Nominal p-values of these pathways were concentrated at the lower tail of the distribution, with more than expected low p-values. A permutation based test for examining this type of distribution pattern yielded an overall p-value of 0.029. Thus, while this pathway-based analysis did not yield a clear significant result for any particular pathway, we conclude that one or more of the genes and pathways considered here likely do play a role in oral clefting.

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

    PubMed Central

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

    2013-01-01

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

  15. Timing and sequence of primary tooth eruption in children with cleft lip and palate

    PubMed Central

    KOBAYASHI, Tatiana Yuriko; GOMIDE, Márcia Ribeiro; CARRARA, Cleide Felício de Carvalho

    2010-01-01

    Objective To determine the timing and sequence of eruption of primary teeth in children with complete bilateral cleft lip and palate. Material and Methods This cross-sectional study was conducted at the Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo, Bauru, SP, Brazil, with a sample of 395 children (128 girls and 267 boys) aged 0 to 48 months, with complete bilateral cleft lip and palate Results Children with complete bilateral clefts presented a higher mean age of eruption of all primary teeth for both arches and both genders, compared to children without clefts. This difference was statistically significant for all teeth, except for the maxillary first molar. Mean age of eruption of most teeth was lower for girls compared to boys. The greatest delay was found for the maxillary lateral incisor, which was the eighth tooth of children with clefts of both genders. Analyzing by gender, the maxillary lateral incisor was the eighth tooth to erupt in girls and the last in boys. Conclusion The results suggest an interference of the cleft on the timing and sequence of eruption of primary teeth. PMID:20856997

  16. Primary and revision cleft lip repairs using octyl-2-cyanoacrylate.

    PubMed

    Cooper, Joshua M; Paige, Keith T

    2006-03-01

    The purpose of our retrospective review is to examine our method and outcomes for the application of octyl-2-cyanoacrylate for the repair of primary and revision cleft lips in both pediatric and adult patients. Records and photographs were reviewed and analyzed for patient age, type of cleft, revision or primary repair, complications, length of follow-up, and aesthetic outcomes. Eighteen patients, both children and adults, who underwent cleft lip repairs using tissue adhesive performed by a single surgeon between 1999 and 2003 were included. Twelve patients underwent primary repair and 6 patients underwent revision repair. Repairs were performed using the Millard rotation advancement technique and the Mohler variant. The lateral advancement flap was kept long and redundant in its transverse dimension to create a pressure fit everting the skin edges with minimal sutures to set up the closure for application of the tissue adhesive. Seventeen of eighteen patients had excellent cosmetic outcomes. One patient had minor necrosis of the tip of the advancement flap. No allergic reactions, wound infections, or dehiscences occurred. The use of octyl-2-cyanoacrylate for the skin closure of primary and revision cleft lip repairs in both children and adults results in excellent cosmetic outcomes. Employing our pressure-fit technique for skin eversion prior to application of the tissue adhesive may be advantageous. The lack of suture removal in the pediatric population and decreased operative time are additional benefits.

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

    PubMed Central

    Metgud, Renuka; Kumar, Ajay; Bhat, Kishore

    2015-01-01

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

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

    PubMed

    Taware, C P; Kulkarni, S R

    1991-01-01

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

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

    ERIC Educational Resources Information Center

    Pecyna, Paula M.; And Others

    1987-01-01

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

  20. Predictors of poor dental arch relationship in young children with unilateral cleft lip and palate.

    PubMed

    Hsieh, Yuh-Jia; Liao, Yu-Fang; Shetty, Akshai

    2012-08-01

    The aim of this cross-sectional outcome study using retrospective data capture of treatment histories was to examine the characteristics of young children with unilateral cleft lip and palate who had poor dental arch relationship (i.e., Goslon 5). The study sample comprised 120 children born with nonsyndromic complete unilateral cleft lip and palate between 1995 and 2003, and were aged between 5.0 and 7.0 years (mean age, 5.1 years) at the time of data collection. The dental arch relationship was assessed using the Goslon yardstick from intraoral dental photographs. An independent investigator recorded treatment histories from the clinical notes. The inter- and intraexaminer agreements evaluated by weighted kappa statistics were high. There was no association between dental arch relationship and the type of presurgical orthopedics or pharyngeal flap. Dental arch relationship was associated with the initial cleft size (odds ratio, OR = 1.3; 95% confidence interval, CI = 1.1-1.5, p < 0.01), surgeon grade for palate repair (OR = 5.0, 95% CI = 1.2-19.9, p < 0.05), and primary gingivoperiosteoplasty (OR = 2.8, 95% CI = 1.0-8.1, p = 0.05). These data suggest that intraoral dental photographs provide a reliable method for rating dental arch relationship. Wide initial cleft, high-volume surgeon, and primary gingivoperiosteoplasty are predictors of poor dental arch relationship outcome in young children with unilateral cleft lip and palate. These findings may improve treatment outcome by modifying the treatment protocol for patients with unilateral cleft lip and palate.

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

    PubMed

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

    2015-03-01

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

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

    PubMed

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

    2015-01-01

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

  3. Tessier 30 facial cleft

    PubMed Central

    Bhattacharyya, Nirmal C.; Kalita, Kabita; Gogoi, Manoj; Deuri, Pradip K.

    2012-01-01

    A case of midline cleft of the lower lip with cleft of the mandible and complete duplication of the tongue is reported here. Median cleft of the lower lip, mandible and bifid tongue with ankyloglossia is reported in the literature, but complete duplication of the tongue as part of the Tessier 30 cleft is not yet reported. PMID:22529554

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

    PubMed

    Ma, Xiaoran; McPherson, Bradley; Ma, Lian

    2016-03-01

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

  5. Non-syndromic cleft lip and palate: could stress be a causal factor?

    PubMed

    Wallace, Graeme H; Arellano, Jacinta M; Gruner, Tini M

    2011-03-01

    The aetiology of non-syndromic cleft lip and palate has as yet not been clearly defined. Familial relationships, environmental toxins and nutritional status have all been considered without conclusive results, although in some studies a potential link between non-syndromic cleft lip and palate and any one or more of these factors has been proposed. Elevated stress, particularly an extended term of traumatic stress, can lead to oxidative damage at the cellular level via hypothalamus-pituitary-adrenal (HPA) axis dysregulation, high cortisol and cytokine production. The effect of this hormonal shift is to re-direct the blood supply to the mother's muscles, thereby reducing the supply to the placenta, causing a potential nutritional deficiency which may then result in a genetic alteration in the foetus. Mothers with a child aged two years or younger who had been born with a cleft, who were members of CleftPals, a family support group, volunteered to be participants in this qualitative study. The research first called for a survey to be completed by the mother and this was then followed by an interview conducted by the researcher. The study involved families living in the three eastern States of Australia. The results suggest that physical and/or emotional stress may well be implicated in clefting. While little work has been done in considering stress as a causal factor, the existing literature suggests, as does this study, that elevated stress levels at, or soon after, conception appear to affect foetal development.

  6. Moustache reconstruction in patients with cleft lip: (final aesthetic touches in clefts-part ii).

    PubMed

    Duskova, Marketa; Sosna, Bohuslav; Sukop, Andrej

    2006-09-01

    Men with clefts often have limited or even missing moustache growth in scar areas or in the upper lip prolabium. However the histological testing showed the absence or at least the inactive form of androgenic receptor in hair follicle of cleft site, transplantation of autologous grafts harvested from hair was successful in all six cases either into scars or the prolabium. A more natural effect was achieved by using micrografts. The positive reaction of patients proved there is a need for detailed treatment in highly outgoing individuals.

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

    ERIC Educational Resources Information Center

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

    2008-01-01

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

  8. Radiology of Cleft Lip and Palate: Imaging for the Prenatal Period and throughout Life.

    PubMed

    Abramson, Zachary R; Peacock, Zachary S; Cohen, Harris L; Choudhri, Asim F

    2015-01-01

    Recent advances in prenatal imaging have made possible the in utero diagnosis of cleft lip and palate and associated deformities. Postnatal diagnosis of cleft lip is made clinically, but imaging still plays a role in detection of associated abnormalities, surgical treatment planning, and screening for or surveillance of secondary deformities. This article describes the clinical entities of cleft lip with or without cleft palate (CLP) and isolated cleft palate and documents their prenatal and postnatal appearances at radiography, ultrasonography (US), magnetic resonance (MR) imaging, and computed tomography (CT). Imaging protocols and findings for prenatal screening, detection of associated anomalies, and evaluation of secondary deformities throughout life are described and illustrated. CLP and isolated cleft palate are distinct entities with shared radiologic appearances. Prenatal US and MR imaging can depict clefting of the lip or palate and associated anomalies. While two- and three-dimensional US often can depict cleft lip, visualization of cleft palate is more difficult, and repeat US or fetal MR imaging should be performed if cleft palate is suspected. Postnatal imaging can assist in identifying associated abnormalities and dentofacial deformities. Dentofacial sequelae of cleft lip and palate include missing and supernumerary teeth, oronasal fistulas, velopharyngeal insufficiency, hearing loss, maxillary growth restriction, and airway abnormalities. Secondary deformities can often be found incidentally at imaging performed for other purposes, but detection is necessary because they may have considerable implications for the patient.

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

    PubMed

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

    2015-09-01

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

  10. Embryonic rationale for the primary correction of classical congenital clefts of the lip and palate.

    PubMed Central

    Millard, D. R.

    1994-01-01

    Primary correction of congenital clefts of the lip and palate should be designed to carry the interrupted embryonic process to normal completion. This is best accomplished by maxillary alignment with presurgical orthodontics, stabilisation of the maxillary alignment, obliteration of the alveolar cleft and construction of the nasal floor with periosteoplasty. This allows early construction of the lip by rotation and advancement and correction of the nose with columella lengthening, alar cartilage positioning and alar base cinching. This can be accomplished before school age. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 Figure 10 Figure 11 Figure 12 Figure 13 Figure 14 Figure 15 Figure 16 Figure 17 Figure 18 Figure 19 Figure 20 PMID:8017808

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

    PubMed Central

    Marazita, Mary L.

    2013-01-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2015-03-01

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

  14. Frequency of homologous blood transfusion in patients undergoing cleft lip and palate surgery

    PubMed Central

    Adeyemo, Wasiu L.; Ogunlewe, Mobolanle O.; Desalu, Ibironke; Ladeinde, Akinola L.; Adeyemo, Titilope A.; Mofikoya, Bolaji O.; Hassan, Olakunle O.; Akanmu, Alani S.

    2010-01-01

    Aim: The study aims to determine the frequency of homologous blood transfusion in patientsundergoing cleft lip and palate surgery at the Lagos University Teaching Hospital, Nigeria. Setting and Design: A prospective study of transfusion rate in cleft surgery conducted at the Lagos University Teaching Hospital, Nigeria. Material and Methods: One hundred consecutive patients who required cleft lip and palate surgery were recruited into the study. Data collected included age, sex and weight of patients, type of cleft defects, type of surgery done, preoperative haematocrit, duration of surgery, amount of blood loss during surgery, the number of units of blood cross-matched and those used. Each patient was made to donate a unit of homologous blood prior to surgery. Results: There were 52 females and 48 males with a mean age of 64.4 ± 101.1 months (range, 3-420 months). The most common cleft defect was isolated cleft palate (45%) followed by unilateral cleft lip (28%). Cleft palate repair was the most common procedure (45%) followed by unilateral cleft lip repair (41%). The mean estimated blood loss was 95.8 ± 144.9 ml (range, 2-800ml). Ten (10%) patients (CL=2; CP=5, BCL=1; CLP=2) were transfused but only two of these were deemed appropriate based on percentage blood volume loss. The mean blood transfused was 131.5 ± 135.4ml (range, 35-500ml). Six (60%) of those transfused had a preoperative PCV of < 30%. Only 4.9% of patients who had unilateral cleft lip surgery were transfused as compared with 50% for CLP surgery, 11% for CP surgery, and 10% for bilateral cleft lip surgery. Conclusions: The frequency of blood transfusion in cleft lip and palate surgery was 10% with a cross-match: transfusion ratio of 10 and transfusion index of 0.1. A "type and screen" policy is advocated for cleft lip and palate surgery. PMID:20924451

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

    ERIC Educational Resources Information Center

    Kalland, Mirjam

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

  16. [Investigation of children with congenital cleft lip and palate by Eysenck personality questionnaire(Junior)

    PubMed

    Zhang, H Z; Hu, J F

    1998-12-01

    OBJECTIVE: To approach the personality of the children suffering from congenital cleft lip and palate. METHODS: The subject were 50 children (aged 7 to 17) with congenital cleft lip and palate,and 50 normal children as control.Both groups were investigated by Eysenck personality questionnaire EPQ(Junior). RESULTS: According to the general quantitative table of EPQ(Junior),the abnormal cases in cleft group were significantly more than those in control(P<0.005),and also were the abnormal cases in the single quantitative or in the multiple quantitative tables of EPQ(Junior)(P<0.005) respectively. CONCLUSION: The poor personality in children with cleft lip and palate is correlated to the cleft condition.Therefore it is necessary to pay attention to the prevention of poor personality while the cleft lip and palate is treated.

  17. Fordyce Happiness Program and Happiness in Mothers of Children with a Cleft Lip and Palate

    PubMed Central

    Hemati, Zeinab; Mosavi Asl, Fatemeh-Sadat; Abbasi, Samira; Ghazavi, Zohre; Kiani, Davood

    2016-01-01

    Introduction: Facial deformities and aesthetic and functional anomalies in children may be a cause of real distress in families. Problems faced by parents in coping with a child’s anomaly can be upsetting and lead parents to exhibit over-severe behavior. The present study was conducted in order to study the effect of happiness program on the happiness of the mothers of children with a cleft lip and palate. Materials and Methods: In this semi-experimental study, 64 mothers of children with a cleft lip and palate enrolled by convenience random sampling were assigned to an intervention or control group based on a simple random sampling. Then, a program of happiness training was implemented consisting of 10 sessions of 2 hours each. A demographic questionnaire and the Oxford Happiness Questionnaire were completed prior to and 2 months after the last session of intervention. The data were analyzed using descriptive and analytical statistics, consisting of a paired t-test, independent t-test and Chi-square test using SPSS version 20. Results: The independent t-test indicated a significant difference in mean happiness score after training between the intervention and control groups (P<0.05). Moreover, the paired t-test indicated a significant difference in mean happiness score between before and after training in the intervention group, although the difference was not statistically significant for the control group (P>0.05). Conclusion: In light of the efficacy of happiness training on the promotion of happiness in the mothers of children with a cleft lip and palate, this model is recommended as a healthcare intervention to decrease stress in mothers following the birth of an infant with a cleft lip and palate. PMID:28008390

  18. Repair of bilateral clefts of lip, alveolus and palate Part 1: A refined method for the lip-adhesion in bilateral cleft lip and palate patients.

    PubMed

    Bitter, Klaus

    2001-02-01

    The protruding premaxilla represents the most severe problem in the surgical closure of a bilateral cleft lip, alveolus and palate (BCLP). In principle there are two methods to overcome this obstacle: (1) preliminary lip adhesion and (2) presurgical repositioning with intraoral devices. According to the various degrees of premaxillary protrusion, sometimes adhesion alone is sufficient, if the surgical technique is unlikely to break down. In this paper a refined adhesion method is presented, withstanding traction to the wound margins and concomitantly enables lip and nose repairs in a single second operation. For patients with severe premaxillary protrusion, presurgical use of a Latham appliance achieves conditions for safe lip adhesion as above. Both treatment methods are outlined. Copyright 2001 European Association for Cranio-Maxillofacial Surgery.

  19. Repair of bilateral clefts of lip, alveolus and palate. Part 1: A refined method for the lip-adhesion in bilateral cleft lip and palate patients.

    PubMed

    Bitter, K

    2001-02-01

    The protruding premaxilla represents the most severe problem in the surgical closure of a bilateral cleft lip, alveolus and palate (BCLP). In principle there are two methods to overcome this obstacle: (1) preliminary lip adhesion and (2) presurgical repositioning with intraoral devices. According to the various degrees of premaxillary protrusion, sometimes adhesion alone is sufficient, if the surgical technique is unlikely to break down. In this paper a refined adhesion method is presented, withstanding traction to the wound margins and concomitantly enables lip and nose repairs in a single second operation. For patients with severe premaxillary protrusion, presurgical use of a Latham appliance achieves conditions for safe lip adhesion as above. Both treatment methods are outlined.

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

    ERIC Educational Resources Information Center

    Speltz, Matthew L.; And Others

    1997-01-01

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

  1. Presurgical orthopedic premaxillary alignment in cleft lip and palate reconstruction.

    PubMed

    Papay, F A; Morales, L; Motoki, D S; Yamashiro, D K

    1994-11-01

    Premaxillary malposition is a difficult problem in cleft lip and palate repair. Orthopedic palatal devices are excellent in positioning the premaxilla, though they are somewhat cumbersome and require complex techniques in adjusting precisely the position of the premaxilla prior to repair. A new technique has been developed for premaxillary repositioning in conjunction with palatal shelf expansion and obturation. The procedure implements microplate fixation anterior to the premaxillary segment and linked to a palatal splint by adjustable elastics. The microplate is inserted through a nasal floor incision and secured by a tight submucosal tunnel through minimal dissection between the prolabium and premaxilla. The last hole of each microplate protrudes through the mucosa and is attached to a pin-retained palatal splint by an elastic chain. Differential tension is applied to the chains to allow gradual repositioning of the protruding maxilla while the splint expands and maintains positioning of the lateral palatal segments. These elastic retractors can be adjusted by staff in the outpatient office. During the past 2 years, this technique has been used successfully in 21 consecutive patients with unilateral or bilateral cleft lip and palate. Its technical ease and design allows simple adjustments to control premaxillary positioning and growth before definitive surgical closure.

  2. Effects of lip revision surgery on long-term orosensory function in patients with cleft lip/palate.

    PubMed

    Essick, Greg; Phillips, Ceib; Chung, Yunro; Trotman, Carroll-Ann

    2013-09-01

    OBJECTIVE : To determine whether secondary lip revision surgery impacts sensitivity of the upper lip. DESIGN : A three-group, parallel, prospective, nonrandomized clinical trial. SETTING : University of North Carolina School of Dentistry. PATIENTS, PARTICIPANTS : Three groups: (1) patients with repaired cleft lip/palate who were scheduled for lip revision (revision; N = 20); (2) patients with repaired cleft lip/palate who did not receive a lip revision (non-revision; N = 13); and (3) non-cleft control subjects (non-cleft; N = 22). Interventions : Lip revision surgery. MAIN OUTCOME MEASURES : Measures of (1) two-point perception threshold (two-point), (2) warmth detection threshold (warm), and (3) cool detection threshold (cool) were obtained from two sites on the upper lip vermilion. The revision participants were tested approximately 1 week before surgery and then approximately 3 and 12 months after surgery. The non-revision and non-cleft participants were tested at similar times. RESULTS : There were no significant differences among the three groups at baseline for two-point, warm, or cool. The main effects of group, age, sex, and time were not statistically significant for the two-point or warm (p > .05). The mean differences between the 3- and 12-month follow-up visits and baseline for two-point and warm were small for all three groups. For cool, group was statistically significant (p = .04), the difference in the non-revision group between follow-up and baseline was 31% to 34% higher than in the non-cleft group (p = .01). CONCLUSIONS : Although at postsurgery revision participants exhibited threshold values comparable to presurgical values, the sensory differences observed among subgroups of participants with cleft lip are complex.

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

    PubMed Central

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

    2012-01-01

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

  4. Prevalence, pattern and perceptions of cleft lip and cleft palate among children born in two hospitals in Kisoro District, Uganda

    PubMed Central

    2014-01-01

    Background Cleft lip with or without cleft palate is one of the most common congenital anomalies that affect the oro-facial region. The aim of the study was to determine the period prevalence, pattern and perceptions of cleft lip and cleft palate in children born between 2005 and 2010 in two hospitals in Kisoro District, Uganda. Methods The study involved a retrospective review of medical records of mothers who delivered live babies between January 2005 and December 2010 in Kisoro Hospital and St. Francis Hospital, Mutolere in Kisoro District. Key informant interviews of mothers (n = 20) of the children with cleft lip and/or clip palate and selected medical staff (n = 24) of the two hospitals were carried out. The data were analysed using descriptive statistics. Results Over the 6 year period, 25,985 mothers delivered live babies in Kisoro Hospital (n = 13,199) and St. Francis Hospital, Mutolere (n = 12,786) with 20 babies having oro-facial clefts. The overall period prevalence of the clefts was 0.77/1,000 live births. Sixty percent (n = 12) of children had combined cleft lip and palate and the same proportion had clefts on the left side of the face. More boys were affected than girls: 13 versus 7. About 45% of mothers were hurt on realizing that they had delivered a child with an oro-facial cleft. Forty percent of mothers indicated that a child with oro-facial cleft was regarded as an outcast. About 91.7% (n = 22) of the medical staff reported that these children were not accepted in their communities. Surgical intervention and psychosocial support were the management modalities advocated for by most respondents. Conclusion/recommendations The period prevalence of combined cleft lip and palate in two hospitals in Kisoro District was comparable to some findings elsewhere. Cleft lip and cleft palate are a medical and psychosocial problem in Kisoro District that calls for sensitization and counseling of the families and communities of the affected children

  5. Deficient and delayed primary palatal fusion and mesenchymal bridge formation in cleft lip-liable strains of mice.

    PubMed

    Wang, K Y; Juriloff, D M; Diewert, V M

    1995-01-01

    During mammalian primary palate formation, the facial prominences enlarge around the nasal pit, fuse and then merge to give rise to the tissue of the upper lip and premaxillary region. The mechanisms involved in successful primary palate formation and how they are affected in the cleft lip genotype remain poorly understood. The purpose of this study was to compare morphometrically internal development and growth of the primary palate in five different strains of mice. Two of the strains, BALB/cByJ, and C57BL/6J, have normal primary palate development, and three of the strains, A/J, A/WySn, and CL/Fr, have stable frequencies of cleft lip associated with genotype. In the present study, frequencies of 4, 23, and 24%, respectively, were observed on day 13. For palatal growth analysis, embryos were collected on days 10 and 11, staged by number of tail somites (TS), and the heads were photographed and serially sectioned for measurement of primary palate components. The heights of the epithelial seam and the mesenchyme bridge between the facial prominences were measured on serial sections and areas of contact were calculated. The position or depth of the maxillary prominence was determined from the number of frontal sections from its tip to the rostral end of the nasal fin. Analysis of measurements showed that in cleft lip strains enlargement of the epithelial seam and replacement of epithelia by a mesenchymal bridge were both delayed relative to somite stages. Measurements from day 11 embryos with complete failure of contact were excluded from the growth analyses. The mesenchymal bridge formed at 12--13 TS in noncleft strains, 14 TS in the A/J strains with higher cleft lip frequency, and 15--17 TS in A/WySn and CL/Fr strains with higher cleft lip frequency. Forward growth of the maxillary prominence was highly correlated with the primary palate measurements and mesenchymal bridge formation in all strains. In both cleft and noncleft strains, the primitive choanae open at

  6. Premaxillary Repositioning in the Severe Form of Bilateral Cleft Lip and Palate.

    PubMed

    Koh, Kyung S; Han, Woo Yeon; Jeong, Woo Shik; Oh, Tae Suk; Kwon, Sun Man; Choi, Jong Woo

    2016-09-01

    Severe forms of bilateral cleft lip and palate remain a challenging issue. Although nasoalveolar molding dramatically improves overall treatment success, the position of the premaxilla often remains dislocated. The authors attempted to relocate the malpositioned premaxilla into the correct position to obtain the correct three-dimensional (3D) maxillary arch structure and growth. Eight patients with severe bilateral cleft lip and palate were treated with premaxillary osteotomy for premaxilla repositioning. The position of the premaxilla was measured directly using cephalometry. Two raters including orthodontists evaluated the 3D (anteroposterior, transverse, and sagittal) outcomes. Regarding the long-term effects of premaxillary repositioning on midfacial growth, 3D computed tomography scan data were used, including the measurement of the SNA, SNB, and ANB angles according to the time period (T0: preoperative; T1: immediate postoperative; T2: long-term postoperative). All bilateral cleft lips and palates were satisfactorily repaired without any complications, including any premaxillary vascular compromise, nonunion, and occlusal instability. The average visual analog scale scores (0-5) of the anteroposterior, vertical, and transverse dimensions were 3.9, 3.7, and 3.2, respectively. Regarding the effect of premaxillary repositioning on midfacial hypoplasia, the change in the ANB between T1 and T2 was not significant, implying that premaxillary repositioning did not affect the long-term harmony between the maxilla and mandible (ANB of T2-T1: P = 0.1016) based on interim growth data at the time of follow-up and study completion. Premaxillary repositioning effectively corrected the malpositioned premaxilla and repaired the accompanying wide alveolar cleft, achieving successful restoration of maxillary arch coordination. In addition, premaxillary osteotomy after 8 years of age does not seem to cause significant maxillary retrusion.

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

    PubMed

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

    2014-05-01

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

  8. Rehabilitation of a One-day-Old Neonate with Cleft Lip and Palate using Palatal Obturator: A Case Report

    PubMed Central

    Kumar Pathak, Ashish; Bhatia, Baldev; Gupta, Sailesh; Kumar Gautam, Keshav

    2012-01-01

    ABSTRACT Feeding a neonate with a complete cleft lip and palate is difficult pursuit due to communication between oral cavity and nasal cavity. A multidisciplinary approach is required to manage the complex problems involved in case of such neonates and their families. Present case is of a 1-day-old neonate having complete bilateral cleft lip and palate for which palatal obturator was constructed. A stepwise simple, easy and uncomplicated procedure for making accurate impressions, maxillary cast and fabrication of palatal obturator in infants with cleft lip and palate has been presented. The objective to present this case report is to emphasize the fact that how these palatal obturators /plates help in feeding, speech/language development, presurgical orthopedics and prevent other associated otorhinolaryngeal problems. How to cite this article: Bansal R, Pathak AK, Bhatia B, Gupta S, Gautam KK. Rehabilitation of a One-day Old Neonate with Cleft Lip and Palate using Palatal Obturator: A Case Report. Int J Clin Pediatr Dent 2012;5(2):145-147. PMID:25206156

  9. 20 years of cleft lip and palate missions.

    PubMed

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

    2014-01-01

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

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

    PubMed

    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.

  11. Preparation of feeding obturators for infants with cleft lip and palate.

    PubMed

    Osuji, O O

    1995-01-01

    Clefts of the lip and palate are the commonest congenital craniofacial malformations in children. Sucking is impaired in infants born with complete clefts of the lip and palate. Feeding obturators improve feeding thereby contributing to weight gain and a thriving state of health, a prerequisite for surgical repair of the defects. A pediatric dentist may be required to fabricate the obturator. A method for constructing the appliance is presented. The severity of the clefts varies so much that stock trays are not always useful for the impression of the infant's maxillary arch. A preliminary impression is taken by introducing a thermoplastic impression material with the index and middle fingers as the tray. A model is produced from which a custom tray is constructed. The final maxillary impression is taken using an irreversible hydrocolloid with the child in an upright position. An obturator is constructed on the stone model by sprinkling soft autopolymerizing acrylic resin on the palate extending well into the mucobuccal fold area. The cured appliance is trimmed and polished prior to insertion.

  12. [Nasal breath recovery and rhinoplasty in cleft lip and palate patient with unilateral choanal atresia].

    PubMed

    Chkadua, T Z; Ivanova, M D; Daminov, R O; Brusova, L A; Savvateeva, D M

    2016-01-01

    The paper presents the analysis of clinical case of endoscopic nasal breath restoration and elimination of the secondary cleft lip nasal deformity in 27 years old patient with unilateral choanal atresia and secondary nasal deformity after rhinocheiloplasty. Preoperative examination revealed the absence of nasal breathing on collateral side due to complete bone choanal atresia. Surgical treatment included endoscopic choanal repair, elimination of the secondary nasal deformity, septoplasty, conchotomy and lateroposition of the inferior conchae. The treatment resulted in nasal breath restoration and elimination of nasal deformity. Long-term follow-up at 1 and 12 months post-operatively proved stable positive aesthetic and functional results.

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

    ERIC Educational Resources Information Center

    Robinson, Geoffrey C.; And Others

    1973-01-01

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

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

    PubMed Central

    Goswami, Mridula; Bhushan, Urvashi

    2016-01-01

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

  15. Citation Characteristics of Research Articles under the Center of Cleft Lip-Cleft Palate and Craniofacial Deformities, Khon Kaen University.

    PubMed

    Thanapaisal, Soodjai; Thanapaisal, Chaiwit; Thanapaisal, Sukhumal

    2015-08-01

    Center of Cleft Lip-Cleft Palate and Craniofacial Deformities, Khon Kaen University, has cooperated with the Medical Association of Thailand in publishing the special five issues of JMT (Journal of the Medical Association of Thailand) during the years 2010-2014 in order to promote research activities and working network of related fields in cleft lip-cleft palate and craniofacial deformities. This study aimed to examine the features of 106 research articles in terms of authors and disciplines, and analyze the citations considering sources, country and years after publication. The scope of study also included citations in the form of journal, which was presented as journal ranking compared with impact factors and Bradford's Law on journal citation. The results of study will be useful in developing multidisciplinary research activities of the center and especially assist in the acquisition of academic journals for essential sources of reference.

  16. Impressions in cleft lip and palate--a novel two stage technique.

    PubMed

    Pani, Sharat Chandra; Hedge, Amitha M

    2008-01-01

    Though the field of presurgical orthopedics for the management of children with cleft Lip and Palate (CLAP) has made great advances over the past few decades, little is found in literature regarding the imressions required to fabricate these appliances. The purpose of this paper is to describe a novel two stage technique utilizing greenstick compound and addition silicone impression material to provide a safe, economical and accurate method for recording impressions in children with cleft lip and palate.

  17. Assessment of differentially expressed plasma microRNAs in nonsyndromic cleft palate and nonsyndromic cleft lip with cleft palate

    PubMed Central

    Li, Qian; Chen, Ling; Gao, Yanli; Yan, Hui; Zhou, Bei; Li, Jun

    2016-01-01

    Plasma microRNAs (miRNAs) have recently emerged as a new class of regulatory molecules that influence many biological functions. However, the expression profile of plasma microRNAs in nonsyndromic cleft palate (NSCP) or nonsyndromic cleft lip with cleft palate (NSCLP) remains poorly investigated. In this study, we used Agilent human miRNA microarray chips to monitor miRNA levels in three NSCP plasma samples (mixed as the CP group), three NSCLP plasma samples (mixed as the CLP group) and three normal plasma samples (mixed as the Control group). Six selected plasma miRNAs were validated in samples from an additional 16 CP, 33 CLP and 8 healthy children using qRT-PCR. Using Venn diagrams, distinct and overlapping dysregulated miRNAs were identified. Their respective target genes were further assessed using gene ontology and pathway analysis. The results show that distinct or overlapping biological processes and signalling pathways were involved in CP and CLP. Our study showed that the common key gene targets reflected functional relationships to the Notch, Wnt, phosphatidylinositol and Hedgehog signalling pathways. Further studies should examine the mechanism of the potential target genes, which may provide new avenues for future clinical prevention and therapy. PMID:27863433

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

    PubMed

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

    2015-01-01

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

  19. Triangular with Ala nasi (TAN) repair of unilateral cleft lips: a personal technique and early outcomes.

    PubMed

    Tan, Onder; Atik, Bekir

    2007-01-01

    The triangular flap repair is one of the most common techniques used in cleft lip surgery. However, inability to address the nasal deformity and loss of orbicularis wholeness accompanied with incomplete reorientation have been two major handicaps of the triangular repair. Therefore, we developed our personal technique, called the triangular with ala nasi (TAN) repair, including a perialar incision and a distinct approach to the skin and muscle. We applied the TAN technique to 32 consecutive (19 male and 13 female) patients with unilateral cleft. The mean age at repair was 2.5 (1-32) years. The cleft lip appeared completely and incompletely in 11 and 21 patients, respectively. The postoperative outcomes were assessed subjectively by Williams test and objectively by Lindsay-Farkas method.The mean follow-up time was 17.1 months. No early complication involving hematoma, infection, wound dehiscence, or partial or total flap loss was encountered. The recoveries of 79.1% and 86.2% on average, when compared with the noncleft side, were obtained postoperatively. With our technique, we aimed at combining the useful properties of the two popular techniques, Millard and Tennison-Randall. The TAN repair lengthens the vertical lip using a triangular flap, resulting in a nonlinear, zig-zag scar on the philtral ridge and forming a symmetrical cupid's bow, superiorities of the Tennison-Randall repair. On the other hand, our method also presents an excellent approximation of both the deep and superficial muscle groups and reduces the nasal deformity with a perialar incision, features of the Millard's technique.

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

    ERIC Educational Resources Information Center

    Edmonson, Rebecca; Reinhartsen, Debra

    1998-01-01

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

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

    ERIC Educational Resources Information Center

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

    2015-01-01

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

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

    PubMed Central

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

    2009-01-01

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

  3. A New Classification System for Unilateral Cleft Lip and Palate Infants to assist Presurgical Infant Orthopedics.

    PubMed

    Daigavane, P S; Hazarey, P V; Niranjane, P; Vasudevan, S D; Thombare, B R; Daigavane, S

    2015-01-01

    The proposed advantages of pre-surgical naso-alveolar moulding (PNAM) are easy primary lip repair which heals under minimum tension reducing the scar formation and improving the aesthetic results in addition to reshaping of alar cartilage and improvement of nasal symmetry.However, the anatomy and alveolar morphology varies for each cleft child; the procedure for PNAM differs accordingly. In an attempt to categorize unilateral cleft lip and palate cases as per anatomical variations, a new classification system has been proposed. This classification aims to give an insight in unilateral cleft morphology based on which modification in PNAM procedure could be done.

  4. Social motivation in individuals with isolated cleft lip and palate.

    PubMed

    van der Plas, Ellen; Koscik, Timothy R; Conrad, Amy L; Moser, David J; Nopoulos, Peg

    2013-01-01

    Social isolation is common among individuals with isolated cleft lip and palate (ICLP), but the available data on why this may be are mixed. We present a novel theory relating to reduced social motivation in ICLP, called the social abulia hypothesis. Based on this hypothesis, we predicted that reduced social motivation would lead to reduced responsiveness to negative social feedback, in terms of both explicit responses and noncontrolled, psychophysiological responses. Twenty males with ICLP and 20 normal comparison males between 13 and 25 years old participated in the study. Social motivation was examined by measuring participants' response to negative social feedback (social exclusion). Additionally, psychophysiological reactivity to positive and negative social stimuli was measured. In order to rule out other potential contributors to social isolation, we tested basic social perception, emotion recognition, and social anxiety. In line with the social abulia hypothesis, we show that negative social feedback had less of an effect on males with ICLP than on healthy male peers, which was evident in explicit responses and noncontrolled, psychophysiological responses to negative social feedback. Our results could not be attributed to problems in social perception, a lack of understanding facial expressions, or increased social anxiety, as groups did not differ on these constructs. This study suggests that current views on social isolation in ICLP may need to be reconsidered to include the possibility that isolation in this population may be the direct result of reduced social motivation.

  5. Occlusal Disorders among Patients with Total Clefts of Lip, Alveolar Bone, and Palate

    PubMed Central

    Paradowska-Stolarz, Anna

    2014-01-01

    Clefts are common birth defects. They are accompanied by various malformations, including disturbances in facial look as well as skeletal disorders that include malocclusions, most frequently crossbites and class III anomalies. The aim of the study was to present the commonest malocclusions in patients with total cleft of the lip, alveolar bone and palate (n = 154) and compare the results to the healthy on-cleft patients (n = 151). Normal occlusion, characteristic for I angle class, was observed in 50% of the control group and 30% of the examined. In the examined patients with clefts, most frequently crossbite and open bite on the cleft side was observed. In patients with clefts, only 2 out of 154 patients presented isolated dental anomalies. In healthy individuals the commonest occlusal disorder was distal occlusion and dental anomalies. The commonest malocclusions among patients with clefts are crossbites and class III malocclusions. PMID:24982898

  6. An intraoral appliance for management of the protrusive premaxilla in bilateral cleft lip.

    PubMed

    Reisberg, D J; Figueroa, A A; Gold, H O

    1988-01-01

    Management of the protruding premaxilla and prolabium in bilateral cleft lip and palate can be a confounding problem. This report introduces an intraoral traction appliance that has been successfully used to move the premaxilla and prolabium to a more favorable position for surgical repair of the bilateral cleft lip. The appliance consists of a palatal baseplate for anchorage and a latex rubber traction strip looped over the prolabium to retract the premaxillary segment. The results in five cases are presented and compared to two cases where no presurgical management was performed and lip repair had been delayed for medical reasons. Advantages and disadvantages of the appliance are discussed.

  7. Pre: Surgical orthopedic pre-maxillary alignment in bilateral cleft lip and palate patient

    PubMed Central

    Ellore, Vijaya Prasad Kamavaram; Ramagoni, Naveen Kumar; Taranatha, Mahantesha; Nara, Asha; Gunjalli, Gururaj; Bhat, Ashwin Devasya

    2012-01-01

    Pre-surgical orthopedic appliances are mainly used to retract and align the protruded and deviated pre-maxilla and to facilitate initial lip repair. This article presents a case report of a five year old male child patient with bilateral cleft lip and palate in whom a special custom made pre-surgical orthopedic appliance was delivered. Use of a special custom made presurgical orthopedic appliance for repositioning pre-maxilla in bilateral cleft lip and palate patient is discussed in this article. PMID:23293501

  8. Changing perspectives in cleft lip and palate: from acrylic to allele.

    PubMed

    Tollefson, Travis T; Senders, Craig W; Sykes, Jonathan M

    2008-01-01

    Cleft lip and palate deformities are the most common congenital abnormalities of the head and neck. Advancements in the various multidisciplinary fields involved in cleft management have substantially improved functional and aesthetic outcomes. The legitimacy of such controversial topics as gingivoperiosteoplasty, primary rhinoplasty, and presurgical nasoalveolar molding is heavily contested. Bone morphogenetic protein and other recombinant growth factors may play important roles in future cleft care. As the candidate alleles that contribute to cleft lip and palate are further elucidated, the complex interplay of environmental influence and genetic predisposition is emphasized. Translational research from fields such as fetal wound healing, tissue engineering, and gene therapy may have clinical applications as cleft care continues to evolve.

  9. Pre Surgical Nasoalveolar Molding: Changing Paradigms in Early Cleft Lip and Palate Rehabilitation

    PubMed Central

    Murthy, Prashanth Sadashiva; Deshmukh, Seema; Bhagyalakshmi, A; Srilatha, KT

    2013-01-01

    Background: Alveolar and nasal reconstruction for patients with cleft lip and palate is a challenge for the reconstructive surgeon. Various procedures have been attempted to reduce the cleft gap so as to obtain esthetic results post surgically. Yet there is need of continuous exploration of newer and better methods. Rehabilitation of cleft lip and palate generally requires a team approach with paedodontists playing a major role of performing nasoalveolar molding. Presurgical Nasoalveolar Molding (PNAM) was introduced to reshape the alveolar and nasal segments prior to surgical repair. Over the time there have been changes in the concepts of the same. To assess these changing concepts a pubmed search was performed with different related terminologies and articles over a period of 30 years were obtained. Among the articles retrieved, studies performed over different concepts in early management of cleft lip and palate was selected for the systematic review. Aims This paper describes the changing paradigms in the management of patients with cleft lip and palate, focuses on the current concept of Presurgical nasoalveolar molding(PNAM) and discusses the long term benefits of the same. Conclusion The concept of the management of cleft lip and palate has changed over the time with more emphasis on the nasal and alveolar molding prior to the primary lip repair. This molding reduces the number reconstructive surgeries performed later for the purpose of esthetics. How to cite this article: Murthy P S, Deshmukh S, Bhagyalakshmi A, Srilatha K T. Pre Surgical Nasoalveolar Molding: Changing Paradigms in Early Cleft Lip and Palate Rehabilitation. J Int Oral Health 2013; 5(2):76-86. PMID:24155594

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

    MedlinePlus

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

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

    ERIC Educational Resources Information Center

    McDonald, Eugene T.; Berlin, Asa J.

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

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

    PubMed Central

    Kianifar, Hamidreza; Hasanzadeh, Nadia; Jahanbin, Arezoo; Ezzati, Atefeh; Kianifar, Homa

    2015-01-01

    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 in East Asian countries and higher than

  13. Cleft lip with or without cleft palate: identification of sporadic cases with a high level of genetic predisposition.

    PubMed Central

    Crawford, F C; Sofaer, J A

    1987-01-01

    Previous studies have suggested that asymmetry for certain bilaterally represented features may be an indicator of genetic predisposition to cleft lip with or without cleft palate and may therefore be of value in the individual assessment of recurrence risk, particularly for sporadic cases. An asymmetry score has been devised that may be of use in identifying those with a high level of genetic predisposition. Stepwise logistic regression selected nine variables that together correctly classified 85% of familial cleft patients and unrelated non-cleft controls. Applying the same regression equation to sporadic cases, 26% fell into the range occupied by the majority of familial patients, suggesting that these had a high level of genetic predisposition. PMID:3572999

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

    PubMed Central

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

    2015-01-01

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

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

    SciTech Connect

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

    1996-12-30

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

  16. [The treatment of cleft lip, cleft palate and other dysmorphisms: the ideal technic and therapeutic reality].

    PubMed

    Chancholle, A R; Saboye, J

    2004-12-01

    Good results in any surgical or orthodontic procedure require expert technique, well adapted to the problem and scrupulously executed. A technique that would achieve the best results can be described as "ideal" and can serve as a theoretical model for all similar cases. But, in dealing with apparently similar problems: cleft lips and palates, Class II or Class III cases... in reality, we are treating individual patients, none quite the same as any other. These differences derive from the varying characteristics of individual patients and from the varying and unpredictable responses of their tissues, and from their varying capacities to accommodate to and withstand insults, suffering, and the sensory-motor effects of their deformities and of the treatment they undergo, and, finally, from their variable readiness to submit to and to pay for treatment with their time and with their money. Any therapeutic technique must take into account these realities which sometimes oblige us to modify an ideal technique so that it will fit the specialized needs of a patient, an accommodation that can be defined as "therapeutic realism". When we ignore this reality, we risk the paradox of providing patients with technically ideal results that they find unsatisfactory or discover that what we thought was a technically mediocre outcome has delighted our patient: ultimately, it is the patient's judgment that determines the "therapeutic result" and is, in effect, the Final Evaluation of the technical result.

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

    PubMed Central

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

    2014-01-01

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

  18. Maxillary lateral incisors of subjects with cleft lip and/or palate: Part 2.

    PubMed

    Suzuki, A; Watanabe, M; Nakano, M; Takahama, Y

    1992-07-01

    Maxillary lateral incisors on the alveolar cleft were investigated in 431 cleft children registered in the Department of Orthodontics, Kyushu University Dental Hospital. The majority of primary maxillary lateral incisors were located on the distal side of the alveolar cleft in both unilateral cleft lip and alveolus (UCLA) and unilateral cleft lip and palate (UCLP) subjects. Permanent teeth in UCLA tend to be located distally, but in UCLP they tend to be congenitally absent (p less than .01). The majority of primary teeth had normal shapes; the majority of permanent teeth were of intermediate type or were missing congenitally. One third of the UCLA and one half of the UCLP subjects who had primary maxillary lateral incisors were not followed by permanent replacements. The location of the majority of permanent maxillary lateral incisors tallied with that of the primary ones except in four UCLA, ten UCLP, and two bilateral cleft lip and palate (BCLP) subjects. Four UCLA and ten UCLP subjects who had primary lateral incisors on the distal side were followed by their permanent successors on the mesial side. Three UCLP and one BCLP subjects had permanent maxillary lateral incisors even though they had no temporary predecessors.

  19. Association between velopharyngeal function and dental-consonant misarticulations in children with cleft lip/palate.

    PubMed

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

    2001-06-01

    We studied the association between velopharyngeal function and misarticulation of the dental consonants /r/, /s/ and /l/ in children with cleft lip/palate. We assessed 278 6-year-old Finnish-speaking non-syndromic children (115 girls, 163 boys) with isolated cleft palate (n= 81), cleft lip/alveolus (n= 82) or unilateral (n= 84) or bilateral (n= 31) cleft lip and palate. Auditory analysis of speech and velopharyngeal function, the presence of fistulae, previous velopharyngoplasty and speech therapy, as well as surgical technique and timing of primary palatal surgery were obtained from the hospital records. The misarticulations of the sounds /r/, /s/ and /l/ were evaluated in spontaneous speech by two experienced speech pathologists from the cleft team. Velopharyngeal function was categorised, on the basis of the effect on speech, into competent, marginal incompetent and obvious incompetent. Nasal grimace and distortions due to palatal fistulae were registered. The results indicated that velopharyngeal function was not significantly associated with misarticulation of any of the sounds /r/, /s/ and /l/ or their combinations in any cleft groups. The technique and timing of primary palatal surgery, the presence of fistulae and previous pharyngoplasty were not associated with misarticulations. On the basis of these results we conclude that dental-consonant misarticulations occur independently of velopharyngeal function, primary palatal surgical technique and timing of palatoplasty.

  20. Lessons learned from two consecutive cleft lip and palate missions and the impact of patient education.

    PubMed

    Schönmeyr, Björn; Restrepo, Carolina; Wendby, Lisa; Gillenwater, Justin; Campbell, Alex

    2014-09-01

    Two consecutive cleft missions were conducted in Guwahati, northeastern India in December 2010 and January 2011. In the later mission, a standardized patient education program for postoperative care was introduced. The objective of this study was to retrospectively evaluate the impact of the patient education program on cleft lip complications in terms of wound infection and dehiscence. Two hundred ninety-eight cleft lip repairs were performed in the first mission and 220 (74%) returned for early follow-up. In the second mission, 356 patients were operated on and 252 (71%) returned for follow-up. From the first mission, 8 patients (3.7%) were diagnosed with lip wound infection and 21 patients (9.6%) with lip dehiscence. After the second mission, only 1 patient (0.4%) returned with a wound infection and 16 (6.4%) were diagnosed with dehiscence.Using binary logistic regression including age, cleft type, postoperative antibiotics, surgeon, and patient education program as covariates, the patient education program stood out as the only variable with a statistically significant impact on the incidence of postoperative wound infections. Even though the incidence of lip dehiscence was reduced by one third when the patient education program was utilized, our regression model singled out the surgeons as the only factor significantly related to this type of complication. Moreover, no benefits of postoperative antibiotic prophylaxis were found. Further analysis of the data also implied that the use of tissue adhesive as a compliment to sutures does not reduce the risk of dehiscence.

  1. Nasoalveolar molding for infants born with clefts of the lip, alveolus, and palate.

    PubMed

    Grayson, Barry H; Maull, Deirdre

    2004-04-01

    The principle objective of presurgical nasoalveolar molding (NAM) is to reduce the severity of the initial cleft deformity. This enables the surgeon and the patient to enjoy the benefits associated with a repair of a cleft deformity that is of minimal severity. Retraction of the premaxilla, presurgical elongation of the columella, correction of the nasal cartilage deformity, alignment of the cleft alveolar segments, increase in the surface area of the nasal mucosal lining, up-righting of the columella, and achieving close approximation of the cleft lip segments at rest result from gentle application of forces through the NAM appliance. Preservation of these presurgical changes is achieved through the coordinated and modified surgical technique of the primary cleft repair.

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

    PubMed Central

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

    2015-01-01

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

  3. Anatomy research of nasolabial muscle structure in fetus with cleft lip: an iodine staining technique based on microcomputed tomography.

    PubMed

    Wu, Jiajun; Yin, Ningbei

    2014-05-01

    A thorough knowledge of the anatomic structure of the orbicularis oris of the upper lip and the nasalis in fetus with cleft lip is the key for the success of cleft lip repair. To understand the anatomic structure of the muscles of nasolabial region in fetus with cleft lip, the nasolabial tissues in 4 aborted fetuses with cleft lip were soaked for 7 days with iodine solution (Lugol solution of 3.75%) and were given micro-computed tomography. After the iodine solution permeated into the soft tissues, a good contrast was showed between muscle fibers and other fibrillar connective tissues. Through the observation of the obtained images, we found that most orbicularis oris fibers gathered into bundles with clear outline and only had slight deformation and displacement on the health side of the cleft of the unilateral incomplete cleft lip; however, in the lateral cleft, the muscle fibers not only had deformation and displacement but also were immature, disorganized, and not gathered into bundles. After being restored in Digital Imaging and Communications in Medicine format, the obtained images were then transferred into Materialise's interactive medical image control system, edited, and reconstructed into three-dimensional models. The models clearly showed the spatial relationship between the muscular tissues of the nasolabial region and the nasolabial outline in fetus with cleft lip.

  4. Prevalence of dental anomalies in patients with cleft lip and palate.

    PubMed

    Eslami, Neda; Majidi, Mohammad Reza; Aliakbarian, Majid; Hasanzadeh, Nadia

    2013-09-01

    The aim of the present study was to investigate the prevalence of dental anomalies in a group of patients with cleft lip and palate (CL/P) in the northeast of Iran. Ninety-one patients referring to the Cleft Lip and Palate Clinic of Mashhad Dental School were enrolled and classified into right CL/P, left CL/P, and bilateral CL/P groups. Photographs, dental casts, and panoramic and periapical radiographs were retrieved, and dental anomalies were recorded. χ test was used to analyze the frequency of dental anomalies according to type of cleft and sex. Missing maxillary lateral incisors was the most frequent dental anomaly, which was slightly higher in the bilateral group (61.1%). There were significantly more cases of missing lateral incisors outside the cleft area in right CL/P (P = 0.015). Peg lateral incisors were observed in 33.3% of bilateral CL/P compared with 28% of right and 23.3% of left unilateral cases. The sample presented rotations of central incisors in the cleft area in 33.3% of bilateral clefts. In unilateral clefts, it occurred more frequently in the right side (48%). Sexual dimorphism appeared only for maxillary central incisor rotation in the cleft area, which showed significantly greater frequency in females (P = 0.025). Transposition of maxillary canine and first premolars was found in 5.5% of bilateral, 8% of right, and 3.3% of left unilateral clefts. The prevalence of dental anomalies in the studied sample seems to be higher than that reported in the normal population. More anomalies were observed at the cleft side. The frequency of most anomalies was not significantly different between the 2 sexes.

  5. Prevalence of cleft lip and/or palate in children from Lodz between years 1981-2010.

    PubMed

    Antoszewski, Bogusław; Fijałkowska, Marta

    2016-03-01

    Congenital malformations constitute a serious problem of both medical and social nature. Cleft lip and/or palate represent the most common congenital anomaly of the face that is why it is essential to know the real frequency of the described phenomenon. The aim of this paper is to determine the frequency of cleft lip and/or palate and the types of malformations that occurred in Lodz city between the years 1981-2010. Our clinic has been carrying on the studies concerning the incidence of cleft lip and/or palate since 1981. The Polish Registry of Congenital Malformations has been operating in Poland since 1 April 1997. The team has managed to obtain data, from the Registry, concerning the total number of all live born infants and the number of children with cleft lip and/or palate, who were born in Lodz, between 1998 and 2010. In years 1981-2010, 319 children, in 210 952 live born infants, were born with cleft lip and/or palate in Lodz. The isolated cleft palate was observed more frequently in girls and the unilateral cleft of lip and palate in boys. In all three decades palate clefts are more common whereas bilateral lip, alveolus and palate clefts are more infrequent. A small tendency to decrease in actual cleft lip and/or palate frequency among children, in the period of 30 years, is observed in Lodz. Over the years it has still been observed that the isolated cleft palate is the most common type of defect.

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

    PubMed Central

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

    2014-01-01

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

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

    ERIC Educational Resources Information Center

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

    2010-01-01

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

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

    ERIC Educational Resources Information Center

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

    2012-01-01

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

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

    ERIC Educational Resources Information Center

    Imhoff, Michael; And Others

    1981-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  11. Initial size of cleft does not correlate with size and function of nasal airway in adults with unilateral cleft lip and palate.

    PubMed

    Reiser, Erika; Andlin-Sobocki, Anna; Mani, Maria; Holmström, Mats

    2011-06-01

    The noses of patients with clefts are often functionally inadequate. The aim of the present study was to evaluate the correlation between size of the maxillary cleft in infancy and size and function of the nasal airway in adults with unilateral cleft lip and palate (UCLP). This is a long-term follow up study including 53 patients with UCLP born between 1960 and 1987 and treated at the Cleft Lip and Palate Centre, Uppsala University Hospital, Sweden. Lip repair was performed at 3-4 months of age followed by either a one-stage or a two-stage palatal closure. The size of the cleft was measured on infant maxillary dental casts. Nasal minimum cross-sectional area (cm(2)) and volume (cm(3)) (acoustic rhinometry), air flow resistance (Pa s/cm(3)) (rhinomanometry), peak inspiratory flow (l/min) (peak nasal inspiratory flow) and number of identified odours (Scandinavian odor-identification test) were assessed in adulthood. The size of the maxillary cleft varied considerably at infancy. The size of the nasal airway and its function on the cleft side in adulthood were reduced compared with the non-cleft side, but no correlations were found between size of the initial cleft in infancy and size and function of the nasal airway in adulthood. In adults born with UCLP, therefore, size of the maxillary cleft in infancy does not seem to affect size and function of the nasal airway in adulthood.

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

    PubMed

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

    2010-03-01

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

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

    PubMed Central

    Nicholls, Wendy

    2016-01-01

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

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

    SciTech Connect

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

    1992-09-01

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

  15. Dental caries in the primary dentition of german children with cleft lip, alveolus, and palate.

    PubMed

    Kirchberg, Anja; Makuch, Almut; Hemprich, Alexander; Hirsch, Christian

    2014-05-01

    Objective : The purpose of this cross-sectional study was to assess the prevalence of dental caries in children with cleft lip, alveolus, and/or cleft palate living in central Germany between 1996 and 2010. Participants : A total of 295 children 1 to 6 years of age from three birth cohorts (BC) with clefts from central Germany were included in the study. They were compared with 548 1- to 6-year-old cleft-free children from the same region. Setting : Children with clefts underwent a dental examination in an outpatient dental clinic at the University of Leipzig. The first BC was examined between 1996 and 1998, the second between 2002 and 2004, and the third between 2008 and 2010. Controls were examined at day-care centers in Leipzig during the same periods. Main Outcome Measure : The standard dental caries index for the primary dentition (dmf/t3-4) was used for clinical assessment. Results : Over the entire study period, the mean prevalence of dental caries in deciduous teeth was significantly higher (1.32 dmf/t3-4) in children with clefts compared with cleft-free children. However, a decline in caries (approximately 1 dmf/t3-4) and an increase in the proportion of children with healthy primary dentition were observed in both groups. These results represent a caries decline of 61% in children with clefts. Conclusions : Caries rates for children 1 to 6 years of age with clefts from central Germany showed a considerable decline over the last years. The caries rates for clefts patients in the third BC (2008 to 2010) was similar to that of cleft-free children in the first BC (1996 to 1998).

  16. An intelligibility assessment of toddlers with cleft lip and palate who received and did not receive presurgical infant orthopedic treatment.

    PubMed

    Konst, E M; Weersink-Braks, H; Rietveld, T; Peters, H

    2000-01-01

    A randomized, prospective, clinical study was performed investigating the effects of presurgical infant orthopedic treatment (PIO) in children with unilateral cleft lip and palate (UCLP). The influence of PIO on speech intelligibility was evaluated with two groups, each consisting of 10 children with UCLP. One group used PIO during the first year of life, whereas the other group did not use the device. Eight children without cleft served as a second control group. Intelligibility was assessed by lay listeners using two methods: transcription and listener rating. The ratings proved to be reliable and to have sufficient validity, but they did not completely reflect intelligibility defined as the proportion of words understood by the listener. Children in the treatment group were rated as exhibiting greater intelligibility than those in the nontreatment group. However, data obtained by means of transcriptions indicated that, in fact, there were no group differences in actual intelligibility. Only in comparison with their noncleft peers were the children with cleft lip and palate significantly less well understood.

  17. Latham's appliance for presurgical repositioning of the protruded premaxilla in bilateral cleft lip and palate.

    PubMed

    Bitter, K

    1992-04-01

    Dislocation of the maxillary segments in cleft lip and palate still is a challenge to the surgeon and the orthodontist. The premaxillary protrusion in bilateral cleft lip and palate, complicates the treatment severely. Latham's appliance, inserted on average at 2-months-of-age, relocates the segments over 3-4 weeks. Removal of the appliance is immediately followed by functional surgery. The first operation comprises: (1) intra-alveolar veloplasty; (2) closure of the alveolar cleft with the help of a gingivo-periosteal-plasty; (3) lip adhesion and (4) insertion of ear tubes. This operating schedule establishes the functional matrix as early as possible. Midfacial growth as well as language and speech development are provided with the necessary preconditions as far as we understand this complex situation. Five cases, being representative of 41 cases, are outlined in detail. The longest follow up period is 3 years; no growth disturbance of the maxilla has been detected to date. Definitive lip and columella surgery is facilitated.

  18. Cleft lip and palate: Parental experiences of stigma, discrimination, and social/structural inequalities

    PubMed Central

    Adeyemo, Wasiu Lanre; James, Olutayo; Butali, Azeez

    2016-01-01

    Background: Cleft lip and palate (CLP) are the most common craniofacial birth impairment and one of the most common congenital impairments in humans. Anecdotal evidence suggests that stigmatization, discrimination, and sociocultural inequalities are common “phenomenon” experienced by families of children with CLP in Nigeria. This study aimed to explore the stigmatization, discrimination, and sociocultural inequalities experiences of families with children born with CLP. Materials and Methods: The study was carried out at the surgical outpatient cleft clinic of the Lagos University Teaching Hospital, Lagos, Nigeria. This was a cross-sectional descriptive study among mothers of children born with CLP, using both interviewer-administered questionnaire and a semi-structured interview. Results: A total of 51 mothers of children with cleft lip and/or palate participated in the study. 35.3% of respondents believed cleft was an “act of God,” whereas others believed it was either due to “evil spirit” (5.9%), “wicked people” (9.8%). Seventy-three percent of the mothers were ashamed of having a child with orofacial cleft. Two of the respondents wanted to abandon the baby in the hospital. About a quarter of the respondent wished the child was never born and 59% of the fathers were ashamed of the facial cleft. Fifty-one percent admitted that their relatives were ashamed of the orofacial cleft, and 65% admitted that their friends were ashamed of the cleft. In addition, 22% of the respondents admitted that they have been treated like an outcast by neighbors, relatives, and friends because of the cleft of their children. When asked about refusal to carry the affected children by friends, relatives, and neighbors, 20% of respondents said “Yes.” Conclusions: Myths surrounding the etiology of orofacial cleft are prevalent in Nigeria. Parents and individuals with CLP experience stigma as well as social and structural inequalities due to societal perceptions and

  19. Maternal effects in human cleft lip and palate.

    PubMed Central

    Bingle, G J; Niswander, J D

    1977-01-01

    To look for a persistent maternal effect of CL(P) and CP, 8,000 pedigrees were screened for half sibships, and data were pooled from 16 investigators. After excluding known genetic or cytogenetic diagnoses from the probands with facial clefts, a recurrence risk of .011 was obtained for CL(P) based upon 342 maternal half sibs. This was nearly identical to the risk of .014 based upon 210 paternal half sibs. CP proband frequencies of .004 for maternal half sibs and .009 for the paternal counterparts were also found. The lack of significant maternal effects in this data supports previously reported data from twin studies and from interracial crosses from Hawaii. The lack of maternal effect in human CL(P) and CP is in contrast to genetic data on clefting in mice. PMID:930925

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

    PubMed

    Díaz Casado, G H; Díaz Grávalos, G J

    2013-01-01

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

  1. Prenatal Counseling, Ultrasound Diagnosis, and the Role of Maternal-Fetal Medicine of the Cleft Lip and Palate Patient.

    PubMed

    James, Jeffrey N; Schlieder, Daniel W

    2016-05-01

    A multidisciplinary team is the standard of care and the cornerstone of management of cleft patients. With readily improving advanced diagnostic modalities, early prenatal diagnosis of cleft lip and palate increasingly becomes a topic of importance for both the team caring for and families of cleft patients. Maternal-fetal medicine is a fellowship subspecialty of obstetrics that can offer high-quality care and coordination to the cleft team. Both 3-D and 4-D sonography lead to early prenatal diagnosis of cleft patients; however, differences in training result in variations in its diagnostic accuracy.

  2. A preliminary report on one stage open tip rhinoplasty at the time of lip repair in bilateral cleft lip and palate: the Alor Setar experience.

    PubMed

    Trott, J A; Mohan, N

    1993-04-01

    This paper is a preliminary report on a strategy to perform open tip rhinoplasty at the time of lip repair in bilateral cleft lip and palate deformity. This method was devised to suit unique socio-economic circumstances in the Malaysian centre of Alor Setar. Of 8 cases having surgery in 1991, 7 returned for follow-up with results being documented photographically. It is concluded that this aggressive approach is justified in severe bilateral cleft lip and palate deformity because of the cost effectiveness of limiting the number of interventions. Furthermore, it provides optimally orientated nasal tip anatomy and reduces the social stigma of cleft lip nose appearance from the earliest possible time in the child's development.

  3. Secondary bilateral cleft lip-nose deformity correction by rhinoplasty with simultaneous Abbe flap

    PubMed Central

    Mokal, Nitin J.; Juneja, Manpreet

    2014-01-01

    Aim: The purpose of this article is to review modification and outcome of secondary rhinoplasty along with Abbé flap for correction of secondary bilateral cleft lip deformity. Materials and Methods: A total of thirteen patients of secondary bilateral cleft lip-nose deformity having tight upper lip, lack of acceptable philtral column, Cupid's bow definition, irregular lip scars, and associated nasal deformity were selected. All the patients received Abbé flap and simultaneous nasal correction. All cases were treated during a period of three years. Mean patient age at the time of the operation was 21 years, and ranged from 16 to 27 years. The average follow-up period was three years. Results: Assessment of results was based on comparing preoperative and postoperative clinical photographs done by surgeon and patient relatives and patient satisfaction questionnaires. The columellar lengthening and upper lip vermillion correction achieved was satisfactory. There were no perioperative complications such as airway obstruction, bleeding, infection, wound disruption, or flap necrosis. PMID:24987200

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

    PubMed

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

    2014-01-01

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

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

    PubMed Central

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

    2014-01-01

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

  6. New neonatal classification of unilateral cleft lip and palate part 2: to predict permanent lateral incisor agenesis and maxillary growth.

    PubMed

    Doucet, Jean-Charles; Delestan, Christian; Montoya, Pedro; Matei, Lucia; Bigorre, Michèle; Herlin, Christian; Baümler, Caroline; Daures, Jean-Pierre; Captier, Guillaume

    2014-09-01

    Objectives : To bring a neonatal classification system of unilateral cleft lip and palate and to correlate this classification with the distribution of the permanent lateral incisor and maxillary growth. Design : Retrospective with longitudinal follow-up. Setting : Tertiary. Patients : A total of 112 individuals with treated unilateral cleft lip and palate and 30 controls. Main Outcome Measures : Unilateral cleft lip and palate neonatal casts were classified anatomically in four categories, in which Class 1 corresponds to a maxillary arch with a narrow alveolar cleft; Class 2 corresponds to a balanced form; Class 3 corresponds to a wide cleft and short maxilla; and Class 4 corresponds to a wide cleft and long maxilla. The classification was correlated with the distribution of the permanent lateral incisor. Maxillary growth was evaluated using a cephalometric analysis after the age of 10 years. Results : Clinical classification of unilateral cleft lip and palate found 10 cases of Class 1 (8.9%), 34 cases of Class 2 (30.4%), 46 cases of Class 3 (41.1%), and 22 cases of Class 4 (19.6%). The permanent lateral incisor was most often present in narrower clefts (Classes 1 and 2); whereas, large clefts (Classes 3 and 4) were relatively more frequently associated with an agenesis of the permanent lateral incisor (P = .019). Maxillary growth impairment was most severe in Class 3, with a mean sella-nasion-A point angle at 71.9° ± 4.6° (P < .001). Conclusions : Using the cleft width, arch form, and shape of the nasal septum, unilateral cleft lip and palate can be classified into four different classes at birth, which can all give information about permanent lateral incisor agenesis and maxillary growth.

  7. Tooth ankylosis in deciduous teeth of children with cleft lip and/or palate.

    PubMed

    Aranha, Andreza Maria Fábio; Duque, Cristiane; Silva, Juliana Yassue Barbosa da; Carrara, Cleide Felício Carvalho de; Costa, Beatriz; Gomide, Marcia Ribeiro

    2004-01-01

    The present study aimed at evaluating the prevalence of tooth ankylosis in deciduous molars of Caucasian children with cleft lip and/or palate aged 5 to 12 years, of both genders. A total of 330 patients seen at the Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo for routine treatment were clinically evaluated. The prevalence of ankylosis was analyzed in relation to gender, age range (5-7, 8-10, 11-12 years), type of cleft, affected tooth and arch. The total group showed a prevalence of 18%, with no statistical difference between genders and among types of cleft; ankylosis was more often in the mandibular arch, lower first molars and among children in the age ranges 8-10 and 11-12 years. The results agreed with those observed in the related literature for patients without clefts, pointing out the absence of influence of the cleft on the prevalence of ankylosis. This reinforces the importance of early diagnosis of this anomaly and of the treatment of choice, which are similar in patients with or without clefts.

  8. An unusual type of sucking habit in a patient with cleft lip and palate.

    PubMed

    Satyaprasad, Savitha

    2009-01-01

    Digit sucking, a form of non-nutritive sucking, is a habit of concern to specialist in various fields such as psychiatrist, psychologist, pediatricians, pediatric dentists, orthodontist, speech pathologist and plastic surgeon. The habits have harmful unbalanced pressures to be born by the immature highly malleable alveolar ridges. Sucking behaviors have long been recognized to affect occlusion and dental arch characteristics. As early as 1870s, Campbell and Chandler recognized that prolonged finger or thumb sucking habits had deleterious effects on certain occlusal traits including anterior open bite, increased over jet and class II canine and molar relationships. However, little is known about digit sucking habit and its effect in a cleft lip and palate child as there is no literature till now reported on the digit sucking in a cleft lip patient.

  9. An innovative technique to restore velopharyngeal incompetency for a patient with cleft lip and palate

    PubMed Central

    Ahmad, Manawar; Dhanasekar, B; Aparna, I N; Naim, Hina

    2013-01-01

    Treatment of cleft lip and palate patients often demand well-coordinated work of medical and dental specialists. In spite of surgical and orthodontic therapy, prosthetic rehabilitation is always necessary because of partial anadontia, maxillary hypoplasia and velopharyngeal dysfuction. The aim of the prosthetic treatment is to improve aesthetics, function and speech of the patients; however, factors like underdeveloped and collapsed maxillary arch, retrognathic maxilla and reduced alveolar ridge height make the treatment challenging. This clinical report describes an interdisciplinary approach for the management of cleft lip and palate patient associated with mutilated dentition. The prosthetic phase began along with orthodontic treatment to achieve sufficient space distribution, which was restored with fixed dental prosthesis to stabilise the achieved status of occlusion. Palatal lift prosthesis was fabricated to restore the velopharyngeal incompetency with an innovative technique using ‘standard orthodontic expansion screw’ to eliminate hypernasality, decrease intelligibility of speech and to aid in deglutition. PMID:23821635

  10. An innovative technique to restore velopharyngeal incompetency for a patient with cleft lip and palate.

    PubMed

    Ahmad, Manawar; Dhanasekar, B; Aparna, I N; Naim, Hina

    2013-07-02

    Treatment of cleft lip and palate patients often demand well-coordinated work of medical and dental specialists. In spite of surgical and orthodontic therapy, prosthetic rehabilitation is always necessary because of partial anadontia, maxillary hypoplasia and velopharyngeal dysfuction. The aim of the prosthetic treatment is to improve aesthetics, function and speech of the patients; however, factors like underdeveloped and collapsed maxillary arch, retrognathic maxilla and reduced alveolar ridge height make the treatment challenging. This clinical report describes an interdisciplinary approach for the management of cleft lip and palate patient associated with mutilated dentition. The prosthetic phase began along with orthodontic treatment to achieve sufficient space distribution, which was restored with fixed dental prosthesis to stabilise the achieved status of occlusion. Palatal lift prosthesis was fabricated to restore the velopharyngeal incompetency with an innovative technique using 'standard orthodontic expansion screw' to eliminate hypernasality, decrease intelligibility of speech and to aid in deglutition.

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

    ERIC Educational Resources Information Center

    Lohmander, Anette; Lillvik, Malin; Friede, Hans

    2004-01-01

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

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

    ERIC Educational Resources Information Center

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

    2013-01-01

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

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

    ERIC Educational Resources Information Center

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

    2011-01-01

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

  14. A digital approach to photographing and measuring cleft lip and palate dental study casts.

    PubMed

    Goodfellow, Nicky

    2007-06-01

    This paper discusses whether a digital photographic technique can be used to produce a measurably accurate image of a dental cast arch, in order to assist the outcome assessments of cleft lip and palate surgery. It describes the measurement techniques, and discusses the factors affecting reproducibility. The results indicate that measurements which were taken from a digital image, using an on-screen measuring tool, correlated significantly with measurements taken manually from a plaster dental cast arch.

  15. Evaluating the use of octyl-2-cyanoacrylate in unilateral cleft lip repair

    PubMed Central

    Malhotra, Vijaylaxmy; Dayashankara Rao, J. K.; Arya, Varun; Sharma, Shalender; Singh, Sushil; Luthra, Payal

    2016-01-01

    Background: Facial cosmetic results are one of the most concerning issues for the parents who get their children operated for cleft lip. Moreover, the postoperative care of the surgical site, the discomfort associated with the suture removal, and additional visit for suture removal are other reasons which encourages one to use any new technologies that may replace the need for suture placement. In this study, we used octyl-2-cyanoacrylate, a tissue adhesive which offers a viable alternative to traditional techniques without compromising optimal wound closure. Objective: To perform a comprehensive comparison of the outcomes from the use of Dermabond in patients undergoing primary repair of congenital cleft lip ± palate anomalies. Materials and Methods: Twenty patients, in the age group of 3–18 months were treated surgically for unilateral cleft lip deformity using Millard rotation-advancement flap. Pre- and post-operative photographs of the patients were taken at 1 week, 2 week, 1 month, 6 months, and 1 year postoperatively and were evaluated using Vancouver scar scale which was given by Sullivan in 1990. Paired t-test was used for statistical analysis. Results: Increased vascularity (hyperemia) was seen in the 1st and 2nd week in 35% and 30% patients, respectively which gradually reduced to normal in subsequent follow-ups. The scar was flat in 85% of patients in 1st week, and the number decreased to 10% at the end of 1 year. No wound dehiscence was found in any patients. Statistical analysis showed that among all the follow-ups, only the difference between the first and second follow-ups. Comparison of the results of 1 week with all other follow-ups yielded no significant results. Conclusion: Octyl-2-cyanoacrylate can be used for cleft lip closure effectively. The procedure is relatively painless and quick. Added to this are benefits of protection from wound infection since the material is bacteriostatic. PMID:28356686

  16. Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palate

    PubMed Central

    Aspinall, Andrea; Raj, Supriya; Jugessur, Anil; Marazita, Mary; Savarirayan, Ravi; Kilpatrick, Nicky

    2014-01-01

    Background The aetiology of isolated clefts of the lip and/or palate remains obscure. Unaffected family members are treated as if their genetic risks are equivalent and low. Given the number of genes associated with both clefting and dental anomalies, the hypothesis that such anomalies contribute to the cleft phenotype should be explored. Aim To describe the dental characteristics of parents of children with non-syndromic cleft lip ± palate. Design Unaffected parents of Australian children with a cleft of the lip ± palate underwent dental examination including radiographs, photographs, and impressions. Dental anomalies were identified. Results Data were available on 101 parents (49 males, 52 females). Fifty-one participants had at least one dental anomaly. Twelve (11.8%) individuals had congenital absence of teeth, with seven missing multiple teeth. The tooth most commonly missing was the upper right lateral incisor. Five subjects (4.9%) had microdontia (upper lateral incisor most commonly affected). Four subjects (4.0%) had supernumerary teeth. Enamel defects were present in 27 (26.7%) cases with the incisors (46.8%) followed by premolars (24.2%) most affected. Conclusions This study supports previous work suggesting that ‘unaffected’ parents of children with clefts of the lip ± palate may present with dental anomalies. PMID:24237197

  17. Creating long-term benefits in cleft lip and palate volunteer missions.

    PubMed

    Ruiz-Razura, A; Cronin, E D; Navarro, C E

    2000-01-01

    The authors present their experience with 15 years of organizing cleft lip and palate surgical volunteer missions in Latin America. The history, basic principles, and objectives of Operation San Jose, a volunteer goodwill program from Christus St. Joseph Hospital in Houston, Texas, are covered. This report addresses the different problems encountered and solutions found. Following the principles set by Operation San Jose, CIRPLAST is a Peruvian foundation for plastic surgery that travels to remote areas in Peru, operating on patients with cleft lip and palate deformities. This report highlights the importance of working with local plastic surgeons and their residents, and emphasizes that the program should be organized by and the operations performed by accredited plastic surgeons and with the auspices and support of the national plastic surgery society and the local medical board. Operation San Jose promotes the creation of long-term benefits by offering a program to teach local surgeons cleft lip and palate repair techniques and to set up guidelines to organize local surgeons so that they can continue this effort by treating their own patients in their own countries.

  18. Prevalence of second premolar hypodontia in the Polish cleft lip and palate population

    PubMed Central

    Mikulewicz, Marcin; Ogiński, Tomasz; Gedrange, Thomas; Berniczei-Royko, Adam; Prussak, Elżbieta

    2014-01-01

    Background Cleft lip and/or palate is the most frequent congenital abnormality occurring in the craniofacial region and is often associated with numerous dental defects such as tooth agenesis, supernumerary teeth, microdontia, taurodontism, crown malformations, or delay in eruption. The prevalence of hypodontia in cleft-affected patients is much higher in comparison with a healthy population. The aim of this study was to evaluate the prevalence of second premolar hypodontia in patients with cleft lip and/or palate. Material/Methods We performed a retrospective, evaluation of panoramic radiographs and dental casts in the Department of Dentofacial Orthopeadics and Orthodontics, Wroclaw Medical University. Two independent observers evaluated the records of 469 patients with various types of clefts and analyzed dental casts and panoramic radiographs. Results 202 individuals met inclusion criteria. The sample comprised 120 UCLP patients, 38 BCLP patients, 28 CP patients, and 17 CLA patients. Hypodontia in the premolar region was observed in 39 individuals (19.3%). A total number of 58 second premolars were missing, of which 35 were maxillary second premolars (U5) and 23 were mandibular second premolars (L5). Conclusions Estimated hypodontia in the Polish CL/P sample was considerably higher than the hypodontia in permanent dentition reported for a European healthy population. The number of congenitally missing second premolars was higher in the maxillary arch than in the mandibular. PMID:24584216

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

    SciTech Connect

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

    1994-09-01

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

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

    PubMed

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

    2015-11-01

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

  1. Towards a new procreation ethic: the exemplary instance of cleft lip and palate.

    PubMed

    Le Dref, Gaëlle; Grollemund, Bruno; Danion-Grilliat, Anne; Weber, Jean-Christophe

    2013-08-01

    The improvement of ultrasound scan techniques is enabling ever earlier prenatal diagnosis of developmental anomalies. In France, apart from cases where the mother's life is endangered, the detection of "particularly serious" conditions, and conditions that are "incurable at the time of diagnosis" are the only instances in which a therapeutic abortion can be performed, this applying up to the 9th month of pregnancy. Thus numerous conditions, despite the fact that they cause distress or pain or are socially disabling, do not qualify for therapeutic abortion, despite sometimes pressing demands from parents aware of the difficulties in store for their child and themselves, in a society that is not very favourable towards the integration and self-fulfilment of people with a disability. Cleft lip and palate (CLP), although it can be completely treated, is one of the conditions that considerably complicates the lives of child and parents. Nevertheless, the recent scope for making very early diagnosis of CLP, before the deadline for legal voluntary abortion, has not led to any wave of abortions. CLP in France has the benefit of a exceptional care plan, targeting both the health and the integration of the individuals affected. This article sets out, via the emblematic instance of CLP, to show how present fears of an emerging "domestic" or liberal eugenic trend could become redundant if disability is addressed politically and medically, so that individuals with a disability have the same social rights as any other citizen.

  2. Teleducation about Cleft Lip and Palate: An Interdisciplinary Approach in the Promotion of Health

    PubMed Central

    Corrêa, Camila de Castro; Freire, Thais; Zabeu, Júlia Speranza; Martins, Aline; Ferreira, Rafael; Francisconi, Paulo Afonso Silveira; Dutka, Jeniffer de Cássia Rillo; Blasca, Wanderléia Quinhoeiro

    2015-01-01

    Introduction The Young Doctor Project (YDP) uses Telehealth and Interactive Teleducation instruments to promote the integration of different areas of health and to build knowledge. This methodology can also foster public awareness on various issues related to health. In this context, the objective of this study was to emphasize cleft lip and palate (CLP), which is one of the most common birth defects in Brazil. Objective The study aimed to apply a model of education regarding CLP, based on the dynamics of the YDP, and to evaluate the participants' knowledge acquired after participating in the YDP. Methods The participants were 41 students, 13 to 15 years of age and at the eight- and ninth-grade levels in a private elementary school in Bauru (Brazil). To analyze the performance of the participants, a questionnaire was administered before and after the completion of the training program. The training program was structured in three steps using: (1) interactive teleducation classes, (2) a cybertutor, and (3) practical activities. Results There was a statistically significant difference between the pre- and postparticipation questionnaire results. The improved performance of participants is evidenced by the increase in the rate of correct answers on all issues. Conclusion The YDP on CLP was applied in the school setting following the three steps recommended by the project, and, after the implementation of the training program, there was a significant increase in participants' knowledge of CLP. The YDP on CLP proved an effective tool in promoting health education. PMID:25992163

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

    PubMed Central

    FREITAS, José Alberto de Souza; de ALMEIDA, Ana Lúcia Pompéia Fraga; SOARES, Simone; NEVES, Lucimara Teixeira das; GARIB, Daniela Gamba; TRINDADE-SUEDAM, Ivy Kiemle; YAEDÚ, Renato Yassutaka Faria; LAURIS, Rita de Cássia Moura Carvalho; OLIVEIRA, Thais Marchini; PINTO, João Henrique Nogueira

    2013-01-01

    Treatment of patients with cleft lip and palate is completed with fixed prostheses, removable, total, implants and aims to restore aesthetics, phonetics and function and should be guided by the basic principles of oral rehabilitation, such as physiology, stability, aesthetics, hygiene and the expectations of the patient. In order to obtain longevity of a prosthetic rehabilitation, the periodontal and dental tissue as well as the biomechanics of the prosthesis are to be respected. The purpose of this article is to describe the types of prosthetics treatment, which are performed at HRAC/USP for the rehabilitation of cleft area in adult patients. PMID:23857655

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    1994-07-01

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

  6. Corpus callosum shape is altered in individuals with nonsyndromic cleft lip and palate.

    PubMed

    Weinberg, Seth M; Parsons, Trish E; Fogel, Melissa R; Walter, Courtney P; Conrad, Amy L; Nopoulos, Peg

    2013-05-01

    Individuals with nonsyndromic cleft lip with or without cleft palate (CL/P) have altered brain structure compared with healthy controls. Preliminary evidence suggests that the corpus callosum may be dysmorphic in orofacial clefting; however, this midline brain structure has not been systematically assessed in this population. The goal of the present study was to carry out a morphometric assessment of the corpus callosum and its relationship to cognitive performance in a well-characterized patient cohort with orofacial cleft. Midline brain images were obtained from previously collected MRI scans of 24 CL/P subjects and 40-adult-male controls. Eight landmarks on the corpus callosum were digitized on each image and their x,y coordinate locations saved. A geometric morphometrics analysis was applied to the landmark coordinate data to test for shape differences across groups. The relationship between corpus callosum shape and IQ was explored with nonparametric correlation coefficients. Results revealed significant differences in mean corpus callosum shape between CL/P cases and controls (P = 0.029). The CL/P corpus callosum was characterized by increased overall convexity resulting from a superior and posterior displacement. Within CL/P cases, increased corpus callosum shape dysmorphology was moderately correlated with reduced performance IQ (r = 0.546). These results provide additional evidence that midline brain changes may be an important part of the orofacial cleft phenotype.

  7. A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3.

    PubMed

    Pierpont, J W; St Jacques, D; Seaver, L H; Erickson, R P

    1995-03-01

    An unusual family with Waardenburg syndrome type 1 (WSI), cleft lip (palate), and Hirschsprung disease is not linked to the PAX 3 gene since there is an obligate crossover which has occurred between PAX 3 DNA markers and the disorder in this family. This family may also have anticipation of the WSI traits as the proband's grandmother is nonpenetrant, his mother has dystopia canthorum, and severe cleft lip (palate), while the proband has dystopia canthorum, severe cleft lip (palate), and Hirschsprung disease. Thus, a locus other than PAX 3 is implicated in this Waardenburg-like syndrome with Hirschsprung disease and cleft lip (palate).

  8. Nasolabial appearance in adults with repaired unilateral cleft lip and palate: Relation between professional and lay rating and patients' satisfaction.

    PubMed

    Mani, Maria R; Semb, Gunvor; Andlin-Sobocki, Anna

    2010-11-01

    The aim of the current study was to evaluate the relation between professional and lay rating and patients' satisfaction with nasolabial appearance in adults with repaired unilateral cleft lip and palate (UCLP). A cross-sectional population study, long-term follow-up with controls matched for age and sex was performed. All patients with complete UCLP born between 1960 and 1987 (n = 109), treated at Uppsala University Hospital, Sweden were invited and 83 (76%) agreed to participate. Follow-up was 20-47 years after primary lip surgery. An age- and sex-matched control group of 65 people were evaluated in the same way. Ratings from professional and lay panels of cropped photographs using a 5 point categorical scale for 4 features of the nasolabial appearance and the satisfaction with appearance questionnaire (SWA) for self-assessment were used. Professional and lay ratings correlated positively but the professionals consistently rated nasolabial appearance as better than did the lay panel (p < 0.001). Self-assessment of nasolabial appearance with the SWA (by patients and controls) did not correlate with the judgement of lay or professional panels. Judgement of nasolabial appearance in adults with repaired UCLP differs among professionals, lay people, and patients. This should be considered when deciding about secondary surgical treatment of signs of clefts.

  9. Modified Activation Technique for Nasal Stent of Nasoalveolar Molding Appliance for Columellar Lengthening in Bilateral Cleft Lip/Palate.

    PubMed

    Patil, Pravinkumar G; Nimbalkar-Patil, Smita P

    2016-03-22

    Bilateral cleft lip/cleft palate is associated with nasal deformities typified by a short columella. The presurgical nasoalveolar molding (NAM) therapy approach includes reduction of the size of the intraoral alveolar cleft as well as positioning of the surrounding deformed soft tissues and cartilages. In a bilateral cleft patient, NAM, along with columellar elongation, eliminates the need for columellar lengthening surgery. Thus the frequent surgical intervention to achieve the desired esthetic results can be avoided. This article proposes a modified activation technique of the nasal stent for a NAM appliance for columellar lengthening in bilateral cleft lip/palate patients. The design highlights relining of the columellar portion of the nasal stent and the wire-bending of the nasal stent to achieve desirable results within the limited span of plasticity of the nasal cartilages. With this technique the vertical taping of the premaxilla to the oral plate can be avoided.

  10. Minimally Painful Local Anesthetic Injection for Cleft Lip/Nasal Repair in Grown Patients

    PubMed Central

    Price, Christopher; Wong, Alison L.; Chokotho, Tilinde

    2014-01-01

    Introduction: There has been a recent interest in injecting large body and face areas with local anesthetic in a minimally painful manner. The method includes adherence to minimal pain injection details as well feedback from the patient who counts the number of times he feels pain during the injection process. This article describes the successes and limitations of this technique as applied to primary cleft lip/nasal repair in grown patients. Methods: Thirty-two primary cleft lip patients were injected with local anesthesia by 3 surgeons and then underwent surgical correction of their deformity. At the beginning of the injection of the local anesthetic, patients were instructed to clearly inform the injector each and every time they felt pain during the entire injection process. Results: The average patient felt pain only 1.6 times during the injection process. This included the first sting of the first 27-gauge needle poke. The only pain that 51% of the patients felt was that first poke of the first needle; 24% of the patients only felt pain twice during the whole injection process. The worst pain score occurred in a patient who felt pain 6 times during the injection process. Ninety-one percent of the patients felt no pain at all after the injection of the local anesthetic and did not require a top-up. Conclusion: It is possible to successfully and reliably inject local anesthesia in a minimally painful manner for cleft lip and nasal repair in the fully grown cleft patient. PMID:25289364

  11. Had prevalence of cleft lip and palate differed during the Iran-Iraq war?

    PubMed

    Jahanbin, Arezoo; Kianifar, Hamidreza; Yaghoubi-Al, Zahra; Malekian, Arash; Keikhaee, Bijan; Hasanzadeh, Nadia; Ezzati, Atefeh

    2013-05-01

    Cleft lip and palate are among the most common congenital defects with multifactorial etiology, and maternal stress may have a role in the development of the malformation; thus, the aim of this study was to explore the role of war on cleft lip and palate (CL/P) prevalence.In this study, records of 101,435 newborn infants delivered in the teaching hospitals of Mashhad and Ahwaz during wartime (1982-1987) and recent years (2005-2010) were reviewed. Samples were analyzed for prevalence of anomaly in both cities at 2 time intervals as well as some related factors; χ and t tests were used for data analysis.Results showed the incidences of CL/P in Mashhad during 1982 to 1987 and 2005 to 2010 were 2 and 2.2 per 1000 live births, respectively; however, its incidence in Ahwaz was 1 per 1000 during wartime and 0.7 per 1000 live births for recent years.Despite significant differences that were found in the prevalence of both cities in recent years (P = 0.001), no significant differences were observed during wartime (P = 0.28).The results revealed that CL/P was more prevalent in both cities, but in contrast to Ahwaz, cleft lip was more prevalent than isolated cleft palate in Mashhad, and significant differences were found between both cities (P = 0.007).The study concluded that the prevalence of CL/P in Ahwaz decreased after the war. However, in Mashhad, its prevalence, which was not affected during wartime, gradually increased. Thus, genetic research may be necessary to establish a genetic predisposition in northeast Iran.

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

    NASA Astrophysics Data System (ADS)

    Othman, Siti Adibah; Aidil Koay, Noor Airin

    2016-08-01

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

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

    PubMed Central

    Othman, Siti Adibah; Aidil Koay, Noor Airin

    2016-01-01

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

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

    PubMed Central

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

    2015-01-01

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

  15. [Principles of treatment of total unilateral cleft lip and palate. Suggested protocol].

    PubMed

    Simon, E; Duroure, F; Coing, C; Sellal, S; Chassagne, J F; Stricker, M

    2004-09-01

    Complete uni-lateral cleft palates resulting from failed union between internal and external nasal buds cause an imbalance of both superficial and deep nasal structures. After summarizing the principles that should guide the care of these anomalies, the authors present their therapeutic procedure, in which orthopaedic and surgical treatments are intimately associated. They conclude their presentation by emphasizing the difficulty of predicting the definitive result because of the extreme diversity of the sequellae that always accompany the treatment of cleft palates.

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

    PubMed

    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.

  17. Long-Term Treatment Outcome of Presurgical Nasoalveolar Molding in Patients With Unilateral Cleft Lip and Palate

    PubMed Central

    Clark, Stacey L.; Teichgraeber, John F.; Fleshman, Ruth G.; Shaw, Joi D.; Chavarria, Carmen; Kau, Chung-How; Gateno, Jaime; Xia, James J.

    2015-01-01

    Purpose The purpose of this study was to evaluate the long-term effectiveness of presurgical nasoalveolar molding (PNAM) in patients with unilateral cleft lip and palate (UCLP). Methods Twenty-five patients with UCLP treated by either PNAM or non-PNAM therapy between 1998 and 2003 were recruited in the study. During the clinical examination and data analysis, the evaluators were blinded to which patients received PNAM. The patients were reviewed clinically, and their facial morphology was captured with a three-dimensional scanner. Their dental arch configuration and occlusion were recorded by plaster dental models. After the patient evaluations and measurements were completed, the patient list was unblinded. There were 20 patients in the PNAM group and 5 patients in the non-PNAM group. Fisher exact tests and Wilcoxon rank sum tests were used to compare the outcomes. Results Clinically, the improvement in the PNAM group was most evident in nasal and lip anatomy. However, there were no statistically significant differences between the 2 groups on each of the measurements on three-dimensional facial images and dental models. Conclusions Our study suggests a trend toward a long-term clinical improvement in nasal and lip anatomy of UCLP patients treated with PNAM. However, these improved results were not confirmed by three-dimensional stereophotography. There was no statistically significant difference in the long-term three-dimensional anthropometric measurements and dental model analysis between the PNAM group and the non-PNAM group. PMID:21239929

  18. Botulinum Toxin to Improve Results in Cleft Lip Repair: A Double-Blinded, Randomized, Vehicle-Controlled Clinical Trial

    PubMed Central

    Chang, Chun-Shin; Wallace, Christopher Glenn; Hsiao, Yen-Chang; Chang, Chee-Jen; Chen, Philip Kuo-Ting

    2014-01-01

    Background Most patients with facial scarring would value even a slight improvement in scar quality. Botulinum toxin A is widely used to alleviate facial dynamic rhytides but is also believed to improve scar quality by reducing wound tension during healing. The main objective was to assess the effect of Botulinum toxin on scars resultant from standardized upper lip wounds. Methods In this double-blinded, randomized, vehicle-controlled, prospective clinical trial, 60 consecutive consenting adults undergoing cleft lip scar revision (CLSR) surgery between July 2010 and March 2012 were randomized to receive botulinum toxin A (n = 30) or vehicle (normal saline; n = 30) injections into the subjacent orbicularis oris muscle immediately after wound closure. Scars were independently assessed at 6-months follow-up in blinded fashion using: Vancouver Scar Scale (VSS), Visual Analogue Scale (VAS) and photographic plus ultrasound measurements of scar widths. Results 58 patients completed the trial. All scar assessment modalities revealed statistically significantly better scars in the experimental than the vehicle-control group. Conclusion Quality of surgical upper lip scars, which are oriented perpendicular to the direction of pull of the underlying orbicularis oris muscle, is significantly improved by its temporary paralysis during wound healing. Trial Registration ClinicalTrials.gov NCT01429402 PMID:25541942

  19. Frontonasal and fibrous dysplasia in a patient with unilateral cleft lip and palate.

    PubMed

    Weathers, William M; Wolfswinkel, Erik M; Albright, Steven B; Hollier, Larry H; Buchanan, Edward P

    2013-07-01

    Frontonasal dysplasia is a rare entity. It has characteristic physical deformities: hypertelorism, broad nasal root, median facial cleft of the upper lip or palate, clefting of the nasal alae, poorly formed nasal tip, cranium bifidum occultum, and a widow's peak hairline. Fibrous dysplasia is a benign bone tumor in which normal bone is replaced by fibrous, poorly formed osseus tissues. We present a patient with frontonasal dysplasia who desired correction of her hypertelorism. Incidentally, fibrous dysplasia was found in her left orbit complicating surgical correction. In addition, the patient has velopharyngeal insufficiency and a class III malocclusion. The interplay of all these craniofacial defects makes the sequencing and timing of surgery important in this unique patient.

  20. A bibliometric analysis of the 50 most cited papers in cleft lip and palate.

    PubMed

    Mahon, Nicola A; Joyce, Cormac W

    2015-02-01

    Citation analysis is an established bibliometric method which catalogues papers according to the number of times they have been referenced. It is believed that the total number of citations an article receives reflects its importance among its peers. Never before has a bibliometric analysis been performed in the area of Cleft Lip and Palate. Our citation analysis creates a comprehensive list of the 50 most influential papers in this field. Journals specializing in Cleft Palate, Craniofacial, Plastic Surgery, Maxillofacial Surgery, Aesthetics and Radiology were searched to establish which articles most enriched the specialty over the past 70 years. The results show an interesting collection of papers which reveal developing trends in surgical techniques. These landmark papers mould and influence management and decision-making today.

  1. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies - USP (HRAC-USP) - Part 2: Pediatric Dentistry and Orthodontics

    PubMed Central

    FREITAS, José Alberto de Souza; GARIB, Daniela Gamba; OLIVEIRA, Thais Marchini; LAURIS, Rita de Cássia Moura Carvalho; de ALMEIDA, Ana Lúcia Pompéia Fraga; NEVES, Lucimara Teixeira; TRINDADE-SUEDAM, Ivy Kiemle; YAEDÚ, Renato Yassutaka Faria; SOARES, Simone; PINTO, João Henrique Nogueira

    2012-01-01

    The aim of this article is to present the pediatric dentistry and orthodontic treatment protocol of rehabilitation of cleft lip and palate patients performed at the Hospital for Rehabilitation of Craniofacial Anomalies - University of São Paulo (HRAC-USP). Pediatric dentistry provides oral health information and should be able to follow the child with cleft lip and palate since the first months of life until establishment of the mixed dentition, craniofacial growth and dentition development. Orthodontic intervention starts in the mixed dentition, at 8-9 years of age, for preparing the maxillary arch for secondary bone graft procedure (SBGP). At this stage, rapid maxillary expansion is performed and a fixed palatal retainer is delivered before SBGP. When the permanent dentition is completed, comprehensive orthodontic treatment is initiated aiming tooth alignment and space closure. Maxillary permanent canines are commonly moved mesially in order to substitute absent maxillary lateral incisors. Patients with complete cleft lip and palate and poor midface growth will require orthognatic surgery for reaching adequate anteroposterior interarch relationship and good facial esthetics. PMID:22666849

  2. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies-USP (HRAC-USP)--part 2: pediatric dentistry and orthodontics.

    PubMed

    Freitas, José Alberto de Souza; Garib, Daniela Gamba; Oliveira, Marchini; Lauris, Rita de Cássia Moura Carvalho; Almeida, Ana Lúcia Pompéia Fraga de; Neves, Lucimara Teixeira; Trindade-Suedam, Ivy Kiemle; Yaedú, Renato Yassutaka Faria; Soares, Simone; Pinto, João Henrique Nogueira

    2012-01-01

    The aim of this article is to present the pediatric dentistry and orthodontic treatment protocol of rehabilitation of cleft lip and palate patients performed at the Hospital for Rehabilitation of Craniofacial Anomalies-University of São Paulo (HRAC-USP). Pediatric dentistry provides oral health information and should be able to follow the child with cleft lip and palate since the first months of life until establishment of the mixed dentition, craniofacial growth and dentition development. Orthodontic intervention starts in the mixed dentition, at 8-9 years of age, for preparing the maxillary arch for secondary bone graft procedure (SBGP). At this stage, rapid maxillary expansion is performed and a fixed palatal retainer is delivered before SBGP. When the permanent dentition is completed, comprehensive orthodontic treatment is initiated aiming tooth alignment and space closure. Maxillary permanent canines are commonly moved mesially in order to substitute absent maxillary lateral incisors. Patients with complete cleft lip and palate and poor midface growth will require orthognatic surgery for reaching adequate anteroposterior interarch relationship and good facial esthetics.

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

    PubMed Central

    Özdemir, Eylem

    2008-01-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2015-07-01

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

  6. Simplified design and precautionary measures in fabrication of a feeding obturator for a newborn with cleft lip and palate.

    PubMed

    Dubey, Alok; Mujoo, Sheetal; Khandelwal, Vishal; Nayak, Prathibha Anand

    2013-06-16

    The immediate problem to be addressed in a new born with cleft lip and palate is the interference of feeding. Here we present a case of cleft lip and palate for which a feeding obturator was made to facilitate feeding till the defect could be surgically repaired. The design was modified by placing orthodontic wire on the acrylic plate for attaching the ties of mouth mask. Different precautionary measures undertaken while making impression for infant have also been described. Feeding appliance improved the sucking ability of the infant. The attachment of mouth-mask ties help in easy retrieval of the obturator intraorally in case of airway obstruction.

  7. Simplified design and precautionary measures in fabrication of a feeding obturator for a newborn with cleft lip and palate

    PubMed Central

    Dubey, Alok; Mujoo, Sheetal; Khandelwal, Vishal; Nayak, Prathibha Anand

    2013-01-01

    The immediate problem to be addressed in a new born with cleft lip and palate is the interference of feeding. Here we present a case of cleft lip and palate for which a feeding obturator was made to facilitate feeding till the defect could be surgically repaired. The design was modified by placing orthodontic wire on the acrylic plate for attaching the ties of mouth mask. Different precautionary measures undertaken while making impression for infant have also been described. Feeding appliance improved the sucking ability of the infant. The attachment of mouth-mask ties help in easy retrieval of the obturator intraorally in case of airway obstruction. PMID:23774712

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

    PubMed

    Chancholle, A R; Saboye, J

    2000-11-01

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

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

    ERIC Educational Resources Information Center

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

    2011-01-01

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

  10. [The impact of cleft lip and palate on the parent-child relationships].

    PubMed

    Grollemund, B; Galliani, E; Soupre, V; Vazquez, M-P; Guedeney, A; Danion, A

    2010-09-01

    Cleft lips and palates (CLPs) are the most common human facial malformations. Depending on the ethnic and/or geographical origin of the studied populations, they can affect up to 1/500 newborns. The treatment of these patients is multidisciplinary because these malformations have not only aesthetic consequences but also functional consequences as the phonation, hearing, deglutition, mastication and ventilation are altered. These consequences can also be psychological since the building of the body image, the way others perceive it, is likely to be seriously altered. In Europe there are over 210 reference hospitals for children affected by CLP. Besides, about 190 different protocols were identified. So far no generic protocol was recognized by the medical community as a whole. This discrepancy can be explained by the fact that the aesthetic and functional result of a protocol cannot be accurately assessed before adulthood when the child's growth is complete. Patients presenting with CLP don't usually seem to present with any serious psychological or psychiatric pathology. Yet a close review of the related literature shows that disorders are actually described: behavioural troubles, anxiety, depression and esthetic dissatisfaction with one's face in children as well as in adults. The difficulty in interpreting these disorders lies in the various factors that are likely to impact this condition (family setting, importance and type of the cleft, surgery protocol, growth, social environment). A multidisciplinary examination of the face and a careful consideration of concerned families show the importance of the psychological context and the risks of a dis-harmonious structuring of the parents-child relationships on the child's development. The identification of the difficulties faced by these families, depending on the child's age, can be easily identified. Of course they can be identified at birth when the family first sees the child and later on at each stage of the

  11. Cephalometric comparison of early and late secondary bone grafting in the treatment of patients suffering from unilateral cleft lip and palate.

    PubMed

    Brudnicki, Andrzej; Sawicka, Ewa; Brudnicka, Renata; Fudalej, Piotr Stanisław

    2017-04-01

    The study was based on a retrospective cephalometric assessment of 10-year-olds in order to evaluate the influence of early secondary bone grafting on craniofacial development in patients suffering from non-syndromic complete unilateral cleft lip and palate. The study consisted of 79 patients in the early and 67 patients in the late secondary bone grafting group. The mean age at alveolar bone grafting was 2.5 years (SD 0.03) in the first group and 9.8 years (SD 2.3) in the second group. The primary cleft repair of these 146 patients was always performed in accordance with the one-stage method. Additionally, the non-cleft Control group was comprised of 56 children of the same ethnicity and age. The cephalometric analysis performed at age 10 revealed similar overall characteristics of observed growth disturbances in both cleft groups in comparison to the Control group, such as: inhibition of vertical and anterior maxillary development, the tendency of the mandible to rotate clockwise, and a prevalence of vertical over horizontal facial growth. The comparison between the cleft groups revealed a lack of growth differences in the vertical dimension and more pronounced anterior maxillary development inhibition in the early bone grafting group. This study will be followed by a similar evaluation after craniofacial development is complete by a significant number of these patients in order to ascertain our conclusions.

  12. SEARCH FOR GENOMIC ALTERATIONS IN MONOZYGOTIC TWINS DISCORDANT FOR CLEFT LIP AND/OR PALATE

    PubMed Central

    Kimani, Jane W.; Yoshiura, Koh-ichiro; Shi, Min; Jugessur, Astanand; Moretti-Ferreira, Danilo; Christensen, Kaare; Murray, Jeffrey C.

    2010-01-01

    Phenotypically discordant monozygotic twins offer the possibility of gene discovery through delineation of molecular abnormalities in one member of the twin pair. One proposed mechanism of discordance is postzygotically occurring genomic alterations resulting from mitotic recombination and other somatic changes. Detection of altered genomic fragments can reveal candidate gene loci that can be verified through additional analyses. We investigated this hypothesis using array comparative genomic hybridization; the 50K and 250K Affymetrix GeneChip® SNP arrays and an Illumina custom array consisting of 1,536 SNPs, to scan for genomic alterations in a sample of monozygotic twin pairs with discordant cleft lip and/or palate phenotypes. Paired analysis for deletions, amplifications and loss of heterozygosity, along with sequence verification of SNPs with discordant genotype calls did not reveal any genomic discordance between twin pairs in lymphocyte DNA samples. Our results demonstrate that postzygotic genomic alterations are not a common cause of monozygotic twin discordance for isolated cleft lip and/or palate. However, rare or balanced genomic alterations, tissue-specific events and small aberrations beyond the detection level of our experimental approach cannot be ruled out. The stability of genomes we observed in our study samples also suggests that detection of discordant events in other monozygotic twin pairs would be remarkable and of potential disease significance. PMID:19803774

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

    PubMed

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

    2016-01-01

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

  14. An Overview of Indices Used to Measure Treatment Effectiveness in Patients with Cleft Lip and Palate

    PubMed Central

    HAQUE, Sanjida; ALAM, Mohammad Khursheed; ARSHAD, Anas Imran

    2015-01-01

    In the contemporary era, the demand for orthodontic treatment is ever rising. Orthodontic treatment duration can range from a year to a few years. Our aim is to assess the available techniques of categorising treatment effectiveness in patients with cleft lip and palate (CLP) and to study their effect on improvement of treatment outcomes. The electronic databases including Medline-PUBMED, Science Direct, and ISI Web of Knowledge were searched from 1987 to 2013, and 40 311 relevant articles were found. Of these, we identified 22 articles including original articles as well as literature reviews. The different parameters and indices that are applied to speed-up orthodontic treatment outcomes in patients with CLP were identified as the GOSLON Yardstick, 5-year-old index, EUROCRAN index, Huddart Bodenham system, modified Huddart Bodenham system, GOAL Yardstick and, Bauru-Bilateral Cleft Lip and Palate Yardstick. This overview can create better awareness regarding the uses, advantages, and disadvantages of the different indices. It can enable better assessment and provide the impetus needed for a sustained upgrade in the standards of care for CLP in daily orthodontics. PMID:25892945

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

    PubMed

    Chang, Le; Wang, Yingnan; Liu, Hongyan

    2016-04-01

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

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

    PubMed

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

    2015-10-01

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

  17. The Role of the Velopharyngeal Sphincter in the Speech of Patients with Cleft Palate or Cleft Lip and Palate Using Perceptual Methods

    PubMed Central

    Georgievska-Jancheska, Tatjana; Gjorgova, Juliana; Popovska, Mirjana

    2016-01-01

    BACKGROUND: The velopharyngeal sphincter (VPS) plays the main role in speech formation. The cleft palate, due to the damage of the soft palate, leads to dysfunction of the velopharyngeal sphincter thus causing speech disorder. AIM: To establish a link between the nasal air escape and the perceptual symptoms in the speech of patients with cleft palate or cleft lip and palate using auditory-visual perceptual procedures for determining the influence the velopharyngeal dysfunction has on speech. MATERIAL AND METHODS: Twenty patients with speech disorders, out of which 10 have cleft palate or cleft lip and palate (experimental group), participated in the perceptual assessment by means of Czermak mirror fogging test for assessing the nasal air escape and Pittsburgh Weighted Speech Scale (PWSS) for assessing the probable nature of the velopharyngeal sphincter. RESULTS: The respondents with a considerable nasal air escape have a higher velopharyngeal inability, that is, probably incompetent nature of the velopharyngeal sphincter. There is a strong correlation between the nasal air escape and the probable nature of the velopharyngeal sphincter (the coefficient of linear correlation r = 0.9756). The calculated p-value is p = 0.000002. CONCLUSION: The perceptual speech symptoms and the nasal air escape provide unique insight into the state and role the velopharyngeal sphincter has in speech. PMID:28028412

  18. Tessier 30 Facial Cleft with Duplication of Tongue

    PubMed Central

    Goswami, Jayanta Kumar

    2017-01-01

    A case of midline cleft of the lower lip, mandible, and the neck with complete duplication of the tongue repaired at neonatal period is reported here. Median cleft of the lower lip, mandible, and bifid tongue with ankyloglossia is reported in the literature, but cleft of the neck with complete duplication of the tongue as a part of the Tessier 30 cleft is very rare. We could not find such report in the available English literature. PMID:28082778

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

    ERIC Educational Resources Information Center

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

    2012-01-01

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

  20. Treatment of a patient with a bilateral cleft lip and palate with implants and surgery of the maxillary anterior region.

    PubMed

    Batra, Panchali; Agrawal, Vikas; Kiran, H Jyothi; Madanagowda, Shivalinga Barsapur

    2010-01-01

    Caring for patients with bilateral cleft lips and palates requires an interdisciplinary approach. The treatment of such a patient is described. Therapy comprised maxillary expansion, mini-implant insertion, premaxillary osteotomy, and vomeroplasty, which led to a drastic improvement of the occlusion and facial appearance.

  1. A case report: corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation.

    PubMed

    Tütüncüoglu, S; Ozkinay, F; Genel, F; Uran, N; Ozgür, T

    1996-04-01

    In this report, a case with corpus callosum dysgenesis, infantile spasm, microcephaly, psychomotor retardation, exophthalmos, cleft lip-palate and abnormal EEG findings is presented. His parents are first-degree relatives. We could not fully match the findings of our patient with the criteria of any syndrome published to date.

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

    ERIC Educational Resources Information Center

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

    2011-01-01

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

  3. Toward a reconsideration of inclusion and exclusion criteria in cleft lip and palate: implications for psychological research.

    PubMed

    Feragen, Kristin Billaud; Stock, Nicola Marie; Rumsey, Nichola

    2014-09-01

    Background : This article investigates the prevalence of conditions that affect cognitive and/or psychosocial functioning in 10-year-old children born with a cleft lip and/or palate (CL/P) and explores how the presence of such additional difficulties may affect the reporting of outcomes in psychological research. Design : Cross-sectional data derived from routine psychological assessments. Setting : Centralized treatment, Norway. Participants : Data on cleft type and additional conditions were collected for 754 children with CL/P from 11 consecutive birth cohorts. Data on psychological adjustment were collected for three consecutive birth cohorts (n = 169). Main Outcome Measures : The Strengths and Difficulties Questionnaire (SDQ), completed by children and parents. Results : A total of 240 children (32%) in the sample had an additional condition, such as developmental delay, attention deficit/hyperactivity disorder, or a specific language impairment or dyslexia. Analysis of SDQ scores using conventional exclusion criteria (approach 1) was compared with a second method (approach 2), which included all children and categorized them according to the presence or absence of additional conditions. Significant variation in profiles of psychosocial adjustment was found depending on the approach to exclusion. Conclusions : The presence of additional conditions in a sample may affect results and subsequently the conclusions drawn in relation to the psychosocial adjustment of children born with CL/P. The present study emphasizes the importance of careful assessments and reporting of all associated conditions, in order to improve the understanding of the impact of a cleft and the consequences of associated conditions in this population.

  4. Cleft lip/palate and CDH1/E‐cadherin mutations in families with hereditary diffuse gastric cancer

    PubMed Central

    Frebourg, T; Oliveira, C; Hochain, P; Karam, R; Manouvrier, S; Graziadio, C; Vekemans, M; Hartmann, A; Baert‐Desurmont, S; Alexandre, C; Dumoulin, S Lejeune; Marroni, C; Martin, C; Castedo, S; Lovett, M; Winston, J; Machado, J C; Attié, T; Jabs, E W; Cai, J; Pellerin, Ph; Triboulet, J P; Scotte, M; Pessot, F Le; Hedouin, A; Carneiro, F; Blayau, M; Seruca, R

    2006-01-01

    We report the association of CDH1/E‐cadherin mutations with cleft lip, with or without cleft palate (CLP), in two families with hereditary diffuse gastric cancer (HDGC). In each family, the CDH1 mutation was a splicing mutation generating aberrant transcripts with an in‐frame deletion, removing the extracellular cadherin repeat domains involved in cell‐cell adhesion. Such transcripts might encode mutant proteins with trans‐dominant negative effects. We found that CDH1 is highly expressed at 4 and 5 weeks in the frontonasal prominence, and at 6 weeks in the lateral and medial nasal prominences of human embryos, and is therefore expressed during the critical stages of lip and palate development. These findings suggest that alteration of the E‐cadherin pathway can contribute to human clefting. PMID:15831593

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

    MedlinePlus

    ... of oral clefts. Q8. Does FDA have post marketing adverse event reports of oral clefts with topiramate? ... based on adverse reaction data from investigational or marketing experience or studies in humans, BUT the potential ...

  6. [Quantitative diagnosis of hypernasality in cleft lip and palate patients by computerized nasal quality assessment].

    PubMed

    Bressmann, T; Sader, R; Awan, S; Busch, R; Zeilhofer, H F; Horch, H H

    1999-05-01

    In patients with cleft lip and palate (CLP), the assessment of velopharyngeal morphology and function and the quantitative analysis of perceptual consequences of velopharyngeal insufficiency are of major importance regarding the effective planning of velopharyngoplasties for speech improvement. The NasalView, a new instrument for the objective assessment of rhinophonia, is presented. The NasalView measures nasalance, the relative sound pressure level of the nasal signal in speech, expressed as a percentage. In order to evaluate the effectiveness of the computerised measurement of nasalance, 156 patients with surgically treated CLP were examined. The NasalView differentiated with high sensitivity and specificity between patients with normal nasal resonance and patients with varying degrees of hypernasality. To illustrate the importance of the NasalView for making the decision for a velopharyngoplasty, a single case is presented.

  7. Distraction or orthognathic surgery for cleft lip and palate patients: which is better?

    PubMed

    Cheung, L K; Chua, Hannah Daile P

    2008-06-01

    Maxillary deformities of cleft lip and palate (CLP) can be treated by either conventional osteotomies (CO) or distraction osteogenesis (DO). Which one is better for CLP patients suffering from a moderate extent of maxillary hypoplasia? The aim of the study was to evaluate the treatment outcomes of CO and compared with DO in correction of moderate maxillary hypoplasia. The results showed that CLP patients receiving DO were more anxious and depressed during the first three months but became happier in the long-term. The nasalance of DO and CO was found to be similar. However, on the skeletal stability, DO was shown to be significantly more stable when compared with CO in the horizontal plane within the first six months and in vertical plane during the first three months and between 1-2 year.

  8. [Interdisciplinary orthodontic surgical treatment of children with cleft lip and palate from 9 to 20 years of age].

    PubMed

    Kuijpers-Jagtman, A M; Mink van der Molen, A B; Bierenbroodspot, F; Borstlap, W A

    2015-11-01

    Cleft lip and palate is a common congenital malformation with a prevalence of 1:600 newborns. Children with orofacial clefts are treated by an interdisciplinary team of specialists while parents and child play a key role in their own care process. The orthodontic and facial orthopedic treatment of a child with a cleft takes many years. Children often get bored of the long treatment and this can cause problems with compliance and oral hygiene. Therefore it is advisable to distinguish 5 well-defined stages in the orthodontic treatment and to attempt to have some 'orthodontics free' time in between. The 3 orthodontic treatment phases between the age of 9 and 20 years consist of orthodontic treatment concerning the closing of the cleft with a bone transplant, the treatment of the permanent dentition and, finally, a possible combined orthodontic surgical treatment at the end of the period of growth. Good interdisciplinary collaboration among the different dental disciplines is essential in this regard.

  9. Presurgical nasoalveolar molding: A boon to facilitate the surgical repair in infants with cleft lip and palate

    PubMed Central

    Attiguppe, Prabhakar Ramasetty; Karuna, Y. M.; Yavagal, Chandrashekar; Naik, Saraswathi V.; Deepak, B. M.; Maganti, Rekhamani; Krishna, Chaithanya G.

    2016-01-01

    Cleft lip and palate (CLP) is the most common congenital craniofacial anomaly. Rehabilitation of CLP generally requires a team approach. Alveolar and nasal reconstruction for these patients is a challenge for the reconstructive surgeon. Various procedures have been attempted to reduce the cleft gap, so as to obtain esthetic results postsurgically. The presurgical nasoalveolar molding (PNAM) technique, developed by Grayson, is a new approach to presurgical infant orthopedics. PNAM reduces the severity of the initial cleft alveolar and nasal deformity. Thus, it enables the surgeon and the patient to enjoy the benefits associated with repair of a cleft deformity that is minimal in severity. This article presents a brief insight into PNAM with a case series of three different cases (one unilateral and two bilateral) which underwent PNAM treatment and gave an excellent surgical prognosis. PMID:27994432

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

    PubMed

    Semb, Gunvor

    2014-11-01

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

  11. Craniofacial characteristics and velopharyngeal function in cleft lip/palate children with and without adenoidectomy.

    PubMed

    Pulkkinen, Joonas; Ranta, Reijo; Heliövaara, Arja; Haapanen, Marja-Leena

    2002-02-01

    The association between velopharyngeal function, craniofacial morphology and adenoidectomy was investigated using 27 craniofacial and nasopharyngeal variables taken from lateral cephalograms. The sample consisted of 96 boys with cleft palates with or without cleft lips. They were examined at 6 years of age when cephalograms were obtained and perceptual speech assessments were performed. The subjects were divided into three groups: (1) velopharyngeal competence (VPC, n = 45); (2) mild incompetence not requiring velopharyngoplasty (VPI, n = 36); and (3) previous incompetence operated on with velopharyngoplasty ad modum Hoenig (VPP, n = 15) before the 6-year examination. The groups were further divided into two subgroups according to previous adenoidectomy (Ad+, Ad-). The cranial base, size and interrelationship of the maxilla and mandible and their relationship to the cranial base or the bony nasopharynx did not differ among the VPC, VPI and VPP groups. The sagittal depth of the nasopharyngeal airway (Pm-ad1, Pm-ad2, Pm-ad3) was significantly wider in the VPP group than in the the VPC and VPI groups. The previous adenoidectomy decreased the thickness of the posterior pharyngeal wall (ad1-Ba, ad2-so) and thus increased airway size. The length of the velum did not differ between the three groups or their subgroups with and without adenoidectomy. The results showed that adenoidectomy is a risk to velopharyngeal function by widening the nasal airway, but velopharyngeal incompetence cannot definitely be attributed to adenoidectomy.

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

    SciTech Connect

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

    1994-09-01

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

  13. CRISPLD2 VARIANTS INCLUDING A C471T SILENT MUTATION MAY CONTRIBUTE TO NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE

    PubMed Central

    Letra, Ariadne; Menezes, Renato; Cooper, Margaret E.; Fonseca, Renata F.; Tropp, Stephen; Govil, Manika; Granjeiro, Jose M.; Imoehl, Sandra R.; Mansilla, M. Adela; Murray, Jeffrey C.; Castilla, Eduardo E.; Orioli, Iêda M.; Czeizel, Andrew E.; Ma, Lian; Chiquet, Brett T.; Student, Dental; Hecht, Jacqueline T.; Vieira, Alexandre R.; Marazita, Mary L.

    2010-01-01

    Objective To assess association between nonsyndromic (NS) cleft lip with or without cleft palate (CL(P)) and SNPs within the CRISPLD2 gene (cysteine-rich secretory protein LCCL domain containing 2). Design Four SNPs within the CRISPLD2 gene domain (rs1546124, rs8061351, rs2326398, rs4783099) were genotyped to test for association via family-based association methods. Participants 5,826 individuals from 1,331 families in which one or more family member is affected with CL(P). Results Evidence of association was seen for SNP rs1546124 in USA (p=0.02) and Brazilian (p=0.04) Caucasian cohorts. We also found association of SNP rs1546124 with cleft palate alone (CP) in South Americans (Guatemala and ECLAMC) and combined Hispanics (Guatemala, ECLAMC and Texas Hispanics) (p=0.03 for both comparisons), and with both cleft lip with cleft palate (CLP; p=0.04) and CL(P) (p=0.02) in North Americans. Strong evidence of association was found for SNP rs2326398 with CP in Asian populations (p=0.003) and with CL(P) in Hispanics (p=0.03), and also with bilateral CL(P) in the Brazilians (p=0.004). In the Brazilians, SNP rs8061351 showed association with cleft subgroups incomplete CL(P) (p=0.004), and unilateral incomplete CL(P) (p=0.003). Prediction of SNP functionality revealed that the C allele in the C471T silent mutation (overrepresented in cases with CL(P) presents two putative exonic splicing enhancer motifs and creates a binding site AP-2 alpha, a transcription factor involved in craniofacial development. Conclusions Our results support the hypothesis that variants in the CRISPLD2 gene may be involved in the etiology of NS CL(P). PMID:20815724

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

    PubMed

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

    2014-10-01

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

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

    PubMed Central

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

    2014-01-01

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

  16. Nasal Airway Evaluation After Le Fort I Osteotomy Combined With Septoplasty in Patients With Cleft Lip and Palate.

    PubMed

    Wang, Zhongying; Wang, Peihua; Zhang, Yixin; Shen, Guofang

    2017-01-01

    Septal deviation constitutes an important component of both esthetic deformity and airway compromise in patients with cleft lip and palate (CLP). The posterior parts of the nasal septum presented greater deviation than the anterior parts in patients with complete unilateral CLP. Le Fort I down-fracture provides better access to the nasal septum than intranasal incision during rhinoplasty, especially to the posterior part. This study objectively and subjectively evaluated the nasal function after Le Fort I osteotomy combined with septoplasty in patients with complete unilateral CLP. Twenty-three patients with complete unilateral CLP presenting with nasal obstruction and septum deviation were included (12-combined surgery group; 11-control group). Types of septum deviation in the patients were analyzed. Presurgical and 6-month-postsurgical acoustic rhinometry (AR) was performed for objective assessment; and the nasal obstruction symptom evaluation (NOSE) scale was used for subjective assessment. The authors used SPSS to compare the baseline and follow-up results. Acoustic rhinometry assessment showed improvements in the nasal minimal cross-sectional area (MCA), nasal resistance, and nasal volumes in 12 patients who received combined surgery. For the 2 groups, significant improvements in nasal breathing were documented (by NOSE scores) at 6 months after surgery. Simultaneous management of the maxillary dysplasia (Le Fort I osteotomy) and intranasal pathology (septoplasty) were effective for relief of nasal airway obstruction in patients with complete unilateral CLP. The combination of objective (AR) and subjective (NOSE scale) assessments allowed better evaluation of the nasal function.

  17. 3D evaluation of maxillary arches in unilateral cleft lip and palate patients treated with nasoalveolar moulding vs. Hotz's plate.

    PubMed

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

    2016-02-01

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed Central

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

    2013-01-01

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

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

    PubMed Central

    Paiva, Tatiana Saito; Andre, Marcia

    2012-01-01

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

  1. Assessment of cleft lip and palate patients treated with presurgical orthopedic correction and either primary bone grafts, gingivoperiosteoplasty, or without alveolar grafting procedures.

    PubMed

    Grisius, Thomas M; Spolyar, John; Jackson, Ian T; Bello-Rojas, Gustavo; Dajani, Khaled

    2006-05-01

    The effects of alveolar grafting on the development of the craniofacial complex have been reported by numerous investigators. The reported results vary in the literature from significant to very little impediment of maxillary growth. The present work evaluates and compares facial form at age six years in complete unilateral cleft lip and palate patients treated with presurgical orthopedic correction and primary reconstruction with (1) primary bone grafts (n = 14), (2) gingivoperiosteoplasty (n = II), or (3) without alveolar grafting procedures at the time of lip repair (n = 13). The cohort groups were analyzed with a one-way analysis of variance (ANOV A). Statistical analysis revealed significant differences between the three groups for only one of the 12 parameters analyzed. The primary bone grafted group demonstrated less vertical descent-of the anterior maxilla compared to the gingivoperiosteoplasty and non-grafted groups (P = .0027).

  2. Increased caries prevalence in 2.5-year-old children with cleft lip and/or palate.

    PubMed

    Bokhout, B; Hofman, F X; van Limbeek, J; Kramer, G J; Prahl-Andersen, B

    1996-01-01

    The prevalence of dental caries was determined clinically in 2.5-year-old Dutch cleft lip and/or palate children (n = 76) and in children without congenital malformation (n = 75). The parents were given a structured questionnaire regarding the child's dietary habits, oral hygiene, fluoride exposure and social economic background. The prevalence of dental caries was higher in children with oral cleft than in children without oral cleft. Initial caries (white spots) was diagnosed in 17.1% of the subjects with oral cleft compared with 4.0% of the control subjects. Manifest caries (cavities) was found in 26.3% of the children with oral cleft compared with 5.3% of the controls. The dft score (manifest caries) was significantly higher for the oral cleft group (0.59 +/- 1.35) than for the control group (0.11 +/- 0.54). 52% of the total number of initial and manifest lesions were localized to the maxillary incisors. A multivariate analysis yielded initial caries, oral hygiene and treatment with preoperative infant orthopaedics as the variables significantly associated with manifest caries.

  3. The effect of muscle repair on postoperative facial skeletal growth in children with bilateral cleft lip and palate.

    PubMed

    Nagase, T; Januszkiewicz, J S; Keall, H J; de Geus, J J

    1998-12-01

    The effect of orbicularis muscle repair on postoperative facial skeletal growth in bilateral cleft lip and palate patients was studied by analysis of cephalometric radiographs and dental casts. Sixty-two patients operated on between 1961-1989 were selected for the study. They were divided into three groups, group 1a (muscle repair; n = 12), group 1b (failed attempt at muscle repair; n = 5), and group 2 (no attempt at muscle repair; n = 45). Comparison of the morphological measurements among these three groups showed that there was a trend towards crossbite in the muscle repair group, but this difference was not significant. Mechanisms by which muscle repair might influence maxillofacial skeletal growth include the possibility that the area around the nasal septum might be the growth centre. The choice of operative technique in bilateral cleft lip and palate should be important.

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

    PubMed

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

    2012-02-01

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

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

    PubMed

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

    2014-04-01

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

  6. Gene Interactions Provide Evidence for Signaling Pathways Involved in Cleft Lip/Palate in Humans.

    PubMed

    Velázquez-Aragón, J A; Alcántara-Ortigoza, M A; Estandia-Ortega, B; Reyna-Fabián, M E; Méndez-Adame, C D; González-Del Angel, A

    2016-10-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common craniofacial birth defect that has a complex etiology. Genome-wide association studies have recently identified new loci associated with NSCL/P, but these loci have not been analyzed in a Mexican Mestizo population. A complex etiology implies the presence of genetic interactions, but there is little available information regarding this in NSCL/P, and no signaling pathway has been clearly implicated in humans. Here, we analyzed the associations of 24 single nucleotide polymorphisms (SNPs) with NSCL/P in a Mexican Mestizo population (133 cases, 263 controls). The multifactorial dimensionality reduction method was used to examine gene-gene and gene-folic acid consumption interactions for the 24 SNPs analyzed in this study and for 2 additional SNPs that had previously been genotyped in the same study population. Six SNPs located in paired box 7, ventral anterior homeobox 1, sprouty RTK signaling antagonist 2, bone morphogenetic protein 4, and tropomyosin 1 genes were associated with higher risks of NSCL/P (P = 0.0001 to 0.04); 2 SNPs, 1 each in netrin 1 and V-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B, were associated with a lower risk of NSCL/P (P = 0.013 to 0.03); and 2 SNPs, 1 each in ATP binding cassette subfamily A member 4 (ABCA4) and noggin, showed associations with NSCL/P that approached the threshold of significance (P = 0.056 to 0.07). In addition, 6 gene-gene interactions (P = 0.0001 to 0.001) and an ABCA4-folic acid consumption interaction (P < 0.0001) were identified. On the basis of these results, combined with those of previous association studies in the literature and biological characterizations of murine models, we propose an interaction network in which interferon regulatory factor 6 plays a central role in the etiology of NSCL/P.

  7. Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.

    PubMed

    Pengelly, R J; Upstill-Goddard, R; Arias, L; Martinez, J; Gibson, J; Knut, M; Collins, A L; Ennis, S; Collins, A; Briceno, I

    2015-11-01

    Individuals from three families ascertained in Bogota, Colombia, showing syndromic phenotypes, including cleft lip and/or palate, were exome-sequenced. In each case, sequencing revealed the underlying causal variation confirming or establishing diagnoses. The findings include very rare and novel variants providing insights into genotype and phenotype relationships. These include the molecular diagnosis of an individual with Nager syndrome and a family exhibiting an atypical incontinentia pigmenti phenotype with a missense mutation in IKBKG. IKBKG mutations are typically associated with preterm male death, but this variant is associated with survival for 8-15 days. The third family exhibits unusual phenotypic features and the proband received a provisional diagnosis of Pierre Robin sequence (PRS). Affected individuals share a novel deleterious mutation in IRF6. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndrome and contribute to nonsyndromic cleft lip phenotypes but have not previously been associated with a PRS phenotype. Exome sequencing followed by in silico screening to identify candidate causal variant(s), and functional assay in some cases offers a powerful route to establishing molecular diagnoses. This approach is invaluable for conditions showing phenotypic and/or genetic heterogeneity including cleft lip and/or palate phenotypes where many underlying causal genes have not been identified.

  8. A 20 year audit of nose-tip symmetry in patients with unilateral cleft lip and palate.

    PubMed

    Timoney, N; Smith, G; Pigott, R W

    2001-06-01

    The purpose of this study was to audit the process and outcome in terms of nasal-tip symmetry of the first 20 patients with unilateral complete cleft lip and palate treated by the Pigott alar leapfrog primary nasal correction in the early 1970s and followed for 20 years. Symmetry was assessed using the Coghlan computer-based analysis of frontal and basal views to determine the stability of the correction. The Abyholm technique of alveolar bone grafting was performed in 12 of the 20 patients. Various other secondary procedures have been performed on the nose tip and septum to improve the airway or appearance. Photographs were taken within one year of ages 5, 10, 15 and 20 years, and the lower border of the nose, the alar domes and the nostrils were assessed. To assess the overall change from 5 years to 20 years, both views were available for 17 patients. No significant change was found in the lower border or nostril symmetry, but significant deterioration at the P< 0.01 level was found on the basal view. We assessed the 10, 15 and 20 year views of all 12 patients who had undergone alveolar bone grafting to determine early and late changes. No significant benefit was found from alveolar bone grafting or minor secondary procedures for appearance. Consequently, our criteria for undertaking minor adjustments to improve appearance have become more stringent. We consider that objective reporting of appearance should become essential in peer-reviewed journals.

  9. Anterior maxillary segmental distraction in the treatment of severe maxillary hypoplasia secondary to cleft lip and palate

    PubMed Central

    Li, Hongliang; Dai, Jiewen; Si, Jiawen; Zhang, Jianfei; Wang, Minjiao; Shen, Steve Guofang; Yu, Hongbo

    2015-01-01

    Anterior maxillary segmental distraction (AMSD) is an effective surgical procedure in the treatment of maxillary hypoplasia secondary to cleft lip and palate. Its unique advantage of preserving velopharyngeal function makes this procedure widely applied. In this study, the application of AMSD was described and its long-term stability was explored. Eight patients with severe maxillary hypoplasia secondary to CLP were included in this study. They were treated with AMSD using rigid external distraction (RED) device. Cephalometric analysis was performed twice at three time points for evaluation: before surgery (T1), after distraction (T2), and 2 years after treatment (T3). One-way analysis of variance was used to assess the differences statistically. All the distractions completed smoothly, and maxilla was distracted efficiently. The value of SNA, NA-FH, Ptm-A, U1-PP, overjet and PP (ANS-PNS) increased significantly after the AMSD procedure (P < 0.05), with the mean overjet increased by 14.28 mm. However, comparison of cephalometric analysis between T2 and T3 showed no significant difference (P > 0.05). Changes of palatopharyngeal depth and soft palatal length were insignificant. AMSD with RED device provided an effective way to correct maxillary hypoplasia secondary to CLP, extended the palatal and arch length, avoided damage on velopharyngeal closure function and reduced the relapse rate. It is a promising and valuable technique in this potentially complicated procedure. PMID:26629107

  10. Proteomic Analysis of RBP4/Vitamin A in Children with Cleft Lip and/or Palate.

    PubMed

    Zhang, J; Zhou, S; Zhang, Q; Feng, S; Chen, Y; Zheng, H; Wang, X; Zhao, W; Zhang, T; Zhou, Y; Deng, H; Lin, J; Chen, F

    2014-06-01

    Cleft of the lip and/or palate (CLP) is one of the most common congenital craniofacial defects. Non-syndromic CLP (NSCLP) is a multifactorial disease influenced by the interaction of genetic and environmental factors. However, there are few studies reporting on the developmental or metabolic status of babies with NSCLP after birth. In our study, we sought to identify and evaluate the differential expression of serum protein profiles in NSCLP children and unaffected babies. Thus, a 'shotgun proteomics' approach was first used to analyze the plasma proteome of 13 children with NSCLP and 10 control children, aged 2 to 3.5 years. In total, more than 300 proteins were identified in the serum sample. With gene ontology (GO) analysis, we detected many differentially expressed proteins that could be related to NSCLP, including those involved in lipoprotein metabolism, insulin-like growth-factor-related processes, and so on, especially the proteins involved in retinol transport. Retinol binding protein 4 (RBP4), one protein of the retinol transport category, was significantly decreased in the NSCLP group. Thus, serum vitamin A levels were further determined by high-performance liquid chromatography (HPLC). A significant difference (p < .01) was also found in vitamin A concentrations, consistent with the trend of RBP4. Our results indicated that reduced levels of RBP4 and vitamin A were related to newborns with NSCLP and should thus receive more attention. These results also suggest that vitamin A supplementation might be necessary at an early stage.

  11. [Bilateral cleft lip and palate. Anatomic and clinical characteristics and therapeutic results].

    PubMed

    Morand, B; Raphaël, B

    2004-09-01

    Treatment teams that conceive and nourish their ideas in a multi-disciplinary environment are best suited to elaborate therapeutic protocols. Their concepts should be based on consistent evaluation of their treatment results as documented by precise and reproducible records. In the wide array of maxillo-facial anatomical deformities presented clinically, bilateral cleft lips and palates are the rarest (20%), but they are also the most serious because of the inherent disconnection of maxillary structures that accompanies them and because of the grave disturbances they inflict on the development of the middle third of the face. Surgeons have devised an extraordinary gamut of protocols to correct these disorders and then abandoned them because of the problematical and ephemeral results they provided. The authors, after evaluating their own results, modified their therapeutic approach in 1994. They present their current protocol, which calls for an orthopedic phase carried out when the patient is 2 months old and two surgical phases when the patient is 3 and then 7 months old.

  12. [A case of cleft lip and palate patient with basilar impression].

    PubMed

    Kondo, T; Iwata, R; Fuwa, Y; Goto, S

    1990-04-01

    Basilar impression is one of bony deformities occurred in the region of the foramen magnum, in which deformity, rim of the foramen magnum or a part of the vertebra impresses into the posterior cranial fossa. Major symptoms of this deformity are short neck, low hair line, torticollis, webbing of neck, pain and limitation of neck movement and various nerve symptoms, when nervous tissue is impressed by rim of the foramen magnum or dens of the second vertebra. This deformity has a characteristic to be found later as a congenital deformity, because nerve symptoms usually do not occur in earlier than 10 years old. The patient was 7 years and 8 months old at his initial visit, whose chief complaint was rotation of upper central incisors which created chewing disorder. When he became 12 years old, because he was taken palsy, walking disturbance, and neck pain in movement, neurosurgery was planned immediately. Edgewise appliance was, then, removed, and orthodontic treatment had to be discontinued until he left hospital. A case was reported of the problems in orthodontic treatment and characteristic of this deformity through our experience for this cleft lip and palate patient with basilar impression in addition to other reports about this deformity.

  13. Fracture of the Vomero-Premaxillary Junction in a Repaired Bilateral Cleft Lip and Palate Patient

    PubMed Central

    Zwahlen, Roger Arthur; Jayaratne, Yasas Shri Nalaka; Htun, Su Yin; Bütow, Kurt-Wilhelm

    2014-01-01

    Although dental trauma is common in bilateral cleft lip and palate (BCLP), patients' reports on bony fractures of the vomero-premaxillary junction cannot be found. The aim of this report is to illustrate clinical findings and the technique of fracture fixation in a child suffering from a fractured vomero-premaxillary junction as well as subsequent columella lengthening. A 4-year-old girl with a repaired BCLP presented with an open mucosal laceration and fractured vomero-premaxillary junction. Open reduction and fixation of the dislocated premaxilla was performed under general anesthesia. Fractured bone pieces of the vomero-premaxillary junction were removed and sharp bone edges at the vomer and the premaxilla were grinded. The repositioned premaxilla was fixed to the lateral alveolar arches with two mucoperiosteal sutures on each side. Additional columella lengthening was performed 2 years later. All family members were very happy about the new aesthetics of the girl. Although rare, fractures of the vomero-premaxillary junction present several challenges to clinicians related to anatomical, physiological, and psychological issues. Immediate and minimal invasive treatment strategies are recommended when managing such cases. PMID:25383152

  14. Maxilla dimension in patients with unilateral and bilateral cleft lip and palate. Changes from birth until palate surgery at age three.

    PubMed

    Opitz, C; Kratzsch, H

    1997-01-01

    This study traces the changes in maxillary dimension in 44 unilateral cleft lip and palate (UCLP) patients and 28 bilateral cleft lip and palate (BCLP) patients from birth up to the time of palate surgery at age 3. Measurements on dental casts were carried out at 4 defined registration stages. The results revealed a continuous reduction in cleft dimension parallel to an increase in the transversal and sagittal maxillary dimensions. The inclination of the palatal slope displayed such a high degree of variability that no statement regarding the development in this variable could be made. Differences between the 2 types of cleft patients were found only in the maxillary sagittal dimension. Wearing an orthopedic plate after surgery appears to prevent transversal collapse in the anterior region and to counteract external transversal and sagittal forces. Only temporary inhibition of growth in the sagittal dimension of the maxilla was observed after lip surgery.

  15. Characterization of subtle brain abnormalities in a mouse model of Hedgehog pathway antagonist-induced cleft lip and palate.

    PubMed

    Lipinski, Robert J; Holloway, Hunter T; O'Leary-Moore, Shonagh K; Ament, Jacob J; Pecevich, Stephen J; Cofer, Gary P; Budin, Francois; Everson, Joshua L; Johnson, G Allan; Sulik, Kathleen K

    2014-01-01

    Subtle behavioral and cognitive deficits have been documented in patient cohorts with orofacial clefts (OFCs). Recent neuroimaging studies argue that these traits are associated with structural brain abnormalities but have been limited to adolescent and adult populations where brain plasticity during infancy and childhood may be a confounding factor. Here, we employed high resolution magnetic resonance microscopy to examine primary brain morphology in a mouse model of OFCs. Transient in utero exposure to the Hedgehog (Hh) signaling pathway antagonist cyclopamine resulted in a spectrum of facial dysmorphology, including unilateral and bilateral cleft lip and palate, cleft of the secondary palate only, and a non-cleft phenotype marked by midfacial hypoplasia. Relative to controls, cyclopamine-exposed fetuses exhibited volumetric differences in several brain regions, including hypoplasia of the pituitary gland and olfactory bulbs, hyperplasia of the forebrain septal region, and expansion of the third ventricle. However, in affected fetuses the corpus callosum was intact and normal division of the forebrain was observed. This argues that temporally-specific Hh signaling perturbation can result in typical appearing OFCs in the absence of holoprosencephaly--a condition classically associated with Hh pathway inhibition and frequently co-occurring with OFCs. Supporting the premise that some forms of OFCs co-occur with subtle brain malformations, these results provide a possible ontological basis for traits identified in clinical populations. They also argue in favor of future investigations into genetic and/or environmental modulation of the Hh pathway in the etiopathogenesis of orofacial clefting.

  16. Aesthetic outcome of cleft lip and palate treatment. Perceptions of patients, families, and health professionals compared to the general public.

    PubMed

    Gkantidis, Nikolaos; Papamanou, Despina A; Christou, Panagiotis; Topouzelis, Nikolaos

    2013-10-01

    The aesthetic outcome of cleft treatment is of great importance due to its complex management and the psychosocial consequences of this defect. The aim of the study was to assess the aesthetic evaluations of patients following cleft surgery by various groups and investigate potential associations of the assessments with life quality parameters. Head photos of 12 adult patients with treated unilateral cleft lip and palate were evaluated by laypeople and professionals. A questionnaire was distributed and answered by the patients and their parents. Intra-panel agreement was high (α > 0.8) for laypeople and professionals. Between-groups agreement was high for both laypeople and professionals, but not when patients and/or parents were tested. Professionals, parents, and patients were more satisfied with patients' appearance than laypeople, although in general all groups were not highly satisfied. Low satisfaction with aesthetics correlated with increased self-reported influence of the cleft in the patients' social activity and professional life (0.56 < rho < 0.74, p < 0.05). These findings highlight the observed negative influence of the cleft on the patient's social activity and professional life and underline the need for the highest quality of surgical outcome for this group of patients.

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

    PubMed Central

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

    2016-01-01

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

  18. An Opportunity for Diagonal Development in Global Surgery: Cleft Lip and Palate Care in Resource-Limited Settings

    PubMed Central

    Patel, Pratik B.; Hoyler, Marguerite; Maine, Rebecca; Hughes, Christopher D.; Hagander, Lars; Meara, John G.

    2012-01-01

    Global cleft surgery missions have provided much-needed care to millions of poor patients worldwide. Still, surgical capacity in low- and middle-income countries is generally inadequate. Through surgical missions, global cleft care has largely ascribed to a vertical model of healthcare delivery, which is disease specific, and tends to deliver services parallel to, but not necessarily within, the local healthcare system. The vertical model has been used to address infectious diseases as well as humanitarian emergencies. By contrast, a horizontal model for healthcare delivery tends to focus on long-term investments in public health infrastructure and human capital and has less often been implemented by humanitarian groups for a variety of reasons. As surgical care is an integral component of basic healthcare, the plastic surgery community must challenge itself to address the burden of specific disease entities, such as cleft lip and palate, in a way that sustainably expands and enriches global surgical care as a whole. In this paper, we describe a diagonal care delivery model, whereby cleft missions can enrich surgical capacity through integration into sustainable, local care delivery systems. Furthermore, we examine the applications of diagonal development to cleft care specifically and global surgical care more broadly. PMID:23316355

  19. Characterization of Subtle Brain Abnormalities in a Mouse Model of Hedgehog Pathway Antagonist-Induced Cleft Lip and Palate

    PubMed Central

    Lipinski, Robert J.; Holloway, Hunter T.; O'Leary-Moore, Shonagh K.; Ament, Jacob J.; Pecevich, Stephen J.; Cofer, Gary P.; Budin, Francois; Everson, Joshua L.; Johnson, G. Allan; Sulik, Kathleen K.

    2014-01-01

    Subtle behavioral and cognitive deficits have been documented in patient cohorts with orofacial clefts (OFCs). Recent neuroimaging studies argue that these traits are associated with structural brain abnormalities but have been limited to adolescent and adult populations where brain plasticity during infancy and childhood may be a confounding factor. Here, we employed high resolution magnetic resonance microscopy to examine primary brain morphology in a mouse model of OFCs. Transient in utero exposure to the Hedgehog (Hh) signaling pathway antagonist cyclopamine resulted in a spectrum of facial dysmorphology, including unilateral and bilateral cleft lip and palate, cleft of the secondary palate only, and a non-cleft phenotype marked by midfacial hypoplasia. Relative to controls, cyclopamine-exposed fetuses exhibited volumetric differences in several brain regions, including hypoplasia of the pituitary gland and olfactory bulbs, hyperplasia of the forebrain septal region, and expansion of the third ventricle. However, in affected fetuses the corpus callosum was intact and normal division of the forebrain was observed. This argues that temporally-specific Hh signaling perturbation can result in typical appearing OFCs in the absence of holoprosencephaly—a condition classically associated with Hh pathway inhibition and frequently co-occurring with OFCs. Supporting the premise that some forms of OFCs co-occur with subtle brain malformations, these results provide a possible ontological basis for traits identified in clinical populations. They also argue in favor of future investigations into genetic and/or environmental modulation of the Hh pathway in the etiopathogenesis of orofacial clefting. PMID:25047453

  20. Nasal Airway Evaluation After Le Fort I Osteotomy Combined With Septoplasty in Patients With Cleft Lip and Palate

    PubMed Central

    Wang, Zhongying; Wang, Peihua; Zhang, Yixin; Shen, Guofang

    2017-01-01

    Abstract Septal deviation constitutes an important component of both esthetic deformity and airway compromise in patients with cleft lip and palate (CLP). The posterior parts of the nasal septum presented greater deviation than the anterior parts in patients with complete unilateral CLP. Le Fort I down-fracture provides better access to the nasal septum than intranasal incision during rhinoplasty, especially to the posterior part. This study objectively and subjectively evaluated the nasal function after Le Fort I osteotomy combined with septoplasty in patients with complete unilateral CLP. Twenty-three patients with complete unilateral CLP presenting with nasal obstruction and septum deviation were included (12—combined surgery group; 11—control group). Types of septum deviation in the patients were analyzed. Presurgical and 6-month-postsurgical acoustic rhinometry (AR) was performed for objective assessment; and the nasal obstruction symptom evaluation (NOSE) scale was used for subjective assessment. The authors used SPSS to compare the baseline and follow-up results. Acoustic rhinometry assessment showed improvements in the nasal minimal cross-sectional area (MCA), nasal resistance, and nasal volumes in 12 patients who received combined surgery. For the 2 groups, significant improvements in nasal breathing were documented (by NOSE scores) at 6 months after surgery. Simultaneous management of the maxillary dysplasia (Le Fort I osteotomy) and intranasal pathology (septoplasty) were effective for relief of nasal airway obstruction in patients with complete unilateral CLP. The combination of objective (AR) and subjective (NOSE scale) assessments allowed better evaluation of the nasal function. PMID:27930464

  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

    PubMed Central

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

    2015-01-01

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

  2. Exposure of Cleft Lip and Palate Patients to Toxic Elements Released during Orthodontic Treatment in the Study of Non-Invasive Matrices

    PubMed Central

    Mikulewicz, Marcin; Kachniarz, Krzysztof; Chojnacka, Katarzyna

    2015-01-01

    The Objective The aim of the study was evaluation of metal ions (nickel and chromium) released from orthodontic appliances in cleft lip and palate patients and the usefulness of non-invasive matrices (saliva and hair). Materials and Methods The material studied consisted of 100 individuals, including 59 females and 41 males of 5 to 16 years of age, which were divided into 3 groups: experimental–patients with cleft lip and palate (36 individuals, the average treatment time 5.74 years); control group–patients without cleft lip and palate, during orthodontic treatment (32 individuals, the average treatment time 1.78 years) and the control group patients without cleft lip and palate, without any orthodontic appliances (32 individuals). Samples (saliva, hair) were collected and subjects underwent a survey by questionnaire. Multi-elemental analyses of the composition of non-invasive matrices was conducted in an accredited laboratory by inductively coupled plasma spectrometry technique ICP-OES. The results were reported as mean contents of particular elements (Cd, Cr, Cu, Fe, Mn, Mo, Ni, Si) in hair and in saliva. Results The concentration of Cr, Ni, Fe and Cu ions in saliva of cleft lip and palate patients were several times higher as compared with not treated orthodontically control groups and higher than in the group with orthodontic appliances. Among the assessed matrices, hair of cleft lip and palate patients seem to be not a meaningful biomarker. Conclusion It was found that orthodontic appliances used in long-term treatment of cleft lip and palate patients do not release toxic levels of Cr and Ni ions. PMID:26544176

  3. Complete sternal cleft associated with right clavicular, manubrial, and thyroid hypoplasia, pectus deformity, and spinal anomalies.

    PubMed

    Golden, Eleza T; Alazraki, Adina; Loewen, Jonathan; Braithwaite, Kiery

    2016-01-01

    Sternal cleft anomalies are rare. Associated anomalies include pentalogy of Cantrell and posterior fossa abnormalities, hemangiomas, arteriopathy, cardiac anomalies, eye abnormalities, and sternal defects syndrome. There is only a single report of complete sternal cleft, pectus excavatum, and right clavicular hypoplasia in an adult. Thyroid hemiagenesis is also very rare. To our knowledge, this is the first case of complete sternal cleft, pectus deformity, and right clavicular hypoplasia in a child and the first case with right thyroid hemiagenesis.

  4. Clinical and genetic study on 356 Brazilian patients with a distinct phenotype of cleft lip and palate without alveolar ridge involvement.

    PubMed

    Alvarez, Camila Wenceslau; Guion-Almeida, Maria Leine; Richieri-Costa, Antonio

    2014-12-01

    Oral clefts include cleft lip (CL), cleft lip with cleft palate (CLP) and cleft palate (CP), with wide variations in clinical presentation and degree of severity. We described a sample of individuals with CL and CP without alveolar arch involvement (CL + CP) to verify if the characteristics of this group are distinct from those with CL with or without CP (CL/P) described in literature. The sample was composed of 356 patients with CL + CP, registered at HRCA-USP, Bauru-SP-Brazil. The following characteristics were investigated: sex ratio, parental age at the time of conception, parental consanguinity, familial recurrence, laterality of the cleft and associated anomalies. A subgroup of 30 individuals with microforms of CL and CP were taken from the sample and compared with the remaining cases. Statistical differences were found between this CL + CP sample and the literature data for groups with CL/P regarding laterality, sex ratio, consanguinity, familial recurrence, and the presence of associated anomalies. The microform sample showed a statistical difference in paternal age. In most evaluated aspects, this sample presents similar characteristics to the consulted literature data for CL/P; as do the group of microform cleft cases when compared with the remaining CL + CP sample in this study. Microforms of cleft can represent a target group for investigation into the embryogenetic mechanisms of oral clefts and their phenotypic variability.

  5. Profile evaluation of patients with cleft lip and palate undergoing surgery at a reference center in rio de janeiro, Brazil.

    PubMed

    Franco, Diogo; Iani, Marcella; Passalini, Ronaldo; Demolinari, Ivan; Arnaut, Marcio; Franco, Talita

    2012-01-01

    In Brazil, the classic timeline for operating on cleft lip and palate is three months old for cheiloplasty and is 12 to 18 months old for palatoplasty. As from Brazilian treatment centers are usually located in major cities, patients living in more remote areas are often unable to receive treatment at the ideal ages. Data were analyzed retrospectively on 45 patients with cleft lip and/or palate, consecutively operated at the Reference Center, Rio de Janeiro Federal University, Brazil. Particularly noteworthy among these data are gender, clinical presentation, operations performed, age of surgery, and the distance between their homes and the hospital. The average age of patients undergoing primary cheiloplasty was 9.4 months, with primary palatoplasties performed at an average age of 7.2 years. As 67% of these patients lived in other towns, they encountered difficulties in seeking and continuing specialized care. Despite attempts to decentralize cleft palate care in Brazil, suitable conditions are not yet noted for following the treatment protocols in a full and adequate manner.

  6. Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.

    PubMed

    Wang, Yirui; Sun, Yimin; Huang, Yongqing; Pan, Yongchu; Jia, Zhonglin; Ma, Lijuan; Ma, Lan; Lan, Feifei; Zhou, Yuxi; Shi, Jiayu; Yang, Xiong; Zhang, Lei; Jiang, Hongbing; Jiang, Min; Yin, Aihua; Cheng, Jing; Wang, Lin; Yang, Yinxue; Shi, Bing

    2016-08-15

    Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects worldwide and is characterized by abnormalities of the orofacial structure. Syndromic CL/P is mainly caused by Mendelian disorders such as Van der Woude Syndrome (VWS). However, >70% of CL/P cases are nonsyndromic, characterized by isolated orofacial cleft without any known syndrome. The etiology of nonsyndromic CL/P (NSCL/P) remains elusive, but it has been suggested that causative genes of syndromic CL/P might also contribute to NSCL/P. As such, the VWS causative gene IRF6 has been extensively studied in NSCL/P. Recently, GRHL3 was identified as another VWS causative gene. Thus, it may be a novel candidate gene for NSCL/P. In the present study, we genotyped 10 tag SNPs covering GRHL3 and performed association analysis with NSCL/P in 504 cases and 455 healthy controls. Our preliminary results identified rs10903078, rs4638975, and a haplotype rs10903078-rs6659209 of GRHL3 that exceeded the significance threshold (p<0.05), though none survived Bonferroni correction for multiple comparisons. As the first study between GRHL3 and NSCL/P, the contribution of this gene to NSCL/P etiology should be interpreted with caution based on existing evidence. Further, the robustness of association between GRHL3 and NSCL/P should be further validated in expanded cohorts.

  7. Older adults' experiences of living with cleft lip and palate: a qualitative study exploring aging and appearance.

    PubMed

    Hamlet, Claire; Harcourt, Diana

    2015-03-01

    Objective : To explore older adults' experiences of living with cleft lip and/or palate (CL/P), focusing on aging and appearance. Design : An exploratory-descriptive qualitative study. Participants : Individual semi-structured interviews (five via telephone, one face-to-face) conducted with six adults between the ages of 57 and 82 years. Results : Interview transcripts were analyzed using interpretative phenomenological analysis, which resulted in five themes: cleft across the life span, keeping up appearances, being one of a kind, resilience and protection, and cleft in an ever-changing society. A CL/P had an ongoing impact on participants' lives, although its relevance shifted over time and some aspects of life (e.g., romantic relationships, decisions about having children of their own) were particularly affected. Participants seemed at ease living with CL/P as an older adult and considered it an important aspect of their identity, yet they still described feeling isolated at times and had little contact with other people with a cleft. They felt that health care could be more considerate to the needs of older people with a cleft, particularly around dentistry and information provision. Participants thought societal attitudes toward visible differences had changed over the years, but not necessarily for the better. A paradox was evident between reports of being noticed by others because of their cleft and simultaneously feeling invisible or ignored because of their age. Conclusions : These findings have implications for provision of care for older adults with a CL/P and for younger people with a CL/P who will be the older generation of the future.

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

    PubMed Central

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

    2015-01-01

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

  9. Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

    PubMed

    Wenger, Tara L; Chow, Penny; Randle, Stephanie C; Rosen, Anna; Birgfeld, Craig; Wrede, Joanna; Javid, Patrick; King, Darcy; Manh, Vivian; Hing, Anne V; Albers, Erin

    2017-02-01

    Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate. She also was found to have three novel features: (i) left ventricular non-compaction (LVNC) cardiomyopathy; (ii) microform cleft lip; and (iii) severe hyperopia and astigmatism. These features have implications regarding potential insight into the pathogenesis of the disorder, screening, and medical management. Hypertrophic cardiomyopathy has previously been reported in SMC1A-associated CdLS, but to our knowledge this is the first reported child with LVNC. Previous reports have included children with isolated clefts of the palate without involvement of the lip. When cleft palate alone is associated with a disorder, the underlying pathophysiology for clefting is sometimes secondary due to mechanical blocking of the fusion of the palatal shelves with the developing tongue. The presence of microform cleft lip in this patient suggests that the pathophysiology of clefting in SMC1A is primary rather than secondary. Few studies report ophthalmologic findings specific to SMC1A. Based on these findings, LVNC cardiomyopathy and cleft lip should be considered features of SMC1A-associated CdLS. All patients should receive echocardiogram and undergo thorough ophthalmologic evaluation as part of routine CdLS care. © 2016 Wiley Periodicals, Inc.

  10. Children with repaired bilateral cleft lip/palate: effect of age at premaxillary osteotomy on facial growth.

    PubMed

    Padwa, B L; Sonis, A; Bagheri, S; Mulliken, J B

    1999-10-01

    This study compared facial growth in three groups of patients with bilateral complete cleft lip/palate: those who had (1) no premaxillary osteotomy, (2) premaxillary osteotomy before age 8 years, and (3) premaxillary osteotomy after age 8 years. Of 24 children with bilateral complete cleft lip/palate, 7 had early premaxillary osteotomy (mean age, 6.1; range, 3.7 to 7.6 years), 10 had late osteotomy (mean age, 11.2; range, 8.3 to 20.7 years), and 7 did not require premaxillary repositioning and served as controls (mean age, 12.4; range, 6.4 to 17.8 years). Presurgical and postsurgical lateral cephalograms were digitized using the Dentofacial Planner software; most current lateral cephalograms comprised the control group. Forty-one bony and 25 soft-tissue landmarks were digitized, and 8 angles were measured: SNA, (sella-nasion-A point), SNPg (sella-nasion-pogonion), ANB (A point-nasion-B point), NAPg (nasion-A point-pogonion), ST convexity (glabella-subnasale-soft-tissue pogonion), Sn-G vertical (line perpendicular to the horizontal plane dropped from glabella and distance measured from subnasale to this vertical), Cm-Sn-Ls (columella-subnasale-abial superioris), and Sn-Gn-C (subnasale-soft-tissue gnathion-chin point). Statistical difference in mean preoperative and postoperative values were measured with analysis of variance. Tests of significance were adjusted for multiple comparisons using the Bonferroni correction. Mean age at follow-up for early, late, and control groups was 11.8, 14.0, and 12.4 years, respectively. Mean follow-up for early and late groups was 5.7 and 2.8 years. There was a significant preoperative difference among the three groups for mean SNA (p < 0.01), ANB (p < 0.01), and NAPg (p < 0.01). Bonferroni analyses revealed that the early group had significantly greater SNA, ANB, and NAPg angles than the late (p < 0.01) and control groups (p < 0.05). There was a significant postoperative difference among groups for ANB (p < 0.05); Bonferroni

  11. The impact of early infant jaw-orthopaedics on early speech production in toddlers with unilateral cleft lip and palate.

    PubMed

    Lohmander, Anette; Lillvik, Malin; Friede, Hans

    2004-01-01

    The purpose of study was to investigate the impact of pre-surgical Infant Orthopaedics (IO) on consonant production at 18 months of age in children with Unilateral Cleft Lip and Palate (UCLP) and to compare the consonant production to that of age-matched children without clefts. The first ten children in a consecutive series of 20 with UCLP received IO and the following ten did not. Both groups had soft palate repair at 6.3 months of age. The cleft in the hard palate was unrepaired. Ten normally developing children without clefts served as controls. Nine children in each group accomplished the study. Phonetic transcriptions of consonants were made from audiotape recordings obtained during a 45-60 minute interactive session. No significant differences in the number of consonant tokens or of consonant types were found between the UCLP children with and without IO but both groups had significantly lower numbers than the control group. There was no significant difference in frequency of different manners or places of articulation of plosives between the UCLP groups. The frequency of occurrence of bilabial and dental consonant placements of plosives were significantly higher in the control group than in both UCLP groups.

  12. Orthodontic Considerations for Maxillary Distraction Osteogenesis in Growing Patients with Cleft Lip and Palate Using Internal Distractors

    PubMed Central

    Silveira, Adriana da; Moura, Pollyana Marques de; Harshbarger, Raymond J.

    2014-01-01

    The orthodontist plays a key role in the selection of the optimal treatment for patients followed by a craniofacial team. For patients with cleft lip and palate, the need for multidisciplinary treatment planning and sequentially staged treatment is essential for successful patient outcomes. The technique of Le Fort I distraction osteogenesis of the maxilla using an internal device is potentially a predictable, stable, and convenient option for the correction of severe maxillary hypoplasia. It is an alternative option for treatment of maxillary hypoplasia in growing patients. In this article, the authors describe the orthodontist's approach to the management of cleft patients with severe maxillary deficiency with the use of an internal distraction device. The information is presented with a focus on the clinical aspects of treatment, using case illustrations and appropriate literature. PMID:25383056

  13. Maxillary distraction versus orthognathic surgery in cleft lip and palate patients: effects on speech and velopharyngeal function.

    PubMed

    Chua, H D P; Whitehill, T L; Samman, N; Cheung, L K

    2010-07-01

    This clinical randomized controlled trial was performed to compare the effects of distraction osteogenesis (DO) and conventional orthognathic surgery (CO) on velopharyngeal function and speech outcomes in cleft lip and palate (CLP) patients. Twenty-one CLP patients who required maxillary advancement ranging from 4 to 10 mm were recruited and randomly assigned to either CO or DO. Evaluation of resonance and nasal emission, nasoendoscopic velopharyngeal assessment and nasometry were performed preoperatively and at a minimum of two postoperative times: 3-8 months (mean 4 months) and 12-29 months (mean 17 months). Results showed no significant differences in speech and velopharyngeal function changes between the two groups. No correlation was found between the amount of advancement and the outcome measures. It was concluded that DO has no advantage over CO for the purpose of preventing velopharyngeal incompetence and speech disturbance in moderate cleft maxillary advancement.

  14. 2012 American Board of Pediatric Dentistry College of Diplomates annual meeting: the role of pediatric dentists in the presurgical treatment of infants with cleft lip/cleft palate utilizing nasoalveolar molding.

    PubMed

    Ahmed, Mohammad M; Brecht, Lawrence E; Cutting, Court B; Grayson, Barry H

    2012-01-01

    The pediatric dentist plays a crucial role in the treatment and management of infants born with cleft deformities of the lip, alveolus, and palate. At New York University Langone Medical Center in New York City, 70% of infants with cleft lip/cleft palate (CLCP) are detected on prenatal ultrasound analysis. Thus, the role of the pediatric dentist can start as early as prenatal counseling. Nasoalveolar molding (NAM) is delivered during the first 3 to 5 months of life. During this stage of treatment, the pediatric dentist establishes the foundation of the “cleft dental” home and initiates the first stage of anticipatory guidance. Consequently, parents are educated and motivated to initiate oral hygiene care upon eruption of the first primary teeth. The purpose of this paper was to describe the role of the pediatric dentist in performing nasoalveolar molding and also describe its indications, appliance design, fabrication, biomechanics, complications, and patient management.

  15. Orthopedic intrusion of premaxilla with distraction devices before alveolar bone grafting in patients with bilateral cleft lip and palate.

    PubMed

    Liou, Eric Jein-Wein; Chen, Philip K T; Huang, C Shing; Chen, Y Ray

    2004-03-01

    Surgical repositioning of the downward displaced premaxilla in bilateral cleft lip and palate patients remains a controversial and perplexing issue because of its detrimental effects on the growth of the premaxilla. The purpose of this prospective clinical study was to introduce and evaluate the treatment results of an innovative technique for nonsurgically intruding the downward displaced premaxilla. Eight consecutive cases of bilateral cleft lip and palate at the age of mixed dentition were included for the correction of their premaxillary deformities. A pair of intraoral tooth-borne distraction devices was used for the orthopedic intrusion. Serial lateral and posteroanterior cephalometric radiographs were taken periodically for evaluating the growth of the premaxilla 1 year before the intrusion, changes during the intrusion, and growth/relapse up to 1 year after the intrusion. There was no overgrowth of the premaxilla or overeruption of the maxillary incisors during the 1-year observing period before the orthopedic intrusion. The treatment results revealed that the downward displaced premaxillae were all corrected within 1 month. Cephalometrically, 46 percent of the correction resulted from a true orthopedic intrusion and another 54 percent from a dentoalveolar effect in which the maxillary incisors were intruded and the premaxillary dentoalveolus was shortened. The cephalometric evaluations also implied that what occurred during the orthopedic intrusion was mostly the sutural contraction osteogenesis/osteolysis in the vomeropremaxillary suture combined with slightly mechanical upward displacement of the vomeronasal septum complex and nasal bones. The orthopedic intrusion of the premaxilla with distraction devices is an effective nonsurgical method for correcting the downward displaced premaxilla before alveolar bone grafting in patients with bilateral cleft lip and palate, and the results remained stable after 1 year.

  16. Objective assessment of internal nasal dimensions and speech resonance in individuals with repaired unilateral cleft lip and palate after rhinoseptoplasty.

    PubMed

    Trindade, Inge Elly Kiemle; Bertier, Carlos Eduardo; Sampaio-Teixeira, Ana Claudia Martins

    2009-03-01

    The objective of the current study was to analyze the effects of rhinoseptoplasty on internal nasal dimensions and speech resonance of individuals with unilateral cleft lip and palate, estimated by acoustic rhinometry and nasometry, respectively. Twenty-one individuals (aged 15-46 years) with previously repaired unilateral cleft lip and palate were analyzed before (PRE), and 6 to 9 (POST1) and 12 to 18 months (POST2) after surgery. Acoustic rhinometry was used to measure the cross-sectional areas (CSAs) of segments corresponding to the nasal valve (CSA1), anterior portion (CSA2), and posterior portion (CSA3) of the lower turbinate, and the volumes at the nasal valve (V1) and turbinate (V2) regions at cleft and noncleft sides, before and after nasal decongestion with a topical vasoconstrictor. Nasometry was used to evaluate speech nasalance during the reading of a set of sentences containing nasal sounds and other devoid of nasal sounds. At the cleft side, before nasal decongestion, there was a significant increase (P < 0.05) in mean CSA1 and V1 values at POST1 and POST2 compared with PRE. After decongestion, increased values were also observed for CSA2 and V2 at POST2. No significant changes were observed at the noncleft side. Mean nasalance values at PRE, POST1, and POST2 were not different from each other in both oral and nasal sentences. The measurement of CSAs and volumes by acoustic rhinometry revealed that rhinoseptoplasty provided, in most cases analyzed, a significant increase in nasal patency, without concomitant changes in speech resonance, as estimated by nasalance assessment.

  17. Maxillary rehabilitation using a removable partial denture with attachments in a cleft lip and palate patient: a clinical report.

    PubMed

    Palmeiro, Marina Rechden Lobato; Piffer, Caroline Scheeren; Brunetto, Vivian Martins; Maccari, Paulo César; Shinkai, Rosemary Sadami Arai

    2015-04-01

    Clefts of the lip and/or palate (CLP) are oral-facial defects that affect health and overall quality of life. CLP patients often need multidisciplinary treatment to restore oral function and esthetics. This paper describes the oral rehabilitation of a CLP adult patient who had maxillary bone and tooth loss, resulting in decreased occlusal vertical dimension. Functional and cosmetic rehabilitation was achieved using a maxillary removable partial denture (RPD) attached to telescopic crowns. Attachment-retained RPDs may be a cost-effective alternative for oral rehabilitation in challenging cases with substantial loss of oral tissues, especially when treatment with fixed dental prostheses and/or dental implants is not possible.

  18. Nonsyndromic Mandibular Symphysis Cleft

    PubMed Central

    Guttikonda, Leela Krishna; Nadella, Koteswara Rao; Uppaluru, Vijayalakshmi; Kodali, Rama Mohan; Nallamothu, Ranganadh

    2014-01-01

    Median cleft of lower lip and mandible is a rare congenital anomaly described as cleft number 30 of Tessier's classification. In minor forms only lower lip cleft is seen. We report the case of a patient with median cleft of lower lip, severe ankyloglossia, cleft of mandibular symphysis, and residual cleft involving on right soft palate and associated with other facial clefts. These deformities were corrected in multiple stage procedure, consisting of release of the tongue from floor of the mouth and lower alveolus and fixation of the mandibular cleft done with right iliac bone graft using stainless steel miniplate. PMID:24711928

  19. Surgeon’s and Caregivers’ Appraisal of Primary Cleft Lip Treatment With and Without Nasoalveolar Molding: A Prospective Multicenter Pilot Study

    PubMed Central

    Broder, Hillary L.; Flores, Roberto L.; Clouston, Sean; Kirschner, Richard E.; Garfinkle, Judah S.; Sischo, Lacey; Phillips, Ceib

    2015-01-01

    Background Despite the increasing use of nasoalveolar molding (NAM) in early cleft treatment, questions remain about its effectiveness. This study examines clinician and caregiver appraisals of primary cleft lip and nasal reconstruction with and without NAM in a non-randomized, prospective multicenter study. Methods Participants were 110 infants with cleft lip/palate (62 treated with NAM and 48 treated without NAM (NO-NAM)) and their caregivers seeking treatment at one of six high-volume cleft centers. Using the Extent of Difference Scale, standard photos for a randomized subset of 54 infants were rated pre-treatment and post-surgery by an expert clinician blinded to treatment group. Standard blocked and cropped photos included frontal, basal, left and right views of the infants. Using the same scale, caregivers rated their infants’ lip, nose, and facial appearance compared to the general population of infants without clefts pre-treatment and post-surgery. Multilevel modeling was used to model change in ratings of infants’ appearance pre-treatment and post-surgery. Results The expert clinician ratings indicated that NAM-treated infants had more severe clefts at pre-treatment; yet both groups were rated equally post-surgery. NAM caregivers reported better post-surgery outcomes compared to NO-NAM caregivers (p<0.05), particularly in relation to the appearance of the nose. Conclusions Despite having a more severe cleft before treatment, infants who underwent NAM were found by clinician ratings to have comparable results to those who underwent lip repair alone. Infants who underwent NAM were perceived by caregivers to have better treatment outcomes than those that underwent lip repair without NAM. PMID:26910677

  20. A 3.1 Mb Microdeletion of 3p21.31 Associated with Cortical Blindness, Cleft Lip, CNS Abnormalities, and Developmental Delay

    PubMed Central

    Haldeman-Englert, Chad R.; Gai, Xiaowu; Perin, Juan Carlos; Ciano, Melissa; Halbach, Sara S.; Geiger, Elizabeth A.; McDonald-McGinn, Donna M.; Hakonarson, Hakon; Zackai, Elaine H.; Shaikh, Tamim H.

    2009-01-01

    We report a 3.1 Mb de novo deletion of 3p21.31 in a 3 ½ year old female with cortical blindness, cleft lip, CNS abnormalities, and gross developmental delays. Examination of the region showed ~80 genes to be involved in the deletion. Functional analysis of the deleted genes suggests that several of them may be important in normal neuronal maturation and function. Thus, haploinsufficiency of one or more of these genes could potentially contribute to the observed phenotype. Our patient does not have clinical features that overlap completely with either proximal or distal 3p deletions, suggesting that the deletion seen in our patient leads to a distinct clinical phenotype not described previously. PMID:19100872

  1. Comparison of videonasoendoscopy and auditory-perceptual evaluation of speech in individuals with cleft lip/palate

    PubMed Central

    Paniagua, Lauren Medeiros; Signorini, Alana Verza; Costa, Sady Selaimen da; Collares, Marcus Vinicius Martins; Dornelles, Sílvia

    2013-01-01

    Summary Introduction: The velopharyngeal sphincter (VPS) is a muscle belt located between the oropharynx and the nasopharynx. Investigations of velopharyngeal function should include an auditory-perceptual evaluation and at least 1 instrument-based evaluation such as videonasoendoscopy. Aim: To compare the findings of auditory-perceptual evaluation (hypernasality) and videonasoendoscopy (gap size) in individuals with cleft lip/palate. Method: This was a retrospective, cross-sectional study assessing 49 subjects, of both sexes, with cleft lip/palate followed up at the Otorhinolaryngology Service and the Speech Therapy outpatient clinic of Hospital de Clínicas de Porto Alegre (HCPA). The results from the auditory-perceptual evaluation and the videonasoendoscopy test were compared with respect to the VPS gap size. Results: Subjects with moderate/severe hypernasality had more severe velopharyngeal closure impairment than those with a less severe condition. The interaction between hypernasality severity and the presence of other speech disorders (p = 0.035), whether compensatory and/or obligatory, increased the likelihood of having a moderate-to-large gap in the velopharyngeal closure. Conclusions: We observed an association between the findings of these 2 evaluation methods. PMID:25992023

  2. Assessment of the Airway Characteristics in Children with Cleft Lip and Palate using Cone Beam Computed Tomography

    PubMed Central

    Marwah, Nikhil

    2016-01-01

    ABSTRACT Objective: The aim of our study is to use cone beam computed tomography (CBCT) to assess the dimensional changes in the nasopharyngeal soft-tissue characteristics in children of Indian origin with repaired cleft lip and palate (CLP) and to compare the results with patients with ideal occlusion. Materials and methods: A sample of 20 children (10 girls, 10 boys) with repaired CLP was selected. Cone beam computed tomography scans were taken to measure the nasopharyngeal airway changes in terms of linear measurements and sagittal cross-sectional areas. Error analysis was performed to prevent systematic or random errors. Independent means t-tests and Pearson correlation analysis were used to evaluate sex differences and the correlations among the variables. Results: Nasopharyngeal soft-tissue characteristics were different in the control and the study groups. Subjects with repaired CLP had lesser lower aerial width, lower adenoidal width and lower airway width. The upper airway width was also significantly lesser. The retropalatal and the total airway area were significantly greater in the control group. Conclusion: The narrow pharyngeal airway in patients with CLP might result in functional impairment of breathing in patients. Further investigations are necessary to clarify the relationship between pharyngeal structure and airway function in patients with CLP. How to cite this article: Agarwal A, Marwah N. Assessment of the Airway Characteristics in Children with Cleft Lip and Palate using Cone Beam Computed Tomography. Int J Clin Pediatr Dent 2016;9(1):5-9. PMID:27274147

  3. Comparison of haemodynamic responses following different concentrations of adrenaline with and without lignocaine for surgical field infiltration during cleft lip and cleft palate surgery in children.

    PubMed

    Muthukumar, Marimuthu; Arya, Virendra K; Mathew, Preety J; Sharma, Ramesh K

    2012-01-01

    Surgical field infiltration with adrenaline is common practice for quality surgical field during cleft lip and palate repair in children. Intravascular absorption of adrenaline infiltration often leads to adverse haemodynamic responses. In this prospective, double-blinded, randomised study the haemodynamic effects, quality of surgical field and postoperative analgesia following surgical field infiltration with different concentrations of adrenaline with and without lignocaine were compared in 100 American Society of Anesthesiologists physical status I children aged six months to seven years undergoing cleft lip/palate surgery. A standard anaesthesia protocol was used and they were randomised into four groups based on solution for infiltration: adrenaline 1:400,000 (group A), adrenaline 1:200,000 (group B), lignocaine + adrenaline 1:400,000 (group C) and lignocaine + adrenaline 1:200,000 (group D). Statistically significant tachycardia and hypertension occurred only in group B as compared to other groups (P <0.001). The peak changes in heart rate and mean arterial pressure following infiltration occurred at 4.3 ± 2.4, 3.8 ± 1.5, 5.7 ± 3.2 and 5.9 ± 4.9 minutes in groups A, B, C and D respectively. Surgical field was comparable among all groups. Postoperative pain scores and rescue analgesic requirements were lesser in the groups where lignocaine was added to the infiltrating solution (P <0.05). We found that 1:400000 or 1:200000 adrenaline with lignocaine 0.5 to 0.7% is most suitable for infiltration in terms of stable haemodynamics, quality of surgical field and good postoperative analgesia in children.

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

    PubMed Central

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

    2011-01-01

    The aim of this study was to examine the consonant-vowel co-occurrence patterns predicted by the Frame-Content theory in 16 nine-month-old babies with unrepaired cleft palate (± cleft lip) and 16 age-matched non-cleft babies. Babble from these babies was phonetically transcribed and grouped according to the intrasyllabic predictions of the theory (labial-central, alveolar-front, and velar-back). Both groups demonstrated the three consonant-vowel co-occurrence patterns predicted by the Frame-Content theory. Other patterns not predicted by the Frame-Content theory emerged as strong patterns as well. PMID:21889772

  5. Association of single-nucleotide polymorphisms of CDH1 with nonsyndromic cleft lip with or without cleft palate in a northern Chinese Han population

    PubMed Central

    Song, Hongquan; Wang, Xiaotong; Yan, Jiaqun; Mi, Na; Jiao, Xiaohui; Hao, Yanru; Zhang, Wei; Gao, Yuwei

    2017-01-01

    Abstract Background: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital malformation among live births, and depends on race and ethnic background. The CDH1 gene plays a vital role in orofacial development. Our research was conducted to examine the association between 3 single-nucleotide polymorphisms in the CDH1 gene and NSCL/P. Methods: Three single-nucleotide polymorphisms (rs16260, rs9929218, and rs1801552) of the CDH1 gene were genotyped using the Snapshot mini-sequencing technique in 331 patients with NSCL/P and 271 controls from the northern Chinese Han population. Results: The investigation indicated that presence of the CDH1 rs1801552 TT genotype under the assumption of a recessive model is related to the decreased risk for NSCL/P (odds ratio 0.53, 95% confidence interval 0.34–0.81, P = 0.003). The results were still significant after the Bonferroni correction for multiple comparisons. However, nonsignificant differences in rs16260 and rs9929218 were found between cases and controls. Conclusion: Our study demonstrates that the CDH1 polymorphisms were significantly associated with the risk of NSCL/P in the northern Chinese Han population. We provide further evidence regarding the role of CDH1 variations in the development of NSCL/P in a northern Chinese Han population. PMID:28151848

  6. No association between polymorphisms in cubilin, a gene of the homocysteine metabolism and the risk of non-syndromic cleft lip with or without cleft palate.

    PubMed

    Martinelli, M; Carinci, F; Morselli, P G; Palmieri, A; Girardi, A; Riberti, C; Scapoli, L

    2011-01-01

    Epidemiological studies have correlated lower maternal periconceptional levels of plasma folate and cobalamin with increased risk of delivering offspring presenting congenital malformations such as cleft lip with or without cleft palate (CL/P) or neural tube defects. A number of genetic studies aimed at correlating these biochemical levels or the occurrence of malformations with specific genetic defects or polymorphisms have been successfully performed. The cubilin gene (CUBN) codes for a carrier that plays a crucial role in cobalamin cell internalization. CUBN polymorphisms were previously found to be associated with spina bifida occurrence. In this work, a family-based association study was performed to test CUBN involvement in CL/P. A sample of 391 CL/P triads was investigated with three single nucleotide polymorphisms mapping on the cubilin gene. Association tests indicated no significant association between CL/P and marker alleles or marker haplotypes. No evidence of maternal effect and imprinting were obtained. These data suggest that CUBN is not involved in CL/P onset in the investigated Italian population.

  7. Cleft Palate; A Multidiscipline Approach.

    ERIC Educational Resources Information Center

    Stark, Richard B., Ed.

    Nineteen articles present a multidisciplinary approach to the management of facial clefts. The following subjects are discussed: the history of cleft lip and cleft palate surgery; cogenital defects; classification; the operation of a cleft palate clinic; physical examination of newborns with cleft lip and/or palate; nursing care; anesthesia;…

  8. Factors related to quality of life and satisfaction with nasal appearance in patients treated for unilateral cleft lip and palate.

    PubMed

    Mani, Maria; Reiser, Erika; Andlin-Sobocki, Anna; Skoog, Valdemer; Holmström, Mats

    2013-07-01

    Objective : To identify factors related to quality of life (QoL) and satisfaction with nasal appearance among patients treated for unilateral cleft lip and palate (UCLP). Design : Cross-sectional population study with long-term follow-up. Patients/Settings : All patients with UCLP born between 1960 and 1987, treated at Uppsala University Hospital, were invited (n  =  109); 86 (79%) participated. Mean follow-up time was 35 years. Main Outcome Measures : Quality of life was measured with Short Form-36 (SF-36) and analyzed using mental and physical cluster scores (MCS and PCS). Nasal appearance was self-assessed with the "Satisfaction With Appearance" questionnaire and by panel judgment. Multivariate regression analyses explored endogenous factors (age, gender, infancy cleft width, nasal function, nasolabial appearance) and exogenous factors (marital status, number of children, education level, operation method, number of rhinoplasties performed). Results : A larger cleft width in infancy was associated with less satisfaction with nasal appearance as adults. A lower mental health QoL was associated with less satisfaction with nasal appearance. Despite female gender being linked to less satisfaction with nasal appearance, it was associated with higher mental health QoL. Higher resistance during nasal breathing was associated with lower physical health QoL. Conclusions : Gender and infant cleft width may affect QoL and satisfaction with nasal appearance among adults. They are potential predictive factors for satisfaction with nasal appearance and QoL during adulthood. The correlation of nasal function impairment and decreased physical health QoL underlines the importance of treatment of nasal symptoms in these patients.

  9. Current Training and Continuing Education Needs of Preschool and School-Based Speech-Language Pathologists regarding Children with Cleft Lip/Palate

    ERIC Educational Resources Information Center

    Bedwinek, Anne P.; Kummer, Ann W.; Rice, Gale B.; Grames, Lynn Marty

    2010-01-01

    Purpose: The purpose of this study was to obtain information regarding the education and experience of preschool and school-based speech-language pathologists (SLPs) regarding the assessment and treatment of children born with cleft lip and/or palate and to determine their continuing education needs in this area. Method: A 16-item mixed-methods…

  10. Gender Issues in Parenting Cleft Lip and Palate Babies in Southern Nigeria: A Study of the University of Benin Teaching Hospital

    ERIC Educational Resources Information Center

    Umweni, A. A.; Okeigbemen, S. A.

    2009-01-01

    There is a scarcity of studies on gender issues in parenting cleft lip and palate (CLAP) babies. The birth of a CLAP child presents an immediate visible handicap that is distressing to parents. The aims and objectives of this study are to determine the influence of gender on the attitude of parents on the birth of CLAP babies, to articulate the…

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

    ERIC Educational Resources Information Center

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

    2006-01-01

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

  12. Nasomaxillary complex in size, position and orientation in surgically treated and untreated individuals with cleft lip and palate: A cephalometric overview

    PubMed Central

    Khanna, Rohit; Tikku, Tripti; Wadhwa, Jitesh

    2012-01-01

    Background: This cross-sectional retrospective cephalometric study was designed to clarify whether the maxillary deficiency seen in surgically treated individuals with non-syndromic complete unilateral cleft lip and palate (UCLP) is due to inherent growth potential or iatrogenicity. Materials and Methods: 72 adult individuals were randomly selected in the age range of 12-20 years, and were divided into two groups. Group I had 47 untreated individuals. Group II consisted of 25 surgically treated individuals. Lateral and frontal cephalograms of the selected individuals were taken and analysed using Nemoceph software. Results: Group II showed a marked reduction in the cranial base angle, maxillary base length, anterior and posterior maxillary positions, palatal plane angle, maxillary width, maxillary height, occlusal plane height, nasal width and nasal height. Conclusion: Surgical intervention does interfere with growth in the facial region. This could be attributed to the scar tissue in lip and palate region, which has a restraining effect on growth in the facial region. These altered functional matrices play a significant role in determining the growth of facial structures. PMID:22754157

  13. 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

    PubMed Central

    FREITAS, José Alberto de Souza; GARIB, Daniela Gamba; TRINDADE-SUEDAM, Ivy Kiemle; CARVALHO, Roberta Martinelli; OLIVEIRA, Thais Marchini; LAURIS, Rita de Cássia Moura Carvalho; de ALMEIDA, Ana Lúcia Pompéia Fraga; NEVES, Lucimara Teixeira das; YAEDÚ, Renato Yassutaka Faria; SOARES, Simone; MAZZOTTINI, Reinaldo; PINTO, João Henrique Nogueira

    2012-01-01

    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. PMID:23329251

  14. Minimum standards for the management of cleft lip and palate: efforts to close the audit loop. Royal College of Surgeons of England.

    PubMed Central

    Shaw, W. C.; Williams, A. C.; Sandy, J. R.; Devlin, H. B.

    1996-01-01

    Intercentre audit in the late 1980s revealed poorer outcomes for facial growth for British patients with cleft lip and palate than equivalent patients in northern Europe. A subsequent survey of the surgical practices in England and Wales, under the auspices of the Surgical Audit and Epidemiology Unit, revealed the widespread involvement of low-volume operators in cleft care, a tendency for low-volume operators to have an incomplete network of associated professionals, and non-standardised record keeping protocols. Recommendations for minimum standards of care for children born with cleft lip and palate were produced by a multidisciplinary steering group. A further investigation is planned to determine their validity and to provide a baseline for future audit cycles. PMID:8678442

  15. [The state of the nasal cavity and paranasal sinuses in the children presenting with congenital cleft of upper lip and palate].

    PubMed

    Bogoroditskaya, A V; Sarafanova, M E; Radtsig, E Yu; Prityko, A G

    2015-01-01

    The objective of the present study was to evaluate the state of the nasal cavity and paranasal sinuses in the children presenting with congenital cleft of upper lip and palate (CLP). A total of 23 children at the age from 9 to 16 years who had undergone the surgical treatment of the above malformations during the first year of life were examined. The comprehensive study including routine ENT examination, endoscopic examination of the nasal cavity and nasopharynx, and computed tomography has demonstrated that 50% of the patients with congenital cleft of upper lift and palate suffered the deflection of the nasal septum associated with hyperplasia of inferior turbinal bones. The children with congenital cleft of upper lip and palate were characterized by enhanced pneumatization of the anterior end of the middle turbinate despite the absence of well apparent differences between their paranasal sinuses and those of the healthy children, with the degree of pneumatization being consistent with the patient's age in both groups.

  16. Nasal symptoms and clinical findings in adult patients treated for unilateral cleft lip and palate.

    PubMed

    Morén, Staffan; Mani, Maria; Lundberg, Kristina; Holmström, Mats

    2013-10-01

    The aim of the study was to investigate self-experienced nasal symptoms among adults treated for UCLP and the association to clinical findings, and to evaluate whether palate closure in one-stage or two-stages affected the symptoms or clinical findings. All people with UCLP born between 1960-1987, treated at Uppsala University Hospital, were considered for participation in this cross-sectional population study with long-term follow-up. Eighty-three patients (76% participation rate) participated, a mean of 37 years after the first operation. Fifty-two patients were treated with one-stage palate closure and 31 with two-stage palate closure. An age-matched group of 67 non-cleft controls completed the same study protocol, which included a questionnaire regarding nasal symptoms, nasal inspection, anterior rhinoscopy, and nasal endoscopy. Patients reported a higher frequency of nasal symptoms compared with the control group, e.g., nasal obstruction (81% compared with 60%) and mouth breathing (20% compared with 5%). Patients also rated their nasal symptoms as having a more negative impact on their daily life and physical activities than controls. Nasal examination revealed higher frequencies of nasal deformities among patients. No positive correlation was found between nasal symptoms and severity of findings at nasal examination. No differences were identified between patients treated with one-stage and two-stage palate closure regarding symptoms or nasal findings. Adult patients treated for UCLP suffer from more nasal symptoms than controls. However, symptoms are not associated with findings at clinical nasal examination or method of palate closure.

  17. Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate

    PubMed Central

    Mitra, Amit K.; Stessman, Holly A. F.; Schaefer, Robert J.; Wang, Wen; Myers, Chad L.; Van Ness, Brian G.; Beiraghi, Soraya

    2016-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital birth defects. NSCL/P is a complex multifactorial disease caused by interactions between multiple environmental and genetic factors. However, the causal single nucleotide polymorphism (SNP) signature profile underlying the risk of familial NSCL/P still remains unknown. We previously reported a 5.7-Mb genomic region on chromosome 18q21.1 locus that potentially contributes to autosomal dominant, low-penetrance inheritance of NSCL/P. In the current study, we performed exome sequencing on 12 familial genomes (six affected individuals, two obligate carriers, and four seemingly unaffected individuals) of a six-generation family to identify candidate SNPs associated with NSCL/P risk. Subsequently, targeted bidirectional DNA re-sequencing of polymerase chain reaction (PCR)-amplified high-risk regions of MYO5B gene and sequenom iPLEX genotpying of 29 candidate SNPs were performed on a larger set of 33 members of this NSCL/P family (10 affected + 4 obligate carriers + 19 unaffected relatives) to find SNPs significantly associated with NSCL/P trait. SNP vs. NSCL/P association analysis showed the MYO5B SNP rs183559995 GA genotype had an odds ratio of 18.09 (95% Confidence Interval = 1.86–176.34; gender-adjusted P = 0.0019) compared to the reference GG genotype. Additionally, the following SNPs were also found significantly associated with NSCL/P risk: rs1450425 (LOXHD1), rs6507992 (SKA1), rs78950893 (SMAD7), rs8097060, rs17713847 (SCARNA17), rs6507872 (CTIF), rs8091995 (CTIF), and rs17715416 (MYO5B). We could thus identify mutations in several genes as key candidate SNPs associated with the risk of NSCL/P in this large multi-generation family. PMID:27242896

  18. Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies.

    PubMed

    Brito, Luciano A; Cruz, Lucas A; Rocha, Kátia M; Barbara, Ligia K; Silva, Camila B F; Bueno, Daniela F; Aguena, Meire; Bertola, Débora R; Franco, Diogo; Costa, André M; Alonso, Nivaldo; Otto, Paulo A; Passos-Bueno, Maria Rita

    2011-07-01

    Non-syndromic cleft lip with or without cleft palate (NS CL/P) is a complex disease in which heritability estimates vary widely depending on the population studied. To evaluate the importance of genetic contribution to NS CL/P in the Brazilian population, we conducted a study with 1,042 families from five different locations (Santarém, Fortaleza, Barbalha, Maceió, and Rio de Janeiro). We also evaluated the role of consanguinity and ethnic background. The proportion of familial cases varied significantly across locations, with the highest values found in Santarém (44%) and the lowest in Maceió (23%). Heritability estimates showed a higher genetic contribution to NS CL/P in Barbalha (85%), followed by Santarém (71%), Rio de Janeiro (70%), Fortaleza (64%), and Maceió (45%). Ancestry was not correlated with the occurrence of NS CL/P or with the variability in heritability. Only in Rio de Janeiro was the coefficient of inbreeding significantly larger in NS CL/P families than in the local population. Recurrence risk for the total sample was approximately 1.5-1.6%, varying according to the location studied (0.6-0.7% in Maceió to 2.2-2.8% in Barbalha). Our findings show that the degree of genetic contribution to NS CL/P varies according to the geographic region studied, and this difference cannot be attributed to consanguinity or ancestry. These findings suggest that Barbalha is a promising region for genetic studies. The data presented here will be useful in interpreting results from molecular analyses and show that care must be taken when pooling samples from different populations for association studies.

  19. Value of sagittal color Doppler ultrasonography as a supplementary tool in the differential diagnosis of fetal cleft lip and palate

    PubMed Central

    2017-01-01

    Purpose The purpose of this study was to evaluate the feasibility and usefulness of sagittal color Doppler ultrasonography (CDUS) for the diagnosis of fetal cleft lip (CL) and cleft palate (CP). Methods We performed targeted ultrasonography on 25 fetuses with CL and CP, taking coronal and axial images of the upper lip and maxillary alveolar arch in each case. The existence of defects in and malalignment of the alveolus on the axial image, hard palate defects on the midsagittal image, and flow-through defects on CDUS taken during fetal breathing or swallowing were assessed. We compared the ultrasonography findings with postnatal findings in all fetuses. Results Alveolar defects were detected in 16 out of 17 cases with CP and four out of eight cases with CL. Alveolar malalignment and hard palate defects were detected in 11 out of 17 cases and 14 out of 17 cases with CP, respectively, but not detected in any cases with CL. Communicating flow through the palate defect was detected in 11 out of 17 cases of CL with CP. The accuracy of detection in axial scans of an alveolar defect and malalignment was 80% and 76%, respectively. Accuracy of detection of in mid-sagittal images of hard palate defect and flow was 80% and 86%, respectively. The overall diagnostic accuracy of combined axial and sagittal images with sagittal CDUS was 92%. Conclusion Sagittal CDUS of the fetal hard palate is a feasible method to directly reveal hard palate bony defects and flow through defects, which may have additional value in the differential diagnosis of fetal CL and CP. PMID:27764909

  20. Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity

    PubMed Central

    Yu, Yanqin; Zuo, Xianbo; He, Miao; Gao, Jinping; Fu, Yuchuan; Qin, Chuanqi; Meng, Liuyan; Wang, Wenjun; Song, Yaling; Cheng, Yong; Zhou, Fusheng; Chen, Gang; Zheng, Xiaodong; Wang, Xinhuan; Liang, Bo; Zhu, Zhengwei; Fu, Xiazhou; Sheng, Yujun; Hao, Jiebing; Liu, Zhongyin; Yan, Hansong; Mangold, Elisabeth; Ruczinski, Ingo; Liu, Jianjun; Marazita, Mary L.; Ludwig, Kerstin U.; Beaty, Terri H.; Zhang, Xuejun; Sun, Liangdan; Bian, Zhuan

    2017-01-01

    Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most common craniofacial birth defects in humans. Here we conduct a GWAS of NSCLP with multiple independent replications, totalling 7,404 NSOFC cases and 16,059 controls from several ethnicities, to identify new NSCLP risk loci, and explore the genetic heterogeneity between sub-phenotypes of NSOFC. We identify 41 SNPs within 26 loci that achieve genome-wide significance, 14 of which are novel (RAD54B, TMEM19, KRT18, WNT9B, GSC/DICER1, PTCH1, RPS26, OFCC1/TFAP2A, TAF1B, FGF10, MSX1, LINC00640, FGFR1 and SPRY1). These 26 loci collectively account for 10.94% of the heritability for NSCLP in Chinese population. We find evidence of genetic heterogeneity between the sub-phenotypes of NSOFC and among different populations. This study substantially increases the number of genetic susceptibility loci for NSCLP and provides important insights into the genetic aetiology of this common craniofacial malformation. PMID:28232668

  1. Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

    PubMed

    Yu, Yanqin; Zuo, Xianbo; He, Miao; Gao, Jinping; Fu, Yuchuan; Qin, Chuanqi; Meng, Liuyan; Wang, Wenjun; Song, Yaling; Cheng, Yong; Zhou, Fusheng; Chen, Gang; Zheng, Xiaodong; Wang, Xinhuan; Liang, Bo; Zhu, Zhengwei; Fu, Xiazhou; Sheng, Yujun; Hao, Jiebing; Liu, Zhongyin; Yan, Hansong; Mangold, Elisabeth; Ruczinski, Ingo; Liu, Jianjun; Marazita, Mary L; Ludwig, Kerstin U; Beaty, Terri H; Zhang, Xuejun; Sun, Liangdan; Bian, Zhuan

    2017-02-24

    Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most common craniofacial birth defects in humans. Here we conduct a GWAS of NSCLP with multiple independent replications, totalling 7,404 NSOFC cases and 16,059 controls from several ethnicities, to identify new NSCLP risk loci, and explore the genetic heterogeneity between sub-phenotypes of NSOFC. We identify 41 SNPs within 26 loci that achieve genome-wide significance, 14 of which are novel (RAD54B, TMEM19, KRT18, WNT9B, GSC/DICER1, PTCH1, RPS26, OFCC1/TFAP2A, TAF1B, FGF10, MSX1, LINC00640, FGFR1 and SPRY1). These 26 loci collectively account for 10.94% of the heritability for NSCLP in Chinese population. We find evidence of genetic heterogeneity between the sub-phenotypes of NSOFC and among different populations. This study substantially increases the number of genetic susceptibility loci for NSCLP and provides important insights into the genetic aetiology of this common craniofacial malformation.

  2. Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs.

    PubMed

    Prescott, N J; Lees, M M; Winter, R M; Malcolm, S

    2000-03-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) is a complex disorder of multigenic origin involving between two and ten loci. Linkage and association studies of CL/P have implicated a number of candidate genes and regions but have often proved difficult to replicate. Here, we report the findings from a two-stage genome-wide scan of 92 affected sib-pairs to identify susceptibility loci to CL/P. An initial set of 400 microsatellite markers was used, with an average spacing of 10 cM throughout the genome. Eleven regions on eight chromosomes were found to have a P-value smaller than 0.05. These eight chromosomes were then further mapped with a second set of markers to increase the average map density to 5 cM. In seven out of eleven areas densely mapped, significance was markedly increased by decreasing the marker interval. Excessive allele sharing was found at 1p (NPL=2.35, P=0.009, MLS=1.51), 2p (NPL=1.77, P= 0.04, MLS=0.66), 6p (NPL=2.35, P=0.009, MLS=1.34), 8q (NPL=2.15, P=0.015, MLS= 1.51) 11 cen (NPL=2.70, P=0.003, MLS=2.10), 12q (NPL=2.08, P=0.02, MLS= 1.5), 16p (NPL=2.1, P=0.018, MLS=0.97) and Xcen-q (NPL=2.40, P=0.008, MLS=2.68). Although none reached the level required for significant susceptibility loci, two of these areas have previously been implicated in CL/P, viz. 2p13, an area harbouring the TGFA gene, and 6p23-24. We also demonstrate highly suggestive linkage to a susceptibility locus for nonsyndromic clefting on the X chromosome. Further studies are currently underway to replicate these findings in a larger cohort of affected sib-pairs.

  3. Speech Analysis of Bengali Speaking Children with Repaired Cleft Lip & Palate

    ERIC Educational Resources Information Center

    Chakrabarty, Madhushree; Kumar, Suman; Chatterjee, Indranil; Maheshwari, Neha

    2012-01-01

    The present study aims at analyzing speech samples of four Bengali speaking children with repaired cleft palates with a view to differentiate between the misarticulations arising out of a deficit in linguistic skills and structural or motoric limitations. Spontaneous speech samples were collected and subjected to a number of linguistic analyses…

  4. Conventional prosthodontic management of partial edentulism with a resilient attachment-retained overdenture in a patient with a cleft lip and palate: a clinical report.

    PubMed

    Acharya, Varun; Brecht, Lawrence E

    2014-08-01

    Recent advances in surgery and orthodontics have resulted in improvements in the management of patients with a cleft lip or palate. Early surgical intervention and bone-grafting procedures have frequently been used to ensure closure of the cleft and continuity of the alveolar bone. However, a need for the prosthodontic management of patients with a cleft palate still exists. Most frequently, the indication is to restore the edentulous spaces located anteriorly in the vicinity of the residual cleft defect. In addition to improving the esthetic outcome, prosthodontic management also is required to restore function, especially occlusion and speech. This clinical report illustrates the management of an adult patient with a unilateral cleft of the lip and palate who required prosthodontic rehabilitation after surgery. The patient had previously undergone multiple surgeries and did not want to consider implant therapy as a treatment option. Thus, the patient was managed with fixed and removable prosthodontics with a maxillary overdenture prosthesis retained by microextracoronal resilient attachments, which were laser welded onto crowns on abutment teeth to obtain a functionally and esthetically acceptable result.

  5. A Genome-Wide Linkage Scan for Cleft Lip and Cleft Palate Identifies a Novel Locus on 8p11-23

    PubMed Central

    Riley, B.M.; Schultz, R.E.; Cooper, M.E.; Goldstein-McHenry, T.; Daack-Hirsch, S.; Lee, K.T.; Dragan, E.; Vieira, A.R.; Lidral, A.C.; Marazita, M.L.; Murray, J.C.

    2008-01-01

    Isolated or nonsyndromic cleft lip and palate (NS CLP) is a complex disorder resulting from multiple genetic and environmental factors. NS CLP has a birth prevalence of 1 per 500 in the Philippines where large families provide an opportunity for gene localization. Genotyping of 392 microsatellite repeat markers at 10 cM intervals over the genome was performed by the Center for Inherited Disease Research (CIDR) on 220 Filipino families with 567 affected and 1,109 unaffected family members genotyped. Among the most statistically significant results from analysis of the genome-wide scan data was a 20 cM region at 8p11-23 in which markers had LODs ≥1.0. This region on 8p11-23 has not been found in any previous genome wide scan nor does it contain any of the candidate genes widely studied in CLP. Fine mapping in 8p11-23 was done in the 220 families plus an additional 51 families, using SNP markers from 10 known genes (FGFR1, NRG1, FZD3, SLC8A1, PPP3CC, EPHX2, BNIP3L, EGR3, PPP2R2A, and NAT1) within the 20 cM region of 8p11-23. Linkage and association analyses of these SNPs yield suggestive results for markers in FGFR1 (recessive multipoint HLOD 1.07) and BAG4 (recessive multipoint HLOD 1.31). PMID:17366557

  6. Description of the methodology used in an ongoing pediatric care interventional study of children born with cleft lip and palate in South America [NCT00097149

    PubMed Central

    Wehby, George L; Castilla, Eduardo E; Goco, Norman; Rittler, Monica; Cosentino, Viviana; Javois, Lorette; McCarthy, Ann Marie; Bobashev, Georgiy; Litavecz, Stephen; Mariona, Alejandra; Dutra, Graca; López-Camelo, Jorge S; Orioli, Iêda M; Murray, Jeffrey C

    2006-01-01

    Background The contribution of birth defects, including cleft lip and palate, to neonatal and infant mortality and morbidity is substantial. As other mortality and morbidity causes including infections, hygiene, prematurity, and nutrition are eradicated in less developed countries, the burden of birth defects will increase proportionally. Methods/Design We are using cleft lip and palate as a sentinel birth defect to evaluate its burden on neonatal and infant health and to assess the effectiveness of systematic pediatric care during the first month and first two years of life in decreasing this burden. The neonatal intervention, consisting of weekly pediatric evaluation and referral to appropriate care, is delivered to about 696 infants born with cleft lip and/or palate in 47 hospitals in South America. Neonatal mortality in this group will be compared to that in a retrospective control group of about 464 infants born with cleft lip and/or palate in the same hospitals. The subgroup of infants with isolated clefts of both the lip and palate (about 264) is also randomized into two groups, intervened and non-intervened, and further followed up over 2 years. Intervened cases are evaluated by pediatricians every three months and referred for appropriate care. The intervened and non-intervened cases will be compared over study outcomes to evaluate the intervention effectiveness. Non-intervened cases are matched and compared to healthy controls to assess the burden of cleft lip and palate. Outcomes include child's neurological and physical development and family social and economic conditions. Discussion Large-scale clinical trials to improve infant health in developing countries are commonly suggested, making it important to share the methods used in ongoing studies with other investigators implementing similar research. We describe here the content of our ongoing pediatric care study in South America. We hope that this may help researchers targeting this area to plan

  7. Relationship between chin deviation and the position and morphology of the mandible in individuals with a unilateral cleft lip and palate

    PubMed Central

    Kim, Kyung-Seon; Park, Soo-Byung; Kim, Seong-Sik; Kim, Yong-Il

    2013-01-01

    Objective In this study, we aimed to examine the relationship between chin deviation and the positional and morphological features of the mandible and to determine the factors that contributed to chin deviation in individuals with a unilateral cleft lip and palate (UCLP). Methods Cone-beam computed tomography (CBCT) images of 28 adults with UCLP were analyzed in this study. Segmented three-dimensional temporomandibular fossa and mandible images were reconstructed, and angular, linear, and volumetric parameters were measured. Results For all 28 individuals, the chin was found to deviate to the cleft side by 1.59 mm. Moreover, among these 28 individuals, only 7 showed distinct (more than 4 mm) chin deviation, which was toward the cleft side. Compared to the non-cleft side, the mandibular body length, frontal ramal inclination, and vertical position of the condyle were lower and inclination of the temporomandibular fossa was steeper on the cleft side. Furthermore, the differences in inclination of the temporomandibular fossa, mandibular body length, ramus length, and condylar volume ratio (non-deviated/deviated) were positively correlated with chin deviation. Conclusions UCLP individuals show mild chin deviation to the cleft side. Statistical differences were noted in the parameters that represented positional and morphological asymmetries of the mandible and temporomandibular fossa; however, these differences were too small to indicate clinical significance. PMID:24015386

  8. Development of intracranial relations in patients aged 10 to 18 years with clefts of the lip and palate, using cluster analysis.

    PubMed

    Velemínská, J; Müllerová, Z

    2001-01-01

    The investigation is based on a longitudinal cephalometric investigation of lateral teleroentgenographic pictures of male patients with a complete unilateral cleft of the lip and palate. Using cluster analysis the authors investigated the relationship of 75 craniofacial characteristics of size, shape and position during the time interval from 10 to 18 years of age. The main objective of the work was to characterize the development of intracranial relations during the pubertal spurt and compare the final condition in adulthood with a control group. The angle of the cranial base and its effect on the position of the mandibular joint did not change during the investigation period. The relationship between the rotation of the mandible and the inclination of the upper alveolar process with the protrusion of different parts of the skeletal profile also remained constant. Up to adulthood, the rotation of the mandible developed independently of the sagittal intermaxillary relations. The relationship between the sagittal intermaxillary relations and other parts of the face did, however, change. Before the onset of puberty it was influenced most by the reduced length of the maxilla. The inadequacy of maxillary growth was balanced during this period by a change in the shape and position of the mandible. Its adaptative capacities could not compensate later for this uneven development of the jaws potentiated by the pubertal growth spurt. Due to this the intermaxillary relations deteriorated at the end of development in the majority of patients. The association of the restricted vertical maxillary growth with its retroposition was manifested only in adulthood. Intracranial relations of the control group differed from those in the group with clefts. Sagittal intermaxillary and dental relations were not associated in healthy men. As individual probands were not linked by any restriction of growth or development, no close relationship developed between the shape characteristics of

  9. Association between IRF6 and 8q24 polymorphisms and nonsyndromic cleft lip with or without cleft palate: Systematic review and meta‐analysis

    PubMed Central

    Wattanawong, Kachin; McEvoy, Mark; Attia, John; Thakkinstian, Ammarin

    2016-01-01

    Background We conducted a systematic review and meta‐analysis of interferon regulatory factor 6 and 8q24 polymorphisms with nonsyndromic cleft lip with/without cleft palate (NSCL/P). Methods Data extraction was independently performed by two reviewers. Genotypic effects of four polymorphisms from 31 studies were pooled separately by ethnicity using a mixed‐effect logit model with accounting for heterogeneity. Results For rs2235371, AA and GA carried, respectively, 51% (95% confidence interval [CI], 37%–61%) and 42% (95% CI, 32%–50%) lower risks of NSCL/P than GG genotypes in Asians, but these genotypes were not significant in Caucasians. For rs2013162, only AA was significant, that is, carried 0.65 (95% CI, 0.52–0.82) times lower odds than CC in Caucasians but not for Asians. For rs642961, AA and GA genotypes, respectively, carried 2.47 (95% CI, 1.41–4.35) and 1.40 (95% CI, 1.12–1.75) times higher odds in Asian, and 2.03 (95% CI, 1.52–2.71) and 1.58 (95% CI, 1.37–1.82) times higher odds in Caucasians compare with GG genotypes. For rs987525, AA and CA genotypes carried 2.27 (95% CI, 1.43–3.60) and 1.34 (95% CI, 1.02–1.77) times higher odds in Asian, and 5.25 (95% CI, 3.98–6.91) and 2.13 (95% CI–1.82, 2.49) times higher odds in Caucasians, and 1.42 (95% CI, 1.10–1.82) and 1.28 (95% CI, 1.09–1.50) times higher odds in mixed ethnicities compared with CC genotypes. These variant effects remained significant based on applying Bonferroni corrected‐thresholds, except in the mixed ethnicity. Conclusion We show robust variant effects in NSCL/P. Considering them with other genes and risk factors might be useful to improve prediction of NSCL/P occurrence. Birth Defects Research (Part A) 106:773–788, 2016. © 2016 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc. PMID:27511269

  10. CLEFT PALATE. FOUNDATIONS OF SPEECH PATHOLOGY SERIES.

    ERIC Educational Resources Information Center

    RUTHERFORD, DAVID; WESTLAKE, HAROLD

    DESIGNED TO PROVIDE AN ESSENTIAL CORE OF INFORMATION, THIS BOOK TREATS NORMAL AND ABNORMAL DEVELOPMENT, STRUCTURE, AND FUNCTION OF THE LIPS AND PALATE AND THEIR RELATIONSHIPS TO CLEFT LIP AND CLEFT PALATE SPEECH. PROBLEMS OF PERSONAL AND SOCIAL ADJUSTMENT, HEARING, AND SPEECH IN CLEFT LIP OR CLEFT PALATE INDIVIDUALS ARE DISCUSSED. NASAL RESONANCE…

  11. [The risk factors in assessing the overall and local status of children with congenital cleft upper lip and palate before cheiloplasty].

    PubMed

    Khar'kov, L V; Iakovenko, L N

    1997-01-01

    Assessment of the status of more than 2000 children with cleft lip and palate before cheiloplasty brought the authors to a conclusion that obturators should be used as early as possible in perforating defects in order to allow breast feeding and prevent the progress of the deformation; iron-deficiency anemias, thymomegaly, and virus carrier state are to be timely detected and corrected as well as the concomitant developmental defects in order to prevent the postoperative complications.

  12. Oral health related quality of life in cleft lip and palate patients rehabilitated with conventional prostheses or dental implants

    PubMed Central

    Papi, Piero; Giardino, Rita; Sassano, Pierpaolo; Amodeo, Giulia; Pompa, Giorgio; Cascone, Piero

    2015-01-01

    Objectives: Cleft lip and/or palate (CLP) is the most common congenital craniofacial abnormality, with a prevalence of 9.92 per 10,000 live births. In treating patients with CLP, oral rehabilitation is definitely a very important phase of the treatment in order to improve the patient's oral health related quality of life (OH-QoL). The aim of this retrospective study is to assess the OH-QoL in patients rehabilitated with different prosthetic options, thus comparing the conventional treatments, which include removable partial dentures and fixed partial dentures, with the implant-supported prostheses. Materials and Methods: Sixty-three patients were enrolled in this retrospective survey [44 females (69.84%) and 19 males (30.16%)] with a mean age of 34.93 ± 7.04 years (age range 21–53 years). They were all treated for CLP and rehabilitated with a conventional prosthesis or an implant-supported denture. Two different questionnaires were used in the present study to evaluate patients’ OH-QoL: The Italian version of the 49-item Oral Health Impact Profile (OHIP-49) and the Italian version of the Cleft Evaluation Profile (CEP). Statistical analysis was performed using analysis of variance (ANOVA) test, with a significant P < 0,05. Results: Data analysis revealed that patients rehabilitated with implant-supported dentures and fixed partial dentures showed a good level of satisfaction with their prostheses, scoring low values in the OHIP-49 and high values in the CEP, while subjects with removable partial dentures scored the highest values in the OHIP-49 and the lowest values in the CEP, which means an unsatisfactory feeling (P < 0.05). Conclusions: OH-QoL is a challenging demand for all prosthodontists. Our results show, clearly, that patients rehabilitated with implant-supported dentures are more satisfied compared to subjects with fixed partial dentures and removable partial dentures. PMID:26759802

  13. Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family

    PubMed Central

    Cvjetkovic, Nevena; Maili, Lorena; Weymouth, Katelyn S; Hashmi, S Shahrukh; Mulliken, John B; Topczewski, Jacek; Letra, Ariadne; Yuan, Qiuping; Blanton, Susan H; Swindell, Eric C; Hecht, Jacqueline T

    2015-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect affecting 135,000 newborns worldwide each year. While a multifactorial etiology has been suggested as the cause, despite decades of research, the genetic underpinnings of NSCLP remain largely unexplained. In our previous genome-wide linkage study of a large NSCLP African-American family, we identified a candidate locus at 8q21.3-24.12 (LOD = 2.98). This region contained four genes, Frizzled-6 (FZD6), Matrilin-2 (MATN2), Odd-skipped related 2 (OSR2) and Solute Carrier Family 25, Member 32 (SLC25A32). FZD6 was located under the maximum linkage peak. In this study, we sequenced the coding and noncoding regions of these genes in two affected family members, and identified a rare variant in intron 1 of FZD6 (rs138557689; c.-153 + 432A>C). The variant C allele segregated with NSCLP in this family, through affected and unaffected individuals, and was found in one other NSCLP African-American family. Functional assays showed that this allele creates an allele-specific protein-binding site and decreases promoter activity. We also observed that loss and gain of fzd6 in zebrafish contributes to craniofacial anomalies. FZD6 regulates the WNT signaling pathway, which is involved in craniofacial development, including midfacial formation and upper labial fusion. We hypothesize, therefore, that alteration in FZD6 expression contributes to NSCLP in this family by perturbing the WNT signaling pathway. PMID:26436110

  14. Success rate in implant-supported overdenture and implant-supported fixed denture in cleft lip and palate patients

    PubMed Central

    Zanolla, Jaine; Amado, Flávio Monteiro; da Silva, Willian Saranholi; Ayub, Bruno; de Almeida, Ana Lúcia Pompéia Fraga; Soares, Simone

    2016-01-01

    Background: The prosthetic treatment in cleft patients is challenging. Based on this, the aim of this study was to evaluate the longevity of prosthetic rehabilitation treatment with implant-supported overdenture (IOD) and implant-supported fixed denture (IFD) in cleft lip and palate patients in a period of 22 years. Materials and Methods: The medical records of 72 patients were analyzed (29 males and 43 females), and the survival rate of the implants was evaluated. Moreover, the prostheses’ time of use and the reason for the changing of these were also evaluated. Results: Four-hundred-seventeen implants were installed, and 370 implants survive today. The mean survival time of the implants was 7.6 years. Regarding the 97 prostheses made, the time of average use was 3.28 for the IFDs and 3.92 for IODs. The reasons for the replacements of the prostheses were mainly: fracture of the acrylic base (29.6%) and loss of vertical dimension of occlusion (VDO) (18.5%) in the IFDs. Moreover, in IODs, these were accounted for the loss of VDO due to teeth damage (17.2%) and implant loss (14.6%). Conclusions: The maintenance of the prostheses was challenging because the patients had difficulties returning for periodic control, but this fact did not result in the decrease of the success rate of the implants. The longevity of implants and prostheses was satisfactory; however, the prostheses showed repetitions mainly due to the wear of the teeth, with decreased vertical dimension and fracture of acrylic base. PMID:28299262

  15. Secondary alveolar bone grafting in cleft of the lip and palate patients

    PubMed Central

    Walia, Abhilashaa

    2011-01-01

    Aim: The aim was to restore the function and form of both arches with a proper occlusal relationship and eruption of tooth in the cleft area. Materials and Methods: Eleven patients were selected irrespective of sex and socio-economic status and whose age was within the mixed dentition period. Iliac crest is grafted in cleft area and subsequently evaluated for graft success using study models, and periapical and occlusal radiographs. Results: At the time of evaluation teeth were erupted in the area and good alveolar bone levels were present. Premaxilla becomes immobile with a good arch form and arch continuity. There are no major complications in terms of pain, infection, paraesthesia, hematoma formation at donor site without difficulty in walking. There is no complication in terms of pain, infection, exposure of graft, rejection of graft, and wound dehiscence at the recipient site. Discussion: It is evident that secondary alveolar grafting during the mixed dentition period is more beneficial for patients at the donor site as well as the recipient site. Conclusion: Long-term follow-up is required to achieve maximum advantage of secondary alveolar grafting; the age of the patient should be within the mixed dentition period, irrespective of sex, socio-economic status. It may be unilateral or bilateral. PMID:22090755

  16. Presurgical orthopaedic nasoalveolar molding in cleft lip and palate infants: a comparative evaluation of cases done with and without nasal stents.

    PubMed

    Punga, Rohit; Sharma, S M

    2013-09-01

    Addressing the craniofacial anomaly of cleft lip and palate presurgically has been done since more than 50 years now, with a constant improvisation of the treatment protocols from time to time. The present study deals with a modification of the technique devised 16 years ago. The effect of nasal stents attached to a pre-surgical naso-alveolar molding (PNAM) appliance on the nasal morphology achieved prior to primary surgical correction of the cleft lip was to be evaluated. Twenty subjects, infants with cleft lip and palate, less than 2 months of age were selected for presurgical nasoalveolar molding treatment. Impressions were recorded, casts made and PNAM appliance fabricated. Ten infants were given the appliance without nasal stents and to the other ten appliances nasal stents were added. The patients were recalled every 2-3 weeks and a series of 9 measurements were recorded every visit along with adjustments made to the appliance for desirable effects on the lip, alveolus and nose. This was carried out till the patient was taken up for lip repair. The final measurements obtained at the end of the presurgical treatment were recorded. Mann-Whitney test, between study and control group showed that the increase in the columella length was statistically significant (p = 0.0001 and p = 0.033) in the study group as compared to the control group. Also the increase of the nasal tip projection (mean = 1.30 mm) in the study group was found to be statistically significant (p = 0.006) as compared to the control group. We concluded that nasal stents attached to the alveolar molding appliance, yield significant improvement of the nasal morphology and better nasal aesthetics presurgically.

  17. Difference in the Surgical Outcome of Unilateral Cleft Lip and Palate Patients with and without Pre-Alveolar Bone Graft Orthodontic Treatment

    NASA Astrophysics Data System (ADS)

    Chang, Chun-Shin; Wallace, Christopher Glenn; Hsiao, Yen-Chang; Chiu, Yu-Ting; Pai, Betty Chien-Jung; Chen, I.-Ju; Liao, Yu-Fang; Liou, Eric Jen-Wein; Chen, Philip Kuo-Ting; Chen, Jyh-Ping; Noordhoff, M. Samuel

    2016-04-01

    Presurgical orthodontic treatment before secondary alveolar bone grafting (SABG) is widely performed for cleft lip/palate patients. However, no randomized controlled trial has been published comparing SABG outcomes in patients with, and without, presurgical orthodontic treatment. This randomized, prospective, single-blinded trial was conducted between January 2012 and April 2015 to compare ABG volumes 6 months postoperatively between patients with and without presurgical orthodontic treatment. Twenty-four patients were enrolled and randomized and 22 patients completed follow-up. Patients who had presurgical orthodontics before SABG had significantly improved inclination (p < 0.001) and rotation (p < 0.001) of the central incisor adjacent to the defect, significantly improved ABG fill volume (0.81 ± 0.26 cm3 at 6 months compared to 0.59 ± 0.22 cm3 p < 0.05) and less residual alveolar bone defect (0.31 ± 0.08 cm3 at 6 months compared to s 0.55 ± 0.14 cm3 p < 0.001) compared to patients who did not have presurgical orthodontic treatment. In conclusion, orthodontic treatment combined with SABG results in superior bone volume when compared with conventional SABG alone.

  18. Difference in the Surgical Outcome of Unilateral Cleft Lip and Palate Patients with and without Pre-Alveolar Bone Graft Orthodontic Treatment.

    PubMed

    Chang, Chun-Shin; Wallace, Christopher Glenn; Hsiao, Yen-Chang; Chiu, Yu-Ting; Pai, Betty Chien-Jung; Chen, I-Ju; Liao, Yu-Fang; Liou, Eric Jen-Wein; Chen, Philip Kuo-Ting; Chen, Jyh-Ping; Noordhoff, M Samuel

    2016-04-04

    Presurgical orthodontic treatment before secondary alveolar bone grafting (SABG) is widely performed for cleft lip/palate patients. However, no randomized controlled trial has been published comparing SABG outcomes in patients with, and without, presurgical orthodontic treatment. This randomized, prospective, single-blinded trial was conducted between January 2012 and April 2015 to compare ABG volumes 6 months postoperatively between patients with and without presurgical orthodontic treatment. Twenty-four patients were enrolled and randomized and 22 patients completed follow-up. Patients who had presurgical orthodontics before SABG had significantly improved inclination (p < 0.001) and rotation (p < 0.001) of the central incisor adjacent to the defect, significantly improved ABG fill volume (0.81 ± 0.26 cm(3) at 6 months compared to 0.59 ± 0.22 cm(3); p < 0.05) and less residual alveolar bone defect (0.31 ± 0.08 cm(3) at 6 months compared to s 0.55 ± 0.14 cm(3); p < 0.001) compared to patients who did not have presurgical orthodontic treatment. In conclusion, orthodontic treatment combined with SABG results in superior bone volume when compared with conventional SABG alone.

  19. [Cleft lip and palate. The semantic conception for informatics. The Cleftor program].

    PubMed

    Rivoalan, F; Poupard, B

    1988-01-01

    The authors present the creation of a computed programme (Cleftor) which examines the terminology used in the pathology of cleft palates. The malformed anatomy is simplified and superimposed with embryological data. A classification which includes all possible malformation is used. Surgical treatment had also advanced, gestures practised in the past are reviewed and defined to give authors a common basis for discussion when it is time to appreciate results concerning such or such methods or techniques. Thanks to a strict control of facts; the programme gives another idea of the treatment and above all, of the results from that can be called chronic pathology. The Cleftor programme is also a means of communication creating perhaps a supplementary chance of success for a treatment that everyone admits to and considers as always difficult.

  20. Computer-Assisted Orthognathic Surgery for Patients with Cleft Lip/Palate: From Traditional Planning to Three-Dimensional Surgical Simulation

    PubMed Central

    Lonic, Daniel; Pai, Betty Chien-Jung; Yamaguchi, Kazuaki; Chortrakarnkij, Peerasak; Lin, Hsiu-Hsia; Lo, Lun-Jou

    2016-01-01

    Background Although conventional two-dimensional (2D) methods for orthognathic surgery planning are still popular, the use of three-dimensional (3D) simulation is steadily increasing. In facial asymmetry cases such as in cleft lip/palate patients, the additional information can dramatically improve planning accuracy and outcome. The purpose of this study is to investigate which parameters are changed most frequently in transferring a traditional 2D plan to 3D simulation, and what planning parameters can be better adjusted by this method. Patients and Methods This prospective study enrolled 30 consecutive patients with cleft lip and/or cleft palate (mean age 18.6±2.9 years, range 15 to 32 years). All patients received two-jaw single-splint orthognathic surgery. 2D orthodontic surgery plans were transferred into a 3D setting. Severe bony collisions in the ramus area after 2D plan transfer were noted. The position of the maxillo-mandibular complex was evaluated and eventually adjusted. Position changes of roll, midline, pitch, yaw, genioplasty and their frequency within the patient group were recorded as an alternation of the initial 2D plan. Patients were divided in groups of no change from the original 2D plan and changes in one, two, three and four of the aforementioned parameters as well as subgroups of unilateral, bilateral cleft lip/palate and isolated cleft palate cases. Postoperative OQLQ scores were obtained for 20 patients who finished orthodontic treatment. Results 83.3% of 2D plans were modified, mostly concerning yaw (63.3%) and midline (36.7%) adjustments. Yaw adjustments had the highest mean values in total and in all subgroups. Severe bony collisions as a result of 2D planning were seen in 46.7% of patients. Possible asymmetry was regularly foreseen and corrected in the 3D simulation. Conclusion Based on our findings, 3D simulation renders important information for accurate planning in complex cleft lip/palate cases involving facial asymmetry that is

  1. Postnatal treatment factors affecting craniofacial morphology of unilateral cleft lip and palate (UCLP) patients in a Japanese population.

    PubMed

    Alam, M K; Iida, J; Sato, Y; Kajii, Takashi S

    2013-12-01

    We have evaluated the craniofacial morphology of Japanese patients with unilateral cleft lip and palate (UCLP) and assessed the various postnatal factors that affect it. Lateral cephalograms of 140 subjects (mean (SD) aged 7 (2) years) with UCLP were taken before orthodontic treatment. Surgeons from Hokkaido University Hospital had done the primary operations. The craniofacial morphology was assessed by angular and linear cephalometric measurements. Cheiloplasty, palatoplasty, and preoperative orthopaedic treatment were chosen as postnatal factors. To compare the assessments of the postnatal factors, we made angular and linear cephalometric measurements for each subject and converted them into Z scores in relation to the mean (SD) of the two variables. Subjects treated by the modified Millard cheiloplasty had larger sella-nasion-point A (SNA) and nasion-point A-pogonion (NA-POG) measurements than subjects treated by the modified Millard with a vomer flap cheiloplasty. Two-stage palatoplasty showed consistently better craniofacial morphology than the other palatoplasty. Subjects who had preoperative orthopaedic treatment with a Hotz plate had significantly larger upper incisor/sella-nasion (U1-SN) measurements than who had no preoperative orthopaedic treatment or an active plate. We conclude that in subjects treated by a modified Millard type of cheiloplasty, a two-stage palatoplasty, and a Hotz plate there were fewer adverse effects on craniofacial morphology.

  2. Bilateral cleft lip and palate: A morphometric analysis of facial skeletal form using cone beam computed tomography.

    PubMed

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

    2015-07-01

    Bilateral cleft lip and palate (BCLP) is caused by a lack of merging of maxillary and nasal facial prominences during development and morphogenesis. BCLP is associated with congenital defects of the oronasal facial region that can impair ingestion, mastication, speech, and dentofacial development. Using cone beam computed tomography (CBCT) images, 7- to 18-year old individuals born with BCLP (n = 15) and age- and sex-matched controls (n = 15) were retrospectively assessed. Coordinate values of three-dimensional facial skeletal anatomical landmarks (n = 32) were measured from each CBCT image. Data were evaluated using principal coordinates analysis (PCOORD) and Euclidean Distance Matrix Analysis (EDMA). PCOORD axes 1-3 explain approximately 45% of the morphological variation between samples, and specific patterns of morphological differences were associated with each axis. Approximately, 30% of facial skeletal measures significantly differ by confidence interval testing (α = 0.10) between samples. While significant form differences occur across the facial skeleton, strong patterns of differences are localized to the lateral and superioinferior aspects of the nasal aperture. In conclusion, the BCLP deformity significantly alters facial skeletal morphology of the midface and oronasal regions of the face, but morphological differences were also found in the upper facial skeleton and to a lesser extent, the lower facial skeleton. This pattern of strong differences in the oronasal region of the facial skeleton combined with differences across the rest of the facial complex underscores the idea that bones of the craniofacial skeleton are integrated.

  3. [The surgical treatment of mandibular prognathism after the elimination of congenital clefts of the upper lip and palate].

    PubMed

    Kozlov, V A; Filatov, A V

    1994-01-01

    In 4.47% of observation in patients after liquidation of the cleft lip and the palate the lower prognathia is diagnosed. From 77 patients being operated for lower prognathia such kind of patients were 7. The subsequence of the treatment measures is the following: correction of the upper jaw on the basis of compactostetomy and it's subsequent widening with orthodontic devices. In case of impossibility of sufficient widening of the dental arch the removable dental prosthesis is made for application on the upper jaw with doubling dental row accounting achievement of the desired bite. At the second stage the osteotomy of the upper jaw brunch and sagittal removement of the central section back are carried out up to achievement of the neutral bite. In dependence on jaw sagittal removement degree operative treatment may be performed by the intravial (I degree) or extravial method (II-III progemy degrees). Quite satisfactory remote results are presented. The paper is illustrated by 4 figures. The list of literature is given.

  4. Patients and professionals have different views on online patient information about cleft lip and palate (CL/P).

    PubMed

    van den Bosch, S; Koudstaal, M; Versnel, S; Maal, T; Xi, T; Nelen, W; Bergé, S; Faber, M

    2016-06-01

    Parents of children with a cleft lip and/or palate (CL/P) and patients with CL/P actively search for online information about CL/P. The quality of this information has not been sufficiently evaluated. The aim of this study was to define quality criteria for online information about CL/P and assess the quality of frequently accessed websites. Patients, parents, and professionals were equally involved in all stages of this study. A literature review was performed to obtain known quality criteria for online information. These criteria were prioritized by patients, parents, and professionals. The most important criteria were used to rate the quality of four websites on CL/P. Forty-two quality items were extracted from the literature. Patients, parents, and professionals agreed on the importance of 16 of these items. New groups of patients, parents, and professionals assessed four websites on CL/P. Although the groups were like-minded in their overall assessment of the quality of the websites, distinct differences emerged between the groups in relation to certain items. This study shows the importance of patient participation in healthcare research, as well as a feasible approach to do so. Involving patients in composing online health information will set different priorities, which is necessary in establishing high quality information.

  5. Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations.

    PubMed

    Sasaki, Ryo; Saito, Kayoko; Watanabe, Yorikatsu; Takayama, Yoshinaga; Fujii, Katsunori; Agawa, Kaori; Miyashita, Toshiyuki; Ando, Tomohiro; Akizuki, Tanetaka

    2009-07-01

    Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder characterized by developmental abnormalities and a predisposition to cancers. Two unrelated patients, 21- and 16-year-old males, with cleft lip and palate and multiple jaw cysts, were diagnosed according to clinical criteria. To confirm a diagnosis of NBCCS, we undertook a molecular genetic analysis of the PTCH gene. Their PTCH genes were analyzed by direct sequencing of the PCR product from their DNA, and previously unreported mutations were identified. A heterozygous duplication at the nucleotide position between 3325 and 3328 of the PTCH gene (c.3325_3328dupGGCG) was detected in the 21-year-old patient. It caused a frameshift mutation, resulting in a premature termination of the PTCH protein. A point mutation (G to C) in intron 7 of the PTCH gene (c.1067+1G>C) was detected in the 16-year-old patient. This caused an aberrant splicing of PTCH. It is interesting to note that the non-canonical cryptic splice-donor site was activated, which did not conform to the GT-AG rule.

  6. Prosthodontic Management in Conjunction with Speech Therapy in Cleft Lip and Palate: A Review and Case Report

    PubMed Central

    Dhakshaini, M R; Pushpavathi, M; Garhnayak, Mirna; Dhal, Angurbala

    2015-01-01

    Cleft lip and palate (CLP), a congenital disturbance needs a lot of attention with respect to its rehabilitation as a person suffering from this defect can lead a normal life given with the right type of treatment at the right time. However, if a patient cannot get surgical treatment at the appropriate time either due to availability or economic constraints, it is still possible to improve their social and psychological well-being with prosthodontic rehabilitation. The literature search was carried out through PubMed and Google scholar and manual search. The articles related to prosthodontic treatment in congestion with speech therapy and some articles on psychological assessment were considered The available prosthodontic treatment options for improvement of speech is discussed and highlighted the importance of prosthetic management of such patients along with a speech therapist. Also, a review of the available prosthetic treatment options is discussed in detail. Finally, a case report of a CLP patient treated prosthodontically with the assistance of speech pathologist is presented. PMID:26668496

  7. A Health Systems Perspective on the Mission Model for Cleft Lip and Palate Surgery: A Matter of Sustainability or Responsibility?

    PubMed

    Carlson, Lucas Cummings; Hatcher, Kristin Ward; Vanderburg, Richard; Ayala, Ruben Eduardo; Mbugua Kabetu, Charles Edward; Magee, William P; Magee, William P

    2015-06-01

    One in 700 children around the world are born with cleft lip and/or palate (CL/P). Although reconstructive surgery is widely available in high-income settings, over 2 billion people in low- and middle-income countries lack access to essential surgical care. The mission model has been demonstrated to be highly effective in responding to the global surgical workforce crisis, but has been questioned in regard to its sustainability, value, and overall impact. Through effective health systems integration, the mission model presents abundant opportunities for streamlined delivery and horizontal impact. Still, the primary goal of the mission model is direct care delivery; and although the value of sustainability is indisputably vital, we contend that the mission model, when executed responsibly, creates high-value, sustained impact on the individual lives of those presently in need. We furthermore advocate for the sustained commitment of implementing organizations, patient safety, local integration, and a new focus on patient centeredness as key elements of the responsible mission model.

  8. Prosthodontic Management in Conjunction with Speech Therapy in Cleft Lip and Palate: A Review and Case Report.

    PubMed

    Dhakshaini, M R; Pushpavathi, M; Garhnayak, Mirna; Dhal, Angurbala

    2015-01-01

    Cleft lip and palate (CLP), a congenital disturbance needs a lot of attention with respect to its rehabilitation as a person suffering from this defect can lead a normal life given with the right type of treatment at the right time. However, if a patient cannot get surgical treatment at the appropriate time either due to availability or economic constraints, it is still possible to improve their social and psychological well-being with prosthodontic rehabilitation. The literature search was carried out through PubMed and Google scholar and manual search. The articles related to prosthodontic treatment in congestion with speech therapy and some articles on psychological assessment were considered The available prosthodontic treatment options for improvement of speech is discussed and highlighted the importance of prosthetic management of such patients along with a speech therapist. Also, a review of the available prosthetic treatment options is discussed in detail. Finally, a case report of a CLP patient treated prosthodontically with the assistance of speech pathologist is presented.

  9. Cleft Lip and Cleft Palate

    MedlinePlus

    ... an ENT News About Us Our Campaigns Foundation Governance Diversity Honorary Awards & Lectures Specialty Society Advisory Council ... Disclosure Form News About Us Our Campaigns Foundation Governance Diversity Honorary Awards & Lectures Specialty Society Advisory Council ...

  10. Prenatal diagnosis of cleft lip/palate: The surface rendered oro-palatal (SROP) view of the fetal lips and palate, a tool to improve information-sharing within the orofacial team and with the parents.

    PubMed

    Levaillant, Jean-Marc; Nicot, Romain; Benouaiche, Laurence; Couly, Gérard; Rotten, Daniel

    2016-07-01

    The ultrasonographic surface rendered oro-palatal (SROP) view is a 3D reconstructed view of the fetal perioral region, which combines ultrasound insonation in a trans oral, upward directed axial direction and the surface rendered mode. It allows the simultaneous visualization on a single scan of the superior lip, alveolar ridge and secondary palate. It corresponds prenatally to the submental intra oral photography of the palate of neonates. The aim of the study was to demonstrate the benefice of using the SROP view in the management of cleft lip with or without cleft palate, uni- or bi-lateral, diagnosed prenatally (22-28 gestational weeks). The SROP view allowed the representation on a single view of the characteristics of the defect useful to the different members of the orofacial team to exactly evaluate the difformity and to plan the ulterior therapeutic steps (e.g. side, extension of the cleft to the secondary palate, tooth organization). Also, being easier to read by lay people thanks to the use of a surface rendered representation rather than the usual multiplanar reconstructions in the three traditional orthogonal planes, the SROP view makes it easier to bring exact information to the parents about the malformation and its consequences.

  11. Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio.

    PubMed

    Moreno, Lina M; Arcos-Burgos, Mauricio; Marazita, Mary L; Krahn, Katherine; Maher, Brion S; Cooper, Margaret E; Valencia-Ramirez, Consuelo R; Lidral, Andrew C

    2004-03-01

    Non-syndromic cleft lip with or without cleft palate (CL/P) is a genetically complex birth defect, with a prevalence from 1/500 to 1/1,000 live births. Evidence from linkage and linkage disequilibrium studies is contradictory suggesting that heterogeneity between study populations may exist. A recent report of a genome widescan in 92 sib pairs from the United Kingdom revealed suggestive linkage to 10 loci [Prescott et al., 2000]. The purpose of this study is to replicate those results and evaluate additional candidate genes in 49 Colombian and 13 Ohio families. Genotypes were obtained for STRPs at 1p36, 2p13 (TGFA), 4p16 (MSX1), 6p23-25, 6q25-27, 8q23-24, 11p12-q13, 12q13, 14q24 (TGFB3), 16q22-24, 17q12-21 (RARA), and Xcen-q21. Linkage was performed using parametric (dominant and recessive models) and non-parametric (GenehunterNPL and SimIBD) analyses. In addition, heterogeneity was analyzed using GenehunterHLOD, and association determined by the TDT. The Colombian families showed significant SimIBD results for 11p12-q13 (P = 0.034), 12q13 (P = 0.015), 16q22-24 (0.01), and 17q12-21 (0.009), while the Ohio families showed significant SimIBD results for 1p36 (P = 0.02), TGFA (P = 0.005), 6p23 (P = 0.004), 11p12-q13 (P = 0.048) and significant NPL results for TGFA (NPL = 3.01, P = 0.009), 4p16 (MNPL = 2.07, P = 0.03) and 12q13 (SNPL = 3.55, P = 0.007). Significant association results were obtained only for the Colombian families in the regions 1p36 (P = 0.046), 6p23-25 (P = 0.020), and 12q13 (P = 0.046). In addition several families yielded LOD scores ranging from 1.09 to 1.73, for loci at 4p16, 6p23-25, 16q22-24, and 17q13. These results confirm previous reports for these loci. However, the differences between the two populations suggest that population specific locus heterogeneity exists. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.

  12. Lip adhesion revisited: A technical note with review of literature

    PubMed Central

    Nagy, Krisztián; Mommaerts, Maurice Y.

    2009-01-01

    Context (Background): Lip adhesion is a direct edge approximation without changing lip landmarks or disturbing tissue required for definitive closure. This converts a complete cleft into an incomplete cleft, facilitating and enhancing subsequent definitive lip and nose repair. Aim: The study aims to describe our technique of lip adhesion and its morbidity, and discuss the rationale for its use. Settings and Design: Retrospective follow-up study of complete clefts operated upon in the Bruges Cleft and Craniofacial Centre, at the supra regional teaching hospital AZ St. Jan, Bruges, between June 1, 1991 and May 1, 2009. Methods and Material: The group comprised 33 unilateral and 24 bilateral lip adhesion procedures. The medical files were reviewed for changes in surgical technique, morbidity, and complications and their treatment. Results: The lip adhesion procedure was performed at the age of two to eight weeks postnatal, and definitive lip closure, at the age of four to six months. In all cases, segment repositioning was further controlled by a palatal guidance plate. Wound dehiscence occurred in eight patients (14.0%), and three patients (5.3%) required reoperation. Conclusions: Although complications occurred, the beneficial effects of lip adhesion in combination with a guidance plate outweighed the risks for anatomical reconstruction of a platform for definitive lip and nose repair. Modifications are suggested to reduce these complications. PMID:20368859

  13. Complete sternal cleft — A rare congenital malformation and its repair in a 3-month-old boy: A case report

    PubMed Central

    Kothari, Paras; Gupta, Abhaya; Patil, Prashant S.; Kekre, Geeta; Kamble, Ravi; Dikshit, Kiran Vishesh

    2016-01-01

    Complete midline sternal cleft is a rare congenital anomaly resulting from failed midline ventral fusion of the sternal bars. Very few cases of complete sternal cleft have been described in literature. We present a case of complete sternal cleft in a 3-month-old child. The patient underwent primary closure of the defect using stainless steel wires. PMID:27046980

  14. Measuring and Comparing the Cost-Effectiveness of Surgical Care Delivery in Low-Resource Settings: Cleft Lip and Palate as a Model.

    PubMed

    Hackenberg, Berit; Ramos, Margarita S; Campbell, Alexander; Resch, Stephen; Finlayson, Samuel R G; Sarma, Hiteswar; Howaldt, Hans-Peter; Caterson, E J

    2015-06-01

    Cleft lip and palate (CLP) care is the longest sustained global effort in humanitarian surgical care. However, the relative cost-effectiveness of surgical delivery approaches remains largely unknown. We assessed the cost-effectiveness of two strategies of CLP surgical care delivery in low resource settings: medical mission and comprehensive care center. We evaluated the medical records and costs for 17 India-based medical missions and a Comprehensive Cleft Care Center in Guwahati, India, from Operation Smile, a humanitarian nongovernmental organization. Age, sex, diagnosis, and procedures were extracted and cost/Disability-Adjusted Life Year (DALY) averted was calculated using a provider's perspective. The disability weights for CLP from the Global Burden of Disease (GBD) 2010 update were used as the reference case. Sensitivity analysis was performed using various disability weights, age-weighting, discounting, and cost perspective. The medical missions treated 3503 patients for first-time cleft procedures and averted 6.00 DALYs per intervention with a cost-effectiveness of $247.42/DALY. The care center cohort included 2778 patients with first-time operations for CLP and averted a mean of 5.96 DALYs per intervention with a cost-effectiveness of $189.81/DALY. The Incremental Cost-Effectiveness Ratio (ICER) of choosing medical mission over care center is $462.55. The care center provides cleft care with a higher cost-effectiveness, although both models are highly cost-effective in India, in accordance with WHO guidelines. Compared to other global health interventions, cleft care is very cost-effective and investment in cleft surgery might be realistic and achievable in similar resource-constrained environments.

  15. Feeding intervention in cleft lip and palate babies: a practical approach to feeding efficiency and weight gain.

    PubMed

    Ize-Iyamu, I N; Saheeb, B D

    2011-09-01

    Using a disposable syringe to feed 1-14-week-old babies with cleft lip and palate (CLP) was studied. 57 CLP babies were randomly divided into: syringe-fed (intervention) and cup-and-spoon-fed groups and compared with 55 normal breast- or bottle-fed babies. Differences in weight gained from birth to 6, 10 and 14 weeks were compared. Syringe-fed CLP babies fed breast milk had a significant difference in weight gain (0.7 and 0.8 kg) compared with cup-and-spoon-fed babies (0.4 kg), at 10 and 14 weeks, respectively. Normal breast-fed babies gained 0.6 and 0.7 kg. Cup-and-spoon-fed CLP babies fed artificial and breast milk gained 0.5 and 0.6 kg; syringe-fed CLP babies gained 0.6 and 1.2 kg. Normal babies gained 1.0 and 1.7 kg for the same age and food. Average feeding times were 10 ml/1.25 min for syringe-fed and 10 ml/2.08 min for cup-and-spoon-fed CLP babies at 6 weeks. 19 (100%) cup-and-spoon-fed babies exhibited spill and regurgitation at 6 weeks compared with 30 (79%) CLP syringe-fed babies (P<0.05). In both groups spill and regurgitation decreased with age. CLP babies fed with the modified method had a faster feeding time, less spill and regurgitation and gained the same weight as normal babies at 10 and 14 weeks.

  16. Conference Report: International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate (AEC) Syndrome

    PubMed Central

    Fete, Mary; vanBokhoven, Hans; Clements, Suzanne; McKeon, Frank; Roop, Dennis R.; Koster, Maranke I.; Missero, Caterina; Attardi, Laura D.; Lombillo, Vivian A.; Ratovitski, Edward; Julapalli, Meena; Ruths, Derek; Sybert, Virginia P.; Siegfried, Elaine C.; Bree, Alanna F.

    2009-01-01

    Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) Syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the p63 gene, known to be a regulatory gene with many downstream gene targets. TP63 is important in the differentiation and proliferation of the epidermis, as well as many other processes including limb and facial development. It is also known that mutations in p63 lead to skin erosions. These erosions, especially on the scalp, are defining features of AEC syndrome and cause significant morbidity and mortality in these patients. It was this fact that led to the 2003 AEC Skin Erosion Workshop. That conference laid the groundwork for the International Research Symposium for AEC Syndrome held at Texas Children's Hospital in 2006. The conference brought together the largest cohort of individuals with AEC syndrome, along with a multitude of physicians and scientists. The overarching goals were to define the clinical and pathologic findings for improved diagnostic criteria, to obtain tissue samples for further study and to define future research directions. The symposium was successful in accomplishing these aims as detailed in this conference report. Following our report, we also present eleven manuscripts within this special section that outline the collective clinical, pathologic and mutational data from eighteen individuals enrolled in the concurrent Baylor College of Medicine IRB-approved protocol: Characterization of AEC syndrome. These collaborative findings will hopefully provide a stepping stone to future translational projects of p63 and p63-related syndromes. PMID:19353643

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

    PubMed Central

    Liu, Luwei; Zhang, Qian; Lin, Jiuxiang; Ma, Lian; Zhou, Zhibo; He, Xuesong; Jia, Yilin; Chen, Feng

    2016-01-01

    In this study, we sought to investigate the oral microbiota structure of children with cleft lip and palate (CLP) and explore the pre-operative oral bacterial composition related to the prognosis of alveolar bone grafting. In total, 28 patients (19 boys, 9 girls) with CLP who were scheduled to undergo alveolar bone grafting for the first time were recruited. According to the clinical examination of operative sites at the third month after the operation, the individuals were divided into a non-inflammation group (n = 15) and an inflammation group (n = 13). In all, 56 unstimulated saliva samples were collected before and after the operation. The v3-v4 hypervariable regions of the 16S rRNA gene were sequenced using an Illumina MiSeq sequencing platform. Based on the beta diversity of the operational taxonomic units (OTUs) in the inflammation and non-inflammation samples, the microbial variation in the oral cavity differed significantly between the two groups before and after the operation (P < 0.05). Analysis of the relative abundances of pre-operative OTUs revealed 26 OTUs with a relative abundance higher than 0.01%, reflecting a significant difference of the relative abundance between groups (P < 0.05). According to a principal component analysis of the pre-operative samples, the inflammation-related OTUs included Tannerella sp., Porphyromonas sp., Gemella sp., Moraxella sp., Prevotella nigrescens, and Prevotella intermedia, most of which were enriched in the inflammation group and showed a significant positive correlation. A cross-validated random forest model based on the 26 different OTUs before the operation was able to fit the post-operative status of grafted sites and yielded a good classification result. The sensitivity and specificity of this classified model were 76.9% and 86.7%, respectively. These findings show that the oral microbiota profile before alveolar bone grafting may be related to the risk of post-operative inflammation at grafted sites. PMID

  18. A cephalometric intercentre comparison of patients with unilateral cleft lip and palate at 5 and 10 years of age.

    PubMed

    Del Guercio, Filomena; Meazzini, Maria Costanza; Garattini, Giovanna; Morabito, Alberto; Semb, Gunvor; Brusati, Roberto

    2010-02-01

    The aim of this study was to evaluate any differences between the craniofacial growth of unilateral cleft lip and palate (UCLP) patients who underwent surgery in the Milan CLP centre with those from the Oslo CLP centre at 5 and 10 years of age. The Milan sample comprised 88 UCLP patients (60 males, 28 females) at 5 years of age and 26 patients (17 males, 9 females) at 10 years of age all operated on by the same surgeon. The Oslo sample consisted of 48 UCLP patients (26 males, 22 females) aged 5 years and 29 patients (20 males, 9 females) aged 10 years treated by four different surgeons. Lateral cephalometric radiographs obtained for both samples were analysed and angular measurements and ratios were calculated both for the hard and soft tissues. Statistical analysis was undertaken with an unpaired t-test. At 5 years of age, there were neither sagittal nor vertical hard tissue differences between the two groups. With regard to the soft tissues, only the naso-labial angle showed a statistically significant difference (Milan greater than Oslo by 5 degrees, P < 0.01). At 10 years of age, both SNA and ANB differences were larger in the Oslo group than in the Milan group, >2.6 degrees, P < 0.01 and >2.9 degrees, P < 0.001, respectively. At 5 years of age, the Milan UCLP sample had the same maxillary protrusion as the Oslo group, while at 10 years of age, the Milan sample were slightly less protruded than the Oslo group.

  19. Understanding Cleft and Craniofacial Team Care

    MedlinePlus

    ... Donor Spotlight Fundraising Ideas Vehicle Donation Volunteer Efforts Cleft Lip/Palate & Craniofacial Specialists in Your Area skip to submenu Parents & Individuals Cleft Lip/Palate & Craniofacial Specialists in Your Area Team Disclaimer States: ...

  20. Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate

    PubMed Central

    Leslie, Elizabeth J.; Arzi, Boaz; Willet, Cali E.; Cox, Timothy C.; McHenry, Toby; Narayan, Nicole; Feingold, Eleanor; Wang, Xioajing; Sliskovic, Saundra; Karmi, Nili; Safra, Noa; Sanchez, Carla; Deleyiannis, Frederic W. B.; Murray, Jeffrey C.; Wade, Claire M.; Marazita, Mary L.; Bannasch, Danika L.

    2015-01-01

    Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10-13; adjusted p= 2.2 x 10-3). Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 – 10.73 Mb) segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS) in 13 cases. Whole-genome sequencing of 3 CLPS cases and 4 controls at 15X coverage led to the discovery of a frameshift mutation within ADAMTS20 (c.1360_1361delAA (p.Lys453Ilefs*3)), which segregated concordant with the phenotype. In a parallel study in humans, a family-based association analysis (DFAM) of 125 CL/P cases, 420 unaffected relatives, and 392 controls from a Guatemalan cohort, identified a suggestive association (rs10785430; p =2.67 x 10-6) with the same gene, ADAMTS20. Sequencing of cases from the Guatemalan cohort was unable to identify a causative mutation within the coding region of ADAMTS20, but four coding variants were found in additional cases of CL/P. In summary, this study provides genetic evidence for a role of ADAMTS20 in CL/P development in dogs and as a candidate gene for CL/P development in humans. PMID:25798845

  1. A case of false median cleft of upper lip with IV-A holoprosencephaly that underwent cheiloplasty at 2.5 years of age.

    PubMed

    Kobayashi, J; Arai, N; Kiyosaki, I; Uzawa, N; Ishii, J; Yoshimasu, H; Amagasa, T

    2000-11-01

    Holoprosencephaly results from the incomplete development of midline structures within the cerebrum and encompasses a series of abnormalities of mid-facial development. Here, we report a case of male holoprosencephaly associated with false median cleft of upper lip. This patient belonged clinically to the DeMyer's group IV holoprosencephaly, semilobar type. An infant with this type of holoprosencephaly has been thought to die generally within 1 to 2 years after birth and to rarely benefit from an operation. In this case, the patient had cheiloplasty at the age of 2.5 years at the request of his parents and he lives currently, being 3 years and 2 months old.

  2. Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP) - Part 5: Institutional outcomes assessment and the role of the Laboratory of Physiology

    PubMed Central

    FREITAS, José Alberto de Souza; TRINDADE-SUEDAM, Ivy Kiemle; GARIB, Daniela Gamba; NEVES, Lucimara Teixeira das; de ALMEIDA, Ana Lúcia Pompéia Fraga; YAEDÚ, Renato Yassukata Faria; OLIVEIRA, Thaís Marchini; SOARES, Simone; LAURIS, Rita de Cássia Moura Carvalho; YAMASHITA, Renata Paciello; TRINDADE JR, Alceu Sergio; TRINDADE, Inge Elly Kiemle; PINTO, João Henrique Nogueira

    2013-01-01

    The Laboratory of Physiology provides support for the diagnosis of functional disorders associated with cleft lip and palate and also conducts studies to assess, objectively, the institutional outcomes, as recommended by the World Health Organization. The Laboratory is conceptually divided into three units, namely the Unit for Upper Airway Studies, Unit for Stomatognathic System Studies and the Unit for Sleep Studies, which aims at analyzing the impact of different surgical and dental procedures on the upper airways, stomatognathic system and the quality of sleep of individuals with cleft lip and palate. This paper describes the main goals of the Laboratory in the assessment of procedures which constitute the basis of the rehabilitation of cleft lip and palate, i.e., Plastic Surgery, Orthodontics and Maxillofacial Surgery and Speech Pathology. PMID:24037080

  3. Siamese twins with craniofacial duplication and bilateral cleft lip/palate in a ceramic representation of the Chimú culture (Peru): a comparative analysis with a current case.

    PubMed

    Pachajoa, Harry; Hernandez-Amaris, Maria F; Porras-Hurtado, Gloria Liliana; Rodriguez, Carlos A

    2014-06-01

    Craniofacial duplication or diprosopus is a very rare malformation that is present in approximately 0.4% of conjoined twins. Here is presented a case of craniofacial duplication in association with bilateral cleft lip/palate in both heads found in a ceramic representation from the early Chimú culture from Peru. A comparative analysis is made with a current case of a 28-week-old fetus with similar characteristics. After reviewing the medical literature on conjoined twins, very few reports of facial cleft in both twins were found, with no reports at all of bilateral cleft lip/palate. This ceramic crock is considered one of the first representations suggestive of craniofacial duplication, and probably the first reporting it in association with facial cleft.

  4. Evaluation of temporomandibular fossa and mandibular condyle in adolescent patients affected by bilateral cleft lip and palate using cone beam computed tomography.

    PubMed

    Uçar, Faruk Izzet; Buyuk, Suleyman Kutalmış; Şekerci, Ahmet Ercan; Celikoglu, Mevlut

    2016-11-01

    The purposes of this study were to investigate the position of the mandibular condyle and temporomandibular fossa between the adolescent patients affected by bilateral cleft lip and palate (BCLP) and well-matched controls without any cleft by using cone-beam computed tomography (CBCT). The study sample consisted of 17 patients (7 females and 10 males; mean age, 14.27 ± 2.83 years) affected by BCLP and 17 patients (6 females and 11 males; mean age, 14.27 ± 2.12 years) as age-and sex-matched control group without any cleft. Using cone-beam computed tomography segmented three-dimensional temporomandibular fossa and mandibular condyle images were reconstructed and angular, linear, and volumetric measurements of the patients in both sides of the groups were examined using Paired and Student's t-tests. Comparison of the sides showed that both sides were found to be similar in BCLP and control groups, except the condylar angulation of the right side was found to be higher compared to that of the left side in both groups (p < 0.05). Comparison of the groups showed that the patients affected by BCLP and non-cleft patients had similar values for all parameters, except for the condylar angulation in the right side (BCLP group had less angulation compared to controls; p < 0.05). The condylar volume was found to be slightly less in the BCLP group in both sides compared to the controls (p > 0.05). The positions of the mandibular condyle and temporomandibular fossa were found to be similar in patients affected by BCLP and control group of without any cleft. SCANNING 38:720-726, 2016. © 2016 Wiley Periodicals, Inc.

  5. Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with Fryns' syndrome.

    PubMed

    Benacerraf, B R; Sadow, P M; Barnewolt, C E; Estroff, J A; Benson, C

    2006-05-01

    We present a case of Fryns' syndrome diagnosed prenatally using three-dimensional (3D) ultrasonography and magnetic resonance imaging (MRI). A cleft of the soft palate was diagnosed using 3D thick-slice ultrasonography. Other sonographic findings included a right diaphragmatic hernia, enlarged echogenic kidneys and severe polyhydramnios. The detection of the cleft palate was instrumental in suggesting the diagnosis of Fryns' syndrome in a fetus which also had a diaphragmatic hernia. These findings were also demonstrated with prenatal MRI. The technique of imaging the soft palate en face using a thick-slice technique is presented.

  6. Globalization of Craniofacial Plastic Surgery: Foreign Mission Programs for Cleft Lip and Palate

    PubMed Central

    Laub, Donald R.

    2015-01-01

    Abstract International Humanitarian Interchanges are a bona fide component of surgery and medicine. Additionally, these programs also provide substantial benefit both to the doers and the recipients. The foreign mission program is potentially a weapon of foreign policy which is underutilized and underestimated. Physician job dissatisfaction is increasing. However, the happiness and satisfaction of the participants in the short-term multidisciplinary trips, repeated, well-organized and respectful, with rather complete integration of the surgical system of the sister countries (“Plan B”), approaches 100%. The theory of the International Humanitarian Interchanges is based on substance, on medical theory. These trips are particularly successful in interchanges with medium-resourced countries. Furthermore, the academic visiting professor (“Plan A”: hi-resource place to hi-resource place), the One Man Can Save the World model (“Plan C”: to the low-resource place), and the intriguing Horton Peace Plan have possibilities for long-term benefit to the doer, recipient, the field of surgery, and the body of knowledge. In all of these, our country and the family of nations advance. The theoretical basis is not always religious nor the grand strategy plan; both have either proselytizing or political dominance as primary motives, and are mentioned as historically helpful. PMID:26080114

  7. Globalization of Craniofacial Plastic Surgery: Foreign Mission Programs for Cleft Lip and Palate.

    PubMed

    Laub, Donald R

    2015-06-01

    International Humanitarian Interchanges are a bona fide component of surgery and medicine. Additionally, these programs also provide substantial benefit both to the doers and the recipients.The foreign mission program is potentially a weapon of foreign policy which is underutilized and underestimated.Physician job dissatisfaction is increasing. However, the happiness and satisfaction of the participants in the short-term multidisciplinary trips, repeated, well-organized and respectful, with rather complete integration of the surgical system of the sister countries ("Plan B"), approaches 100%.The theory of the International Humanitarian Interchanges is based on substance, on medical theory. These trips are particularly successful in interchanges with medium-resourced countries.Furthermore, the academic visiting professor ("Plan A": hi-resource place to hi-resource place), the One Man Can Save the World model ("Plan C": to the low-resource place), and the intriguing Horton Peace Plan have possibilities for long-term benefit to the doer, recipient, the field of surgery, and the body of knowledge. In all of these, our country and the family of nations advance.The theoretical basis is not always religious nor the grand strategy plan; both have either proselytizing or political dominance as primary motives, and are mentioned as historically helpful.

  8. Objective Assessment of Hypernasality in Patients with Cleft Lip and Palate with the NasalView System: A Clinical Validation Study.

    PubMed

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

    2012-01-01

    Introduction. The objective of this investigation was to evaluate the reliability and validity of the NasalView system as a screening tool for hypernasality within the scope of a routine diagnostic procedure in cleft lip and palate patients. Material and Methods. In a collective of 95 patients with cleft and lip palate ranging from 4 to 25 years of age, hypernasality was exploited perceptually, patients were classified in four degrees, and nasalance was measured objectively with the NasalView system. Speech stimuli existed in one nasal and one nonnasal sentence; nasalance ratio and distance were calculated. Results. The test-retest error was within a range of 2%. Sensitivity ranged from 83.3% to 91.1% for the nonnasal sentence, from 70% to 78.4% for nasalance ratio and from 68.1% to 81.1% for nasalance distance. Specifity ranged from 87% to 93.1% for the nonnasal sentence, from 69.6% to 97.5% for nasalance ratio, and from 70.7% to 73.9% for nasalance distance. Conclusions. With a quick and gentle screening procedure, it is easily possible to identify hypernasal patients by an objective diagnostic tool of hypernasality, the NasalView system, with good reliability and validity.

  9. Cultural and religious components in Nigerian parents' perceptions of the aetiology of cleft lip and palate: implications for treatment and rehabilitation.

    PubMed

    Olasoji, H O; Ugboko, V I; Arotiba, G T

    2007-06-01

    The present study was conducted to find out the perceptions of mothers from two Nigerian ethnic groups who had children with cleft lip and palate (CLP) about the aetiology of the defect. Mothers of 16 children with CLP from the Yoruba ethnic group who attended the maxillofacial clinic of the Obafemi Awolowo University teaching hospital in southern Nigeria and 20 children with CLP from the Hausa/Fulani ethnic group who attended the maxillofacial clinic of the University of Maiduguri teaching hospital in northeastern Nigeria were interviewed over an 8-month period. We used standardised interviews including questions with ethnographic components to allow us to collect information about traditional beliefs about clefts. Interviews were recorded on tape for later analysis. Thirteen of the 16 parents from the Yoruba group attributed the aetiology of CLP to supernatural forces (evil spirits and ancestral spirits), while 16 of the 20 Hausa/Fulani parents attributed it to the "will of God". Twelve of 16 Yoruba parents had consulted traditional healers for treatment before coming to the hospital. Various plants and animal products were used to treat clefts and 10 of the Yoruba parents were referred to the hospital for further treatment by the traditional healers. Cultural and religious factors seem to have an important role in the explanations, labels and treatment that followed the birth of a child with CLP in this environment. There is a need for greater collaboration and sharing of information between modern medical practitioners and traditional healers.

  10. International multiphase mixed methods study protocol to develop a cross-cultural patient-reported outcome instrument for children and young adults with cleft lip and/or palate (CLEFT-Q)

    PubMed Central

    Wong Riff, Karen W Y; Tsangaris, Elena; Goodacre, Tim; Forrest, Christopher R; Pusic, Andrea L; Cano, Stefan J; Klassen, Anne F

    2017-01-01

    Introduction Patient-reported outcome (PRO) instruments should be developed according to rigorous guidelines in order to provide clinically meaningful, scientifically sound measurement. Understanding the methodology behind instrument development informs the selection of the most appropriate tool. This mixed methods protocol describes the development of an internationally applicable PRO instrument, the CLEFT-Q, for evaluating outcomes of treatment for cleft lip and/or palate (CL/P). Methods and analysis The study includes three main phases that occur iteratively and interactively. In phase I, we determine what concepts are important to patients regarding their outcome. A conceptual framework for the CLEFT-Q is formed through a systematic review and an extensive international qualitative study. The systematic review ascertains what concepts have previously been measured in patients with CL/P. The qualitative study employs interpretive description and involves in-depth interviews with patients in high-income and lower-middle income countries. Preliminary items are generated from the qualitative data. Preliminary scales are then created for each theme in the framework. Cognitive debriefing interviews and expert clinician input are used to refine the scales in an iterative process. In phase II, the preliminary scales are administered to a large international group of patients with CL/P. The modern psychometric method of Rasch Measurement Theory analysis is employed to define the measurement characteristics. The preliminary scales are shortened based on these results. In phase III, further tests assess reliability, validity and responsiveness of the instrument. Ethics and dissemination The study is approved by Research Ethics Boards for each participating site. Findings from this study will be published in open access peer-reviewed journals and presented at national and international conferences. Integrated knowledge translation is employed to engage stakeholders from

  11. Cleft Lip and Palate

    MedlinePlus

    ... THIS TOPIC What's Hearing Loss? Going to a Speech Therapist What Happens in the Operating Room? Going to the Hospital ... Us Partners Editorial Policy Privacy Policy & Terms of Use Visit the Nemours ...

  12. Cleft Lip and Palate

    MedlinePlus

    ... birth defects. Moms who drink four or more alcoholic drinks in a row during the first weeks ... 1 • 2 • 3 For Teens For Kids For Parents MORE ON THIS TOPIC Hearing Impairment Speech Problems ...

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    2014-06-01

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

  15. Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.

    PubMed

    Yoshida, Kazue; Hayashi, Ryota; Fujita, Hideki; Kubota, Masaya; Kondo, Mai; Shimomura, Yutaka; Niizeki, Hironori

    2015-07-01

    Cleft lip/palate-ectodermal dysplasia syndrome is a rare, autosomal recessive disorder caused by homozygous loss-of-function mutations of the poliovirus receptor-like 1 (PVRL1) gene encoding nectin-1. Nectin-1 is a cell-cell adhesion molecule that is important for the initial step in the formation of adherens junctions and tight junctions; it is expressed in keratinocytes, neurons, and the developing face and palate. Clinical manifestations comprise a unique facial appearance with cleft lip/palate, ectodermal dysplasia, cutaneous syndactyly of the fingers and/or toes, and in some cases, mental retardation. We present the first report, to our knowledge, of an Asian individual with cleft lip/palate-ectodermal dysplasia syndrome with a novel PVRL1 mutation. A 7-year-old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and hypodontia, the unique facial appearance with cleft lip/palate, cutaneous syndactyly of the fingers and mild mental retardation. Scanning electron microscopic examination of the hair demonstrated pili torti and pili trianguli et canaliculi. Mutation analysis of exon 2 of PVRL1 revealed a novel homozygous nonsense mutation, c.400C>T (p.Arg134*). His parents were heterozygous for the mutant alleles. All four PVRL1 mutations identified in cleft lip/palate-ectodermal dysplasia syndrome to date, including this study, resulted in truncated proteins that lack the transmembrane domain and intracellular domain of nectin-1, which is necessary to initiate the cell-cell adhesion process.

  16. 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.

    PubMed

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R; Feingold, Eleanor; Wehby, George; Laurie, Cecelia A; Jain, Deepti; Laurie, Cathy C; Doheny, Kimberly F; McHenry, Toby; Resick, Judith; Sanchez, Carla; Jacobs, Jennifer; Emanuele, Beth; Vieira, Alexandre R; Neiswanger, Katherine; Lidral, Andrew C; Valencia-Ramirez, Luz Consuelo; Lopez-Palacio, Ana Maria; Valencia, Dora Rivera; Arcos-Burgos, Mauricio; Czeizel, Andrew E; Field, L Leigh; Padilla, Carmencita D; Cutiongco-de la Paz, Eva Maria C; Deleyiannis, Frederic; Christensen, Kaare; Munger, Ronald G; Lie, Rolv T; Wilcox, Allen; Romitti, Paul A; Castilla, Eduardo E; Mereb, Juan C; Poletta, Fernando A; Orioli, Iêda M; Carvalho, Flavia M; Hecht, Jacqueline T; Blanton, Susan H; Buxó, Carmen J; Butali, Azeez; Mossey, Peter A; Adeyemo, Wasiu L; James, Olutayo; Braimah, Ramat O; Aregbesola, Babatunde S; Eshete, Mekonen A; Abate, Fikre; Koruyucu, Mine; Seymen, Figen; Ma, Lian; de Salamanca, Javier Enríquez; Weinberg, Seth M; Moreno, Lina; Murray, Jeffrey C; Marazita, Mary L

    2016-07-01

    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 factors. Previous genome-wide association studies (GWASs) have identified at least 15 risk loci for CL/P. As these loci do not account for all of the genetic variance of CL/P, we hypothesized the existence of additional risk loci. We conducted a multiethnic GWAS in 6480 participants (823 unrelated cases, 1700 unrelated controls and 1319 case-parent trios) with European, Asian, African and Central and South American ancestry. Our GWAS revealed novel associations on 2p24 near FAM49A, a gene of unknown function (P = 4.22 × 10(-8)), and 19q13 near RHPN2, a gene involved in organizing the actin cytoskeleton (P = 4.17 × 10(-8)). Other regions reaching genome-wide significance were 1p36 (PAX7), 1p22 (ARHGAP29), 1q32 (IRF6), 8q24 and 17p13 (NTN1), all reported in previous GWASs. Stratification by ancestry group revealed a novel association with a region on 17q23 (P = 2.92 × 10(-8)) among individuals with European ancestry. This region included several promising candidates including TANC2, an oncogene required for development, and DCAF7, a scaffolding protein required for craniofacial development. In the Central and South American ancestry group, significant associations with loci previously identified in Asian or European ancestry groups reflected their admixed ancestry. In summary, we have identified novel CL/P risk loci and suggest new genes involved in craniofacial development, confirming the highly heterogeneous etiology of OFCs.

  17. Genome Scan, Fine-Mapping, and Candidate Gene Analysis of Non-Syndromic Cleft Lip with or without Cleft Palate Reveals Phenotype-Specific Differences in Linkage and Association Results

    PubMed Central

    Marazita, Mary L.; Lidral, Andrew C.; Murray, Jeffrey C.; Field, L.Leigh; Maher, Brion S.; Goldstein McHenry, Toby; Cooper, Margaret E.; Govil, Manika; Daack-Hirsch, Sandra; Riley, Bridget; Jugessur, Astanand; Felix, Temis; Morene, Lina; Mansilla, M.Adela; Vieira, Alexandre R.; Doheny, Kim; Pugh, Elizabeth; Valencia-Ramirez, Consuelo; Arcos-Burgos, Mauricio

    2009-01-01

    Objectives Non-syndromic orofacial clefts, i.e. cleft lip (CL) and cleft palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions and genes for CL with or without CP (CL/P). Methods We performed linkage analyses of a 10 cM genome scan in 820 multiplex CL/P families (6,565 individuals). Significant linkage results were followed by association analyses of 1,476 SNPs in candidate genes and regions, utilizing a weighted false discovery rate (wFDR) approach to control for multiple testing and incorporate the genome scan results. Results Significant (multipoint HLOD ≥3.2) or genome-wide-significant (HLOD ≥4.02) linkage results were found for regions 1q32, 2p13, 3q27-28, 9q21, 12p11, 14q21-24 and 16q24. SNPs in IRF6 (1q32) and in or near FOXE1 (9q21) reached formal genome-wide wFDR-adjusted significance. Further, results were phenotype dependent in that the IRF6 region results were most significant for families in which affected individuals have CL alone, and the FOXE1 region results were most significant in families in which some or all of the affected individuals have CL with CP. Conclusions These results highlight the importance of careful phenotypic delineation in large samples of families for genetic analyses of complex, heterogeneous traits such as CL/P. PMID:19521098

  18. Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci

    PubMed Central

    Leslie, Elizabeth J.; Taub, Margaret A.; Liu, Huan; Steinberg, Karyn Meltz; Koboldt, Daniel C.; Zhang, Qunyuan; Carlson, Jenna C.; Hetmanski, Jacqueline B.; Wang, Hang; Larson, David E.; Fulton, Robert S.; Kousa, Youssef A.; Fakhouri, Walid D.; Naji, Ali; Ruczinski, Ingo; Begum, Ferdouse; Parker, Margaret M.; Busch, Tamara; Standley, Jennifer; Rigdon, Jennifer; Hecht, Jacqueline T.; Scott, Alan F.; Wehby, George L.; Christensen, Kaare; Czeizel, Andrew E.; Deleyiannis, Frederic W.-B.; Schutte, Brian C.; Wilson, Richard K.; Cornell, Robert A.; Lidral, Andrew C.; Weinstock, George M.; Beaty, Terri H.; Marazita, Mary L.; Murray, Jeffrey C.

    2015-01-01

    Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and European trios, and carried out a series of statistical and functional analyses. Within a cluster of strongly associated common variants near NOG, we found that one, rs227727, disrupts enhancer activity. We furthermore identified significant clusters of non-coding rare variants near NTN1 and NOG and found several rare coding variants likely to affect protein function, including four nonsense variants in ARHGAP29. We confirmed 48 de novo mutations and, based on best biological evidence available, chose two of these for functional assays. One mutation in PAX7 disrupted the DNA binding of the encoded transcription factor in an in vitro assay. The second, a non-coding mutation, disrupted the activity of a neural crest enhancer downstream of FGFR2 both in vitro and in vivo. This targeted sequencing study provides strong functional evidence implicating several specific variants as primary contributory risk alleles for nonsyndromic clefting in humans. PMID:25704602

  19. [Cleft lip and palate in the Chilean population: association with BamH1 polymorphism of the transforming growth factor alpha (TGFA) gene].

    PubMed

    Jara, L; Blanco, R; Chiffelle, I; Palomino, H; Curtis, D

    1993-04-01

    In recent studies we have demonstrated that the model that better explains the genetic etiology of non syndromic cleft lip/palate (CL/P) in the Chilean population is one that postulates the existence of a major dominant autosomic locus with low penetrance, without discarding the possible influence of polygenes. Similar conclusions have been communicated by others authors in different populations. Thus, investigations have been initiated to seek possible associations between candidate genes and restriction length polymorphisms (RFLP's), specifically between Transforming Growth Factor Alpha (TGFA) gene RFLP's and CL/P, in caucasian populations. Results thus far obtained have been inconclusive. Therefore, the aim of this work was to study this association in the Chilean population, that is ethnically different. The gene and phenotype frequencies of the TGFA gene BamH1 polymorphism in CL/P probands (n = 21) and controls (n = 16) were determined. No significant differences were detected in the frequencies of the A1 and A2 alleles of the TGFA gene between probands and controls. These results do not support an association between the cleft palate phenotype and TGFA RFLP.

  20. Patterns of some extracellular matrix gene expression are similar in cells from cleft lip-palate patients and in human palatal fibroblasts exposed to diazepam in culture.

    PubMed

    Marinucci, Lorella; Balloni, Stefania; Bodo, Maria; Carinci, Francesco; Pezzetti, Furio; Stabellini, Giordano; Conte, Carmela; Carmela, Conte; Lumare, Eleonora

    2009-03-04

    Prenatal exposure to diazepam, a prototype sedative drug that belongs to Benzodiazepines, can lead to orofacial clefting in human newborns. By using real-time PCR, in the present study we investigated whether diazepam elicits gene expression alterations in extracellular matrix (ECM) components, growth factors and gamma-aminobutyric acid receptor (GABRB3), implicated in the coordinate regulation of palate development. Palate fibroblasts were treated with diazepam (Dz-N fibroblasts) and compared to cleft lip-palate (CLP) fibroblasts obtained from patients with no known exposure to diazepam or other teratogens. Untreated fibroblasts from non-CLP patients were used as control. The results showed significant convergences in gene expression pattern of collagens, fibromodulin, vitronectin, tenascin C, integrins and metalloprotease MMP13 between Dz-N and CLP fibroblasts. Among the growth factors, constitutive Fibroblast Growth Factor 2 (FGF2) was greatly enhanced in Dz-N and CLP fibroblasts and associated with a higher reduction of FGF receptor. Transforming Growth Factor beta 3 (TGFbeta(3)) resulted up-regulated in CLP fibroblasts and decreased in Dz-N fibroblasts. We found phenotypic differences exhibited by Dz-N and CLP fibroblasts in GABRB3 gene regulation, so further studies are necessary to determine whether GABAergic system could be involved in the development of diazepam mediated CLP phenotype. Taken together the results elucidate the molecular mechanisms underlying possible toxicology effects induced by diazepam. Counselling of women on the safety of diazepam exposure is clinically important, also for the forensic consequences.

  1. Cleft Palate Foundation

    MedlinePlus

    ... Sequence, Crouzon Syndrome, and Treacher Collins Syndrome. Cleftline™ Bears Our Cleftline™ bears bring comfort to children with cleft lip and ... anxiety they experience from having facial differences. Each bear is custom-made with stitches across its upper ...

  2. International confederation for cleft lip and palate and related craniofacial anomalies task force report: palatoplasty in the speaking individual with unrepaired cleft palate.

    PubMed

    Sommerlad, Brian C

    2014-11-01

    Introduction : The benefits or otherwise of late palate repair in older children or adults are uncertain. The outcomes, particularly without appropriate speech therapy, are often disappointing. The issue is of special importance in the poorer countries where these patients are most commonly seen and where limited capacity and facilities may have to be rationed. Method : A task force was set up to report back to the International Congress in Orlando in May 2013. The chairman and some members were nominated by the organizers and further members were added during the discussion process. Some of the members had considerable experience of late palate repair. The task force compiled a report after 9 months of e-mail correspondence. The report includes reports of some previously unpublished studies. A summary of the report was presented at Cleft 2013 in Orlando. Conclusions : There was a general consensus that late palate repair is of benefit for many patients and that, even if normal speech is not attained, outcomes are positive. Outcomes depend on the age of the patient (the younger the better), on the skill of the surgeon and, ideally, on the availability of appropriate speech therapy. A protocol for a prospective international multi-center study is proposed.

  3. Nasalance measures in German-speaking cleft patients.

    PubMed

    Swennen, Gwen R J; Grimaldi, Hannes; Upheber, Juliane; Kramer, Franz-Josef; Dempf, Rupert

    2004-01-01

    The purpose of this study was to evaluate nasalance measures in German-speaking patients with different types of repaired cleft lip and palate and to find out if significant nasalance gender differences exist in the different cleft groups. A total of 125 German-speaking cleft patients (74 male and 51 female) were included in this study: 18 patients with isolated unilateral cleft lip (UCL; mean age: 13.00 +/- 2.03 years), 66 patients with complete unilateral cleft lip and palate (UCLP; mean age: 14.80 +/- 3.45 years), 25 patients with isolated cleft palate (CP; mean age: 14.60 +/- 3.48 years), and 16 patients with complete bilateral cleft lip and palate (BCLP; mean age: 14.30 +/- 3.61 years). Nasalance data were collected and computed using the NasalView hardware/software system (Fa. Tiger Electronics, Seattle, WA). Speech stimuli according to a modified Heidelberg Rhinophonia Assessment Form (sustained vowels "a," "e," "i," "o," and "u"; oral and nasal sentences; and three oral-nasal reading passages) were used to obtain nasalance scores. Nasalance distance and ratio were also calculated for the oral and nasal sentences and for one of the oral-nasal reading passages. Unpaired t tests showed no significant gender nasalance differences in each cleft group. Analysis of variance showed no significant differences in mean nasalance distance and ratio. For the nasal sentence, a significant difference (P = 0.032) in mean nasalance scores was found between the UCL and UCLP groups.

  4. Haplotype-based gene-gene interaction of bone morphogenetic protein 4 and interferon regulatory factor 6 in the etiology of non-syndromic cleft lip with or without cleft palate in a Chilean population.

    PubMed

    Blanco, Rafael; Colombo, Alicia; Pardo, Rosa; Suazo, José

    2017-04-01

    Non-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common craniofacial birth defect in humans, the etiology of which can be dependent on the interactions of multiple genes. We previously reported haplotype associations for polymorphic variants of interferon regulatory factor 6 (IRF6), msh homeobox 1 (MSX1), bone morphogenetic protein 4 (BMP4), and transforming growth factor beta 3 (TGFB3) in Chile. Here, we analyzed the haplotype-based gene-gene interaction for markers of these genes and NSCL/P risk in the Chilean population. We genotyped 15 single nucleoptide polymorphisms (SNPs) in 152 Chilean patients and 164 controls. Linkage disequilibrium (LD) blocks were determined using the Haploview software, and phase reconstruction was performed by the Phase program. Haplotype-based interactions were evaluated using the multifactor dimensionality reduction (MDR) method. We detected two LD blocks composed of two SNPs from BMP4 (Block 1) and three SNPs from IRF6 (Block 2). Although MDR showed no statistical significance for the global interaction model involving these blocks, we found four combinations conferring a statistically significantly increased NSCL/P risk (Block 1-Block 2): T-T/T-G C-G-T/G-A-T; T-T/T-G C-G-C/C-G-C; T-T/T-G G-A-T/G-A-T; and T-T/C-G G-A-T/G-A-T. These findings may reflect the presence of a genomic region containing potential causal variants interacting in the etiology of NSCL/P and may contribute to disentangling the complex etiology of this birth defect.

  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

    SciTech Connect

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

    2011-07-15

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

  6. Early, computer-Aided Design/Computer-Aided Modeling Planned, Le Fort I Advancement With Internal Distractors to Treat Severe Maxillary Hypoplasia in Cleft Lip and Palate.

    PubMed

    Chang, Catherine S; Swanson, Jordan; Yu, Jason; Taylor, Jesse A

    2017-04-11

    Traditionally, maxillary hypoplasia in the setting of cleft lip and palate is treated via orthognathic surgery at skeletal maturity, which condemns these patients to abnormal facial proportions during adolescence. The authors sought to determine the safety profile of computer-aided design/computer-aided modeling (CAD/CAM) planned, Le Fort I distraction osteogenesis with internal distractors in select patients presenting at a young age with severe maxillary retrusion. The authors retrospectively reviewed our "early" Le Fort I distraction osteogenesis experience-patients performed for severe maxillary retrusion (≥12 mm underjet), after canine eruption but prior to skeletal maturity-at a single institution. Patient demographics, cleft characteristics, CAD/CAM operative plans, surgical complications, postoperative imaging, and outcomes were analyzed. Four patients were reviewed, with a median age of 12.8 years at surgery (range 8.6-16.1 years). Overall mean advancement was 17.95 + 2.9 mm (range 13.7-19.9 mm) with mean SNA improved 18.4° to 87.4 ± 5.7°. Similarly, ANB improved 17.7° to a postoperative mean of 2.4 ± 3.1°. Mean follow-up was 100.7 weeks, with 3 of 4 patients in a Class I occlusion with moderate-term follow-up; 1 of 4 will need an additional maxillary advancement due to pseudo-relapse. In conclusion, Le Fort I distraction osteogenesis with internal distractors is a safe procedure to treat severe maxillary hypoplasia after canine eruption but before skeletal maturity. Short-term follow-up demonstrates safety of the procedure and relative stability of the advancement. Pseudo-relapse is a risk of the procedure that must be discussed at length with patients and families.

  7. A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1

    PubMed Central

    Lidral, Andrew C.; Liu, Huan; Bullard, Steven A.; Bonde, Greg; Machida, Junichiro; Visel, Axel; Uribe, Lina M. Moreno; Li, Xiao; Amendt, Brad; Cornell, Robert A.

    2015-01-01

    Three common diseases, isolated cleft lip and cleft palate (CLP), hypothyroidism and thyroid cancer all map to the FOXE1 locus, but causative variants have yet to be identified. In patients with CLP, the frequency of coding mutations in FOXE1 fails to account for the risk attributable to this locus, suggesting that the common risk alleles reside in nearby regulatory elements. Using a combination of zebrafish and mouse transgenesis, we screened 15 conserved non-coding sequences for enhancer activity, identifying three that regulate expression in a tissue specific pattern consistent with endogenous foxe1 expression. These three, located −82.4, −67.7 and +22.6 kb from the FOXE1 start codon, are all active in the oral epithelium or branchial arches. The −67.7 and +22.6 kb elements are also active in the developing heart, and the −67.7 kb element uniquely directs expression in the developing thyroid. Within the −67.7 kb element is the SNP rs7850258 that is associated with all three diseases. Quantitative reporter assays in oral epithelial and thyroid cell lines show that the rs7850258 allele (G) associated with CLP and hypothyroidism has significantly greater enhancer activity than the allele associated with thyroid cancer (A). Moreover, consistent with predicted transcription factor binding differences, the −67.7 kb element containing rs7850258 allele G is significantly more responsive to both MYC and ARNT than allele A. By demonstrating that this common non-coding variant alters FOXE1 expression, we have identified at least in part the functional basis for the genetic risk of these seemingly disparate disorders. PMID:25652407

  8. Feeling Normal? Long-Term Follow-up of Patients with a Cleft Lip-Palate after Rhinoplasty with the Derriford Appearance Scale (DAS-59).

    PubMed

    Albers, Andreas E; Reichelt, Andreas C; Nolst-Trenité, Gilbert J; Menger, Dirk Jan

    2016-04-01

    The stigma of nasal deformity due to a congenital cleft lip-palate has an undeniable influence on the affected patient's life. It is therefore of interest to investigate if efforts to reduce esthetic and functional impairments by rhinoplasty (single or multiple) can result in an increased satisfaction with appearance and a self-perception similar to the noncleft population. Retrospective scoring before and after rhinoplasty using the validated Derriford Appearance Scale (DAS-59) and subsequent statistical evaluation and comparison to datasets available in the literature for further classification was used. Of the 61 patients who underwent at least one rhinoplasty, 26 responded to all questions. The mean age of responders was approximately 30 years of age and the male:female ratio was 1:1.2. The scale showed a significant overall improvement after surgery. The full scale and all subscale scores of the DAS-59 were significantly reduced after surgery demonstrating an improvement in the respective categories. Most importantly, if postoperative results were compared with a population concerned and unconcerned about appearance, no difference "facial self-consciousness" of appearance was apparent. Also postoperative subscores for "general self-consciousness" (GSC) and "social self-consciousness" of appearance (SSC) showed no difference from those obtained from the population concerned about appearance. The postoperative subscore for "sexual and bodily self-consciousness" of appearance (SBSC) indicated improvement beyond the level found in the concerned control population. Due to only a low improvement in the difference compared with the subscore representing a "negative self-concept," a statistically significant difference to the concerned population remained, possibly indicating that therapy beyond surgery is needed for improvement. After rhinoplasty, the investigated group of cleft lip-palate patients with nasal deformities showed an improvement in their self

  9. Nasoalveolar Molding in Cleft Care—Experience in 40 Patients from a Single Centre in Germany

    PubMed Central

    Rau, Andrea; Ritschl, Lucas M.; Mücke, Thomas; Wolff, Klaus-Dietrich; Loeffelbein, Denys J.

    2015-01-01

    Nasoalveolar molding (NAM) has gained wide acceptance and evidence in cleft therapy. However, standardized treatment protocols and experiences recorded from European centres are lacking. The results of 40 infants with cleft lip and palate treated with presurgical NAM according to the Grayson technique were analyzed. Standardized parameters of cleft width and nasal symmetry were measured in pre- and posttreatment plaster casts and in digitalized 3-dimensional STL models. Statistical analyses were performed by using Student´s t-test in a per-protocol manner. 27 out of 40 infants completed NAM and were analyzed. In 13 patients NAM was either temporarily interrupted or terminated prematurely due to skin irritations or lack of parental support. These cases were excluded from statistical analysis, resulting in a drop-out rate of 32.5%. Intersegmental alveolar distance (ISAD), intersegmental lip distance (ISLD), nostril height (NH), nostril width (NW) and columella deviation angle (CDA) were significantly changed in unilateral cleft lip and palate (UCLP) (n = 8). In unilateral cleft lip (UCL) (n = 9), only ISLD, NH and CDA were significantly changed. ISAD of the right and left side, ISLD of the right and left side, premaxilla deviation angle, nostril height and columella length were changed significantly in bilateral cleft lip and palate (BCLP) cases (n = 10). NAM is a suitable presurgical treatment modality. A positive effect has been seen in UCLP and BCLP infants, as compared with their birth status. PMID:25734535

  10. A Preliminary Three-Dimensional Analysis of Nasal Aesthetics Following Le Fort I Advancement in Patients With Cleft Lip and Palate.

    PubMed

    Davidson, Edward; Kumar, Anand R

    2015-10-01

    Nasal aesthetic changes after cleft orthognathic surgery remain understudied. Previous scarring associated with prior cleft surgery may affect the predictability of outcomes after jaw surgery. This study evaluates changes in nasal aesthetics using three-dimensional photography after Le Fort I advancement in patients with nonsyndromic cleft-related maxillary hypoplasia. Cephalometric parameters were recorded pre- and postoperatively. Three-dimensional photogrammetric imaging analyzed changes in interalar width (IAW), internostril width (INW), nasal tip projection (NTP), collumelar length (CL), nasal labial angle (NLA), and nasal length (NL). Statistical significance between pre- and postoperative data was determined using T-tests for each parameter. Eleven patients underwent either single piece Le Fort I osteotomy and advancement, (3 bilateral, 4 unilateral cleft lip, and palate), or 2-piece advancement (2 bilateral, 2 unilateral). Average nasal soft tissue changes were IAW 1.9 mm (0.4-4.2), INW -0.2 mm (-2.8 to 1.6), NTP -1.0 mm (-4.0 to 2.0), CL -0.7 mm (-2.9 to 1.5), NLA -0.2° (-13.9 to 15.1), and NL -0.7 mm (-4.3 to 1.5), (P = 0.001, 0.6, 0.08, 0.01, 0.9, 0.2). For single-piece osteotomy alone changes were IAW 2.1 mm (0.6-4.1), INW -0.6 mm (-2.8 to 1.7), NTP -1.9 mm (-4.0 to 0.3), CL -1.2 mm (-2.9 to 0.03), NLA -1.3° (-13.9 to 15.0), and NL -1.1 mm (-4.3 to 0.7), (P = 0.007, 0.3, 0.009, 0.0002, 0.7, 0.2). For 2-piece osteotomy alone changes were IAW 1.6 mm (-0.4 to 3.3), INW 0.5 mm (0.4-1.6), NTP 0.5 mm (-1.1-2.0), CL 0.2 mm (-1.4 to 1.5), NLA 2.8° (-7.6 to 10.1), and NL -0.1 mm (-1.4 to 1.5), (P = 0.2, 0.4, 0.5, 0.6, 0.5, 0.9). Cleft-related scarring and malposition affect changes in nasal aesthetics following maxillary advancement that are different to the noncleft population. Two-piece Le Fort I increases variability of changes in nasal aesthetics compared with single-piece advancement.

  11. The effect of sevoflurane on developing A/J strain mouse embryos using a whole-embryo culture system--the incidence of cleft lip in culture embryos.

    PubMed

    Yamada, Morimasa; Yamamoto, Naoki; Ohgami, Saori; Kanazawa, Mayuko; Harada, Jun; Ohno, Norikazu; Natsume, Nagato

    2014-03-01

    A/J strain mice have a high spontaneous incidence of cleft lip (ICL) and/or palate. The primary palate-related effects of sevoflurane on developing A/J strain mouse embryos (embryos) were studied using a whole-embryo culture (WEC) system. This system could separate the direct effects of sevoflurane from those that are maternally mediated. A total of 205 10.5-d embryos were cultured for 24 h in either a control group (control gas: 95% O2 and 5% CO2) or sevoflurane-administered groups (1/4, 1/2, and 1 minimum alveolar concentration (MAC) with control gas) for 8 h. After 16 h, 11.5-d culture embryos were examined in terms of crown-rump length, number of somites, and protein content. Crown-rump length in the 1 MAC was significantly shorter than in the control group (p < 0.05). Protein content in the 1/2 MAC (p < 0.05) and 1 MAC (p < 0.001) was significantly lower than in the control group. The ICL showed no significant differences between each group. (The ICL rose with an increase in the sevoflurane concentration, but this was not significant). The positive findings in this study indicate that a WEC system is useful for studying the mechanisms of ICL (teratogenicity) associated with sevoflurane.

  12. Relational development in children with cleft lip and palate: influence of the waiting period prior to the first surgical intervention and parental psychological perceptions of the abnormality

    PubMed Central

    2012-01-01

    Background The birth of a child with a cleft lip, whether or not in association with a cleft palate, is a traumatic event for parents. This prospective, multidisciplinary and multi-centre study aims to explore the perceptions and feelings of parents in the year following the birth of their child, and to analyse parent–child relationships. Four inclusion centres have been selected, differing as to the date of the first surgical intervention, between birth and six months. The aim is to compare results, also distinguishing the subgroups of parents who were given the diagnosis in utero and those who were not. Methods/Design The main hypothesis is that the longer the time-lapse before the first surgical intervention, the more likely are the psychological perceptions of the parents to affect the harmonious development of their child. Parents and children are seen twice, when the child is 4 months (T0) and when the child is one year old (T1). At these two times, the psychological state of the child and his/her relational abilities are assessed by a specially trained professional, and self-administered questionnaires measuring factors liable to affect child–parent relationships are issued to the parents. The Alarme Détresse BéBé score for the child and the Parenting Stress Index score for the parents, measured when the child reaches one year, will be used as the main criteria to compare children with early surgery to children with late surgery, and those where the diagnosis was obtained prior to birth with those receiving it at birth. Discussion The mental and psychological dimensions relating to the abnormality and its correction will be analysed for the parents (the importance of prenatal diagnosis, relational development with the child, self-image, quality of life) and also, for the first time, for the child (distress, withdrawal). In an ethical perspective, the different time lapses until surgery in the different protocols and their effects will be analysed, so

  13. Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

    PubMed Central

    Ludwig, Kerstin U.; Ahmed, Syeda Tasnim; Böhmer, Anne C.; Sangani, Nasim Bahram; Varghese, Sheryil; Klamt, Johanna; Schuenke, Hannah; Gültepe, Pinar; Hofmann, Andrea; Rubini, Michele; Aldhorae, Khalid Ahmed; Steegers-Theunissen, Regine P.; Rojas-Martinez, Augusto; Reiter, Rudolf; Borck, Guntram; Knapp, Michael; Nakatomi, Mitsushiro; Graf, Daniel; Mangold, Elisabeth; Peters, Heiko

    2016-01-01

    Nonsyndromic orofacial clefts are common birth defects with multifactorial etiology. The most common type is cleft lip, which occurs with or without cleft palate (nsCLP and nsCLO, respectively). Although genetic components play an important role in nsCLP, the genetic factors that predispose to palate involvement are largely unknown. In this study, we carried out a meta-analysis on genetic and clinical data from three large cohorts and identified strong association between a region on chromosome 15q13 and nsCLP (P = 8.13×10−14 for rs1258763; relative risk (RR): 1.46, 95% confidence interval (CI): 1.32–1.61)) but not nsCLO (P = 0.27; RR: 1.09 (0.94–1.27)). The 5 kb region of strongest association maps downstream of Gremlin-1 (GREM1), which encodes a secreted antagonist of the BMP4 pathway. We show during mouse embryogenesis, Grem1 is expressed in the developing lip and soft palate but not in the hard palate. This is consistent with genotype-phenotype correlations between rs1258763 and a specific nsCLP subphenotype, since a more than two-fold increase in risk was observed in patients displaying clefts of both the lip and soft palate but who had an intact hard palate (RR: 3.76, CI: 1.47–9.61, Pdiff<0.05). While we did not find lip or palate defects in Grem1-deficient mice, wild type embryonic palatal shelves developed divergent shapes when cultured in the presence of ectopic Grem1 protein (P = 0.0014). The present study identified a non-coding region at 15q13 as the second, genome-wide significant locus specific for nsCLP, after 13q31. Moreover, our data suggest that the closely located GREM1 gene contributes to a rare clinical nsCLP entity. This entity specifically involves abnormalities of the lip and soft palate, which develop at different time-points and in separate anatomical regions. PMID:26968009

  14. Lip asymmetry and smile aesthetics.

    PubMed

    Batwa, Waeil; McDonald, Fraser; Cash, Alex

    2013-11-01

    Objective : To determine if lip asymmetry can affect lip aesthetics. Setting and Participants : A group of dentists (n = 40) and cleft patients (n = 40) were recruited from the dental hospital and cleft service. Interventions : Still photographic digital images of lips and teeth were manipulated to produce a computerized gradient of smile appearance with different degrees of upper-lip vertical asymmetry. These five photographs (with 0 mm representing "symmetry," and 1, 2, 2.5, and 3 mm, asymmetries) were assessed by participants using a 5-point Likert scale. Statistics : Descriptive statistics in addition to chi-square test were used to analyze the data. In order to satisfy the requirement of the chi-square test, the five smile ratings were reduced to three. Results : Lip asymmetry did affect relative smile aesthetics, as determined by dentists and cleft patients. Both the dentists and cleft patients rated the 0-mm photograph more attractive than the 2.5-mm and 3-mm smiles (P < .05). The 0-, 1-, and 2-mm smiles were indistinguishable for both dentists and cleft patients. Conclusion : Lip asymmetry affects smile aesthetics. However, cleft patients and dentists were tolerant of minor asymmetries. This suggests that small degrees of lip asymmetry do not affect relative smile aesthetics as much as large degrees of lip asymmetry (2.5 mm or more).

  15. Unusual facial cleft in Fryns syndrome: defect of stomodeum?

    PubMed

    Girisha, K M; Bhat, P; Adiga, P K; Pai, A H; Rai, L

    2010-01-01

    Unusual facial cleft in Fryns syndrome: defect of stomodeum?: We report on a fetus with Fryns syndrome. The facial cleft was unusual. There was bilateral cleft lip with cleft palate. The intermaxillary segment was connected through the base of a mound in the midline to the lower lip. We believe this is an atypical facial cleft in Fryns syndrome and likely represents a defective stomodeum.

  16. Coping strategies and psychological distress among mothers of patients with nonsyndromic cleft lip and palate and the family impact of this disorder.

    PubMed

    Hasanzadeh, Nadia; Khoda, Maryam Omid; Jahanbin, Arezoo; Vatankhah, Mona

    2014-03-01

    The current study aimed to investigate the coping strategies and level of psychological distress in mothers of patients with cleft lip and palate (CLP) and the family impact of this disorder. Participants were mothers of 55 children or adolescents with nonsyndromic CLP recruited from families attending a CLP clinic and 2 university hospitals in Mashhad, northeast of Iran. Family impact, psychological distress, and coping strategies were assessed using validated psychological questionnaires including Family Impact Scale, General Health Questionnaire, and Coping Response Inventory. Findings revealed that mothers relied more on the use of approach-oriented rather than avoidance-oriented coping strategies. According to General Health Questionnaire scores, 38.2% of mothers showed some evidence of psychological distress, and 23.6% were suspected of having severe psychological problems. Regarding the family impact of CLP, mothers reported the greatest impact to be on the family's financial status and parental emotions. Those mothers who used avoidant coping strategies reported a greater family impact of CLP (P = 0.002). Emotional discharge and acceptance coping were significant predictors of family impact (P = 0.037 and P = 0.035, respectively). Mothers of 13- to 18-year-old patients with CLP reported greater use of problem-solving coping strategy when compared with mothers of younger patients (P = 0.006). Child's age and coping strategies were not significant predictors of the level of mother's psychological distress. Increased knowledge about how parents cope with their child's craniofacial condition may help caregivers develop a more family-oriented care approach, which is sensitive to the psychosocial needs of parents, children, and their families.

  17. 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.

    PubMed

    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.

  18. Facts about Cleft Lip and Cleft Palate

    MedlinePlus

    ... 2008;199:237.e1-9. Margulis AV, Mitchell AA, Gilboa SM, Werler MM, Glynn RJ, Hernandez-Diaz S, ... e7. Werler MM, Ahrens KA, Bosco JL, Michell AA, Anderka MT, Gilboa SM, Holmes LB, National Birth ...

  19. Coping With Cleft: A Conceptual Framework of Caregiver Responses to Nasoalveolar Molding

    PubMed Central

    Sischo, Lacey; Broder, Hillary L.; Phillips, Ceib

    2014-01-01

    Objective To present a conceptual framework of caregiver coping and adaptation to early cleft care using nasoalveolar molding. Design In-depth interviews were conducted at three time points with caregivers of infants with cleft lip or cleft lip and palate whose children had nasoalveolar molding to treat their cleft. Qualitative data were analyzed using modified grounded theory. Results Most caregivers expressed initial apprehension and anxiety about the responsibilities of care associated with nasoalveolar molding (e.g., changing and positioning tapes, cleaning the appliance). In subsequent interviews, caregivers often reported positive feelings related to their active participation in their child’s treatment for cleft. These positive feelings were associated with increased self-esteem and feelings of empowerment for the caregivers. Although caregivers also identified burdens associated with nasoalveolar molding (e.g., stress related to lip taping, concerns about the appliance causing sores in their child’s mouth, travel to weekly appointments), they tended to minimize the impact of these issues in comparison with the perceived benefits of nasoalveolar molding. Conclusions Despite the increased burden of care, many caregivers of infants with cleft used nasoalveolar molding as a problem-focused coping strategy to deal with their child’s cleft. Completing nasoalveolar molding was often associated with positive factors such as increased empowerment, self-esteem, and bonding with their infant. PMID:25225840

  20. Demographics of orofacial clefts in Canada from 2002 to 2008.

    PubMed

    Pavri, Sabrina; Forrest, Christopher R

    2013-03-01

    Objective : Orofacial clefts such as cleft lip, cleft palate, and cleft lip and palate are the most frequent congenital anomalies of the head and neck. The purpose of this study was to determine the current demographics for orofacial clefts in Canada. Methods : A request for data from all Canadian provinces (excluding Quebec due to incompatibilities with provincial coding systems) for the fiscal years 2002-2003 to 2007-2008 was submitted to the Canadian Institute for Health Information. Variables evaluated included gender, cleft type, gestational age, birth weight, income quintile, and institution health region. Results : Over the period studied, the prevalence of orofacial clefts ranged from 11.0 to 15.3 per 10,000 live births (1 in 654 to 1 in 909 live births). The distribution of cleft types for live births with orofacial clefts was 17% for cleft lip, 41% for cleft palate, and 42% for cleft lip and palate, of which cleft lip and cleft lip and palate were male dominant (62% and 66% male, respectively) and cleft palate was female dominant (56% female). Saskatchewan and Manitoba had significantly higher cleft birthrates (P < .05) compared with the other provinces. Birth weight and gestational age (but not income quintile) were significantly (P < .0001) lower for newborns with orofacial clefting compared with those with no cleft. Conclusions : Canada has one of the highest orofacial cleft birthrates in the world (prevalence of 12.7 per 10,000 live births, approximately 1 in 790 live births). This study presents an updated demographic of orofacial clefts in Canadian newborns and may be useful in predicting the burden of anticipated health care.

  1. Three-dimensional evaluation of surgical techniques in neonates with orofacial cleft

    PubMed Central

    Carrara, Cleide Felício Carvalho; Ambrosio, Eloá Cristina Passucci; Mello, Bianca Zeponi Fernandes; Jorge, Paula Karine; Soares, Simone; Machado, Maria Aparecida Andrade Moreira; Oliveira, Thais Marchini

    2016-01-01

    Background: Individuals with cleft lip and palate have many anatomic and functional alterations compromising esthetics, hearing, speech, occlusion, and development/craniofacial growth. The rehabilitative treatment of these patients is very challenging and starts at birth aiming at the best treatment for all functional demands. This study aimed to evaluate the dimensional alterations of the dental arches of neonates with cleft lip and palate after two different primary surgical techniques. Materials and Methods: The sample comprised 114 digital models of children aged from 3 to 36 months, with unilateral complete cleft lip and palate divided into two groups. Two different phases were evaluated: precheiloplasty and 1 year after palatoplasty. The evaluation was performed through the digital models of each child obtained by scanning digitalization (3D Scanner). Dental arches measurements were accomplished through Appliance Designer software. The following measurements were assessed: dental arch area, anterior amplitude of the cleft, total length of dental arch, intercanine distance, and intertuberosity distance. t-test was applied to compare differences between groups. Results: No statistically significant differences were observed between groups at precheiloplasty phase. At 1 year after palatoplasty, the groups differed in the total length of dental arch (P = 0.002), with greater values for Group I. Conclusion: This study suggests that the results of the different surgical techniques may alter the growth and development of the dental arches of neonates with cleft lip and palate. PMID:28299266

  2. Use of Biphasic Continuous Positive Airway Pressure in Premature Infant with Cleft Lip–Cleft Palate

    PubMed Central

    George, Lovya; Jain, Sunil K.

    2015-01-01

    Preterm infants (PIs) often require respiratory support due to surfactant deficiency. Early weaning from mechanical ventilation to noninvasive respiratory support decreases ventilation-associated irreversible lung damage. This wean is particularly challenging in PIs with cleft lip and cleft palate due to anatomical difficulties encountered in maintaining an adequate seal for positive pressure ventilation. PI with a cleft lip and palate often fail noninvasive respiratory support and require continued intubation and mechanical ventilation. We are presenting the first case report of a PI with cleft lip and palate who was managed by biphasic nasal continuous positive airway pressure. PMID:26495158

  3. Sternal "retraction": a novel application of a mandibular distractor in treating ectopia cordis with complete cleft sternum.

    PubMed

    Gart, Michael S; Vicari, Frank A

    2015-05-01

    Complete thoracic ectopia cordis is associated with a uniformly dismal prognosis. The primary challenges of this disorder are (1) returning the heart to the thoracic cavity, (2) stabilizing the chest wall, and (3) repairing the sternal defect. Previously published techniques for achieving these goals have demonstrated very limited success and/or significant morbidity.We present a novel application of a mandibular distraction device as part of staged repair of this historically challenging problem. This method uses immediate stabilization and gradual "retraction" of the sternal remnants, thereby allowing physiologic compensation and avoiding the cardiorespiratory embarrassment associated with returning the heart to the thoracic cavity. Moreover, this technique allows stabilization of the associated sternal cleft and chest wall without the commonly associated morbidity of the currently available techniques.

  4. Preoperative evaluation of micro-organisms in non-operated cleft in soft palate: impact on use of antibiotics.

    PubMed

    Roode, G J; Bütow, K-W; Naidoo, S

    2017-02-01

    To identify the pathogenic micro-organisms that had colonised preoperatively in clefts in the soft palate and oro-nasopharynx, we retrospectively studied the preoperative microbiological profiles of 200 infants who had had primary repair of all types of cleft in the soft palate. Data from a private practice that specialises in the repair of facial clefts were extracted randomly from patients' files. We analysed the results of the culture of preoperative swabs taken from clefts in the soft palate and oro-nasopharynx, and the resistance profile of organisms towards various antibiotics. A total of 23 different pathogenic micro-organisms were isolated from 115 (57%) of the sample. Klebsiella pneumoniae most commonly colonised clefts in the lip, alveolus, and palate. This was considerably higher than in other groups. The second most common micro-organism was Staphylococcus aureus, which was found most often in patients with isolated clefts in the hard palate. Those with complete cleft lip and palate presented with more pathogenic micro-organisms in preoperative cultures than those with other types of cleft. We need to find a way to control pathogenic micro-organisms in the oral and oro-nasopharyngeal region preoperatively to limit postoperative complications.

  5. Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication

    PubMed Central

    Sedghi, Maryam; Abdali, Hossein; Memarzadeh, Mehrdad; Salehi, Mansoor; Nouri, Narges; Hosseinzadeh, Majid; Nouri, Nayereh

    2015-01-01

    Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements. A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic assessment and counseling for the patients. In this study, multiplex ligation probe dependent amplification (MLPA) analysis was performed on 378 patients with cleft lip and/or palate to characterize rearrangements in patients suspected of 22q11.2 microduplication and microdeletion syndromes. Of 378 cases, 15 were diagnosed with a microdeletion with various sizes and 3 with duplications. For the first time in this study an atypical 0.6 Mb duplication is reported. Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in the literature. PMID:26640714

  6. Is alveolar cleft reconstruction still controversial? (Review of literature)

    PubMed Central

    Seifeldin, Sameh A.

    2015-01-01

    Cleft lip and palate (CL/P) is a frequent congenital malformation that manifests in several varieties including unilateral or bilateral and complete or incomplete. Alveolar cleft reconstruction remains controversial with regard to timing, graft materials, surgical techniques, and methods of evaluation. Many studies have been conducted addressing these points to develop an acceptable universal protocol for managing CL/P. The primary goal of alveolar cleft reconstruction in CL/P patients is to provide a bony bridge at the cleft site that allows maxillary arch continuity, oronasal fistula repair, eruption of the permanent dentition into the newly formed bone, enhances nasal symmetry through providing alar base support, orthodontic movement and placement of osseointegrated implants when indicated. Other goals include improving speech, improvement of periodontal conditions, establishing better oral hygiene, and limiting growth disturbances. In order to rehabilitate oral function in CL/P patients alveolar bone grafting is necessary. Secondary bone grafting is the most widely accepted method for treating alveolar clefts. Autogenous bone graft is the primary source for reconstructing alveolar cleft defects and is currently the preferred grafting material. PMID:26792963

  7. The Facial Growth Pattern and the Amount of Palatal Bone Deficiency Relative to Cleft Size Should Be Considered in Treatment Planning

    PubMed Central

    2016-01-01

    Background: The aim of this study is to determine the best surgical/orthodontic treatment plan for the complete bilateral and unilateral cleft lip and palate patient to achieve all treatment goals of facial aesthetics, speech, dental function, and psychosocial development. Methods: Review of 40 years of serial complete bilateral cleft lip and palate and complete unilateral cleft lip and palate dental casts and photographs from birth to adolescence, with serial cephs starting at 4 years. This was part of a multicenter international 3-dimensional palatal growth study of serial dental casts of patients who developed good speech, occlusion, and facial growth. Results: Nasoalveolar molding and gingivoperiosteoplasty were introduced without proven longitudinal benefits. The procedure bodily retruded the premaxilla, which “telescoped” backward causing synostosis at the premaxillary vomerine suture. The resulting midfacial recessiveness with an anterior dental crossbite can only be corrected by midfacial protraction or a Le Fort I surgery. Conclusions: Staged orthodontic/surgical treatment limiting premaxillary retraction forces to lip adhesion or forces that cause only premaxillary ventroflexion produce the best results. The palatal cleft should be closed between 18 and 24 months when the ratio of the cleft to the palatal size medial to the alveolar ridge is at least 10%. The protruding premaxilla should only be ventroflexed but never bodily retruded. The facial growth pattern and degree of palatal bone deficiency are the main items to be considered in treatment planning. PMID:27579230

  8. Ten-Year Cleft Surgery in Nepal: Achievements and Lessons Learned for Better Cleft Care Abroad

    PubMed Central

    Pape, Hans-Dieter; Koch, Heribert; Koller, Michael

    2016-01-01

    Background: Cleft lip and palate surgery abroad is devoid of global consensus regarding standards of therapy, follow-up, and outcome. Cleft surgery in Nepal during a 10-year sustained program provided the opportunity to inform on the need for such standards. Methods: Medical records were evaluated from the cleft clinic at Sushma Koirala Memorial Hospital, Sankhu, Kathmandu, Nepal, from 1997 to 2007. Four groups were identified for analysis: total cohort, total surgical cohort (TSC), primary program patients (PPP; patients had not been operated on before), and nonprimary program patients (non-PPP; patients operated on elsewhere before). Patient demographics, diagnostic, primary and secondary surgery (corrective surgery), and follow-up were evaluated. Results: One thousand forty-five patients were eligible for surgery. Three hundred twenty-three of 1,045 patients (30.9%) did not seek treatment, although scheduled for surgery. One thousand two hundred one procedures were performed in 722 patients [TSC; 845 PPP (70.4%); 356 non-PPP (29.64%)]. Corrective procedures were performed in 257 of 1,201 [3.5% (30 of 845 procedures in 509 patients) PPP vs 63.7% (227 of 356 procedures in 213 patients) non-PPP]. One hundred six lips were completely reoperated on (1 PPP vs 105 non-PPP), and 42 palates underwent a total revision (5 PPP vs 37 non-PPP). The surgical outcome of the TSC group in terms of complication rate was similar to the one in developed countries. Conclusions: The high rate of corrective surgery reveals the need for global regulatory mechanisms and the need for nongovernmental organizations to introduce strategies for delivering sustained cleft care until achieving full rehabilitation. The World Health Organization should establish standards for cleft care delivered in less developed countries. PMID:27579235

  9. The Cleft Care UK study. Part 4: perceptual speech outcomes

    PubMed Central

    Sell, D; Mildinhall, S; Albery, L; Wills, A K; Sandy, J R; Ness, A R

    2015-01-01

    Structured Abstract Objectives To describe the perceptual speech outcomes from the Cleft Care UK (CCUK) study and compare them to the 1998 Clinical Standards Advisory Group (CSAG) audit. Setting and sample population A cross-sectional study of 248 children born with complete unilateral cleft lip and palate, between 1 April 2005 and 31 March 2007 who underwent speech assessment. Materials and methods Centre-based specialist speech and language therapists (SLT) took speech audio–video recordings according to nationally agreed guidelines. Two independent listeners undertook the perceptual analysis using the CAPS-A Audit tool. Intra- and inter-rater reliability were tested. Results For each speech parameter of intelligibility/distinctiveness, hypernasality, palatal/palatalization, backed to velar/uvular, glottal, weak and nasalized consonants, and nasal realizations, there was strong evidence that speech outcomes were better in the CCUK children compared to CSAG children. The parameters which did not show improvement were nasal emission, nasal turbulence, hyponasality and lateral/lateralization. Conclusion These results suggest that centralization of cleft care into high volume centres has resulted in improvements in UK speech outcomes in five-year-olds with unilateral cleft lip and palate. This may be associated with the development of a specialized workforce. Nevertheless, there still remains a group of children with significant difficulties at school entry. PMID:26567854

  10. Caregiver responses to early cleft palate care: A mixed method approach

    PubMed Central

    Sischo, Lacey; Clouston, Sean; Phillips, Ceib; Broder, Hillary L.

    2015-01-01

    Objective This study sought to understand caregivers’ (CGs’) responses to early cleft lip/palate care for their infants. Method A prospective, mixed methods multicenter longitudinal study was conducted among CGs (N=118) seeking treatment for their infants’ cleft lip and palate or cleft lip only at one of six cleft treatment centers in the United States. Participants were in one of two treatment groups: traditional care only or nasoalveolar molding (NAM) plus traditional care. The CGs completed semi-structured interviews and standardized questionnaires assessing psychosocial well-being and family impact at three time points: the beginning of treatment (~1 month of age), pre-lip surgery (~3–5 months of age), and post-palate surgery (~12–13 months of age). Multi-level modeling was used to longitudinally assess CGs’ psychosocial outcomes. Results While the first year was demanding for all CGs, NAM onset and the child’s lip surgery were particularly stressful times. CGs used optimism, problem-solving behavior, and social support to cope with this stress. Qualitatively, CGs’ ability to balance cleft treatment demands with their psychosocial resources and coping strategies influenced family adaptation. Qualitative and quantitative results indicated CGs of NAM-treated infants experienced more rapid declines in anxiety and depressive symptoms and better coping skills over time than CGs whose infants had traditional care. Conclusion CGs of NAM-treated infants experienced more positive psychosocial outcomes than CGs whose infants had traditional care. Results from the mixed model support the Family Adjustment and Adaptation Response Model as used in pediatric chronic condition research. PMID:26280177

  11. Application of ultrasound imaging of upper lip orbicularis oris muscle.

    PubMed

    Zhang, Wen-Hao; Chen, Yuan-Yuan; Liu, Jun-Jie; Liao, Xin-Hong; Du, Yang-Chun; Gao, Yong

    2015-01-01

    In this study, we aim to understand the morphology and structure of upper lip orbicularis oris muscle, and to provide clinical evidence for evaluating the effect of repair operation in cleft lip. Subjects included 106 healthy people and 36 postoperative patients of unilateral cleft lip. The upper lip orbicularis oris muscle was scanned using ultrasound in natural closure and pout states. Our results showed that the hierarchical structure of upper lip tissue was demonstrated clearly in ultrasonic images. After reconstruction of unilateral cleft lip, the left and right philtrum columns were still obviously asymmetric, their radian displayed clearly and showed better continuity. In the place of cleft lip side equivalent to philtrum columns, orbicularis oris muscle showed discontinuity and unclear hierarchical structure, which was replaced by hyperechoic scar tissue. The superficial layer would become thicker when pouting. In reconstructed unilateral cleft lip, the superficial layer was thinner than that of healthy controls. In normal upper lip orbicularis oris muscle, the superficial layer thickness was no less than 2.89 mm in philtrum dimple and no less than 3.92 mm in philtrum column, and the deep layer thickness was no less the 1.12 mm. Otherwise, the layer thickness less than above reference values may be considered as diagnostic criteria for dysplasia of upper lip orbicularis oris muscle. In conclusions, ultrasound imaging is able to clearly show the hierarchical structure of upper lip orbicularis oris muscle, and will be beneficial in guiding the upper lip repair and reconstruction surgery.

  12. Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate

    PubMed Central

    Liu, Huan; Leslie, Elizabeth J.; Jia, Zhonglin; Smith, Tiffany; Eshete, Mekonen; Butali, Azeez; Dunnwald, Martine; Murray, Jeffrey; Cornell, Robert A.

    2016-01-01

    Non-syndromic (NS) cleft lip with or without cleft palate (CL/P) is a common disorder with a strong genetic underpinning. Genome-wide association studies have detected common variants associated with this disorder, but a large portion of the genetic risk for NSCL/P is conferred by unidentified rare sequence variants. Mutations in IRF6 (Interferon Regulatory Factor 6) and GRHL3 (Grainyhead-like 3) cause Van der Woude syndrome, which includes CL/P. Both genes encode members of a regulatory network governing periderm differentiation in model organisms. Here, we report that Krüppel-like factor 17 (Klf17), like Grhl3, acts downstream of Irf6 in this network in zebrafish periderm. Although Klf17 expression is absent from mammalian oral epithelium, a close homologue, Klf4, is expressed in this tissue and is required for the differentiation of epidermis. Chromosome configuration capture and reporter assays indicated that IRF6 directly regulates an oral-epithelium enhancer of KLF4. To test whether rare missense variants of KLF4 contribute risk for NSCL/P, we sequenced KLF4 in approximately 1000 NSCL/P cases and 300 controls. By one statistical test, missense variants of KLF4 as a group were enriched in cases versus controls. Moreover, two patient-derived KLF4 variants disrupted periderm differentiation upon forced expression in zebrafish embryos, suggesting that they have dominant-negative effect. These results indicate that rare NSCL/P risk variants can be found in members of the gene regulatory network governing periderm differentiation. PMID:26692521

  13. Review of secondary alveolar cleft repair

    PubMed Central

    Cho-Lee, Gui-Youn; García-Díez, Eloy-Miguel; Nunes, Richard-Agostinho; Martí-Pagès, Carles; Sieira-Gil, Ramón; Rivera-Baró, Alejandro

    2013-01-01

    Introduction: The alveolar cleft is a bony defect that is present in 75% of the patients with cleft lip and palate. Although secondary alveolar cleft repair is commonly accepted for these patients, nowadays, controversy still remains regarding the surgical technique, the timing of the surgery, the donor site, and whether the use of allogenic materials improve the outcomes. The purpose of the present review was to evaluate the protocol, the surgical technique and the outcomes in a large population of patients with alveolar clefts that underwent secondary alveolar cleft repair. Materials and Methods: A total of 109 procedures in 90 patients with alveolar cleft were identified retrospectively after institutional review board approval was obtained. The patients were treated at a single institution during a period of 10 years (2001-2011). Data were collected regarding demographics, type of cleft, success parameters of the procedure (oronasal fistulae closure, unification of the maxillary segments, eruption and support of anterior teeth, support to the base of the nose, normal ridge form for prosthetic rehabilitation), donor site morbidity, and complications. Pre- and postoperative radiological examination was performed by means of orthopantomogram and computed tomography (CT) scan. Results: The average patient age was 14.2 years (range 4–21.3 years). There were 4 right alveolar-lip clefts, 9 left alveolar-lip clefts, 3 bilateral alveolar-lip clefts, 18 right palate-lip clefts, 40 left palate-lip clefts and 16 bilateral palate-lip clefts. All the success parameters were favorable in 87 patients. Iliac crest bone grafts were employed in all cases. There were three bone graft losses. In three cases, allogenic materials used in a first surgery performed in other centers, underwent infection and lacked consolidation. They were removed and substituted by autogenous iliac crest bone graft. Conclusions: The use of autogenous iliac crest for secondary alveolar bone grafting

  14. Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.

    PubMed

    Peltekova, Iskra T; Hurteau-Millar, Julie; Armour, Christine M

    2014-12-01

    Chromosome 10q deletions are rare and phenotypically diverse. Such deletions differ in length and occur in numerous regions on the long arm of chromosome 10, accounting for the wide clinical variability. Commonly reported findings include dysmorphic facial features, microcephaly, developmental delay, and genitourinary abnormalities. Here, we report on a female patient with a novel interstitial 5.54 Mb deletion at 10q24.31-q25.1. This patient had findings in common with a previously reported patient with an overlapping deletion, including renal anomalies and an orofacial cleft, but also demonstrated lobar holoprosencephaly and a Dandy-Walker malformation, features which have not been previously reported with 10q deletions. An analysis of the region deleted in our patient showed numerous genes, such as KAZALD1, PAX2, SEMA4G, ACTRA1, INA, and FGF8, whose putative functions may have played a role in the phenotype seen in our patient.

  15. Dental materials for cleft palate repair.

    PubMed

    Sharif, Faiza; Ur Rehman, Ihtesham; Muhammad, Nawshad; MacNeil, Sheila

    2016-04-01

    Numerous bone and soft tissue grafting techniques are followed to repair cleft of lip and palate (CLP) defects. In addition to the gold standard surgical interventions involving the use of autogenous grafts, various allogenic and xenogenic graft materials are available for bone regeneration. In an attempt to discover minimally invasive and cost effective treatments for cleft repair, an exceptional growth in synthetic biomedical graft materials have occurred. This study gives an overview of the use of dental materials to repair cleft of lip and palate (CLP). The eligibility criteria for this review were case studies, clinical trials and retrospective studies on the use of various types of dental materials in surgical repair of cleft palate defects. Any data available on the surgical interventions to repair alveolar or palatal cleft, with natural or synthetic graft materials was included in this review. Those datasets with long term clinical follow-up results were referred to as particularly relevant. The results provide encouraging evidence in favor of dental and other related biomedical materials to fill the gaps in clefts of lip and palate. The review presents the various bones and soft tissue replacement strategies currently used, tested or explored for the repair of cleft defects. There was little available data on the use of synthetic materials in cleft repair which was a limitation of this study. In conclusion although clinical trials on the use of synthetic materials are currently underway the uses of autologous implants are the preferred treatment methods to date.

  16. Molecular basis of cleft palates in mice

    PubMed Central

    Funato, Noriko; Nakamura, Masataka; Yanagisawa, Hiromi

    2015-01-01

    Cleft palate, including complete or incomplete cleft palates, soft palate clefts, and submucosal cleft palates, is the most frequent congenital craniofacial anomaly in humans. Multifactorial conditions, including genetic and environmental factors, induce the formation of cleft palates. The process of palatogenesis is temporospatially regulated by transcription factors, growth factors, extracellular matrix proteins, and membranous molecules; a single ablation of these molecules can result in a cleft palate in vivo. Studies on knockout mice were reviewed in order to identify genetic errors that lead to cleft palates. In this review, we systematically describe these mutant mice and discuss the molecular mechanisms of palatogenesis. PMID:26322171

  17. Submucous Clefts

    MedlinePlus

    ... that a child is evaluated for a submucous cleft palate is abnormal nasal speech. Other symptoms may include persistent middle ear disease and feeding/swallowing difficulties. A submucous cleft palate may be identified by the presence of a ...

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

    SciTech Connect

    Shaw, G.M.; Wasserman, C.R.; Lammer, E.J.

    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.

  19. Association between FOXE1 and non-syndromic orofacial clefts in a northeastern Chinese population.

    PubMed

    Liu, Kun; Lu, Yongping; Ai, Lisi; Jiao, Boqiang; Yu, Jiantao; Zhang, Bin; Liu, Qiang

    2015-10-01

    Non-syndromic orofacial clefts are among the most common congenital defects, and several reports have shown that the FOXE1 gene has strong associations with them. To find out if the gene was a risk factor we used a case-control and family-based analysis, and recruited 230 patients with non-syndromic oral clefts including 179 with non-syndromic cleft lip with or without cleft palate, and 51 with non-syndromic cleft palate alone, their parents (166 mothers and 161 fathers, including 135 complete trios), and 180 healthy controls. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to genotype the 2 most strongly associated markers (rs4460498 and rs3758249) in FOXE1, and case-control and family-based associations were analysed. In the case-control analyses we found a significant association with non-syndromic cleft lip and palate in rs4460498 (p=0.009) and rs3758249 (p=0.014), but no association in patients with cleft palate alone. For rs4460498 in FOXE1, the odds ratio (OR) for cases with CC homozygotes compared with TC+CC genotypes was 1.813 (95% CI 1.176 to 2.796), and for rs3758249 in FOXE1, the OR for cases with GG homozygotes compared with those with AG+AA genotypes was 0.561 (95%CI 0.371 to 0.848). The results of transmission-disequilibrium tests for rs4460698 and rs3758249 for non-syndromic orofacial clefts were p=0.003, OR=2.781 (95% CI 1.414 to 5.469) and p=0.001, OR=2.552 (95%CI 1.574 to 4.138), respectively. This suggests that FOXE1 (rs4460498 and rs3758249) is strongly associated with non-syndromic cleft lip and palate in populations in northeast China, and further study between FOXE1 and non-syndromic orofacial clefts is necessary.

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

    PubMed

    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

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

    PubMed Central

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

    2004-01-01

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

  2. Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts.

    PubMed

    VanderMeer, Julia E; Carter, Tonia C; Pangilinan, Faith; Mitchell, Adam; Kurnat-Thoma, Emma; Kirke, Peadar N; Troendle, James F; Molloy, Anne M; Munger, Ronald G; Feldkamp, Marcia L; Mansilla, Maria A; Mills, James L; Murray, Jeff C; Brody, Lawrence C

    2016-04-01

    Many folate-related genes have been investigated for possible causal roles in neural tube defects (NTDs) and oral clefts. However, no previous reports have examined the major gene responsible for folate uptake, the proton-coupled folate transporter (SLC46A1). We tested for association between these birth defects and single nucleotide polymorphisms in the SLC46A1 gene. The NTD study population included 549 complete and incomplete case-family triads, and 999 controls from Ireland. The oral clefts study population comprised a sample from Utah (495 complete and incomplete case-family triads and 551 controls) and 221 Filipino multiplex cleft families. There was suggestive evidence of increased NTD case risk with the rs17719944 minor allele (odds ratio (OR): 1.29; 95% confidence intervals (CI): [1.00-1.67]), and decreased maternal risk of an NTD pregnancy with the rs4795436 minor allele (OR: 0.62; [0.39-0.99]). In the Utah sample, the rs739439 minor allele was associated with decreased case risk for cleft lip with cleft palate (genotype relative risk (GRR): 0.56 [0.32-0.98]). Additionally, the rs2239907 minor allele was associated with decreased case risk for cleft lip with cleft palate in several models, and with cleft palate only in a recessive model (OR: 0.41; [0.20-0.85]). These associations did not remain statistically significant after correcting for multiple hypothesis testing. Nominal associations between SLC46A1 polymorphisms and both Irish NTDs and oral clefts in the Utah population suggest some role in the etiology of these birth defects, but further investigation in other populations is needed.

  3. TAR syndrome with orofacial clefting.

    PubMed

    Midro, A; Hubert, E; Preferansow, J; Iwaszkiewicz-Pawłowska, A

    1993-01-01

    A case of TAR syndrome with bilateral cleft lip and palate is presented. Bilateral symmetric focomelia, normal thumbs among five fingers of hands, synostosis of IVth and Vth metacarpal bones and some defects of lower limbs with associated thrombocytopenia were noted. Dysmorphic facial features included hypertelorism, epicanthus, blue sclerae, broad nasal root, micrognathia, low-set ears, sparse blond hair. To our knowledge this patient represents an unusual association of TAR syndrome with orofacial clefting. A common background of TAR and Roberts/SC syndrome is suggested.

  4. How to Feed Cleft Patient?

    PubMed Central

    Khan, Saima Yunus

    2013-01-01

    ABSTRACT Cleft lip and palate patients have all rights like other normal individuals, to enjoy the benefits of nourishment. Knowledge has to be there about the different feeding positions like straddle, dancer hand position along with the use of specially designed bottles and nipples. Parent's should be trained about the correct positions of feeding, in extreme of the cases in which parents are not able to follow these instructions, feeding obturators can be given. How to cite this article: Jindal MK, Khan SY. How to Feed Cleft Patient? Int J Clin Pediatr Dent 2013;6(2):100-103. PMID:25206201

  5. Comparison of the Pharyngeal Airway Volume between Non-Syndromic Unilateral Cleft Palate and Normal Individuals Using Cone Beam Computed Tomography

    PubMed Central

    Shahidi, Shoaleh; Momeni Danaie, Shahla; Omidi, Mahsa

    2016-01-01

    Statement of the Problem: Individuals with cleft lip and cleft palate mostly have airway problems. Introduction of cone beam computed tomography (CBCT) and imaging software has provided the opportunity for a more precisely evaluating 3D volume of the airway. Purpose: The purpose of this study was to analyze and compare 3D the pharyngeal airway volumes of cleft palate patients with normal individuals using CBCT. Materials and Method: 30 complete cleft palate patients were selected from the Department of Orthodontics; Dental University (Shiraz, Iran) who had CBCT scans of the head. The control group included 30 individuals with Class I angle occlusion who were matched for age and gender with the experimental group. ITK-SNAP 2.4.0 PC software was used to build 3D models of the airways for the subjects and measuring airway volumes. The statistical analyses were performed using SPSS software (version 19). Mann-Whitney test was adopted with p< 0.05 as statistical significance. Results: The average volume of the pharyngeal airway of cleft group was 18.6 cm3, with mean volumes of 6.8 cm3 for the superior component and 11.3 cm3 for the inferior component. The total and superior airway volume of cleft group were significantly lower than non-cleft groups (p= 0.008, p= 0.00, respectively) but the inferior airway volumes were not significantly different between the cleft and non-cleft groups. There was a significant and positive correlation between superior airway volume and inferior airway volume in cleft palate patients (r=+0.786, p< 0.001) and control group (r=+0.575, p= 0.001). Conclusion: 3D analysis showed that the nasal and total airway was restricted in individuals with cleft palate but the inferior airway was not compromised in these individuals. This would be a crucial data to be considered for surgeons during surgical planning. PMID:27840840

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

    PubMed

    Marius-Nunez, A L; Wasiak, D T

    2015-10-01

    Among the representations of congenital malformations in Moche ceramic art, cranio-facial clefts have been portrayed in pottery found in Moche burials. These pottery vessels were used as domestic items during lifetime and funerary offerings upon death. The aim of this study was to examine archeological evidence for representations of cranio-facial cleft malformations in Moche vessels. Pottery depicting malformations of the midface in Moche collections in Lima-Peru were studied. The malformations portrayed on pottery were analyzed using the Tessier classification. Photographs were authorized by the Larco Museo.Three vessels were observed to have median cranio-facial dysraphia in association with midline cleft of the lower lip with cleft of the mandible. ML001489 portrays a median cranio-facial dysraphia with an orbital cleft and a midline cleft of the lower lip extending to the mandible. ML001514 represents a median facial dysraphia in association with an orbital facial cleft and a vertical orbital dystopia. ML001491 illustrates a median facial cleft with a soft tissue cleft. Three cases of midline, orbital and lateral facial clefts have been portrayed in Moche full-figure portrait vessels. They represent the earliest registries of congenital cranio-facial malformations in ancient Peru.

  7. Parental Reactions to Cleft Palate Children.

    ERIC Educational Resources Information Center

    Vanpoelvoorde, Leah; Shaughnessy, Michael F.

    1991-01-01

    This paper reviews parents' emotional reactions following the birth of a cleft lip/palate child. It examines when parents were told of the deformity and discusses the duties of the speech-language pathologist and the psychologist in counseling the parents and the child. (Author/JDD)

  8. Parental Reactions to Cleft Palate Children.

    ERIC Educational Resources Information Center

    Vanpoelvoorde, Leah

    This literature review examines parental reactions following the birth of a cleft lip/palate child, focusing primarily on the mother's reactions. The research studies cited have explored such influences on maternal reactions as her feelings of lack of control over external forces and her feelings of guilt that the deformity was her fault. Delays…

  9. Cleft Lip and Palate (For Parents)

    MedlinePlus

    ... early adulthood, a dental implant. previous continue Speech Therapy Some kids will need speech therapy after a ... As for all kids, being involved in sports, music, and other activities will go a long way ...

  10. Cleft Lip and Palate (For Parents)

    MedlinePlus

    ... the Classroom What Other Parents Are Reading Your Child's Development (Birth to 3 Years) Feeding Your 1- to ... individual worth and accomplishments are celebrated. Encourage your child's friendships and relationships. Make friends with people who are different from ...

  11. Lip repositioning

    PubMed Central

    Gaddale, Reetika; Desai, Shrikar R.; Mudda, Jayashree A.; Karthikeyan, I.

    2014-01-01

    Excessive gingival display is a frequent finding that can occur because of various intraoral or extraoral etiologies. This report describes the use of surgical lip repositioning technique for the management of a gummy smile associated with vertical maxillary excess and hypermobility of the upper lip. The procedure restricts the muscle pull of the elevator lip muscles by shortening the vestibule, thus reducing the gingival display when smiling. Healing was uneventful and follow-up examinations of 10 months revealed reduced gingival display. For patients desiring a less invasive alternative to orthognathic surgery, lip repositioning is a viable alternative. PMID:24872640

  12. Cleft palate repair and variations

    PubMed Central

    Agrawal, Karoon

    2009-01-01

    Cleft palate affects almost every function of the face except vision. Today a child born with cleft palate with or without cleft lip should not be considered as unfortunate, because surgical repair of cleft palate has reached a highly satisfactory level. However for an average cleft surgeon palatoplasty remains an enigma. The surgery differs from centre to centre and surgeon to surgeon. However there is general agreement that palatoplasty (soft palate at least) should be performed between 6-12 months of age. Basically there are three groups of palatoplasty techniques. One is for hard palate repair, second for soft palate repair and the third based on the surgical schedule. Hard palate repair techniques are Veau-Wardill-Kilner V-Y, von Langenbeck, two-flap, Aleveolar extension palatoplasty, vomer flap, raw area free palatoplasty etc. The soft palate techniques are intravelar veloplasty, double opposing Z-plasty, radical muscle dissection, primary pharyngeal flap etc. And the protocol based techniques are Schweckendiek's, Malek's, whole in one, modified schedule with palatoplasty before lip repair etc. One should also know the effect of each technique on maxillofacial growth and speech. The ideal technique of palatoplasty is the one which gives perfect speech without affecting the maxillofacial growth and hearing. The techniques are still evolving because we are yet to design an ideal one. It is always good to know all the techniques and variations so that one can choose whichever gives the best result in one's hands. A large number of techniques are available in literature, and also every surgeon incorporates his own modification to make it a variation. However there are some basic techniques, which are described in details which are used in various centres. Some of the important variations are also described. PMID:19884664

  13. p63 and IRF6: brothers in arms against cleft palate.

    PubMed

    Gritli-Linde, Amel

    2010-05-01

    Cleft lip and cleft palate, which can also occur together as cleft lip and palate, are frequent and debilitating congenital malformations, with complex geneses that have both genetic and environmental factors implicated. Mutations in the genes encoding the p53 homolog p63 and interferon regulatory factor 6 (IRF6) are major causes of cleft lip and cleft palate, but the molecular and cellular mechanisms underlying this have not been clear. However, in this issue of the JCI, Thomason et al. and Moretti et al. independently show that p63 and IRF6 operate within a regulatory loop to coordinate epithelial proliferation and differentiation during normal palate development. Disruption of this loop as a result of mutations in p63 or IRF6 causes congenital clefting.

  14. Corticosteroid use during pregnancy and risk of orofacial clefts

    PubMed Central

    Hviid, Anders; Mølgaard-Nielsen, Ditte

    2011-01-01

    Background The association between the risk of orofacial clefts in infants and the use of corticosteroids during pregnancy is unclear from the available evidence. We conducted a nationwide cohort study of all live births in Denmark over a 12-year period. Methods We collected data on all live births in Denmark from Jan. 1, 1996, to Sept. 30, 2008. We included live births for which information was available from nationwide health registries on the use of corticosteroids during pregnancy, the diagnosis of an orofacial cleft and possible confounders. Results There were 832 636 live births during the study period. Exposure to corticosteroids during the first trimester occurred in 51 973 of the pregnancies. A total of 1232 isolated orofacial clefts (i.e., cleft lip, cleft palate, or cleft lip and cleft palate) were diagnosed within the first year of life, including 84 instances in which the infant had been exposed to corticosteroids during the first trimester of pregnancy. We did not identify any statistically significant increased risk of orofacial clefts associated with the use of corticosteroids: cleft lip with or without cleft palate, prevalence odds ratio (OR) 1.05 (95% confidence interval [CI] 0.80–1.38]; cleft palate alone, prevalence OR 1.23 (95% CI 0.83–1.82). Odds ratios for risk of orofacial clefts by method of delivery (i.e., oral, inhalant, nasal spray, or dermatologic and other topicals) were consistent with the overall results of the study and did not display significant heterogeneity, although the OR for cleft lip with or without cleft palate associated with the use of dermatologic corticosteroids was 1.45 (95% CI 1.03–2.05). Interpretation Our results add to the safety information on a class of drugs commonly used during pregnancy. Our study did not show an increased risk of orofacial clefts with the use of corticosteroids during pregnancy. Indepth investigation of the pattern of association between orofacial clefts and the use of dermatologic

  15. Epidemiology of orofacial clefts in the East of ireland in the 25-year period 1984-2008.

    PubMed

    McDonnell, Robert; Owens, Miriam; Delany, Caroline; Earley, Michael; McGillivary, Anne; Orr, David J; Duggan, Laura

    2014-07-01

    Objective : To describe the epidemiology of orofacial clefts in the east of Ireland. Design and Setting : A descriptive epidemiologic study on 851 cases of orofacial cleft identified over a 25-year period from 1984 to 2008 from more than 500,000 births. Results : There were 438 (51.5%) cases of cleft lip with or without cleft palate and 413 (48.5%) cases of cleft palate. The total birth prevalence was 16.0 per 10,000 births for all orofacial clefts, 8.2 for cleft lip with or without cleft palate, and 7.8 for cleft palate. Of all cases, 63.7% (542/851) occurred as isolated anomalies, 21.5% (183/851) were associated with multiple anomalies, and 14.8% (126/851) were associated with a syndrome or chromosomal anomaly. A significantly increasing trend over the 25-year period was observed for cleft lip with or without cleft palate associated with syndromes or chromosomal anomalies among mothers younger than 35 years but not in those older than 35 years. Conclusion : A slightly higher rate of orofacial clefts was observed in the east of Ireland than was observed in European and multinational studies during the study period, and there were higher rates of cleft palate. The rising trend in the proportion of mothers aged 35 years or older in Ireland is not contributing significantly to orofacial clefts associated with chromosomal syndromes.

  16. [Sequels of labial-alveolar-velopalatine clefts observed in charity missions. Analysis and management].

    PubMed

    Saboye, J; Chancholle, A-R

    2007-09-01

    A lot of children with cleft lip and palate are not operated in the developing world, due to a lack of surgeons, hospitals, or simply because the condition is not considered as a priority. Charity missions give the opportunity to repair these malformations. Non-operated cleft lip and palate are the first problem, but our surgery may cause growth disturbances and sometimes a second operation is needed, more difficult than the first one in mission conditions. Repairing a cleft palate needs to be adapted to the type of cleft but also to the age of the child, a velopalatine pharyngoplasty can be performed in some cases.

  17. Reading in Subjects with an Oral Cleft: Speech, Hearing and Neuropsychological Skills

    PubMed Central

    Conrad, Amy L.; McCoy, Thomasin E.; DeVolder, Ian; Richman, Lynn C.; Nopoulos, Peg

    2014-01-01

    Objective Evaluate speech, hearing, and neuropsychological correlates to reading among children, adolescents and young adults with non-syndromic cleft of the lip and/or palate (NSCL/P). Method All testing was completed in one visit at a Midwestern university hospital. Subjects in both the NSCL/P (n = 80) and control group (n = 62) ranged in age from 7 to 26 years (average age = 17.60 and 17.66, respectively). Subjects completed a battery of standardized tests evaluating intelligence, neuropsychological skills, and word reading. Subjects with NSCL/P also underwent speech assessment and past audiology records were evaluated. Results After controlling for age and SES, subjects with cleft performed significantly worse on a test of word reading. For subjects with cleft, word reading deficits were not associated with measures of speech or hearing, but were correlated with impairments in auditory memory. Conclusions These findings show poorer reading among subjects with NCL/P compared to those without. Further work needs to focus on correlates of reading among subjects with cleft to allow early identification and appropriate intervention/accommodation for those at risk. PMID:24188114

  18. Cleft palate - resources

    MedlinePlus

    Resources - cleft palate ... The following organizations are good resources for information on cleft palate : Cleft Palate Foundation -- www.cleftline.org March of Dimes -- www.marchofdimes.com/professionals/14332_1210.asp ...

  19. Prevalence of congenital heart diseases in oral cleft patients.

    PubMed

    Barbosa, M M; Rocha, C M G; Katina, T; Caldas, M; Codorniz, A; Medeiros, C

    2003-01-01

    To establish the prevalence of congenital heart diseases (CHDs) in cleft patients, the type of cleft and the presence of a syndrome were coded in 220 patients. A Doppler echocardiogram with color-flow mapping (DE) was obtained in all patients. Mean age was 112.0 +/- 101.2 months (range, 1-576 months), and 56.8% (125) were males. Cleft lip and palate occurred in 144 patients (65.5%), cleft lip in 40 (18.2%), and cleft palate in 36 (16.4%). Cleft palates were more frequent among females. Twenty-four CHDs were diagnosed in 21 of 220 patients (9.5%): 7 mitral valve prolapses, 6 atrial septal defects, 4 patent ductus arteriosus, 3 ventricular septal defects, 2 cases of tetralogy of Fallot, 1 pulmonary stenosis, and 1 bicuspid aortic valve. The presence of CHD did not correlate with the type of cleft. Syndromes occurred in 28 patients (12.7%), and this association was higher among patients with a cleft palate.

  20. The Relationship of Exposure to Anesthesia on Outcomes in Children With Isolated Oral Clefts.

    PubMed

    Conrad, Amy L; Goodwin, Jon W; Choi, James; Block, Robert I; Nopoulos, Peg

    2017-03-01

    This study evaluated the relationship between exposure to anesthesia and previously identified differences in cognitive functioning, growth, and volumetric brain measures among a sample of children, adolescents, and young adults with isolated oral clefts. Data from a cross-sectional study were combined with a retrospective chart review. Data were obtained for 87 participants with isolated cleft lip and/or palate (55% male), ranging from 7.5 to 27 years old (mean = 15.78, standard deviation = 4.58). Measures of interest included cognitive functioning, growth measures, and brain volumes. Number of surgeries and time under anesthesia were obtained through systematic medical record review. Potential sex and cleft type differences in exposure as well as relationships between anesthesia exposure and outcome measures were evaluated. Participants with isolated cleft lip and palate had more surgeries and were under anesthesia longer. For participants with isolated cleft lip only, more surgeries were correlated to lower verbal IQ and higher frontal lobe volume.

  1. An extraorally activated expansion appliance for cleft palate infants.

    PubMed

    Latham, R A; Kusy, R P; Georgiade, N G

    1976-07-01

    A new lever-action expansion appliance is described which is designed specifically for use in infants with cleft lip and palate. An extraoral control knob allows for easy activation, while the important anterior cleft areas are left clear for premaxillary repositioning and clinical assessment. Activation is registered by a positive clicking sound. Rapid expansion is made possible by the design of the appliance which is retained by stainless steel pins.

  2. The caries prevalence of oral clefts in eastern China

    PubMed Central

    Xiao, Wen-Lin; Zhang, Dai-Zun; Xu, Yao-Xiang

    2015-01-01

    Little information is available concerning the prevalence of caries among patients with oral clefts in Eastern China. Consecutive patients aged 6-18 with oral clefts were recruited. Patients were stratified into 2 groups according to their ages, namely Group I with aged 6-12 and Group II with aged 13-18. For each age group, the children were further divided into three subgroups according to the types of oral clefts they had: cleft lip/cleft lip and alveolus (CL), cleft palate only (CP), and cleft lip and palate (CLP). Dental caries were examined by using the decayed, missing, and filled index for primary teeth (dmft) and Decay, Missing and Filled index for Permanent teeth (DMFT) according to criteria of the World Health Organization. 268 eligible patients with oral clefts were included in the study. The mean DMFT for Group I was 1.77 (SD2.58) while that for Group II was 6.96 (SD4.35). The mean DMFT was statistically significant different between the age group I and age group II (t=12.21, P<0.05). In Group I, the dmft scores was 4.68 (SD3.67) for CL group, while that for the CP group was 7.36 (SD3.93), and that for the CLP group was 5.72 (SD 3.87). The mean dmft was no statistically significant different among cleft types (F=3.13, P>0.05). Also in Group I, the mean DMFT was 1.56 (SD2.18) for CL group, while that for the CP group was 1.24 (SD 1.81) and that for the CLP group was 2.08 (SD2.96). There were no statistically significant different in mean DMFT among different cleft types (F=1.09, P>0.05). In Group II, the mean DMFT was 6.06 (SD3.97) for CL group while that for the CP group was 7.71 (SD 4.94) and that for the CLP group was 7.05 (SD4.32). No significant difference was shown in the mean DMFT among different cleft groups (CL, CP, and CLP) (F=0.55, P>0.05). During assess the prevalence of dental caries among Eastern Chinese with oral clefts; the study confirmed that the prevalence of caries was increased with increasing age for oral clefts patients. It was

  3. The Correlation between Maternal Exposure to Air Pollution and the Risk of Orofacial Clefts in Infants: a Systematic Review and Meta-Analysis

    PubMed Central

    Rao, Ajit; Ahmed, Mairaj K.; Taub, Peter J.

    2016-01-01

    ABSTRACT Objectives The authors performed a systematic review and meta-analysis to investigate the possible correlation between ambient air pollution and orofacial cleft anomalies in newborns. Material and Methods A literature search was performed using the PubMed and Google Scholar, using the keywords “air pollution”, “cleft lip”, “cleft palate”, “carbon monoxide”, “ozone”, “sulfur dioxide”, “nitrogen oxide”, “nitrogen dioxide”, and “aerodynamic diameter”. Eight epidemiologic articles met the criteria of correlating either carbon monoxide (CO), ozone (O3), nitrogen oxides (NOx), airborne particulate matter of less than 10 µm in diameter (PM10), or sulfur dioxide (SO2) exposures with clefting of the palate alone, clefting of the lip alone, or clefting of the lip and palate. Odds ratios were extracted from the eight studies and tabulated in this meta-analysis. Quality analysis showed six high quality, one medium quality, and one low quality study. Results Meta-analysis of the combined data confirmed the association of O3 exposure and risk of orofacial cleft anomalies (OR = 1.08; P = 0.02). NOx was consistently associated with decreased risk of cleft lip with or without palate and cleft palate. Conclusions Ozone showed the strongest correlation with cleft lip and cleft palate anomalies. However, the studies overall showed an inconsistent correlation between orofacial clefts and air pollutants. PMID:27099696

  4. Cortical Clefts and Cortical Bumps: A Continuous Spectrum

    PubMed Central

    Furruqh, Farha; Thirunavukarasu, Suresh; Vivekandan, Ravichandran

    2016-01-01

    Cortical ‘clefts’ (schizencephaly) and cortical ‘bumps’ (polymicrogyria) are malformations arising due to defects in postmigrational development of neurons. They are frequently encountered together, with schizencephalic clefts being lined by polymicrogyria. We present the case of an eight-year-old boy who presented with seizures. Imaging revealed closed lip schizencephaly, polymicrogyria and a deep ‘incomplete’ cleft lined by polymicrogyria not communicating with the lateral ventricle. We speculate that hypoperfusion or ischaemic cortical injury during neuronal development may lead to a spectrum of malformations ranging from polymicrogyria to incomplete cortical clefts to schizencephaly. PMID:27630923

  5. Lip Lifting: Unveiling Dental Beauty.

    PubMed

    Stanley, Kyle; Caligiuri, Matthew; Schlichting, Luís Henrique; Bazos, Panaghiotis K; Magne, Michel

    2017-01-01

    The focus for the achievement of complete success in the esthetic zone has traditionally been on addressing deficiencies of intraoral hard and soft tissue. Often, these deficiencies are accompanied by esthetic concerns regarding the lips that are routinely neglected by the dental team. A predictable plastic surgery technique - the lip lift - has been used for decades to enhance lip esthetics by shortening the senile upper lip to achieve a more youthful appearance. Over the years, this technique has been refined and used in many different ways, allowing its routine incorporation into full facial esthetic planning. Through restoration of the upper lip to its optimal position, the artistry of the dentist and dental technician can truly be appreciated in the rejuvenated smile. By the introduction of this minimally invasive surgical technique to the dental community, patients stand to benefit from a comprehensive orofacial approach to anterior dental esthetic planning.

  6. Management of the Amniotic Band Syndrome with Cleft Palate: Literature Review and Report of a Case

    PubMed Central

    Cortez-Ortega, Carolina; Flores-Velázquez, Joselín; Ruiz-Rodríguez, Socorro; Noyola-Frías, Miguel Ángel; Santos-Díaz, Miguel Ángel

    2017-01-01

    Amniotic Band Syndrome (ABS) is a group of congenital malformations that includes the majority of typical constriction rings and limb and digital amputations, together with major craniofacial, thoracic, and abdominal malformations. The syndrome is caused by early rupture of the amniotic sac. Some of the main oral manifestations include micrognathia, hyperdontia, and cleft lip with or without cleft palate, which is present in 14.6% of patients with this syndrome. The purpose of this report was to describe the clinical characteristics and the oral treatment provided to a 6-month-old male patient affected with ABS with cleft lip and palate. PMID:28246561

  7. Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting

    PubMed Central

    Howe, B.J.; Cooper, M.E.; Vieira, A.R.; Weinberg, S.M.; Resick, J.M.; Nidey, N.L.; Wehby, G.L.; Marazita, M.L.

    2015-01-01

    Children with oral clefts show a wide range of dental anomalies, adding complexity to understanding the phenotypic spectrum of orofacial clefting. The evidence is mixed, however, on whether the prevalence of dental anomalies is elevated in unaffected relatives and is mostly based on small samples. In the largest international cohort to date of children with nonsyndromic clefts, their relatives, and controls, this study characterizes the spectrum of cleft-related dental anomalies and evaluates whether families with clefting have a significantly higher risk for such anomalies compared with the general population. A total of 3,811 individuals were included: 660 cases with clefts, 1,922 unaffected relatives, and 1,229 controls. Dental anomalies were identified from in-person dental exams or intraoral photographs, and case-control differences were tested using χ2 statistics. Cases had higher rates of dental anomalies in the maxillary arch than did controls for primary (21% vs. 4%, P = 3 × 10−8) and permanent dentitions (51% vs. 8%, P = 4 × 10−62) but not in the mandible. Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types. More anomalies were seen in the ipsilateral side of the cleft. Agenesis and tooth displacements were the most common dental anomalies found in case probands for primary and permanent dentitions. Compared with controls, unaffected siblings (10% vs. 2%, P = 0.003) and parents (13% vs. 7%, P = 0.001) showed a trend for increased anomalies of the maxillary permanent dentition. Yet, these differences were nonsignificant after multiple-testing correction, suggesting genetic heterogeneity in some families carrying susceptibility to both overt clefts and dental anomalies. Collectively, the findings suggest that most affected families do not have higher genetic risk for dental anomalies than the general population and that the higher prevalence of anomalies in cases is primarily a physical consequence of the cleft

  8. ABM Clinical Protocol #18: Guidelines for Breastfeeding Infants with Cleft Lip, Cleft Palate, or Cleft Lip and Palate, Revised 2013

    PubMed Central

    Reilly, Sheena; Reid, Julie; Skeat, Jemma; Cahir, Petrea; Mei, Christina

    2013-01-01

    A central goal of the Academy of Breastfeeding Medicine is the development of clinical protocols for managing common medical problems that may impact breastfeeding success. These protocols serve only as guidelines for the care of breastfeeding mothers and infants and do not delineate an exclusive course of treatment or serve as standards of medical care. Variations in treatment may be appropriate according to the needs of an individual patient. PMID:23886478

  9. ABM clinical protocol #18: guidelines for breastfeeding infants with cleft lip, cleft palate, or cleft lip and palate, revised 2013.

    PubMed

    Reilly, Sheena; Reid, Julie; Skeat, Jemma; Cahir, Petrea; Mei, Christina; Bunik, Maya

    2013-08-01

    A central goal of the Academy of Breastfeeding Medicine is the development of clinical protocols for managing common medical problems that may impact breastfeeding success. These protocols serve only as guidelines for the care of breastfeeding mothers and infants and do not delineate an exclusive course of treatment or serve as standards of medical care. Variations in treatment may be appropriate according to the needs of an individual patient.

  10. Speech and language in the patient with cleft palate.

    PubMed

    Mildinhall, Sue

    2012-01-01

    This chapter describes the normal development of speech and speech problems that may arise for the child born with cleft lip and/or palate. It describes current trends and the importance of multidisciplinary working in this complex field. The contribution of the speech and language therapist to the management of this population is considered.

  11. Is gravidity 4+ a risk factor for oral clefts? A case-control study in eight South american countries using structural equation modeling.

    PubMed

    Gili, Juan Antonio; Poletta, Fernando Adrián; Campaña, Hebe; Comas, Belén; Pawluk, Mariela; Rittler, Monica; López-Camelo, Jorge Santiago

    2013-09-01

    Background : There is disagreement about the association between cleft lip with or without cleft palate and multigravidity, which could be explained by differences of adjusting for maternal age, Amerindian ancestry, and socioeconomic status. Objective : The aim was to evaluate gravidity 4+ (four or more gestations) as a risk factor for cleft lip with or without cleft palate in South America. Design : We used a matched (1:1) case-control study with structural equation modeling for related causes. Data were obtained from 1,371,575 consecutive newborn infants weighing ≥500 g who were born in the hospitals of the Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC) network between 1982 and 1999. There were a total of 1,271 cases with cleft lip with or without cleft palate (excluding midline and atypical cleft lip with or without cleft palate). A total of 1,227 case-control pairs were obtained, matched by maternal age, newborn gender, and year and place of birth. Potential confounders and intermediary variables were analyzed with structural equation modeling. Results : The crude risk of gravidity 4+ was 1.41 and the 95% confidence interval was 1.14 to 1.61. When applying structural equation modeling, the effect of multigravidity on the risk of cleft lip with or without cleft palate was 1.22 and the 95% confidence interval was 0.91 to 1.39. Conclusions : Multigravid mothers (more than four gestations) showed no greater risk of bearing children who had cleft lip with or without cleft palate than mothers with two or three births. Therefore, the often observed and reported association between multigravidity and oral clefts likely reflects the effect of other risk factors related to low socioeconomic status in South American populations.

  12. Ocular Manifestations of Oblique Facial Clefts

    PubMed Central

    Ortube, Maria Carolina; Dipple, Katrina; Setoguchi, Yoshio; Kawamoto, Henry K.; Demer, Joseph L.

    2014-01-01

    Introduction In the Tessier classification, craniofacial clefts are numbered from 0 to 14 and extend along constant axes through the eyebrows, eyelids, maxilla, nostrils, and the lips. We studied a patient with bilateral cleft 10 associated with ocular abnormalities. Method Clinical report with orbital and cranial computed tomography. Results After pregnancy complicated by oligohydramnios, digoxin, and lisinopril exposure, a boy was born with facial and ocular dysmorphism. Examination at age 26 months showed bilateral epibulbar dermoids, covering half the corneal surface, and unilateral morning glory anomaly of the optic nerve. Ductions of the right eye were normal, but the left eye had severely impaired ductions in all directions, left hypotropia, and esotropia. Under anesthesia, the left eye could not be rotated freely in any direction. Bilateral Tessier cleft number 10 was implicated by the presence of colobomata of the middle third of the upper eyelids and eyebrows. As the cleft continued into the hairline, there was marked anterior scalp alopecia. Computed x-ray tomography showed a left middle cranial fossa arachnoid cyst and calcification of the reflected tendon of the superior oblique muscle, trochlea, and underlying sclera, with downward and lateral globe displacement. Discussion Tessier 10 clefts are very rare and usually associated with encephalocele. Bilateral 10 clefts have not been reported previously. In this case, there was coexisting unilateral morning glory anomaly and arachnoid cyst of the left middle cranial fossa but no encephalocele. Conclusions Bilateral Tessier facial cleft 10 may be associated with alopecia, morning glory anomaly, epibulbar dermoids, arachnoid cyst, and restrictive strabismus. PMID:20856062

  13. The lack of isolated palatal clefts in Czech Gypsies.

    PubMed

    Peterka, M; Peterková, R; Likovský, Z

    2006-01-01

    Orofacial clefts are usually divided into three basic types: isolated cleft lip (CL), cleft lip and palate (CLP) and isolated cleft palate (CP). The incidence of specific cleft types in a population and their relative numbers show specific differences between ethnic groups and races. However, there are no available data about the incidence and relative numbers of orofacial cleft types (CL, CLP, CP) in the gypsy ethnic group. The aim of this study was to compare relative numbers of specific types of orofacial clefts between the Czech gypsy and non-gypsy populations. We conducted a retrospective epidemiological study using a set of all living patients with orofacial clefts born in the Czech Republic from 1964 until 2002. The cleft patients were subdivided into three groups: 5304 non-gypsy children, both parents of whom were non-gypsies (NN), 98 gypsy children, both parents of whom were gypsies (GG) and 18 children with one parent non-gypsy and one parent gypsy (NG). The relative number of isolated CP was 37.1% in NN children. However, the relative number of CP was significantly reduced to 5.1% (P < 0.01) in the GG group. Conversely, the relative number of CLP was higher (P < 0.01) in the GG group (62.2%) in comparison to the NN group (39.2%). The tendency to decrease in the relative number of CP and increase in the relative number of CLP was also apparent in the NG group, but not so well expressed. We hypothesize that the decrease in CP and increase in CLP and CL in gypsies might be caused by their genetic predis-position to CL. Since the CP originates later than CL during embryonic development, some CP arise in embryos with already existing CL giving rise to CLP. Consequently, the missing isolated CP might be hidden in the group of CLP patients postnatally.

  14. A Case of Complex Facial Clefts Treated with Staged-tissue Expansion

    PubMed Central

    Shigemura, Yuka; Nuri, Takashi; Iwanaga, Hiroyuki; Seno, Takaya

    2014-01-01

    Summary: Craniofacial clefts involve all soft tissue and skeletal elements throughout the cleft. Usefulness of tissue expansion in craniofacial clefts is reported. Surgery for a complex type of facial clefts is more difficult and more extensive than for a simple one. We experienced a primary case of complex facial clefts (Tessier No. 2 and 12 on the right and 3, 11, and 5 on the left). Soft-tissue closure of all clefts could be completed by using 4 tissue expanders and 7 operations. Because multiple tissue deficiencies and abnormalities exist in craniofacial clefts, especially complex type, a planned, staged, sequential approach by tissue expansion is necessary to produce ideal results. PMID:25587498

  15. Development of speech services for people with cleft palate in Thailand: lack of professionals.

    PubMed

    Prathanee, Benjamas

    2012-11-01

    Cleft lip/palate is one of the most common birth defects and has a high incidence in Thailand. Most children with cleft still have social stigma from speech and language defects after surgical treatment. Speech and language therapies are required at an early age and require long-term care until teenager or adult. Unfortunately, there are insufficient speech services for cleft because of a lack of qualified speech and language pathologists in Thailand. Development consisted of two remedy modalities of bottom-up and top-down models, Community-Based Speech Therapy Model for people with Cleft Lip Cleft Palate including networking and standard assessments of both subjective and objective measurements. That might be the best and most suitable way to solve problems of lacking speech services in Thailand or developing countries which have similar contexts.

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

    PubMed

    Karthikeyani, Shanmugasundaram; Thirumurthy, Velliangattur Ramasamy; Yuvaraja, Bindhoo A

    2016-01-01

    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.

  17. Re-Visiting the Embryogenesis of the Human Lower Lip: An Overlooked Paradigm

    PubMed Central

    Vastardis, Heleni; Spyropoulos, Meropi N.; Burdi, Alphonse R.

    2012-01-01

    The rare opportunity to study a human fetus showing bilateral clefting of the lower lip along with other associated anomalies resembling those of the equally rare Pena–Shokeir phenotype prompts this report. The scarcity of reports on bilateral clefts of the lower lip has strengthened the conventional understanding or, perhaps even dogma that the lower lip and jaw develop from the progressive midline merging of just two mandibular prominences in the embryo. On the basis of observations stemming from this case report, it is proposed that yet another developmental event or process (in addition to the midline merging of the mandibular prominences) may be operable in the normal morphogenesis of the lower lip and anterior mandibular region. The bilateral paramedian clefting observed provides evidence that another distinct developmental region, a small medial process complements mandibular morphogenesis. PMID:22934080

  18. Influence of the Alveolar Cleft Type on Preoperative Estimation Using 3D CT Assessment for Alveolar Cleft

    PubMed Central

    Choi, Hang Suk; Choi, Hyun Gon; Kim, Soon Heum; Park, Hyung Jun; Shin, Dong Hyeok; Jo, Dong In; Kim, Cheol Keun

    2012-01-01

    Background The bone graft for the alveolar cleft has been accepted as one of the essential treatments for cleft lip patients. Precise preoperative measurement of the architecture and size of the bone defect in alveolar cleft has been considered helpful for increasing the success rate of bone grafting because those features may vary with the cleft type. Recently, some studies have reported on the usefulness of three-dimensional (3D) computed tomography (CT) assessment of alveolar bone defect; however, no study on the possible implication of the cleft type on the difference between the presumed and actual value has been conducted yet. We aimed to evaluate the clinical predictability of such measurement using 3D CT assessment according to the cleft type. Methods The study consisted of 47 pediatric patients. The subjects were divided according to the cleft type. CT was performed before the graft operation and assessed using image analysis software. The statistical significance of the difference between the preoperative estimation and intraoperative measurement was analyzed. Results The difference between the preoperative and intraoperative values were -0.1±0.3 cm3 (P=0.084). There was no significant intergroup difference, but the groups with a cleft palate showed a significant difference of -0.2±0.3 cm3 (P<0.05). Conclusions Assessment of the alveolar cleft volume using 3D CT scan data and image analysis software can help in selecting the optimal graft procedure and extracting the correct volume of cancellous bone for grafting. Considering the cleft type, it would be helpful to extract an additional volume of 0.2 cm3 in the presence of a cleft palate. PMID:23094242

  19. Apriori feasibility testing of randomized clinical trial design in patients with cleft deformities and Class III malocclusion

    PubMed Central

    McIlvaine, Elizabeth; Borzabadi-Farahani, Ali; Lane, Christianne J.; Azen, Stanley P.; Yen, Stephen L.-K.

    2014-01-01

    Objectives To assess the feasibility of randomizing treatment (surgical vs. non-surgical) for correction of a Class III malocclusion (underbite) resulting from an earlier repair of cleft lip and palate. Materials and methods Surveys about willingness to accept randomized treatment during adolescence were mailed to the parents of cleft lip and palate patients under the care of Children's Hospital Los Angeles between 2005 and 2010. The inclusion criteria were patients with cleft lip and palate, Class III malocclusion due to maxillary deficiency, and absence of medical and cognitive contraindications to treatment. Results Out of 287 surveys, 82 (28%) were completed and returned; 47% of the subjects held a strong treatment preference (95% CI, 35–58%), while 30% were willing to accept randomization (95% CI, 20– 41%). Seventy-eight percent would drop out of a randomized trial if dissatisfied with the assigned treatment (95% CI, 67–86%). The three most commonly cited reasons for being unwilling to accept random treatment assignment were 1) the desire for doctors to choose the best treatment, 2) the desire for parents to have input on treatment, and 3) the desire to correct the underbite as early as possible. Conclusion Based on this study, parents and patients would be unwilling to accept a randomly assigned treatment and would not remain in an assigned group if treatment did not meet expectations. This highlight the limitations associated with randomization trials involving surgical modalities and provide justification for other research models (e.g., cohort studies) to compare two treatment options when randomization is not feasible. PMID:24630053

  20. Oral clefts with associated anomalies: findings in the Hungarian Congenital Abnormality Registry

    PubMed Central

    Sárközi, Andrea; Wyszynski, Diego F; Czeizel, Andrew E

    2005-01-01

    Background Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data of cases with syndromic orofacial clefts from large population-based studies are infrequent. Methods Clinically recognized and notified syndromes and associations including cleft lip with or without cleft palate and other congenital anomalies were selected from the Hungarian Congenital Abnormality Registry (HCAR) between 1973 and 1982 and prevalence rates were calculated. Results Of 3,110 cases reported as having orofacial clefts, 653 had multiple congenital abnormalities. Of these, 60 (9.2%) had a known etiology (monogenic: 25 or 3.8%, chromosomal: 31 or 4.7%, teratogenic: 4 or 0.6%). Seventy-three subjects (11.2%) had schisis in addition to the oral cleft. Skeletal anomalies were the most common malformations among cases with cleft lip with/without cleft palate (CL/P) and cleft palate (CP). Disorders of the central nervous system and cardiovascular malformations were also frequently associated. Conclusion Surveillance systems, such as the HCAR, provide useful information about prevalence rates of congenital anomalies in a population. However, in a field where new syndromes are being discovered and classifications regularly updated, these rates should only be accepted as provisional. PMID:15985166

  1. Bone grafting, corticotomy, and orthodontics: treatment of cleft alveolus in a chinese cohort.

    PubMed

    Mao, Li-Xia; Shen, Guo-Fang; Fang, Bing; Xia, Yun-Hui; Ma, Xu-Hui; Wang, Bo

    2013-11-01

    Objective : A multimodal therapy was applied to solve a set of related problems including collapse of the posterior segment, high level gingival margin of canine, and resorption of grafted bone in a cohort of Chinese youngsters with cleft lip and palate. This study aimed to evaluate the benefits of this treatment procedure. Methods : Thirty patients with unilateral cleft lip and palate were included in this prospective study. All patients had previously undergone only cleft lip and palate repair and presented with alveolar cleft and an obvious step in the gingival margin between the canine tooth and the teeth beside it. A multimodal therapy that included bone grafting, corticotomy, and orthodontics was applied to solve these problems. Grafted bone volume, parallelism of the roots, root resorption, gingival margin, and mobility of the canine on the cleft side were established before surgery, 1 week after surgery, and after straightening of the canine. Results : Less than 25% of the grafted bone was reabsorbed in 25 of the 30 patients, while less than 50% was resorbed in the remaining five. The roots of the canines on the cleft side were mostly parallel to the adjacent teeth. Root resorption and mobility of the canines were slight. The difference in the gingival margin between the canines on the cleft side and the other side was small. Conclusions : Canines moved into the grafted bone safely and effectively, thus achieving a normal gingival margin and retaining grafted bone volume in one operation.

  2. Post Septorhinoplasty Custom-Made Unilateral Nasal Stent for Nasal Cleft Deformity

    PubMed Central

    Rathee, Manu; Bhoria, Mohaneesh; Boora, Priyanka

    2015-01-01

    Context: Nasal cleft deformity is a complicated problem. Utilization of nasal stent in post septorhinoplastyaims at establishing and maintaining airway patency, tissue position, and reduces tissue contracture after surgery. Case Report: A 16-year-old female patient presented with history of surgical reconstruction of congenital cleft lip and cleft palate with secondary septorhinoplasty of nasal cleft deformity. Patient was referred for nasal stent 1 week after septorhinoplasty. This case report provides a novel technique for fabrication of esthetic nasal stent after postseptorhinoplasty for secondary cleft nose deformity correction. Conclusion: This case report presents a simple, convenient technique for nasal stent fabrication for prevention of restenosis for cleft nose deformity post secondary septorhinoplasty. Provision of nasal stent allows breathing, maintains esthetics, comfort, nasal patency, and contour with minimal discomfort. PMID:25789253

  3. 3D Printed Models of Cleft Palate Pathology for Surgical Education

    PubMed Central

    Lioufas, Peter A.; Quayle, Michelle R.; Leong, James C.

    2016-01-01

    Objective: To explore the potential viability and limitations of 3D printed models of children with cleft palate deformity. Background: The advantages of 3D printed replicas of normal anatomical specimens have previously been described. The creation of 3D prints displaying patient-specific anatomical pathology for surgical planning and interventions is an emerging field. Here we explored the possibility of taking rare pediatric radiographic data sets to create 3D prints for surgical education. Methods: Magnetic resonance imaging data of 2 children (8 and 14 months) were segmented, colored, and anonymized, and stereolothographic files were prepared for 3D printing on either multicolor plastic or powder 3D printers and multimaterial 3D printers. Results: Two models were deemed of sufficient quality and anatomical accuracy to print unamended. One data set was further manipulated digitally to artificially extend the length of the cleft. Thus, 3 models were printed: 1 incomplete soft-palate deformity, 1 incomplete anterior palate deformity, and 1 complete cleft palate. All had cleft lip deformity. The single-material 3D prints are of sufficient quality to accurately identify the nature and extent of the deformities. Multimaterial prints were subsequently created, which could be valuable in surgical training. Conclusion: Improvements in the quality and resolution of radiographic imaging combined with the advent of multicolor multiproperty printer technology will make it feasible in the near future to print 3D replicas in materials that mimic the mechanical properties and color of live human tissue making them potentially suitable for surgical training. PMID:27757345

  4. Genetics of Cleft Palate and Velopharyngeal Insufficiency

    PubMed Central

    Sweeney, Walter M.; Lanier, Steve T.; Purnell, Chad A.; Gosain, Arun K.

    2015-01-01

    Velopharyngeal insufficiency (VPI) can occur in the setting of an unrepaired or repaired cleft lip and palate. The rate of VPI has been documented as high as 33% in some studies with higher rates of recurrences following surgery associated with genetic syndromes such as 22q11.2 deletions. The primary cause of VPI in these groups is still identified as the anatomic abnormalities of the velum. In this review, the anatomy and physiology of the velum are discussed along with genetic mutations associated with VPI. PMID:27617110

  5. A Innovative Technique - Modified Feeding Bottle for a Cleft Palate Infant

    PubMed Central

    Lingegowda, Ashwini Budunur; Rayannavar, Sounyala; Kumari, Nirmala

    2016-01-01

    Cleft lip and cleft palate are one of the most common craniofacial anomalies. Infants suffer a lot of difficulty in sucking during the initial few days after birth. There is even psychological stress to the parents due to improper feeding and the infants lose weight and are prone to nutritional insufficiency. Due to recent advancement in the medical field, there is a total repair of cleft lip and cleft palate and these procedures are performed in the later stages of infants. It is the multidisciplinary approach which includes pedodontist, oral surgeon, prosthodontist and speech therapist. In this article, the technique is highlighted to fulfill the feeding problem of infants in the early stages of birth with a modified feeding bottle. PMID:27190971

  6. A Innovative Technique - Modified Feeding Bottle for a Cleft Palate Infant.

    PubMed

    Hiremath, Vinuta Siddayya; Lingegowda, Ashwini Budunur; Rayannavar, Sounyala; Kumari, Nirmala

    2016-04-01

    Cleft lip and cleft palate are one of the most common craniofacial anomalies. Infants suffer a lot of difficulty in sucking during the initial few days after birth. There is even psychological stress to the parents due to improper feeding and the infants lose weight and are prone to nutritional insufficiency. Due to recent advancement in the medical field, there is a total repair of cleft lip and cleft palate and these procedures are performed in the later stages of infants. It is the multidisciplinary approach which includes pedodontist, oral surgeon, prosthodontist and speech therapist. In this article, the technique is highlighted to fulfill the feeding problem of infants in the early stages of birth with a modified feeding bottle.

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

    PubMed Central

    Adeyemo, Wasiu L; Ogunlewe, Mobolanle O; Desalu, Ibironke; Ladeinde, Akinola L; Mofikoya, Bolaji O; Adeyemi, Michael O; Adepoju, Adegbenga A; Hassan, Olufemi O

    2009-01-01

    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. PMID:23674906

  8. Feeding issues and interventions in infants and children with clefts and craniofacial syndromes.

    PubMed

    Miller, Claire K

    2011-05-01

    Problems with oral feeding occur in varying degrees in infants born with cleft lip/palate and/or craniofacial syndromes. The extent of clefting is associated with the severity of feeding problems, and if cleft lip/palate occurs in conjunction with a craniofacial syndrome, additional structural, airway, and neuromotor issues may be present. The infant's feeding and swallowing skills may be significantly impaired, characterized by inefficient oral feeding skills coupled with poor airway protection ability during swallowing. Inadequate airway protection during swallowing has serious implications for the infant's respiratory health as sequelae of chronic aspiration during feeding may include recurrent respiratory illness, pneumonia, and lung damage. Feeding difficulty in nonsyndromic and syndromic cleft lip/palate infants has been documented as source of considerable stress for parents and can have a potential negative effect on the parent-infant bonding process. Therefore, timely identification of feeding problems by the speech pathologist with subsequent intervention and modification in the feeding method is essential, along with provision of early feeding instruction to families. The objective of this article is to review expert opinion and available evidence regarding factors that influence feeding success and efficiency in infants with nonsyndromic and syndromic cleft lip/palate. The types of compensatory strategies or interventions that are effective in alleviation of feeding and swallowing difficulties will be described. Descriptive reports, expert opinion, and available evidence from clinical trials to support the use of feeding interventions in treatment are reviewed.

  9. Shaping Lips with Fillers

    PubMed Central

    Luthra, Amit

    2015-01-01

    The lips and the eyes enhance facial beauty, and they have been highlighted since time immemorial. Rejuvenating the lips with fillers, frequently hyaluronic acid (HA), is a common procedure but requires expertise. The objective of this text is to describe the procedure in detail and cover the practical aspects of injecting lips with fillers. An analysis of treating lips with needles and cannulae has been made with special emphasis on achieving optimum results. PMID:26644736

  10. An epidemiological and genetic study of facial clefting in France. I. Epidemiology and frequency in relatives.

    PubMed Central

    Bonaiti, C; Briard, M L; Feingold, J; Pavy, B; Psaume, J; Migne-Tufferaud, G; Kaplan, J

    1982-01-01

    The frequencies of cleft lip with or without cleft palate (CL(P)) and isolated cleft palate (CP) have been estimated in France to be 0.082% and 0.035%, respectively, after exclusion of malformation syndromes. A genetic and epidemiological study has been carried out on 468 patients with CL(P) and 163 with CP. The results are given in detail and some specific points are discussed: the apparently low incidence in France, the relationship between sex ratio and abortion rates, the maternal effects, and the possibility of an association between CL(P) and CP. PMID:7200146

  11. Parents' emotional and social experiences of caring for a child through cleft treatment.

    PubMed

    Nelson, Pauline A; Kirk, Susan A; Caress, Ann-Louise; Glenny, Anne-Marie

    2012-03-01

    Little is known about the experiences of parents caring for a child through long-term treatment for cleft lip and/or cleft palate. We conducted in-depth interviews with 35 parents with children between the ages of 20 weeks and 21 years to explore experiences across the treatment program. We analyzed the data using a constructivist grounded theory approach and present in detail in this article one subcategory from the analysis: managing emotions. Throughout childhood and adolescence, parents experienced conflicting emotions about their child's impairment, uncertainty about cleft treatment, and stigmatizing attitudes. Although parents attempted to manage emotional tensions by pursuing cleft treatments, the interventions could themselves be a source of conflict for them. We suggest that routine assessment of parents' emotional and social well-being should be included in cleft treatment programs, and access to psychosocial support made available.

  12. Periodontal plastic surgery for management of cleft alveolar ridge: a case report.

    PubMed

    Agrawal, Amit A; Yeltiwar, Ramreddy K

    2012-02-01

    Cleft lips, alveoli, and palates are the most common congenital malformations of the head and neck region, all of which often can be managed successfully when presented at a young age. It is a common belief that clefts in the alveolar ridge should be treated with the help of bone grafting materials. This could be the best option when the cleft is to be treated in early age, when the patient is still developing and has high regenerative potential. However, in adults, the literature supports the fact that bone grafting in alveolar clefts has a higher chance for failure. The present case report exemplifies a periodontal plastic surgical procedure involving a combination of connective tissue and free gingival grafting to restore the form and function of a cleft alveolar ridge in an adult patient.

  13. Congenital Palatal Fistula Associated with Submucous Cleft Palate

    PubMed Central

    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

  14. Maternal obesity is a risk factor for orofacial clefts: a meta-analysis.

    PubMed

    Blanco, R; Colombo, A; Suazo, J

    2015-10-01

    Orofacial clefts are the most prevalent birth defects that affect craniofacial structures and implicate genetic and environmental factors in their aetiology. Maternal metabolic state and nutrition have been related to these and other structural malformations, and studies of maternal obesity before pregnancy have shown controversial results about its association with the risk of orofacial clefts in their offspring. Our aim was to assess the combined effect of several single studies of maternal obesity on the risk of orofacial clefts using meta-analysis. We searched for these reports in the PubMed database, and selected 8 studies that met our criteria for eligibility. As a result of this analysis, and using maternal normal weight as a reference, we found that maternal obesity does increase the risk of orofacial clefts in their offspring (OR 1.18, 95% CI 1.11 to 1.26). When these clefts are considered separately, maternal obesity is associated with cleft lip with or without cleft palate (OR 1.13, 95% CI 1.04 to 1.23), and with cleft palate alone (OR 1.22, 95% CI 1.09 to 1.35). Our results support the relation between maternal obesity and orofacial clefts, and confirm two previous meta-analyses that considered fewer studies. However, the molecular mechanisms underlying this statistical evidence have not been fully elucidated.

  15. The cleft seal for bottle-feeding--A report on case studies.

    PubMed

    Dawjee, S M; Du Plessis, F

    2006-08-01

    Clefting of the lip and palate is the most frequent craniofacial malformation that occurs in newborn babies. The greatest immediate challenge facing a neonate with a cleft is to take nourishment. In developing countries and particularly in rural areas, palatal obturators and other aids that can assist in feeding are not easily available or accessible. The aim of this study was to develop, evaluate and report on the cleft seal, a simple and inexpensive device that is used with a feeding bottle to promote nourishment of a neonate with a cleft palate. The cleft seal is made of either silicone or thermoform plastic and consists of a spoon-like projection attached to a circular washer. The latter fits snugly between the teat base and collar of the feeding bottle, while the spoon-like projection forms a canopy over the teat and separates the nasal cavity from the mouth during feeding. Closure of the cleft emulates the natural feeding process and favours normal orofacial development. Results from this study indicate that there is an increase in nutritional intake over a shorter feeding time when using the cleft seal. Parents also report an absence of nasal regurgitation. The greatest advantage of the cleft seal lies in its negligible cost and ease of use, which can enable distribution and application in remote neonatal centres, where nursing and parental care givers are often at a loss as to what to do when faced with a newborn with a cleft palate.

  16. Clinical Aspects associated with Syndromic forms of Orofacial Clefts in a Colombian population

    PubMed Central

    Briceño Balcazar, Ignacio; Martinez Lozano, Julio; Collins, Andrew; Uricoechea Patiño, Daniel Alfredo

    2015-01-01

    Objectives: To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nested-series of cases. Methods: A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period. Results: The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms. Conclusions: These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out. PMID:26848196

  17. Cleft palate caused by congenital teratoma.

    PubMed

    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.

  18. Tobacco and alcohol use during pregnancy and risk of oral clefts. Occupational Exposure and Congenital Malformation Working Group.

    PubMed Central

    Lorente, C; Cordier, S; Goujard, J; Aymé, S; Bianchi, F; Calzolari, E; De Walle, H E; Knill-Jones, R

    2000-01-01

    OBJECTIVES: This study examined the relationship between maternal tobacco and alcohol consumption during the first trimester of pregnancy and oral clefts. METHODS: Data were derived from a European multicenter case-control study including 161 infants with oral clefts and 1134 control infants. RESULTS: Multivariate analyses showed an increased risk of cleft lip with or without cleft palate associated with smoking (odds ratio [OR] = 1.79, 95% confidence interval [CI] = 1.07, 3.04) and an increased risk of cleft palate associated with alcohol consumption (OR = 2.28, 95% CI = 1.02, 5.09). The former risk increased with the number of cigarettes smoked. CONCLUSIONS: This study provides further evidence of the possible role of prevalent environmental exposures such as tobacco and alcohol in the etiology of oral clefts. PMID:10705862

  19. Branchial cleft cyst

    MedlinePlus

    ... Branchial cleft cysts form during development of the embryo . They occur when tissues in the neck area ( ... Elsevier Saunders; 2015:chap 19. Read More Cyst Fetal development Review Date 11/3/2015 Updated by: ...

  20. Velopharyngeal function from the age of three to eight years in cleft palate patients.

    PubMed

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

    2001-01-01

    The purpose of this investigation was to study changes of velopharyngeal function between the ages of 3 and 8 years. The subjects were 65 (30 girls and 35 boys) Finnish-speaking non-syndromic children with isolated cleft palate (CP, n = 35) and with unilateral cleft lip and palate (UCLP, n = 30) operated primarily at the age of 1.0-2.0 years. Before the age of 8 years, 16 children required velopharyngoplasty (VPP, ad modum Hoenig). The children were followed up for speech at the age of 3, 6 and 8 years. The perceptual speech characteristics nasal air emission, hypernasality, weakness of pressure consonants and compensatory articulations were registered. Indications for a velopharyngeal flap (by VPP) were identified on the basis of perceptual speech characteristics and confirmed by instrumental examinations. The results indicated that the method and timing of primary palatoplasty and sex did not correlate with the quality of velopharyngeal function. It was good both in children treated conservatively or with VPP at the age of 8 years. The children with a flap required speech therapy significantly more often than other children. No child with VPP and only 12% of the children without VPP had simultaneous nasal air emissions and hypernasality. Compensatory articulation was completely eliminated and weakness of pressure consonants was diagnosed only in 1 child without VPP. The CP children required significantly more often a velopharyngeal flap than the UCLP children. In conclusion, the CP and UCLP children develop a similar velopharyngeal function but in a different way.

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

    MedlinePlus

    ... to replace missing teeth. Oral appliances called “speech bulbs” or “palatal lifts” may help close the nose ... assure the best possible result. When a speech bulb or palatal lift is developed, the prosthodontist usually ...

  2. [A case report on Waardenburg syndrome with cleft lip].

    PubMed

    Traoré, H; Traoré, D; Ouane, O; Simpara, B; Ongoiba, N

    2011-01-01

    The syndrome of Waardenburg is a congenital plurimal formatif unit rare described and individualized for the first time by Waardenburg in 1951. It associates in its form most typical dystopie canthale intern, a widening of the base of the nose, disorders of the pigmentation. We wanted brought back this case because of its scarcity. It was about a 18 month old infant without particular antecedents, which was drawn up to us for correction of congenital malformation. The interrogation did not make it possible to find signs functional notable. With the examination it had a general good state. t presented a bilateral iridal hypochromy, a dystopie canthale, a canitie, a bilateral labial slit. The diagnosis of presumption was the Syndrome of Waardenburg because of the description of at least 2 major signs: dystopie canthale and disorders of the pigmentation. The complementary examinations carried out were those of the preoperative assessment which returned normal. The biological diagnosis which rests on the search for change of gene was not made for reasons of technical order and financier. The surgery is centered on the treatment of the labial slit. A chéiloplastie according to Millard was carried out. The continuations were simple. The Syndrome of Waardenburg is a rare, hereditary entity. A neurosensory deafness, musculo-skeletal anomalies, thus qu' a disease of Hirschsprung will have to be systematically required. The surgery of the slit or the télécanthus allows an social integration of the subjects reached.

  3. Gonioscopically Guided Nonpenetrating Cyclodialysis Cleft Repair: A Novel Surgical Technique

    PubMed Central

    Rodrigues, Ian AS; Shah, Brinda; Goyal, Saurabh

    2017-01-01

    ABSTRACT Aim We present a novel surgical technique for repair of persistent and symptomatic cyclodialysis clefts refractory to conservative or minimally invasive treatment. Background Numerous surgical techniques have been described to close cyclodialysis clefts. The current standard approach involves intraocular repair of cyclodialysis clefts underneath a full-thickness scleral flap. Technique Our technique employs intraoperative use of a direct gonioscope to guide a nonpenetrating surgical repair. Subsequently, a significantly less invasive, nonpenetrating technique utilizing a partial-thickness scleral flap can be performed that reduces potential risks associated with intraocular surgery. The direct gonioscope is also used for confirmation of adequate surgical closure of the cyclodialysis cleft prior to completion of surgery. This technique has been successfully carried out to repair traumatic chronic cyclodialysis clefts associated with hypotony in two patients. There were no significant adverse events as a result of using this technique. Conclusion The novel technique described increases the likelihood of successful and permanent repair of cyclodialysis clefts with resolution of symptoms associated with hypotony, through direct intraoperative visualization of the cleft. Clinical significance Gonioscopically guided nonpenetrating cyclodialysis cleft repair offers significant benefits over previously described techniques. Advantages of our technique include gonioscopic cleft visualization, enabling accurate localization of the area requiring repair, and subsequent confirmation of adequate closure of the cleft. Using a partial-thickness scleral flap is also less invasive and reduces risks associated with treatment of this potentially challenging complication of ocular trauma. How to cite this article Rodrigues IAS, Shah B, Goyal S, Lim S. Gonioscopically Guided Nonpenetrating Cyclodialysis Cleft Repair: A Novel Surgical Technique. J Curr Glaucoma Pract 2017

  4. A Developmental Perspective on Assessment of Infants with Clefts and Related Disorders.

    ERIC Educational Resources Information Center

    Savage, Hallie E.; And Others

    1994-01-01

    This article presents a rationale for comprehensive developmental assessment for infants with cleft palates/lips and related disorders. The assessment model is based on risk factors influencing early development and on clinical research on developmental outcomes. Implications on the clinical assessment process and early intervention are discussed.…

  5. Cognitive Patterns and Learning Disabilities in Cleft Palate Children with Verbal Deficits.

    ERIC Educational Resources Information Center

    Richman, Lynn C.

    1980-01-01

    The study examined patterns of cognitive ability in 57 cleft lip and palate children (ages 7 to 9) with verbal deficit, but without general intellectual retardation to evaluate whether the verbal disability displayed by these children was related primarily to a specific verbal expression deficit or a more general symbolic mediation problem.…

  6. Phonological Proficiency of Two Cleft Palate Toddlers with School-Age Follow-Up.

    ERIC Educational Resources Information Center

    Lynch, Joan I.; And Others

    1983-01-01

    A comprehensive analysis of the speech-sound production at ages two-three, five, and seven of two children with repaired bilateral cleft lip and palate. Results indicated individual differences in that one S's emerging phonological system was more characteristic of developmental delay while the other was more characteristic of structural…

  7. Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities.

    PubMed

    Beaty, Terri H; Marazita, Mary L; Leslie, Elizabeth J

    2016-01-01

    Orofacial clefts include cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), which combined represent the largest group of craniofacial malformations in humans with an overall prevalence of one per 1,000 live births. Each of these birth defects shows strong familial aggregation, suggesting a major genetic component to their etiology. Genetic studies of orofacial clefts extend back centuries, but it has proven difficult to define any single etiologic mechanism because many genes appear to influence risk. Both linkage and association studies have identified several genes influencing risk, but these differ across families and across populations. Genome-wide association studies have identified almost two dozen different genes achieving genome-wide significance, and there are broad classes of 'causal genes' for orofacial clefts: a few genes strongly associated with risk and possibly directly responsible for Mendelian syndromes which include orofacial clefts as a key phenotypic feature of the syndrome, and multiple genes with modest individual effects on risk but capable of disrupting normal craniofacial development under the right circumstances (which may include exposure to environmental risk factors). Genomic sequencing studies are now underway which will no doubt reveal additional genes/regions where variants (sequence and structural) can play a role in controlling risk to orofacial clefts. The real challenge to medicine and public health is twofold: to identify specific genes and other etiologic factors in families with affected members and then to devise effective interventions for these different biological mechanisms controlling risk to complex and heterogeneous birth defects such as orofacial clefts.

  8. Genetic factors influencing risk to orofacial clefts: today’s challenges and tomorrow’s opportunities

    PubMed Central

    Beaty, Terri H.; Marazita, Mary L.; Leslie, Elizabeth J.

    2016-01-01

    Orofacial clefts include cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), which combined represent the largest group of craniofacial malformations in humans with an overall prevalence of one per 1,000 live births. Each of these birth defects shows strong familial aggregation, suggesting a major genetic component to their etiology. Genetic studies of orofacial clefts extend back centuries, but it has proven difficult to define any single etiologic mechanism because many genes appear to influence risk. Both linkage and association studies have identified several genes influencing risk, but these differ across families and across populations. Genome-wide association studies have identified almost two dozen different genes achieving genome-wide significance, and there are broad classes of ‘causal genes’ for orofacial clefts: a few genes strongly associated with risk and possibly directly responsible for Mendelian syndromes which include orofacial clefts as a key phenotypic feature of the syndrome, and multiple genes with modest individual effects on risk but capable of disrupting normal craniofacial development under the right circumstances (which may include exposure to environmental risk factors). Genomic sequencing studies are now underway which will no doubt reveal additional genes/regions where variants (sequence and structural) can play a role in controlling risk to orofacial clefts. The real challenge to medicine and public health is twofold: to identify specific genes and other etiologic factors in families with affected members and then to devise effective interventions for these different biological mechanisms controlling risk to complex and heterogeneous birth defects such as orofacial clefts. PMID:27990279

  9. Bone Grafting the Cleft Maxilla

    MedlinePlus

    ... Ideas Vehicle Donation Volunteer Efforts Bonegrafting the Cleft Maxilla skip to submenu Parents & Individuals Information for Parents & Individuals Bonegrafting the Cleft Maxilla To download the PDF version of this factsheet, ...

  10. Oral health-related quality of life in children with orofacial clefts.

    PubMed

    Ward, Jared A; Vig, Katherine W L; Firestone, Allen R; Mercado, Ana; da Fonseca, Marcio; Johnston, William

    2013-03-01

    Objectives : To determine the impact of orofacial clefts on the oral health-related quality of life of affected children and whether the oral health-related quality of life of children with orofacial clefts differs among different age groups. To assess whether the responses of children with orofacial clefts differ from the caregivers' perceptions of their child's oral health-related quality of life and compare with data from a control group. Design : Cross-sectional study. Patients/Setting : A total of 75 subjects with cleft lip and/or cleft palate (mean age, 13.0 years) from the Nationwide Children's Hospital Craniofacial Anomalies Clinic, as well as their caregivers, and 75 control subjects (mean age, 13.9 years). Main Outcome Measure : Self-reported oral health-related quality of life measured with the Child Oral Health Impact Profile, a reliable and valid questionnaire designed for use with children and teenagers. Results : Children with orofacial clefts had statistically significant lower quality of life scores than control subjects had for overall oral health-related quality of life, Functional Well-being, and Social Emotional Well-being. There was a statistically significant difference in the interaction of age group and Social-Emotional Well-being between children with orofacial clefts and control children. No statistically significant differences were found between the responses of children with orofacial clefts and their caregivers' reports. Conclusions : Presence of an orofacial cleft significantly decreases overall oral health-related quality of life, Functional Well-being, and Social-Emotional Well-being in children and adolescents. The negative impact of orofacial clefts on Social-Emotional Well-being is greater in 15- to 18-year-olds than in younger age groups. Children with orofacial clefts and their caregivers had very similar evaluations of the child's oral health-related quality of life.

  11. Treatment Approach for Maxillary Hypoplasia in Cleft Patients: Class III Elastics with Skeletal Anchorage (Report of Two Cases)

    PubMed Central

    Jahanbin, Arezoo; Kazemian, Mozhgan; Saeedi-Pouya, Iman; Eslami, Neda; Shafaee, Hooman

    2016-01-01

    Introduction: Treatment of cleft lip and palate patients requires a multidisciplinary plan. These patients usually have a hypoplastic maxilla due to the prior surgical scars. Orthognathic surgery to advance the maxilla in these patients is not very efficient; therefore, orthopedic interventions during an appropriate age seems to be essential. Case Report: In this article, two cleft lip and palate patients have been treated with Class III elastics anchored to the maxillary posterior and mandibular anterior miniplates in order to induce maxillary advancement. Conclusion: Both cases showed a significant improvement in their profiles with minimal dentoalveolar compensations. A counterclockwise rotation of the mandible occurred. PMID:27602343

  12. Orthognathic Consequences of Sphincter Pharyngoplasty in Cleft Patients: A 2-Institutional Study

    PubMed Central

    Yoshikane, Frances; Lai, Li Han; Hui, Brian K.; Martins, Deborah B.; Farias-Eisner, Gina; Mandelbaum, Rachel S.; Hoang, Han; Bradley, James P.; Wilson, Libby

    2016-01-01

    Background: Understanding long-term sequelae of cleft treatment is paramount in the refinement of treatment algorithms to accomplish optimized immediate and long-term outcomes. In this study, we reviewed sphincter pharyngoplasties as a method of velopharyngeal insufficiency (VPI) treatment in relationship to orthognathic surgery. Methods: Cleft lip/palate and cleft palate patients, 15 years of age and older, were reviewed for demographics, VPI surgery, revisions, and subsequent orthognathic surgery at 2 institutions. Chi-square test, Student’s t test, and logistic regression analyses were performed. Results: In 214 patients reviewed (mean age, 19.5 years), 61.7% were male, 18.2% had isolated cleft palate, 61.2% had unilateral cleft lip and palate, and 20.6% had bilateral cleft lip and palate. A total of 33.6% were diagnosed with VPI and received a sphincter pharyngoplasty (mean age, 11.9 years). When subsequent orthognathic surgery was examined, sphincter pharyngoplasty was not associated with maxillary advancement (P = 0.59) but did correlate with an increase in mandibular surgery from 2.8% to 11.1% (P = 0.02). The indications for mandibular surgery in the pharyngoplasty population were related to congenital micrognathia. When cephalometric analyses were evaluated, sphincter pharyngoplasty resulted in a decreased sella-to-nasion-to-B point angle (mean, 79.0–76.3 degrees, P = 0.02) and a higher incidence of normal to class II maxillomandibular relationships as defined by A point-to-nasion-to-B point angles >0.5 (P = 0.02). Conclusions: Sphincter pharyngoplasty decreases anterior mandibular growth and the discrepancy between maxillomandibular skeletal relationships because of the frequent predisposition of cleft patients to maxillary hypoplasia. In patients with congenital mandibular micrognathia, a small increase in mandibular surgeries may occur. PMID:27200238

  13. Branchial Cleft Cyst

    PubMed Central

    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

  14. Intermediate and Definitive Cleft Rhinoplasty.

    PubMed

    Gary, Celeste; Sykes, Jonathan M

    2016-11-01

    Intermediate and definitive cleft rhinoplasties are a challenging part of definitive cleft care. The anatomy of the cleft nose is severely affected by the structural deficits associated with congenital orofacial clefting. A comprehensive understanding of the related anatomy is crucial for understanding how to improve the appearance and function in patients with secondary cleft nasal deformities. Timing of intermediate and definitive rhinoplasty should be carefully considered. A thorough understanding of advanced rhinoplasty techniques is an important part of providing adequate care for patients with these deformities.

  15. Socio-Economic Status and Reproduction among Adults Born with an Oral Cleft: A Population-Based Cohort Study in Norway

    PubMed Central

    Sivertsen, Åse; Ariansen, Anja Maria Steinsland; Filip, Charles; Vindenes, Halvard A.; Feragen, Kristin B.; Moster, Dag; Lie, Rolv Terje; Haaland, Øystein A.

    2016-01-01

    Background It has been reported that people born with orofacial clefts do worse in life than their peers regarding a range of social markers, such as academic achievement and reproduction. We have compared otherwise healthy individuals with and without clefts, to investigate if these differences are due to the cleft or other background factors. Materials and Methods In a retrospective national cohort study, based on compulsory registers with data collected prospectively, we included everybody born in Norway between 1967 and 1992 (1490279 individuals, 2584 with clefts). This cohort was followed until the year 2010, when the youngest individuals were 18 years old. In order to ensure that the individuals were not affected by unknown syndromes or diseases, we excluded all individuals with any chronic medical condition, or who had other birth defects than clefts, hydroceles and dislocated hips. Individuals with oral clefts who were included in the study are said to have isolated clefts. Results Isolated cleft patients are similar to the general population regarding education, income and social class. Isolated cleft patients have lower fertility than the background population, but considering only married couples this difference in fertility disappeared. Conclusions An oral cleft did not appear to affect future socioeconomic status or chances of becoming a parent for children born in Norway. An exception was males with cleft lip and palate, but differences were small. PMID:27631472

  16. Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants

    SciTech Connect

    Shaw, G.M.; Wasserman, C.R.; O`Malley, C.D.

    1996-03-01

    Results of studies determine whether women who smoke during early pregnancy are at increased risk of delivering infants with orofacial clefts have been mixed, and recently a gene-environment interaction between maternal smoking, transforming growth factor-alpha (TGFa), and clefting has been reported. Using a large population-based case-control study, we investigated whether parental periconceptional cigarette smoking was associated with an increased risk for having offspring with orofacial clefts. We also investigated the influence of genetic variation of the TGFa locus on the relation between smoking and clefting. Parental smoking information was obtained from telephone interviews with mothers of 731 (84.7% of eligible) orofacial cleft case infants and with mothers of 734 (78.2%) nonmalformed control infants. DNA was obtained from newborn screening blood spots and genotyped for the allelic variants of TGFa. We found that risks associated with maternal smoking were most elevated for isolated cleft lip with or without cleft palate, (odds ratio 2.1 [95% confidence interval 1.3-3.6]) and for isolated cleft palate (odds ratio 2.2 [1.1-4.5]) when mothers smoked {ge} 20 cigarrettes/d. These risks for white infants ranged from 3-fold to 11-fold across phenotypic groups. Paternal smoking was not associated with clefting among the offspring of nonsmoking mothers, and passive smoke exposures were associated with at most slightly increased risks. This study offers evidence that the risk for orofacial clefting in infants may be influenced by maternal smoke exposures alone as well as in combination (gene-environment interaction) with the presence of the uncommon TGFa allele. 56 refs., 5 tabs.

  17. Alveolar Bone Grafting in Cleft Patients from Bone Defect to Dental Implants

    PubMed Central

    Vuletić, Marko; Jokić, Dražen; Rebić, Jerko; Žabarović, Domagoj; Macan, Darko

    2014-01-01

    Cleft lip and palate is the most common congenital deformity affecting craniofacial structures. Orofacial clefts have great impact on the quality of life which includes aesthetics, function, psychological impact, dental development and facial growth. Incomplete fusion of facial prominences during the fourth to tenth week of gestation is the main cause. Cleft gaps are closed with alveolar bone grafts in surgical procedure called osteoplasty. Autogenic bone is taken from the iliac crest as the gold standard. The time of grafting can be divided into two stages: primary and secondary. The alveolar defect is usually reconstructured between 7 and 11 years and is often related to the development of the maxillary canine root. After successful osteoplasty, cleft defect is closed but there is still a lack of tooth. The space closure with orthodontic treatment has 50-75% success. If the orthodontic treatment is not possible, in order to replace the missing tooth there are three possibilities: adhesive bridgework, tooth transplantation and implants. Dental implant has the role of holding dental prosthesis, prevents pronounced bone atrophy and loads the augmentation material in the cleft area. Despite the fact that autologous bone from iliac crest is the gold standard, it is not a perfect source for reconstruction of the alveolar cleft. Bone morphogenic protein (BMP) is appropriate as an alternative graft material. The purpose of this review is to explain morphology of cleft defects, historical perspective, surgical techniques and possibilities of implant and prosthodontic rehabilitation. PMID:27688373

  18. Environmental factors related to the occurrence of oral clefts in a Brazilian subpopulation

    PubMed Central

    Campos Neves, Ana Thereza de Saboia; Volpato, Luiz Evaristo Ricci; Espinosa, Mariano Martinez; Aranha, Andreza Maria Fabio; Borges, Alvaro Henrique

    2016-01-01

    Background: A cross-sectional study was conducted at the Craniofacial Rehabilitation Center in the General Hospital of the University of Cuiabá, Cuiabá city, Mato Grosso, Brazil. Materials and Methods: Poisson regression model was used to analyze the relationship between antenatal factors and the occurrence of oral clefts in 116 patients. Results: Oral clefts were more common in males (64.66%) and White race (46.02%). The mean age of the children was 21.91 months. The most common type of cleft was cleft lip and palate (CLP, 55.17%). Maternal and paternal smoking in the first trimester of pregnancy and parity were significantly associated with the occurrence of CLP. Parent's age, educational level, and occupation did not interfere in the occurrence of oral clefts. There was also no significant association between maternal illness, medication use, alcohol consumption, and maternal exposure to chemicals in the first trimester of pregnancy and the occurrence of clefts in this population. Conclusion: The analysis of the environmental factors present during the pregnancy of children with oral clefts revealed a significant association between parity (second onward), maternal smoking, and paternal smoking and the occurrence of CL and/or palate in this population. PMID:27397957

  19. Oro-nasal fistula development and velopharyngeal insufficiency following primary cleft palate surgery--an audit of 148 children born between 1985 and 1997.

    PubMed

    Inman, D S; Thomas, P; Hodgkinson, P D; Reid, C A

    2005-12-01

    We present an audit of primary cleft palate surgery in our unit including rates of two important post-operative complications. Multidisciplinary audit clinics ran from March 1998 to April 2002 to follow up all local patients with a cleft lip or palate who had undergone primary palatal surgery in our unit. One hundred and forty eight patients were studied. Patient ages at follow-up ranged from 3 years and 10 months to 17 years and 4 months. Two surgeons performed the primary surgery. One hundred and twenty eight Wardill-Kilner and 20 Von Langenbeck repairs were performed. We found a 4.7% rate of oro-nasal fistula development requiring surgical closure, and a 26.4% rate of velopharyngeal insufficiency (VPI) requiring subsequent pharyngoplasty. We noted that the type of cleft involved affected the rate of VPI, 16% of patients with unilateral cleft lip and palate versus 29.2% of patients with a solitary cleft palate requiring secondary surgery. Outcome of surgery was determined by a 'Cleft Audit Protocol for Speech' (CAPS) speech therapy assessment at follow-up clinics. Only 14.9% of all patients assessed demonstrated any degree of hypernasality. Our results compare favourably with other recent studies including the Clinical Standards Advisory Group (CSAG) report into treatment of children with cleft lip and palate.

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

    SciTech Connect

    Hwang, S.J.; Beaty, T.H.; Panny, S.

    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.

  1. Closing the cleft over a throbbing heart: neonatal sternal cleft

    PubMed Central

    J, Ashok Raja; G, Mathevan; K, Mathiarasan; P, Ramasubramaniam

    2014-01-01

    Sternal cleft is a rare anomaly comprising 0.5% of chest wall malformations. We present a case of a neonate with a ‘V’-shaped upper partial sternal cleft at birth. A hyperpigmented cutaneous nevi was present over the cleft. Primary approximation and closure of the defect was performed at 1 week of life. We discuss the presentation and management, and review the literature. PMID:25100810

  2. Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.

    PubMed

    Johansson, Stefan; Berland, Siren; Gradek, Gyri Aasland; Bongers, Ernie; de Leeuw, Nicole; Pfundt, Rolph; Fannemel, Madeleine; Rødningen, Olaug; Brendehaug, Atle; Haukanes, Bjørn Ivar; Hovland, Randi; Helland, Gunnar; Houge, Gunnar

    2014-07-01

    MEIS2 is a homeodomain-containing transcription factor of the TALE superfamily that has been proven important for development. We confirm and extend a recent single clinical report stating that deletions in MEIS2 can cause cleft palate [Crowley et al. (2010); Am J Med Genet 152A:1326-1327]. Here we report on five additional patients with 15q14 deletions of sizes 0.6, 0.6, 1.0, 1.9, and 4.8 Mb, respectively, all involving MEIS2. In addition, we present a family with four affected individuals and an intragenic 58 kb direct duplication disrupting MEIS2. In total, 7/9 cases had clefting, from mild (submucous cleft palate) to severe (cleft lip and palate), and 3/9 cases had ventricular septal defects. All cases had delayed motor development and most had learning disability, at worst in the mild intellectual disability range. The cases had overlapping facial features (broad forehead, finely arched eyebrows, mildly shortened philtrum, and tented upper lip) but individually they were not considered to be dysmorphic. Our results show that MEI