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Objective: Paired box 7 (PAX7) has been considered as a candidate gene for non-syndromic cleft lip with or without palate (NSCL/P). However, there is no research for the XXX, and previous studies concentrated on limited variants. This study aimed to conduct sufficiently dense and powerful scans of variants at PAX7 and explored the roles of variants at PAX7 in NSCL/P among the XXX. Design: Targeted region sequencing was performed to thoroughly screen variations, followed by a two-phase association analysis. 159 NSCL/P cases and 542 controls were analyzed in phase 1. Then in phase 2, the validation study was performed using 1626 cases and 2255 controls. We also explored the roles of variants at PAX7 gene in NSCL/P subtypes. Additionally, indirect associations were found by calculating LD and haplotypes. Setting: The study was conducted in XXX. Patients, participants: 159 NSCL/P cases and 542 controls were analyzed in phase 1. Then in phase 2, the validation study was performed using 1626 cases and 2255 controls. Interventions: Blood samples were collected. Main outcome measures: To explore the association analysis between variants at PAX7 and NSCL/P in XXX. Results: The results showed that rs2236810, rs114882979 and rs2236804 were significantly associated with NSCL/P, which were predicted to have regulatory functions. Besides, variants at PAX7 function differently in the NSCL/P subtypes. We also discovered a PAX7 missense variant, NM_001135254 p.A369 V (NM_002584.2:c.1106C > T). Conclusions: In summary, we confirmed 3 SNPs at PAX7 were significantly associated with NSCL/P in XXX and identified a missense variant, NM_001135254 p.A369 V (NM_002584.2:c.1106C > T). [ABSTRACT FROM AUTHOR]

Objectives: Although children with orofacial clefts have an increased risk for sleep-disordered breathing, no studies have examined the association of sleep duration. Thus, this study aimed to examine associations between orofacial clefts and sleep duration at 1 month, 6 months, 1 year, and 3 years of age in Japan. Design: A cohort study from the Japan Environment and Children's Study. Setting and Patients: This study consisted of 91 497 children, including ones with isolated cleft lip and palate (n = 69), isolated cleft lip only (n = 48), and isolated cleft palate only (n = 37), for which recruitment was undertaken during 2011 to 2014. Main Outcome Measures: Seep durations (hours per day) at 1 month, 6 months, 1 year, and 3 years of age, as reported by their mothers. Results: In the control group, mean sleep durations and standard deviations at 1 month, 6 months, 1 year, and 3 years of age were 15.2 (2.5), 13.6 (1.9), 12.9 (1.6), and 11.6 (1.2) h, respectively. Compared to the control group, linear regression models reported effect sizes and 95% confidence intervals shorter than 1 h for sleep duration of each type of isolated orofacial cleft at each time point. Conclusions: This study suggested null associations between isolated orofacial clefts and sleep duration at 1 month, 6 months, 1 year, and 3 years of age. Children with isolated orofacial clefts had sufficient mean sleep duration. [ABSTRACT FROM AUTHOR]

Objective: To examine the relationship between stigma experience related to facial appearance in Japanese youths with cleft lip and/or palate (CL/P) and their self-perception. Design: A cross-sectional study. Participants: Sixty-nine Japanese youths with CL/P (11-18 years old) Outcome measures: The participants' stigma experience in relation to facial appearance (measured with 7 single contextual scale items) and their self-perception (measured with 5 domain scores based on 30 perceptual items) were assessed using the Japanese version of the Youth Quality of Life Instrument-Facial Differences Module. Participants were categorized into high and low self-perception subgroups with a threshold of 1 standard deviation for each domain. The frequency of stigma experiences was compared between the following 2 subgroups: age, sex, cleft palate only versus other cleft, and high versus low self-perception. Correlations between the responses regarding stigma and all domain scores were examined. Results: Sixteen percent of the participants reported experiencing stigma. Hearing others say something about their face occurred significantly more frequently in youths 15 to 18 years of age than in youths 11 to 14 years of age. Stigma frequency was not found to differ by sex or cleft type. Stigma experiences were significantly more frequent for youth with higher scores across negative self-perception domains as well as higher coping skills. Significant correlations were identified between responses regarding stigma items and all domain scores (r = 0.27-0.63, p <.05). Conclusions: It was found that stigma experiences related to facial appearance may influence negative self-perceptions of facial differences as well as higher coping skills among Japanese youths with CL/P. [ABSTRACT FROM AUTHOR]

Objective: To assess the effect of two palatoplasty procedures, modified Furlow's palatoplasty (F procedure) and modified two-flap palatoplasty (T procedure), on the maxillofacial morphology of unilateral cleft lip and palate (UCLP) and bilateral cleft lip and palate (BCLP) during the primary dentition period. Design: Retrospective cohort study Setting: Department of Orthodontics, School of Dentistry, Showa University Participants: We enrolled 106 pediatric patients (63 boys, 43 girls; aged 4.43 ± 0.34 years) with non-syndromic orofacial clefts who underwent cheiloplasty and palatoplasty. Interventions: Patients were divided into four groups according to cleft type (BCLP or UCLP) and palatoplasty procedure type (F or T procedure). Main Outcome Measures: Maxillofacial morphology was assessed by examining parameters on lateral cephalograms. Results: Multiple comparisons revealed significant differences among N-A, N-ANS, and ANS-PNS distances and SNA and ANB angles among the groups. There were significant differences in N-A, N-ANS, ANS-PNS, SNA, and SNB among the UCLP and BCLP groups. The calculated effect sizes were all within 0.3–0.5. The statistical power was as follows: N-A, 86.41%; N-ANS, 79.77%; ANS-PNS, 97.49%; SNA, 96.88%; and ANB, 99.25%. Conclusions: Although UCLP and BCLP both exhibited differences in craniofacial distances and angles, the procedure type (either F or T procedure) had no significant effect on the maxillofacial morphology (as determined by lateral cephalograms). However, to rule out additional bias, patient-specific factors should be considered that may be affected by maxillofacial development when deciding surgical approaches. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to determine if the change in technique of soft palate closure or timing of hard palatal repair induced occlusal changes in patients with complete unilateral cleft lip and palate (CUCLP). Design: Retrospective study. Settings: A medical and dental hospital in Japan. Subjects: A total of 96 patients with CUCLP treated with 2-stage palatoplasty were included in the study and categorized into 3 groups (G1, G2, and G3) according to the protocol used. Interventions: G1 underwent soft palate repair using Perko method at 1.5 years of age and hard palate repair using vomer flap procedure at 5.5 years of age. Furlow method was used for soft palate repair in G2 at 1.5 years of age and hard palate repair using vomer flap procedure at 5.5 years of age. The Furlow method was used to repair the soft palate in G3 at 1.5 years of age and vomer flap procedure was used to repair the hard palate at 4 years of age. Main Outcome Measures: Two evaluators assessed the dental arch relationship using the modified Huddart/Bodenham (mHB) index on 2 separate occasions. Results: Intra- (intraclass correlation coefficient [ICC]: 0.962) and inter-examiner (ICC: 0.950) reliability showed very good agreement. The frequency of crossbite present in the major and minor segments gradually decreased with each change in protocol. Mean segmental scores showed no significant difference between 3 protocols (P >.05). Good inter-arch alignment occurred with all 3 surgical protocols (G1:82.6%, G2:89.8%, and G3:91.7%). Conclusions: There was no significant difference in the dental arch relationship outcomes between the 3 surgical protocols. The dentition status was comparable with all surgical protocols, even after the changes. [ABSTRACT FROM AUTHOR]

The frequency of cleft lip and palate births in Japan is approximately 0.146%. The study aimed to compare the effects of NAM on restoring nasal morphology and improving extraoral nasal morphology in children with cleft lip and palate in the first stage of treatment using 3D imaging and oral model analysis. The subjects were five infants (37.6 ± 14.4 days old) with unilateral cleft lip and palate. The images taken with the 3D analyzer and oral model used for constructing the NAM at the first examination (baseline) and at the completion of the pre-surgical orthodontic treatment (157.8 ± 37.8 days old) were analyzed. The cleft distance was measured at the upper, middle, and lower points on the 3D images. On the model, the cleft jaw width at the maximum protrusion of the healthy and affected sides of the alveolar bone was measured. After the pre-surgical orthopedic treatment, the measured value on the model decreased significantly by a mean of 8.3 mm from baseline, and the cleft lip width narrowed by an average of 2.8 ± 2.2, 4.3 ± 2.3, and 3.0 ± 2.8 mm at the upper, middle, and lower points of the cleft, respectively. Pre-surgical orthopedic treatment using NAM can help narrow the width of the cleft jaw and lip. The sample size is stated at the study limit in the paper. [ABSTRACT FROM AUTHOR]

This study aimed to document the complication status of infants with orofacial clefts born between 2011 and 2014 in Japan. This was a descriptive study using data from the Japan Environment and Children's Study. Among 103 060 pregnancies, 248 infants with orofacial clefts were included (livebirth, 239; stillbirth, 4; miscarriage, 5). The items of interest were complication status of orofacial clefts: isolated (typical orofacial clefts only); multi‐malformed (orofacial clefts with unrelated major defects); syndromic (orofacial clefts with a syndrome or a chromosomal defect). Regarding the cleft subtypes, of 248 infants with orofacial clefts, 104 had cleft lip with cleft palate (CLP) (41.9%), 68 had cleft lip without cleft palate (CL) (27.4%), 58 had cleft palate without cleft lip (CP) (23.4%), and 18 were nonclassified (7.3%). In infants with CLP, the proportions of isolated, multi‐malformed, and syndromic phenotypes were 73.1%, 15.4%, and 11.5%, respectively. In infants with CL, the proportions were 79.4%, 16.2%, and 4.4%, respectively. In infants with CP, the proportions were 69.0%, 13.8%, and 17.2%, respectively. The most frequently associated congenital anomaly was congenital heart disease. In infants with syndromic CLP, 41.7% had trisomy 13. In infants with syndromic CP, 80.0% had the Pierre Robin sequence. Congenital heart disease could be the most frequently associated congenital anomaly. The most frequently associated syndrome could be trisomy 13 in those with CLP and Pierre Robin sequence in those with CP. [ABSTRACT FROM AUTHOR]

Cleft lip and/or palate (CL/P), the most prevalent congenital anomaly, is understood to negatively affect a wide range of child development. Since the concept remains controversial, because most published work is from cross‐sectional studies, we examined the neurodevelopmental trajectories in participants with CL/P through a longitudinal comparison with the general population during early childhood using data from a nationwide birth cohort study in Japan. The linear mixed models for each domain of the Ages and Stages Questionnaire, third edition (ASQ‐3), were used to detect differences in standardised mean scores between groups. The ASQ‐3 is a general neurodevelopmental screening tool comprising communication, gross motor, fine motor, problem‐solving, and personal‐social domains. Participants' neurodevelopment was determined semi‐annually from 6 to 36 months of age. The trajectories of standardised mean scores in each domain showed several significant differences between the control and CL/P groups, with the maximum difference at 24 months of age in the communication domain. Indeed, CL/P was associated with significantly lower scores in the communication (coefficient: –3.31, 95% CI: –5.09 to –1.14), problem‐solving (coefficient: –3.13, 95% CI: –5.07 to –1.18), and personal‐social domains (coefficient: –1.99, 95% CI: –3.87 to –0.11). Trajectories of ASQ‐3 scores suggest neurodevelopmental delays in children with CL/P. [ABSTRACT FROM AUTHOR]

Background: Cleft lip and palate (cleft L/P) is one of the most common congenital anomalies and its etiology is assumed to be multifactorial. Recent epidemiological data involving a small number of participants suggested an association between perinatal exposure to heavy metals and cleft L/P in affected children. However, this association requires further investigation in a large cohort. Methods: This nested case–control study used a dataset of The Japan Environment and Children's Study, which is an ongoing research project to investigate the association between environmental factors and mother-child health. Participants were enrolled between 2011 and 2014. From the records of fetuses/children, we extracted data of isolated cleft L/P cases and matched children without cleft L/P at a ratio of 1:10. The exposures of interest were in utero exposure to four metals (mercury [Hg], lead [Pb], cadmium [Cd], and manganese [Mn]), which were sampled from mothers in the second/third trimester. Conditional logistic regression was used to assess the association between heavy metal exposure and isolated cleft L/P. Three sensitivity analyses were conducted to test the robustness of the findings, including the change in case definition and statistical methods. Results: Of 104,062 fetal records involving both live-birth and stillbirth, we identified 192 children with isolated cleft L/P and 1,920 matched controls. Overall, the blood metal levels were low (for example, median Pb level was 5.85, 6.22, and 5.75 μg/L in the total cohort, cases, and controls, respectively). Univariate and multivariate analyses showed that levels of none of the four heavy metals in the mother's blood during pregnancy were associated with the risk of cleft L/P in offspring; the adjusted odds ratios (per 1 μg/L increase) with 95% intervals were 0.96 (0.91–1.03), 1.01 (0.94–1.08), 1.00 (0.61–1.63) and 1.00 (0.97–1.03) for Hg, Pb, Cd and Mn, respectively. The results were consistent in all sensitivity analyses. Conclusions: Exposure to these four metals during pregnancy was not associated with isolated cleft L/P at the low exposure level in our cohort. [ABSTRACT FROM AUTHOR]

Objective: To determine whether orthodontically treated patients with cleft lip and palate (CLP) possess a different masticatory function than those of untreated patients with normal occlusion. Design: Occlusal contact area, occlusal force, as well as masseter and anterior temporal muscular activity were measured during maximum voluntary clenching (MVC) tests. Mandibular left and right lateral movements during mastication were also assessed. To further elucidate the nature of masticatory function, especially to determine the rate of abnormal jaw movement patterns, a parametric error index (EI) was set. Finally, masticatory efficiency was evaluated with a glucose sensitive measuring device. Participants: Fifteen patients with CLP who had previously completed the orthodontic treatments required to achieve an acceptable and more harmonious occlusion accepted to volunteer in this study along with 21 untreated patients who already possessed a normal occlusion. Results: Patients with CLP showed a significantly lower occlusal force, reduced occlusal contact area, and decreased masticatory efficiency as well as significantly higher EI value when compared with controls. However, there was no significant difference when analyzing muscle activity, although masticatory efficiency was significantly different between the 2 groups. Despite this result, the scores obtained by the patients with CLP in the masticatory efficiency tests were still in the normal range. Conclusions: Orthodontic treatment for adult patients with CLP provides a satisfactory result for the patients' masticatory ability albeit significantly less ideal compared with untreated patients with normal occlusion. [ABSTRACT FROM AUTHOR]

Aim: As patients with cleft lip and/or palate grow older, the main decision‐making process for treatment is likely to shift from a parent‐centered to a patient‐centered process. However, many adolescent patients have difficulty in treatment decision‐making. This study aimed to clarify the decision‐making process regarding undergoing surgery among adolescent patients with cleft lip and/or palate. Methods: Participants were adolescent patients with cleft lip and/or palate aged 14–18 years who were admitted to a hospital in Japan for surgery. Fourteen patients (six boys, eight girls) and their parents agreed to participate in this study. Data were collected in face‐to‐face semi‐structured interviews. Data were analyzed qualitatively with inductive content analysis. Results: Fifteen categories were classified into three themes for adolescent patients' decision‐making processes regarding undergoing surgery. The three themes were: (a) a doctor's recommendation for surgery, (b) psychological conflict about surgery, and (c) a final decision about surgery. Conclusion: This study's findings suggest that adolescent patients with cleft lip and/or palate were not adequately involved in the decision‐making process before undergoing surgery. Medical staff need to explain other treatment options, the risks and benefits of surgery with materials and methods that adolescent patients can understand as part of "a doctor's recommendation for surgery." Medical staff and parents need to encourage adolescent patients to communicate their preferences and values to reduce patients' "psychological conflict about surgery" and adolescent patients' intentions should be considered in "a final decision about surgery." [ABSTRACT FROM AUTHOR]

Objective: This study aims to assess occlusal relationships and frequency of oronasal fistula at 5 years of age following 2 hard palate closure techniques and to compare results. Design: Retrospective longitudinal study. Setting: Institutional study. Patients: Study patients included 57 patients with nonsyndromic complete unilateral cleft lip and palate who were consecutively treated. All patients underwent our early 2-stage protocol for palatoplasty, which consisted of soft palate plasty at 1 year of age and hard palate closure at 1.5 years of age. Twenty-nine patients underwent hard palate closure using vestibular flap (VF group) technique (2009-2011) and 28 patients underwent conventional hard palate closure with local palatal flap (LPF group) technique (2006-2008). Main Outcome Measures: Occlusal relationships were assessed with 5-year-olds' index, and frequency of oronasal fistula was investigated. Results: Average 5-year-olds' index scores for VF and LPF groups were 3.11 and 3.57, respectively (P <.001). Oronasal fistula occurred in approximately 7% of patients in the VF group and in 18% of patients in the LPF group. Conclusion: Hard palate closure with VF technique may provide better occlusal relationships at 5 years of age than does conventional local closure with the LPF. [ABSTRACT FROM AUTHOR]

Objective: To analyze congenital lateral maxillary growth for patients with bilateral cleft lip and palate (BCLP). Design: A retrospective study. Setting: Kanagawa Children's Medical Center. Materials: Images from computed tomography (CT) of patients with BCLP and control patients that were previously used for treatment. Main Outcome Measures: The following landmarks were used: A, the posterior most point of the piriform aperture; B, the superior most point of the acoustic meatus; C, the point at which line A-B intersects the line drawn perpendicular from line A-B to the maxillary tuberosity; and D, the apical most point of the nasal bone. The following distances were then measured using these landmarks: (1) A-B distance; (2) A-C distance; (3) A-C/A-B; (4) the angle between lines A-B and A-D (∠BAD); and (5) B-D distance. Result: Mean A-B and A-C distances and A-C/A-B were significantly smaller in the BCLP group than in the control group (P <.01 each). Mean ∠BAD was significantly larger in the BCLP group than in the control group (P <.01). Mean B-D distance did not differ significantly between groups. Conclusions: Our results indicated that the lateral maxillary segments of patients with BCLP were more posterior than those of the control group, and segment length was shorter compared to the control group on 3D-CT analysis. The lateral maxillary segments of patients with BCLP were basically suggested to originally be underdeveloped. [ABSTRACT FROM AUTHOR]

Purpose: Visual feedback therapy, using electropalatography (EPG), has been used to remedy residual articulation errors associated with cleft palate. The tongue-palate contact patterns of typical speakers without cleft palate are usually used as a model. However, it is questionable whether these model patterns are adequate for clients with repaired cleft palate, as their dento-palatal morphology is different from non-cleft speakers. The objective of this study was to investigate the differences in tongue-palate contact patterns between typical speakers with and without cleft palate. Method: EPG data were recorded for alveolar consonants in 15 participants with repaired unilateral cleft lip and palate (UCLP) whose speech was perceptually assessed as typical Japanese. The cumulative templates for each consonant were generated from the maximum contact frame; quantitative analyses (centre of gravity [CoG], variability index) were performed. Fifteen typical Japanese speakers without cleft served as a control group. Result: EPG patterns for each consonant were generally similar between groups. The CoG value of the UCLP group was significantly lower only for /s/. The average variability index was higher for every consonant but the comparisons did not reach significance. Conclusion: The typical tongue-palate contact patterns can be used as a model of visual feedback therapy. [ABSTRACT FROM AUTHOR]

Objective: The pathogenesis of nonsyndromic cleft lip with or without cleft palate (NSCL ± P) and nonsyndromic cleft palate only (NSCP) may be associated with genetic factors. Although some predisposing genes/loci have been reported, their attributable risk is too small to be clinically meaningful. To clarify the genetic causes and mechanisms of NSCL±P or NSCP, we conducted mutation analysis of target genes using a next-generation sequencing (NGS) approach. Methods: The target genes, IRF6, WNT5A, WNT9B, TP63, MSX1, TFAP2A, PAX9, DLX3, DLX4, and MN1, were selected based on previous reports of potential associations with the development of NSCL±P or NSCP from genome-wide association studies and candidate gene analyses. Mutation analysis was conducted using NGS on 74 Japanese trios (patient and parents) and 18 Japanese patients only families. Results: We detected single-nucleotide variants (SNVs) for 7 genes: IRF6, DLX4, WNT5A, TFAP2A, WNT9B, TP63, and PAX9. The SNVs found on IRF6 and DLX4 were missense mutations, whereas those identified on WNT5A, TFAP2A, WNT9B, TP63, and PAX9 were rare variants in the noncoding region; no de novo mutation was identified in the trio samples. The amino acid change on DLX4 was detected within the highly conserved homeodomain and was predicted to have a deleterious impact on the protein function by in silico analysis. Conclusions: The DLX4 missense mutation c.359C>T (Pro120Leu) was found in 1 Japanese patient with NSCL±P and was located in the homeodomain region. This mutation likely plays a role in the development of NSCL±P in the Japanese population. [ABSTRACT FROM AUTHOR]

Background: Cleft lip and/or palate is among the most prevalent congenital birth defects, and negatively affects maternal psychological status and may consequently result in higher prevalence of child maltreatment. However, the association of childbirths of infants with cleft lip and/or palate with maternal emotional involvement still remains unclear. We examined the association between childbirths of infants with cleft lip and/or palate and mother-to-infant bonding, using data from the Japan Environment and Children's Study, a nationwide birth cohort study.Methods: A cross-sectional study using the jecs-an-20,180,131 dataset was performed. A total 104,065 fetuses in 15 regional centres in Japan were enrolled after obtaining informed written consent. The Mother-to-Infant Bonding Scale, a self-report scale consisting of 10 items, was used to evaluate maternal bonding at one year after childbirth. Finally, the participants consisted of 79,140 mother-infant pairs, of which 211 mothers of infants with cleft lip and/or palate were included in our analyses. Multivariable logistic regression analysis using multiple imputation for missing data was performed to calculate the odds ratio and 95% confidence interval in the estimation of the association between bonding disorders and childbirths with cleft lip and/or palate.Results: No increased risk of bonding disorders was observed among all the mothers of infants with cleft lip and/or palate (odds ratio [95% confidence interval]; 0.97 [0.63-1.48], p = 0.880), however, advanced maternal age or multiple parity may adversely affect the associations between bonding disorders and cleft lip and/or palate, respectively. After stratification with a combination of maternal age and parity, a significant association of cleft lip and/or palate with bonding disorders was found only among advanced-age multiparae (odds ratio [95% confidence interval] = 2.51 [1.17-5.37], p = 0.018), but it was weakened after additional adjustment for maternal depression.Conclusions: Childbirths of infants with cleft lip and/or palate may increase the risk of bonding disorders among advanced-age multiparae, possibly through maternal depression. This finding provides valuable information for the provision of multidisciplinary cleft care. [ABSTRACT FROM AUTHOR]

Objective: This study examined whether the 2011 Tōhoku earthquake and tsunami affected the birth prevalence of cleft lip and/or cleft palate (CL/P) in Miyagi Prefecture, where the earthquake and tsunami caused severe damage. Design: This was a retrospective cohort study. Setting: The study was conducted at university and children's hospitals in Miyagi Prefecture. Participants: The annual and monthly numbers of infants born with CL/P were obtained from medical records. The affected period of birth was defined as 1 year from December 1, 2011, to November 30, 2012. The control period was 5 years from January 1, 2006, to December 31, 2010. The annual and monthly numbers of births in Miyagi Prefecture were obtained using e-Stat, which is a portal for Japanese government statistics. Main Outcome Measures: Main outcome measures were birth prevalence of CL/P during the control and affected periods. Results: There were no significant differences between the control and affected periods in the prevalence (per 10 000 live births) of cleft lip with or without palate (13.8 vs 16.7; P =.342), isolated cleft palate (5.2 vs 3.2; P =.267), or overall CL/P (19.0 vs 19.9; P =.799). Conclusions: We did not observe that the 2011 Tōhoku earthquake and tsunami affected the birth prevalence of CL/P in Miyagi Prefecture, even though it severely impacted human health in the area. [ABSTRACT FROM AUTHOR]

Objective: There have been few reports addressing asymmetric bilateral cleft lip repair with contralateral lesser form defects. Two studies have described the thin medial tubercle as the most common remaining labial deformity. In this study, we aimed to evaluate the use of a foxtail-shaped vermilion flap to reconstruct the median tubercle in primary repair. Design: A blinded retrospective study of photography and chart review. Setting: Shinshu University Hospital, tertiary care. Private practice. Patients: Forty-nine patients with asymmetric bilateral cleft lip with lesser form defects treated using a primary "unilateral" repair by the senior author (S.Y.) between 2007 and 2017. Interventions: The foxtail-shaped vermilion flap was applied at the time of the primary nasolabial repair. This flap is similar to Noordhoff laterally based triangular vermilion flap but with modifications to the shape and length. The body of the flap is wider than the pedicle to add tissue to the center of the vermilion, and the length is sufficiently elongated to reach the lesser side. Main Outcome Measure: Lip shape was graded on a 4-point scale when patients were 1 year old. Results: Twenty-two patients were treated with the foxtail-shaped vermilion flap (group A) and 27 patients with Noordhoff triangular vermilion flap (group B). Group A had a better lip shape than group B (P =.006). Conclusions: The foxtail-shaped vermilion flap is useful to reconstruct the median tubercle in asymmetric bilateral cleft lip repair with contralateral lesser form defects. [ABSTRACT FROM AUTHOR]

Objective: In unilateral cleft lip and palate, the reconstructed nasal floor is sometimes uplifted regardless of the reconstructive method used. We used a 5-0 absorbable anchoring suture, the oronasal transfixion suture (ONT suture), to fasten the reconstructed nasal floor to the orbicularis oris muscle to prevent this deformity. This study was performed to evaluate the effects of the ONT suture. Design: Blind retrospective study of photography and chart review. Setting: Shinshu University Hospital, tertiary care, Nagano, Japan. Private practice. Patients: Ninety-three consecutive patients with unilateral complete cleft lip and palate who had undergone primary nasolabial repair in our department and affiliated hospitals between 1999 and 2011 participated in this study. Finally, 45 patients were included. Interventions: The ONT suture was put in place at the time of primary nasolabial repair. Main Outcome Measure: The height of the nasal floor was evaluated on submental view photographs at 5 years old. Results: The ONT suture was applied in 21 patients. The height of the nasal floor on the cleft side was significantly closer to that on the noncleft side with the ONT suture than without the ONT suture (P = .008). Conclusions: The ONT suture is effective to prevent uplifted nasal floor deformity on the cleft side// in unilateral complete cleft lip and palate at the time of primary nasolabial repair. [ABSTRACT FROM AUTHOR]

Abstract: Objective: Orofacial clefts (OFCs) are common and etiologically complex birth defects. This study explored potential genetic differences in a pair of Japanese monozygotic (MZ) twins with different forms of OFC using whole‐genome sequencing. Subjects and Methods: One co‐twin (MZ‐1) presented with nonsyndromic bilateral cleft lip and palate; the other co‐twin (MZ‐2) had nonsyndromic bilateral cleft lip and unilateral left‐sided cleft alveolus. Neither parent had an OFC. Craniofacial morphologic features and potential genetic differences were compared using standard cephalometry and whole‐genome sequencing, respectively. Results: Morphologically, MZ‐1 had a smaller vertical mandibular height, compared to MZ‐2. However, no discordant genetic differences were detected. Moreover, both twins and their parents harbored rare candidate gene variants (GRHL3; TPM1) considered to be associated with OFCs. Conclusion: The observed differences between MZ‐1 and MZ‐2 in craniofacial morphology assessed by cephalograms might be directly attributable to the effects of the OFC on growth and/or differences in surgical history, given the lack of any differences in genetic background. However, comparisons of discordant MZ twins should continue to identify novel candidates that might control OFC or that might partly explain the missing heritability for this common birth defect, in addition to understanding craniofacial growth and development. [ABSTRACT FROM AUTHOR]

Craniofrontonasal syndrome (CFNS) is a very rare genetic disorder, the common physical malformations of which include coronal synostosis, widely spaced eyes, clefting of the nasal tip, and various skeletal anomalies. Mutations of EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases, is the cause of CFNS. Although familial CFNS cases have been reported, no studies in the literature describe familial cases of CFNS expressing bilateral cleft lip and palate. Here, we describe a Japanese family with three cases of CFNS expressing bilateral cleft lip and palate. [ABSTRACT FROM AUTHOR]

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

The article presents a nonrandomized, clinical trial with concurrent control comparing dental arch relationship outcomes following one- and two-stage palatoplasty for Japanese patients with complete unilateral cleft lip and palate. The study assessed dental arch relationships using the 5-Year-Olds' Index (5-Y) by four raters and the Huddart/Bodenham Index by two raters. Results suggest that the transversal relationship was better in the two-stage group than in the one-stage group.

Background The present study investigated when and how Japanese people with cleft lip and palate (CL/P) learn that their condition is congenital; the perceived effects of withholding the CL/P diagnosis on patients; and whether the resulting social experience and self-esteem are related. A questionnaire survey was conducted in 71 adults with CL/P recruited through a hospital, a patients' association, and by snowball sampling. Results The participants became aware of their physical difference in childhood, but many reported difficulty in understanding their condition. Participants reported that their families avoided the topic of diagnosis. Participants who understood their condition during childhood rather than in adulthood were significantly more likely to consider this scenario as positive (p < 0.001). Although stigmatising experiences were extremely painful, most patients hid their suffering, making it more difficult to obtain social support. Participants with high self-esteem were more likely to feel that they received adequate support. Conclusions It is important to explain the congenital nature of CL/P sufficiently and early. In addition, openness by the family about the diagnosis, rather than avoidance, may improve patients' self-esteem. Sufficient support from family, health care providers, and significant others is needed for patients to develop adequate self-esteem. [ABSTRACT FROM AUTHOR]

Objective: To investigate the change in occlusal evaluations from the 5-year-olds' index to the Goslon Yardstick and to compare the relationship between the evaluations and maxillofacial growth in patients with complete unilateral cleft lip and palate (UCLP). Design: A prospective longitudinal study. Subjects: The sample consisted of 85 patients with complete UCLP who underwent surgery from 1969 to 1994 and were treated at the Kyushu University Hospital in Fukuoka, Japan. Subjects had two serial dental casts performed at the ages of 5 and 10 years. Furthermore, each patient had lateral cephalographs taken at the age of 5 years, 76 of 85 subjects had films taken at the age of 10 years, and 54 subjects also had lateral cephalograms taken after the age of 15 years. Methods: Every dental cast was evaluated by the 5-year-olds' index and the Goslon Yardstick, respectively. The lateral cephalographs were traced and digitized, and angular dimensions were calculated. Outcomes were compared using Spearman's rank-order correlation analysis and the Kruskal-Wallis analysis. Results and Conclusion: Dental arch relationships were evaluated and rated as 2.96 in the 5-year-olds' index and 2.85 in the Goslon Yardstick, respectively. Both groupings showed a significant relationship, and they showed no change in 36 out of 85 subjects (42.3%), significant improvement in 30 (35.3%), and deterioration in 19 (22.3%). Two occlusal groupings and maxillofacial morphology on the cephalographs indicated that the grouping reflected the anteroposterior position of the mandible. Moreover, both groupings showed some relation to previous maxillofacial growth, but they did not show any relationship with future growth. The Goslon Yardstick may not predict maxillofacial morphology in adulthood. [ABSTRACT FROM AUTHOR]

The purpose of this study was to evaluate the initial defect and the outcome of bone grafts for unilateral alveolar cleft. To determine the absorption of the bone graft in patients with unilateral cleft, computer-aided engineering (CAE) with multi-detector row computed tomography (MDCT) was used. MDCT scans of 29 patients were taken immediately preoperatively and at 1 month and 6 months postoperatively. The patients underwent bone grafting between 8 and 14 years of age using iliac crest bone grafts. Three-dimensional models were created in each period, and the defect at the alveolar cleft and volume of the bone graft were determined in each patient using CAE. Cleft volume and success of alveolar bone grafting were significantly correlated (P < .01). Alveolar clefts with cleft palate required more bone volume than those without cleft palate (P < .01), but the resorption rate did not significantly differ between alveolar clefts with and without cleft palate (0.48 ± 0.14 and 0.49 ± 0.18, respectively; P=. 93). In conclusion, three-dimensional reconstruction of bone grafts using CAE based on MDCT provides a valuable objective assessment of graft volume. [ABSTRACT FROM AUTHOR]

Objective: To examine the changes in autogenous bone from 6 to 12 months after alveolar bone grafting (ABG) (T1) through completion of edgewise treatment (T2). Design: Retrospective longitudinal study. Setting: Multidisciplinary long-term follow-up at Kagoshima University Hospital. Patients: Forty-three patients with unilateral cleft lip and palate or alveolus. Main Outcome Measures: At T1 and T2, the bone bridge and quantity of grafted bone were evaluated using the Chelsea scale and the ABG scale. The cleft-adjacent tooth angles before ABG and at T2, as well as the number of orthodontic space closures, were examined. Patients were classified as having either adequate (type A or C; adequate group) or poor bone bridges (type B, D, E, or F; poor group) by the assessment at T1. Results: At T1, the ABG scores for the cleft-adjacent central incisor side of patients in the adequate group were higher than those of patients in the poor group (P < .001). At T2, the adequate group had higher ABG scores for the cleft-adjacent central incisor side (P= .022) and the canine sides (P = .034). No significant differences in tooth angles or the number of orthodontic space closures were noted between the groups. Conclusions: These results suggest that the quantity of grafted bone in the cleft-adjacent central incisor at 6 to 12 months post-ABG may be an indicator of the quantity of grafted bone that will be present after edgewise treatment. [ABSTRACT FROM AUTHOR]

Objective: To clarify the short- and long-term effects of maxillary protraction (MP) in mixed dentition in patients with unilateral cleft lip and palate (UCLP). Design: Retrospective study. Setting: University of Tokyo Hospital. Patients and Intervention: Eleven Japanese patients with UCLP in mixed dentition were treated with MP and followed up until the completion of growth. Multibracket treatment had been performed after MP treatment in all patients. Main Outcome Measure: Lateral cephalograms taken before and after MP and after completion of growth were used. Posterior and anterior vertical reference lines (PV, AV) were used to measure the horizontal movements of point A, pogonion, and maxillary first molar (U6). SNA, SNB, ANB, maxillary and mandibular length, mandibular plane angle, Wits value, upper incisor inclination, overjet, and overbite were also measured. Results: Large variation was found in the effects of MP, and five patients eventually required orthognathic surgery. In average change with MP, the maxilla showed favorable forward growth. Point A had moved forward from PV but not AV. The mandible rotated backward. However, ANB and the Wits value did not improve. U6 moved forward, and the overjet improved. After MP, the skeletal Class III relationship became severe. Conclusions: MP was effective as an early treatment for UCLP patients. However, its effects showed large variation and were in conflict with facial growth. Conscientious explanation of the expected effects and associated problems should be given to the patients/parents before its application. [ABSTRACT FROM AUTHOR]

Objective: Synthetic octacalcium phosphate and porcine atelocollagen composites significantly enhanced bone regeneration more than p-tricalcium phosphate collagen composite and hydroxyapatite collagen composite in a rat cranial defect model. However, the long-term stability and quality of octacalcium phosphate collagen (OCP/Col) composites-derived regenerated bone, when implanted in a canine alveolar cleft model, have yet to be elucidated. The present study investigated the longterm stability and quality of bone regenerated by OCP/Col. Design: Disks of OCP/Col or collagen were implanted in a canine alveolar-cleft model (n = 6). Then, bone regeneration in the implanted areas was investigated macroscopically, radiograph-ically, and histologically at 10 months after implantation. In addition, three-dimensional quantitative images of regenerated bone were analyzed by microcomputed tomography. Results: Macroscopically, the OCP/Col treated alveolus was clearly augmented, and radio-opacity in the OCP/Col implanted area was comparable to that of the original alveolus bone. On histological analysis, the area was mostly filled with newly formed bone, and a few granules of implanted OCP/Col were enclosed in it. In the microcomputed tomography analysis, the regenerated bone volume in the OCP/Col group was larger than that in the collagen group. OCP/ Col-derived bone consisted of outer cortical and inner cancellous structure with dense trabeculae and seemed like the original bone structure. Conclusions: OCP/Co composites could be a useful bone regenerative material to substitute for autogenous bone because their implantation could elicit high bone regeneration and active structural reconstitution. [ABSTRACT FROM AUTHOR]

Objective: To determine whether the long axis and eruption of the cleft-adjacent canine affect postoperative outcomes in secondary autogenous bone grafting (SABG). Design: Retrospective longitudinal study. Setting: Multidisciplinary long-term follow-up at Kagoshima University Hospital. Subjects and Methods: Twenty-five patients with complete unilateral cleft lip and palate (11 male, 14 female) were compared between unerupted and erupted groups for canine developmental stage, canine angle, and vertical height at bone grafting at 1 year and more than 4 years after SABG. The interalveolar septal heights at 1 and more than 4 years were evaluated by orthopantomograms. Results: All patients in both groups accomplished dental rehabilitation with orthodontic treatment alone without prosthetic appliances. Although the rate of an acceptable bone bridge tended to be lower in the unerupted group (62.5%) than in the erupted group (88.8%), the difference was not significant (P = .158). The canine angle at bone grafting was significantly different between acceptable (69.2° ± 12.2°) and poor cases (77.3° ± 6.2°) at more than 4 years in the unerupted group (P- .049). The acceptable bone bridge rate might reflect mechanical stress added by natural eruption and orthodontic force. Conclusions: We suggest that SABG should be planned in accordance with the canine angle, crown and root development, the eruption position of the cleft-adjacent canine, and the timing of added mechanical stress in the alveolar cleft, considering the bone formation in the alveolar cleft. [ABSTRACT FROM AUTHOR]

An interview with doctor Kazuo Tanne, the head of the Asian Orthodontic Society, is presented. Topics discussed include the travel of Tanne to Brazil to attend the 49th International Dental Meeting in Araraquara and his admiration to Brazilian culture, the status of Orthodontics and educational process in Japan, and the cleft lip or palate treatment in Japan wherein patients are covered by health insurance.

Objective: To quantify negative aesthetic ratings in primary unrepaired cleft lip infants by further refining our previously reported paired comparison method. Design: The Thurstone paired comparison method was used to quantify negative aesthetic ratings of plaster facial models selected and ordered according to a table of paired random numbers. Patients, Participants: A total of 30 facial models of unrepaired incomplete unilateral cleft lip infants were used in this study. Raters comprised 20 oral surgeons and anesthesiologists. Results: Quantification of aesthetic ratings for the 30 face models of unrepaired incomplete unilateral cleft lip infants was obtained. The ratings ranged from 0 to 5.08. Conclusion: Quantification of the aesthetic ratings for the 30 face models will be used as objective variables in a multivariate analysis in the third stage of this ongoing study. [ABSTRACT FROM AUTHOR]

Objective: Ectrodactyly-ectodermal dysplasia-clefting syndrome is a congenital anomaly characterized by ectodermal dysplasia, ectrodactyly, cleft lip and palate, and lacrimal duct anomalies. Because this syndrome is frequently accompanied by a congenital lack of teeth, narrow palate, and malocclusion, comprehensive orthodontic intervention is required. Design: To highlight the specific dental and maxillofacial characteristics of ectrodactyly-ectodermal dysplasia-clefting syndrome, six Japanese individuals diagnosed with the syndrome are described here. Patients: The subjects consisted of two boys and four girls (age range, 6.0 to 13.9 years) diagnosed with ectrodactyly-ectodermal dysplasia-clefting syndrome by medical and dental specialists. Their conditions included ectodermal dysplasia (hypodontia, microdontia, enamel hypoplasia, and abnormalities in hair and nails), cleft lip and/or palate, and ectrodactyly. Cephalograms, panoramic x-rays, and dental casts were. taken; systemic complications were recorded at the first visit to our dental hospital. Results: All individuals had severe oligodontia with 9 to 18 missing teeth. The missing teeth were mainly maxillary and mandibular incisors and second bicuspids, arranged in a symmetrical manner. Cephalometric analysis showed retruded and short maxilla due to cleft lip and/or palate. It is interesting that all individuals showed a characteristically shaped mandibular symphysis with a retruded point B. It is likely that this unusual symphyseal morphology is due to the lack of mandibular incisors. Conclusions: This study demonstrates the presence of severe oligodontia in the incisal and premolar regions and describes a characteristic maxillary and mandibular structure in Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the long-term maxillomandibular changes after maxillary distraction osteogenesis in growing children having cleft lip with or without cleft palate. Patients: Eight Japanese patients with cleft lip with or without cleft palate aged 9.3 to 13.1 years. Measures: The maxillary and mandibular positions before (T0), immediately after (T1), and 1, 3, and 5 years after distraction osteogenesis (T2, T3, and T4, respectively) measured on cephalograms superimposed at the sella turcica with the Frankfort horizontal plane as the horizontal reference. The anterior nasal spine (x, y), pogonion (x), and menton (y) were used for linear measurements, and sella turcica-nasion-point A, sella turcica-nasion-point B, and point A-nasion-point B angles were used for angular measurements. Results: The mean horizontal maxillary advancement (anterior nasal spine [x]) was 12.3 mm during T0 to T1, but -2.7, -1.1, and -0.1 mm of the posttreatment changes were observed during Ti to T2, T2 to T3, and T3 to T4, respectively. Anterior nasal spine (y) shifted 2.3 mm downward during T0 to T1, and further downward changes were observed during Ti to T2 and T2 to T3 (P < .05). Pogonion (x) did not show distinct changes due to individual variance, but menton (y) shifted downward from T1 to T4. Sella turcica-nasion-point A significantly decreased during T1 to T2 and T2 to T3 but not during T3-T4. Point A-nasion-point B significantly decreased only during T2 to T3, and sella turcica-nasion-point B did not show any distinct change. Conclusions: There was no further maxillary advancement after distraction osteogenesis in the growing children with cleft lip with or without cleft palate. Therefore, long-term observation and management of occlusion in case of the mandibular growth pattern are important. [ABSTRACT FROM AUTHOR]

Objective: Recent genome-wide association studies identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL±P) on 8q24.21, 10q25.3, 13q31.1, 15q13.3, 17q22, and 18q22 in populations of European origin. The purpose of this study was to determine, using DNA samples, whether 8q24.21 was a susceptibility locus for the development of NSCL±P in Japanese patients. Methods: We used DNA from 167 Japanese NSCL±P patients (45 cleft lip without cleft palate and 122 cleft lip with cleft palate patients) and 190 Japanese unaffected control individuals. We performed an association study using 13 single nucleotide polymorphisms (SNP5) selected on the 8q24.21 locus. Genotyping of each SNP was carried out by direct sequencing of genomic DNA. Additionally, a haplotype block was constructed using the selected SNPs. Results: The 13 selected SNPs were successfully genotyped in 357 individuals. The p values obtained were not low enough to indicate a significant association between the haplotypes and the development of NSCL±P in this population. Conclusions: Our results suggest that the 8q24.21 locus is not associated with susceptibility to NSCL±P in Japanese patients and provide further evidence that ethnicity is a strong factor in determining susceptibility loci, albeit using a limited number of samples. Further studies are needed to identify regions involved in the development of NSCL±P in the Japanese population. [ABSTRACT FROM AUTHOR]

The article focuses on a study conducted to investigate current trends in primary treatment for children with cleft lip and cleft palate in Japan. The study analyzed 4,349 children undergoing primary repair for cleft lip and palate at 107 participating institutions between 1996 and 2000. The results suggest the need for an increase in regional core hospitals and greater variation in treatment options.

The article discusses a longitudinal study which examines the impact of Hotz's plate and lip adhesion on patients with bilateral cleft lip and palate (BCLP). Findings reveal that the surgical operations affected the development of the anterior arch width, while dental arch length was affected by the collapse of the premaxilla. It also indicates that the use of Hotz's plate can prevent the fall down of the premaxilla.

The article discusses a study which examines the cases of proboscis lateralis. Findings reveal that six cases were determined with normal intercanthal distance, while hypertelorism and visible encephalocele had encephalopathy were observed in 27 and 10 cases, respectively. It concludes the need for a new classification scheme to meet clinical and embryological applications.

Summary: We describe the particularities of cleft lip and palate treatment in the department of plastic surgery managed by Pr Hosaka at the Showa University in Tokyo. Their surgical technic inherited from Pr Onizuka, their multidisciplinary approach, and their experience with over 300 cases a year were not reported in a non-Japanese journal. Therefore, we found interesting to describe their whole management. [ABSTRACT FROM AUTHOR]

Background: Appropriate sizes (internal diameters) and insertion depths of uncuffed preformed endotracheal tubes in children with cleft lip and palate, who generally have delayed growth and development in early infancy have not been elucidated. Methods: The sizes and insertion depths of endotracheal tubes in patients who received primary cheiloplasty and/or palatoplasty in relation to age, height, and weight were retrospectively analyzed. Tube sizes were determined using an appropriate air leakage at an airway pressure of 15–20 cmH2O. Tube insertion depths were confirmed by auscultation of bilateral breathing sounds at several tube depths, placing the tip 1.5 cm above the carina. Obtained data sets were compared with previously published studies. Results: The number of cases analyzed was 236 in total. The mean age, height, and weight were 327.4 ± 199.2 days, 69.7 ± 7.5 cm, and 8.2 ± 1.8 kg, respectively (mean ± sd). Neither the tube size nor tube depth in cleft lip and palate children was smaller or shorter than those of normal subjects. Discrepancies between the preformed bend and the tube insertion depth increased as the tube size increased. Conclusions: The current findings suggest that it is reasonable to apply the currently available standards for normal children, e.g. Motoyama’s general guide, to predict the tube size and insertion depth for Japanese cleft lip and palate children, and that the use of the uncuffed preformed endotracheal tube is associated with a risk of endobronchial intubation, which appears to increase with age. [ABSTRACT FROM AUTHOR]

Objective: Evaluation of the dental arch relationships of Japanese patients with unilateral cleft lip and palate (UCLP) from the orthodontic clinic of the University of Tokyo Hospital (UTH) compared with patients treated by the Oslo Cleft Team, Norway. Design: Retrospective study and comparison with previous reports. Materials: Dental models of 24 patients with UCLP in UTH taken before orthodontic treatment and before alveolar bone grafting were included. Surgeons in many hospitals performed primary surgeries. These models were matched for age and gender with 24 models from a consecutive series of patients treated by the Oslo Cleft Team as part of the Eurocran Good Practice Archive. A total of 48 models were evaluated. Main Outcome Measure: Dental arch relationship was rated with the Goslon Yardstick. The strength of agreement of rating was assessed with weighted kappa statistics. Results: Intra- and interexaminer agreements evaluated by weighted kappa statistics were high, indicating good reproducibility. Almost 60% of the patients in UTH were classified into poor or very poor categories, and the mean Goslon score was 3.50. These results show a contrast to those in Oslo and were the poorest in comparison with previous reports. Conclusion: Dental arch relationships in patients with UCLP in UTH were poor. This seemed to be attributable to surgical procedures, but a factor of racial difference in the craniofacial morphology was also considered. Further intercenter research is required to clarify this point. [ABSTRACT FROM AUTHOR]

Objective: The goal of this study was to use three-dimensional (3D) analysis to characterize the primary facial deformities in children with unilateral cleft lip and palate (UCLP) and then serially analyze the relationships between facial deformities and maxillofacial growth from infancy to adolescence. Participants: Twenty-one Japanese subjects with unilateral cleft lip and alveolus (UCLA) and 20 with UCLP who had been operated on and then followed up for more than 15 years were enrolled in this study. Main Outcome Measures: Facial cast models taken at cheiloplasty were scanned with a 3D laser scanner. Lateral cephalographs taken when subjects were 15 years of age or older were traced, and linear and angular measurements were calculated. The correlation between primary facial forms and maxillofacial morphology in adolescence was analyzed. Results: Three-dimensional analysis showed larger ocular hypertelorism, wider cleft, greater deviation of the columella base, and more severe retruded position of the affected nasal alar base in subjects with UCLP than those with UCLA. Total surface area of the upper lips in subjects with UCLP was significantly smaller than those with UCLA. Correlation analyses revealed that the width of cleft lip, deviation of the columella base, difference of the nose base width, and surface area of the upper lip were statistically correlated with the maxillary length, the anterior position of the maxillary alveolar base, the posterior facial height, and the high angle of the mandible. Conclusion: The subjects who had less severe facial deformities and more tissue volume of the upper lips at cheiloplasty showed better maxillofacial growth. [ABSTRACT FROM AUTHOR]

Objective: This study examined dentoalveolar growth changes prior to the time of palatoplasty up to 3 years of age by the early two-stage Furlow and push-back methods. Subjects: Thirty-tour Japanese patients with complete unilateral cleft lip and palate (UCLP) treated with either a two-stage Furlow procedure (Furlow group: seven boys, eight girls) from 1998 to 2002 or a push-back procedure (push-back group; 12 boys, 7 girls) from 1993 to 1997. Method: Consecutive plaster models were measured by three-dimensional laser scanner, before primary palatoplasty, before hard palate closure (Furlow group only), and at 3 years of age. Bite measures were taken at 3 years of age. Results: In the Furlow group, arch length, canine width, first and second deciduous molar width and cross-sectional area, and depth and volume at midpoint showed greater growth than in the push-back group. In the Furlow group, the crossbite score was also better than in the push-back group at 3 years of age. In comparison with the push-back group, inhibition of growth impediment in the anterior region was observed in the horizontal direction in the Furlow group. In the midregion, It was observed in the horizontal and vertical directions, and In the posterior region it was observed in the horizontal direction. Conclusion: The results demonstrate that the early two-stage Furlow method showed progressive alveolar growth. Therefore, the early two-stage Furlow method Is a more beneficial procedure than the push-back method. [ABSTRACT FROM AUTHOR]

Objective: To describe the morphological changes of nasopharyngeal components after maxillary distraction and clarify whether the morphological characteristics are related to velopharyngeal function (VPF). Design: Perceptual judgments of hypernasality and nasendoscopy were performed before and after treatment. Lateral cephalograms were obtained to describe the morphological changes. Setting: Department of Oral and Maxillofacial Surgery, Miyazaki Medical College, Miyazaki, Japan. Participants: Nine patients with repaired cleft palate in the mixed dentition stage underwent maxillary distraction using a face mask and an intraoral fixed appliance system. Outcome Measures: The severity of hypernasality, velopharyngeal insufficiency, and measurements such as pharyngeal depth, velar length, and the rotation of the palatal plane were evaluated. Results: Increase in pharyngeal depth was not always proportional to the amount of advancement. It depended on the posture of the posterior pharyngeal wall and the rotation of palatal plane. Conclusion: Cephalometric measurements of the nasopharynx before and after surgery confirmed subsequent changes in VPF. These were suggested to be useful in predicting future VPF. When performing maxillary distraction in patients with cleft palate in the mixed dentition stage, and when velopharyngeal closure is found to occur by velar contact against the hypertrophied adenoid, patients should be counseled about risks of subsequent deterioration in their speech before surgery. [ABSTRACT FROM AUTHOR]

To quantify the shape of cleft lip noses and to evaluate the outcome following rhinoplasty objectively, a three-dimensional measuring system for the nasal shape was developed using a contact-type measuring apparatus. In this system, the surface data for a face could be obtained accurately, and facial landmarks could be identified semiautomatically. A new method for evaluating the nasal shape, which regards the nose as a polyhedron constructed of triangles which consist of facial landmarks, has been subsequently devised. Facial plaster models of 129 Japanese volunteers, 61 men and 68 women, were made. The nasal shapes were characterized by linear and angular measurements using semiautomatically identified landmarks, and the new polyhedral system of measurement was applied. The polyhedron was constructed of 10 triangular planes each consisting of three landmarks. The normal vector of each plane was calculated, and the angles described by these normal vectors were calculated. Consequently, the nasal shapes of males and females were characterized as follows: (1) the proportion of the size of the nasal ala to that of the nasal dorsum was larger in males than in females; (2) a more outward projection of the nasal ala was observed in males than in females; (3) the so-called ‘nasal tip angle’ was more acute in males than in females; (4) the transitional area from the nasal dorsum to the face was steeper in females than in males; (5) the upper compartments of the nasal ala were steeper in females than in males.Copyright © 2002 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective: (1) To confirm the reliability of a Japanese version of the Youth Quality of Life Instrument-Facial Differences Module (YQOL-FD); (2) to assess the quality of life (QoL) related to facial difference in Japanese youths with cleft lip and/or palate (CL/P) using this instrument; and (3) to examine the QoL differences according to age, sex, and cleft type., Design: A cross-sectional study., Setting: Japanese youths with CL/P were recruited through our hospital and asked to complete the YQOL-FD., Participants: Sixty-nine Japanese youths (age, 11-18 years) with CL/P., Outcome Measures: The domain scores of stigma, negative consequences, negative self-image, positive consequences, and coping in the YQOL-FD, and the reliability of such scores were evaluated., Results: The instrument showed an acceptable internal consistency (Cronbach α = 0.74-0.92) and test-retest reliability (intraclass correlation coefficient = 0.94-0.98), except for the coping domain. The individual's domain scores were spread out from the lowest score to the high scores among all domains, thus indicating the negative and positive impacts of living with facial differences regarding their QoL may vary among individuals with CL/P. All domain scores in the 15- to 18-year-old group were significantly higher than those in 11- to 14-year-old group; there were no significant differences according to sex or cleft type., Conclusions: The instrument showed acceptable reliability, except for the coping domain. There were individual variations in QoL concerning the facial difference among Japanese youths with CL/P as measured by the YQOL-FD, suggesting the importance of individual evaluations. Perceptions were influenced by age, but not sex or cleft type.

Our principle in cleft lip and cleft palate repair is all-round personal treatment. That is, treatment concentrates not only on cleft lip and cleft palate repair, but also considers the patient comprehensively in terms of his or her personality. In this report, we present patients with cleft lips and/or cleft palates for whom we performed surgical treatments in the past 25 years. We performed primary operations for 402 patients and secondary operations for 120. Cleft lip and cleft palate should be managed with consideration for otolaryngeal aspects as well as plastic surgical ones because of the nature of the disease. We therefore treated our patients from the standpoints of both medical fields, and gained much appreciation from parents whose children suffered from the congenital anomaly. [ABSTRACT FROM AUTHOR]

Objective: This study examined psychological status trajectories of mothers of infants with nonsyndromic orofacial clefts in Japan., Design: Prospective cohort study., Setting: Data from the Japan Environment and Children's Study., Participants: Infants with a nonsyndromic cleft (N = 148) including cleft lip and palate (CLP; n = 72), cleft lip (CL; n = 46), and cleft palate (CP; n = 30). The control group included unaffected infants (N = 84 454)., Main Outcome Measures: At 15 weeks and 27 weeks of pregnancy and 12 months after birth, the Kessler Psychological Distress Scale (clinical cutoff ≥5) was used. At 1 month and 6 months after birth, the Edinburgh Postnatal Depression Scale (clinical cutoff ≥9) was used., Results: Prenatal diagnosis rates were unavailable. Mothers of infants with CLP had higher psychological distress than controls at 27 weeks of pregnancy (prevalence ratio [PR] = 1.36, 95% CI: 1.06-1.74) and postnatal depression at 1 month after birth (PR = 2.21, 95% CI: 1.53-3.19). Mothers of infants with CP showed heightened psychological distress at 27 weeks of pregnancy (PR = 1.62, 95% CI: 1.21-2.17) and postnatal depression 6 months after birth (PR = 1.86, 95% CI: 1.01-3.43). There was no significant association between CL and maternal psychological status. At 12 months after birth, no differences in distress were found between mothers of infants with a cleft and controls., Conclusions: Mothers of infants with orofacial clefts may need psychosocial support, particularly during pregnancy and the first year after birth.

Objectives/hypothesis: Individuals with orofacial clefts often experience respiratory problems because of nasopharyngeal abnormalities. Pharyngeal airway morphology is thought to differ among the various cleft types. We measured three-dimensional (3D) airway volume using cone-beam computed tomography (CBCT) analysis to evaluate and compare pharyngeal airways in Japanese preschoolers with and without orofacial clefts., Study Design: Retrospective case-control study., Methods: We enrolled 83 subjects (37 boys, 46 girls; mean age = 4.66 ± 0.56 years) with nonsyndromic orofacial clefts and 16 noncleft healthy subjects (seven boys, nine girls; mean age = 5.30 ± 0.52 years) as controls. The subjects were divided into five groups. Four groups were based on the cleft type: isolated cleft palate, unilateral cleft lip and alveolus), unilateral cleft lip and palate, and bilateral cleft lip and palate. The fifth group included the noncleft controls. All subjects were examined with CBCT, and the 3D airway volume was measured. We analyzed group differences statistically using analysis of covariance with the Bonferroni post hoc pairwise comparison tests for the corrected means., Results: Compared with the noncleft group, each cleft group exhibited significantly decreased total and nasal airway volumes and increased superior and inferior pharyngeal airway volumes. The differences were all statistically significant., Conclusions: Our findings suggest that anatomical differences exist in pharyngeal airway volumes among various cleft groups and in those without a cleft., Level of Evidence: 3b Laryngoscope, 130:533-540, 2020., (© 2019 The American Laryngological, Rhinological and Otological Society, Inc.)

Objective: The pathogenesis of nonsyndromic cleft lip with or without cleft palate (NSCL ± P) and nonsyndromic cleft palate only (NSCP) may be associated with genetic factors. Although some predisposing genes/loci have been reported, their attributable risk is too small to be clinically meaningful. To clarify the genetic causes and mechanisms of NSCL±P or NSCP, we conducted mutation analysis of target genes using a next-generation sequencing (NGS) approach., Methods: The target genes, IRF6, WNT5A, WNT9B, TP63, MSX1, TFAP2A, PAX9, DLX3, DLX4, and MN1, were selected based on previous reports of potential associations with the development of NSCL±P or NSCP from genome-wide association studies and candidate gene analyses. Mutation analysis was conducted using NGS on 74 Japanese trios (patient and parents) and 18 Japanese patients only families., Results: We detected single-nucleotide variants (SNVs) for 7 genes: IRF6, DLX4, WNT5A, TFAP2A, WNT9B, TP63, and PAX9. The SNVs found on IRF6 and DLX4 were missense mutations, whereas those identified on WNT5A, TFAP2A, WNT9B, TP63, and PAX9 were rare variants in the noncoding region; no de novo mutation was identified in the trio samples. The amino acid change on DLX4 was detected within the highly conserved homeodomain and was predicted to have a deleterious impact on the protein function by in silico analysis., Conclusions: The DLX4 missense mutation c.359C>T (Pro120Leu) was found in 1 Japanese patient with NSCL±P and was located in the homeodomain region. This mutation likely plays a role in the development of NSCL±P in the Japanese population.