Cleft Type Research Articles

Influence of the Number of Revision Surgeries and Nasal Symmetry After Final Rhinoplasty for Patients With Cleft Lip.

The effects of operative intervention on vertical nasal growth in patients with unilateral cleft lips (CLs) are well described. However, the factors influencing nasal symmetry have not been sufficiently evaluated. Therefore, this study aimed to study the factors that cause difficulties in obtaining nasal symmetry postoperatively in patients with CLs. We conducted a retrospective analysis using data from patients with CLs who underwent a series of treatments at Keio University Hospital from 1990 to 2000. We collected data on the patients' sex, cleft type, number and time of revision surgery, palatal fistula incidence, and history of the pharyngeal flap and orthognathic surgery. Nasal symmetry was analyzed as the symmetrical ratio after the final touch-up surgery, and multivariate analysis was conducted using binary logistic regression to determine the factors affecting nasal symmetry. This study included 89 patients with unilateral CL. Multivariate analysis revealed that complete cleft lip and palate ( P < 0.05, odds ratio = 4.37) and repeated revision surgery ( P < 0.05, odds ratio = 9.28) were significant predictors of the final nasal symmetry. Our study showed that cleft type and the number of revision surgeries were identified as important factors for obtaining nasal symmetry after final touch-up rhinoplasty. Revision surgery may be necessary to relieve patients' psychological stress due to nasal deformity, suggesting that this dilemma needs to be overcome.

Risk Assessment of Sleep Disordered Breathing in Cleft Lip and/or Palate.

Children with cleft lip and/or palate (CL/P) are at increased risk for Sleep Disordered Breathing (SDB), particularly Obstructive Sleep Apnea (OSA). At our institution, routine screening for SDB is performed using the Chevrin Pediatric Sleep Questionnaire (PSQ). This analysis is a practice audit looking at the outcomes of screening children with CL/P. A single-center, retrospective analysis was done of all non-syndromic patients with CL/P over the age of 36 months over a 4-year period. Children with known OSA were eliminated from analysis. Univariate logistic regression was used to assess predictors for SDB (PSQ score > 8) amongst various patient, disease, and treatment characteristics. Outcomes of those screened were tracked. Of the 239 patients in the study cohort, 43 (18%) had positive PSQs. These subjects were more likely to have class III dental occlusion with maxillary retrusion (OR = 2.65, 95% CI: 1.2-5.8, p = 0.02). There were no differences amongst age, type of cleft, Veau classification, BMI, or history of pharyngeal surgery. One third of the group did not complete recommended testing. Twenty-five subjects with positive sleep screening underwent subsequent polysomnography and 21 (84%) had OSA. Routine screening reveals a significant proportion of patients with CL/P with symptoms suggestive of OSA. While several patients did not complete confirmatory testing, those who completed a PSG had a high rate of identification of OSA. After excluding children with known OSA, patients with SDB are also likely to have class III dental occlusion and maxillary retrusion.

CLEFT RR- New app to Calculate Recurrence Risk in Cleft lip and Palate.

To describe the Cleft Recurrence Risk (Cleft RR) App, designed to be used on genetic counseling for cleft lip and/ or palate. A validation study, single cohort. Tertiary care children's Hospital. The manual obtained the results of 100 cases undergoing genetic counseling at the cleft lip and palate treatment center. The application for genetic counseling for cleft lip and/ or palate is designed to calculate quickly the recurrence risk considering the ancestry, cleft type, sex, and family history and thus encourage the implementation of genetic counseling in cleft lip and palate centers around the world. The data were submitted to the Bland-Altman statistics. After defining parameters the application development follows the steps: development, prototyping, and documentation. The validation of the calculated data was performed by comparing the results of 100 cases undergoing genetic counseling at the cleft lip and palate treatment center obtained by the manual method with the results obtained by the mobile app method; the data were submitted to the Bland-Altman statistics and a high concordance was found. The mobile app for use by healthcare professionals proved to be simple to use, easy to apply, and provided accurate results. Cleft Recurrence Risk is an application for smartphones developed for genetic counseling in cleft lip and palate, supplementary use by health professionals, and should not replace professional performance.

Epidemiological and clinical evaluation of patients with a cleft in lower saxony Germany: a mono-center analysis.

The aim was to provide epidemiological and clinical data on patients with orofacial clefts in Lower Saxony in Germany. The records of 404 patients with orofacial clefts treated surgically at the University Medical Center Goettingen from 2001 to 2019 were analyzed in this retrospective study. Prevalence of orofacial clefts in general, orofacial clefts as manifestation of a syndrome, sex distribution, and prevalence of different cleft types was evaluated and associated with the need for corrective surgery, family history, pregnancy complications, and comorbidities. The prevalence of orofacial clefts for Goettingen in Lower Saxony was 1:890. 231 patients were male and 173 were female. CLP was most common (39.1%) followed by CP (34.7%), CL (14.4%), CLA (9.9%), and facial clefts (2%). The left side was more frequently affected and unilateral cleft forms occurred more often than bilateral ones. Almost 10% of the population displayed syndromic CL/P. 10.9% of all patients had a positive family history regarding CL/P, predominantly from the maternal side. Pregnancy abnormalities were found in 11.4%, most often in the form of preterm birth. Comorbidities, especially of the cardiovascular system, were found in 30.2% of the sample. 2.2% of patients treated according to the University Medical Center Goettingen protocol corrective surgery was performed in form of a velopharyngoplasty or residual hole closure. The epidemiological and clinical profile of the study population resembled the expected distributions in Western populations. The large number of syndromic CL/P and associated comorbidities supports the need for specialized cleft centers and interdisciplinary cleft care.

Development of postoperative velopharyngeal function in patients with cleft palate.

Patients with a cleft palate often experience a velopharyngeal dysfunction known as velopharyngeal insufficiency (VPI). The purpose of this study was to examine the development of velopharyngeal function (VPF) following primary palatoplasty and the factors that are linked to it. A retrospective study was conducted to examine the medical records of patients who had cleft palate, with or without cleft lip (CP±L) and underwent palatoplasty at a Tertiary Affiliated Hospital between 2004 and 2017. Postoperative evaluation of VPF was conducted at two follow-up times (T1, T2) and was classified as either normal VPF, mild VPI, or moderate/severe VPI. The consistency of VPF evaluations between the two time points was then assessed, and patients were categorized into either the consistent or inconsistent group. The study collected and analyzed data on gender, cleft type, age at operation, follow-up duration, and speech records. The study included 188 patients with CP±L. Out of these, 138 patients (73.4%) showed consistent VPF evaluations, while 50 patients (26.6%) showed inconsistent VPF evaluations. Among those with VPI at T1 (91 patients), 36 patients (39.6%) had normal VPF at T2. The rate of VPI decreased from 48.40% at T1 to 27.13% at T2, whereas the rate of normal VPF increased from 44.68% at T1 to 68.09% at T2. The consistent group had a significantly younger age at operation (2.90±3.82 vs 3.68±4.02), a longer duration of T1 (1.67±0.97 vs 1.04±0.59), and a lower comprehensive score of speech performance (1.86±1.27 vs 2.60±1.07) than the inconsistent group. It has been verified that there are changes in the development of VPF over time. Patients who underwent palatoplasty at a younger age were more likely to have confirmed VPF diagnosis at the first evaluation. The duration of follow-up was identified as a critical factor that affects the confirmation of VPF diagnosis.

Classification of Skeletal Phenotypes of Adult Patients With Cleft Skeletal Class III Malocclusion Using Principal Component Analysis and Cluster Analysis.

The purpose of this study was to classify the skeletal phenotypes of adult patients with skeletal class III (C-III) malocclusion and unilateral or bilateral cleft lip and palate using principal component analysis and cluster analysis. The samples consisted of 81 adult C-III patients with cleft lip and palate (CLP) who underwent orthognathic surgery (OGS) or distraction osteogenesis (59 males and 22 females; 50 unilateral cleft lip and palate and 31 bilateral cleft lip and palate; mean age when lateral cephalograms were taken, 22.2±4.6y). Thirteen angular and one ratio cephalometric variables were measured. Using 4 representative variables obtained from principal component analysis (SNA, SNB, Gonial angle, and Bjork sum), K-means cluster analysis was performed to classify the phenotypes. Then, statistical analysis was conducted to characterize the differences in the variables among the clusters. Five clusters were obtained from 3 groups: severely retrusive maxilla and moderately retrusive mandible group: cluster-1 (23.5%, severely hyperdivergent pattern), cluster-4 (27.2%, moderately hyperdivergent pattern), and cluster-5 (11.1%, normodivergent pattern); moderately retrusive maxilla and normal mandible group: cluster-2 (30.9%, normodivergent pattern); normal maxilla and moderately protrusive mandible group: cluster-3 (7.4%, normodivergent pattern). Although skeletal phenotypes were diverse, distribution of sex and cleft type did not differ among 5 clusters ( P >0.05). Sixty-two percent of cleft patients showed a severely retrusive maxilla and moderately retrusive mandible (cluster-1, cluster-4, and cluster-5), which indicated that these are the main cause of skeletal C-III malocclusion in CLP patients who were treated with OGS. Therefore, it is necessary to consider presurgical orthodontic treatment and surgical planning based on the skeletal phenotypes of CLP patients.

Long-Term Nasolabial Appearance Post-Unilateral Cleft Lip Repair in a Single Center: A Descriptive Study.

Introduction Modern treatments still aim to keep the impact of surgical intervention low and the outcome of surgeries as good as a surgeon can. Assessing the long-term nasolabial appearance of patients who underwent cleft lip (CL) repair surgery is one of the methods of evaluating the outcomes of cleft surgery. Methods This is a retrospective cross-sectional descriptive study of data records of unilateral CL patients. The data records of all patients who underwent unilateral CL repair by the reconstructive science unit at Hospital Universiti Sains Malaysia (HUSM) within the first two years of their lives and whose current age is 14 years or above were accessed and analyzed. Results The data records of 50 patients were analyzed, including 13 (26%)males and 37 (74%) females. The surgeons opined that 28% of the patients had an acceptable nasolabial appearance, while there were 10 (20%)patients whose nasolabial appearance was considered unacceptable by the reviewing surgeons. Fifteen (30%)patients were described as having an acceptable lip appearance with secondary nasal deformity, and 11 (22%)patients had an acceptable nasal appearance with secondary lip deformity. There were no surgical modifications or postoperative complications among the patients. None of our variables reported a significant association with long-term nasolabial appearance. Conclusion The long-term evaluation of the nasolabial appearance in individuals with CL following surgical correction significantly improves the service and care provided to patients to achieve optimum results. Although our results showed no relationship between gender, age at operation, type or diagnosis of cleft, and family history and long-term nasolabial appearance, frequent assessments will enhance surgical results.

Clinical profiles of individuals with orofacial clefts: Results from fourteen Eastern African countries.

BackgroundMore than 100,000 cleft lip and palate patients have benefited from reconstructive surgeries in Africa because of surgical support from non-governmental organizations such as Smile Train. The Smile Train Express is the largest cleft-centered patient registry with over a million records of clinical records, globally. In this study, we reviewed data from the Eastern African patient registry to analyze and understand the clinical profiles of cleft lip and palate patients operated at Smile Train partner hospitals in East Africa. MethodA cross-sectional study design was undertaken through a retrospective database review in fourteen Eastern African countries. The study population included all patients who had cleft lip and palate surgeries recorded in the Smile Train database between 2001 and 2019. Findings86,683 patient records from 14 Eastern African countries were included in this study. The mean age was (8.8), the mean weight was 22.3 kg and 20.8 kg for males and females, respectively, and 61.9% of the surgeries were performed on male patients. Left cleft lip and palate (21,062, 24.62%) and left cleft lip only (17,155, 20.05%) were the most common types of clefts, with bilateral cleft lip only (3958, 4.63%) being the least frequent. complete left cleft lip with complete left alveolus was the most frequent cleft combination observed (n = 21,746) and Cleft lip to cleft lip and palate to cleft palate ratio (CL:CLP: CP) was 4.73:7.1:1. Unilateral primary lip-nose repairs were the most common surgeries (66%). General anesthesia was used for 74,783 (86.2%) of the procedures. InterpretationMost children with cleft lip and/or palate were underweight, possibly due to malnutrition or related to socioeconomic status. There were more male patients compared to females, which could be related to gender disparities. Access to surgical care for children born with congenital defects needs to be improved, and inequities need to be addressed via more evidence-based collaborative intervention strategies. FundingNone

Relation between Maximum Oral Muscle Pressure and Dentoalveolar Characteristics in Patients with Cleft Lip and/or Palate: A Prospective Comparative Study.

Perioral muscle function, which influences maxillofacial growth and tooth position, can be affected in patients with oral clefts due to their inherent anatomical characteristics and the multiple surgical corrections performed. This research aims to (1) compare the maximum oral muscle pressure of subjects with and without isolated cleft palate (CP) or unilateral cleft lip and palate (UCLP), (2) investigate its influence on their dentoalveolar characteristics, and (3) investigate the influence of functional habits on the maximum oral muscle pressure in patients with and without cleft. Subjects with and without CP and UCLP seeking treatment at the Department of Orthodontics of University Hospitals Leuven between January 2021 and August 2022 were invited to participate. The Iowa Oral Performance Instrument (IOPI) was used to measure their maximum tongue, lip, and cheek pressure. An imbalance score was calculated to express the relationship between tongue and lip pressure. Upper and lower intercanine (ICD) and intermolar distance (IMD) were measured on 3D digital dental casts, and the presence of functional habits was reported by the patients. The data were analyzed with multivariable linear models, correcting for age and gender. 44 subjects with CP or UCLP (mean age: 12.00 years) and 104 non-affected patients (mean age: 11.13 years) were included. No significant differences in maximum oral muscle pressure or imbalance score were detected between controls and clefts or between cleft types. Significantly smaller upper ICDs and larger upper and lower IMDs were found in patients with clefts. A significant difference between controls and clefts was found in the relationship between oral muscle pressure and transversal jaw width. In cleft patients, the higher the maximum tongue pressure, the wider the upper and lower IMD, the higher the lip pressure, the smaller the upper and lower ICD and IMD, and the higher the imbalance score, the larger the upper and lower IMD and lower ICD. An imbalance favoring the tongue was found in cleft patients. The influence of functional habits on the maximum oral muscle pressure was not statistically different between clefts and controls. Patients with CP or UCLP did not present reduced maximum oral muscle pressure compared with patients without a cleft. In cleft patients, tongue pressure was consistently greater than lip pressure, and those who presented a larger maxillary width presented systematically higher imbalance scores (favoring the tongue) than those with narrow maxillae. Therefore, the influence of slow maxillary expansion on maximum oral muscle pressure in cleft patients should not be underestimated.

Surgical correction of Tessier cleft no. 7: A single center 18-year experience

Tessier cleft 7 are rare craniofacial clefts. Live-birth incidence varies from 1/80,000 to 1/300,000, with the incidence of 1 in 120 craniofacial clefts among Asians. Its clinical presentation varies widely in severity, thus, complicating diagnosis and contributing to the lack of consensus regarding its surgical management. The aim of this study is to describe clinical findings, types of Tessier cleft 7 soft tissue repair, and its outcomes in Kuala Lumpur Hospital. This retrospective study reviewed records of children operated from January 2001 to July 2019. Data regarding concurrent congenital anomalies, complications, type of surgery, etc., were collected from outpatient records, operative notes, and clinical photographs. Twenty-eight children were treated, and 33 clefts (5 bilateral) were repaired. The male-to-female ratio was 1.3:1 (16 males and 12 females). Twenty-three patients had unilateral clefts (82.14%), with 14 right (60.86%) and 8 left (34.78%). Bilateral clefts were less common (17.86%). Twenty-three patients (82.14%) were Malay, 3 (10.71%) Chinese, 1 (3.57%) Indian, and 1 (3.57%) Cambodian. Eleven medical records were untraceable (discontinued due to duration of inactivity). There were 10 straight-line repairs, 5 Z-plasties, and 1W-plasty performed; 3 cases did not detail the type of repair. One child required scar revision, and 1 had hypertrophic scarring requiring corticosteroid injection-no disturbances in speech or oral incompetency while eating were reported. Duration of follow-up ranged from 3 to 14 years. Our center has a higher rate of Tessier cleft 7 attendance. Straight-line cutaneous repairs combined with inferior vermilion mucosal flap can be used with low rates of complication and revision surgery.

Social Determinants of Health in Early Otologic and Audiologic Evaluation in an Interdisciplinary Cleft-Craniofacial Clinic.

Investigate associations between socioeconomic indicators of healthcare access with family compliance with cleft-related otologic and audiologic care within an interdisciplinary model. Retrospective case series. Children born 2005-2015 who presented to the Cleft-Craniofacial Clinic (CCC) at a quaternary care children's hospital. Associations between main outcome measures and Area Deprivation Index (ADI), median household income for zip code, distance from hospital, and insurance status were evaluated. Cleft types, ages at presentation to outpatient clinic (cleft, otolaryngology, and audiology), and ages at procedures (first tympanostomy tube insertion (TTI), lip repair, and palatoplasty) were measured. Most patients were male (147/230, 64%) with cleft lip and palate (157/230, 68%). Median age at first cleft, otolaryngology, and audiology visits were 7 days, 86 days, and 5.9 months, respectively. Private insurance predicted lower no-show rates (p = .04). Age at first CCC visit was younger for patients with private insurance (p = .04) and older for those who lived further from the hospital (p = .002). Age at lip repair was positively correlated with national ADI (p = .03). However, no socioeconomic status (SES) proxy or proximity to hospital was associated with delays in first otolaryngology or audiology examination or TTI. Once children become established within an interdisciplinary CCC, SES appears to bear little influence on cleft-related otologic and audiologic care. Future efforts should aim to elucidate which aspects of the interdisciplinary model maximize multisystem cleft care coordination and increase access for higher risk populations.

Effects of Nasoalveolar Molding on Maxillary Arch Dimensions and Malocclusion Characteristics of Deciduous Dentition Patients with Cleft Lip and Palate.

To evaluate the effects of nasoalveolar molding (NAM) therapy on maxillary arch dimensions and malocclusion characteristics in patients with unilateral (UCLP) and bilateral cleft lip and palate (BCLP). Patients in deciduous dentition were referred to the institutional department of orthodontics. The NAM group consisted of 21 patients with UCLP (mean age 4.7±0.7 years) and 12 patients with BCLP (mean age 4.8±0.7 years). Sixteen patients with UCLP (mean age 4.9±0.9 years) and 5 patients with BCLP (mean age 5.4±1.1 years) were included in the non-NAM group. The plaster models of all patients were digitized. Dental arch dimensions and malocclusion characteristics were analyzed via digital software. One-way ANOVA with Bonferroni correction was used for statistical analysis. Intercanine and intermolar widths showed statistically significant differences according to the cleft type (P<.01). There was no statistically significant effect of NAM therapy on maxillary arch parameters and malocclusion characteristics (P>.05). The prevalence of anterior crossbite was 12.1% in the NAM group, and 23.8% in the non-NAM group. NAM therapy did not affect the maxillary arch dimensions and malocclusion characteristics in patients with UCLP and BCLP. The cleft type was the main factor, leading to a significant difference in maxillary widths.

Cleft palate surgical perspectives: A pilot study

ABSTRACT Purpose: The current pilot study aimed to collect craniofacial surgeon’s personal perspectives regarding the timing of cleft palate surgical repair, medical considerations for surgical repair (i.e., age, weight, type of cleft, and potential for surgical complications), and social considerations (i.e., speech–language development, socioeconomic status, and familial support). Materials and Methods: Fifteen plastic surgeons currently practicing cleft palate repair participated in this study. Surveys were distributed electronically to team coordinators of the American Cleft Palate-Craniofacial Association-accredited craniofacial teams and included a combination of Likert scales, closed multiple-choice questions, and open-ended qualitative questions for free-text responses. Results: Preliminary data obtained in this study suggest that the most common age range for palate repair in nonmedically complex infants is 10–11 months of age (n = 10). Notably, 20% of respondents (n = 3) reported a typical surgical repair time of 7–9 months of age. While medical and social priorities differed, all surgeons rated speech–language development as an important factor when determining the timing of surgical intervention. Conclusion: Given the limited consensus on surgical timing and intervention for children with cleft palate, further research is needed to determine the optimal timing of palate repair that considers both medical safety and near age-appropriate speech sound acquisition and production.

Variant Analysis of FOXE1 Gene in Non-Syndromic Cleft Lip and Palate Patients of Peshawar, Pakistan

One of the most common structural birth defects is the cleft lip and palate, having an incidence rate of 1:700 live births worldwide. It can be isolated cleft lip, isolated cleft palate or a combination of both cleft lip and palate. The orofacial cleft can be caused by a variety of genetic and environmental factors or through an interaction between these factors. The gene Fork-head Box protein E1 (FOXE1) has been documented to be involved with cleft lip and palate. The present study aims to screen mutations in FOXE1 and to correlate phenotype and genotype of affected individuals. After obtaining ethical approval, peripheral blood samples were collected from 100 affected individuals, irrespective of age and gender. The genomic DNA was extracted, followed by quality control through spectrophotometer and gel electrophoresis. Polymerase chain reaction (PCR) was carried out to perform the targeted Sanger sequencing of FOXE1 gene. A point mutation (c.274C&gt;T, rs3021526) in FOXE1 gene was detected in 15 samples. Based on phenotype, males and isolated cleft palate type was commonly involved,with bilateral occurrence, and moderate cases were frequently seen among the enrolled patients. In this study, a missense substitution was observed in gene FOXE1. This study provides a foundation for genetic counseling for families at risk and offer valuable insights for prevention and management plans.

Global perspectives in orofacial cleft management and research.

Orofacial clefts (OFCs) refer to clefts of the lip and palate, a heterogeneous group of relatively common congenital conditions that can cause mortality and significant disability if untreated, and residual morbidity even when treated with multidisciplinary care. Contemporary challenges in the field include: lack of awareness of OFCs in remote, rural and impoverished populations; uncertainties due to lack of surveillance and data gathering infrastructure; inequitable access to care in some parts of the world; and lack of political will combined with lack of capacity to prioritise research.OFCs present clinically as either syndromic or non-syndromic, with the latter either being isolated or in conjunction with other malformations; however, many registries still do not differentiate between these fundamentally different entities and lump a spectrum of cleft types and sub-phenotypes together. This has implications for treatment, research and ultimately, quality improvement.This paper deals with the challenges in contemporary management in terms of care and the prospects and possibilities for primary prevention of non-syndromic clefts. In terms of management and optimal care, there are also challenges in the provision of multi-disciplinary treatment and management of the consequences of being born with OFCs, such as dental caries, malocclusion and psychosocial adjustment.

Psychosocial Outcomes in Children with Cleft Lip and/or Palate: Associations of Demographic, Cleft Morphologic, and Treatment-Related Variables.

To determine associations of demographic, morphologic, and treatment protocol parameters with quality of life (QoL), appearance/speech satisfaction, and psychological adjustment. Observational study utilizing retrospective report of protocol variables and current outcome variables. Six North American cleft treatment clinics. Children, ages 8.0-10.99 years, with Cleft Lip ± Alveolus, Cleft Palate, Cleft Lip and Palate, and parents (N = 284). Pediatric QoL Inventory (PedsQL): Parent, Child, Family Impact Module (FIM); Patient Reported Outcome Measurement Information System (PROMIS); Child Behavior Checklist (CBCL); CLEFT-Q. Outcome scores were average with few differences by cleft type. Multiple regression analyses yielded significant associations (Ps < .05) between socioeconomic status, race, and age at assessment and parent- and self-reported measures. Females had higher PROMIS Depression (β=.20) but lower CBCL Affective (β = -.16) and PROMIS Stigma scores (β= -.24). Incomplete cleft lip was associated with lower PROMIS Depression, and more positive ratings of CLEFT-Q: Nose, Nostril, Lip Scar; CBCL Competence scores, (βs = -.17 to .17). Younger Age at Lip Closure was associated with higher CBCL School Competence (β= -.18). Younger Age at Palate Closure was associated with higher Child PedsQL Total, Physical, Psychosocial QoL, and better CLEFT-Q Speech Function (βs = -.18 to -.15). Furlow Palatoplasty was associated with more CBCL Externalizing Problems (β = .17) higher CBCL Activities (β = .16). For all diagnoses, fewer Total Cleft-Related Surgeries was associated with lower PROMIS Stigma and higher CBCL Total Competence and Activities (βs = -.16 to .15). Demographic characteristics, lip morphology, and treatment variables are related to later psychological functioning.

Accuracy of prenatal detection of facial clefts and relation between facial clefts, additional malformations and chromosomal abnormalities: a large referral-center cohort

PurposeFacial clefts belong to the most common congenital malformations and their prenatal diagnosis is a constant challenge. The aim of this study was to determine the accuracy of prenatal ultrasound in correctly classifying facial clefts. Furthermore, we aimed to specify the distribution of the type of clefts and underlying genetic conditions.MethodsAll fetuses seen with suspected facial cleft in the Department of Obstetrics, Charité – Universitätsmedizin Berlin during a period of 23 years (1999–2022) were included in this retrospective study. Clefts were classified according to the classification of Nyberg. All additional prenatal findings were assessed and correlated with the outcome. The accuracy of prenatal diagnosis was assessed.Results292 patients were included in the study. The most common type of clefts were unilateral cleft lip and palate (CL-P) (53.6%) and bilateral CL-P (30.6%), followed by CL (8.1%), CP (5.1%) and median CL-P (2.6%). The overall pre- and postnatal concordance rate corresponding to a correct prenatal diagnosis was high, 88.9%, ranging from 73.7% (CL) to 93.7% (unilateral CL-P). Most of the median clefts (95.2%) and CP (93.3%) were associated with other sonographic abnormalities, as well as 52.2% of bilateral CL-P. Chromosomal abnormalities, mostly trisomy 13 and trisomy 18, were observed in in the median CL-P (47.6%), bilateral CL-P (31.1%) and CP (26.7%) groups, in contrast to the CL (9.1%) and unilateral CL-P (12.9%) groups. It was exceptional to have a chromosomal abnormality without additional malformations (4.8%). The mortality rate including one late miscarriage, 5 IUFD’s, 74 TOPs and 6 palliative cares at birth was 29.8%, particularly high for median clefts (90.5%).ConclusionPrenatal ultrasound exhibited a high accuracy to assess the type of facial clefts with an average rate of 88.9% (73.7%–93.7%) and a concordance rate of up to 93.7%, depending on the type of cleft. The search for additional malformations as well as clarifying underlying genetic conditions is essential. This allows for a targeted counseling of the parents and to best prepare for postnatal care, including surgery by the maxillofacial team.

Variation of Tooth Crown Size in Cleft Lip and Palate Patients.

This study aims to compare the mesiodistal (MD) and buccolingual (BL) tooth crown size (TCS) of adult patients with cleft lip and palate (CL/P) and patients without CL/P. The sample of this study consisted of 146 adult patients, of both genders, of which 73 were included in the case group (with CL/P) and 73 were included in the control group (without CL/P). Data regarding gender and age and cleft type were collected. In addition, dental models were evaluated to obtain the TCS in the maximum distance of the MD and BL dimensions of all erupted permanent teeth (except third molars). The results were submitted to statistical analysis with a significance level of 0.05. In the upper arch, the central incisors (CI) were smaller in the case group for the MD and BL dimensions (p < 0.05). The lateral incisors (LI) and canine (C) were smaller only in the BL width (p < 0.05) and the second molars (SM), were smaller only in the MD dimensions. In the lower arch, there were significant differences only in the BL width between groups, the CI and LI presented smaller measurements in CL/P patients, while the left first molar (FM) and right first premolar (FPM) were larger (p < 0.05) than in patients without CL/P. Patients with CL/P have different sizes in certain teeth compared to patients without CL/P. Cleft lip and palate patients usually present important dental anomalies; thereby, the knowledge about trends in tooth size variations in CL/P patients can aid in dental and orthodontic treatment planning to obtain a stable, functional, and esthetic occlusion.

Craniofacial Cephalometric Morphology in Caucasian Adult Patients with Cleft Palate Only (CPO).

Orofacial clefts are common birth defects that affect the morphology of the skull. Cleft palate only (CPO) has a different etiology than other types of clefts, and craniofacial morphology in CPO differs from that of UCLP and BCLP. The long-term effect of the cleft and its surgery is visible after growth cessation. However, few studies exist describing cephalometric craniofacial morphology in adults with CPO. The aim of the present study was to describe the cephalometric craniofacial morphology of adult patients with CPO compared to healthy patients. The study included analysis of cephalometric lateral headfilms of 28 adults with CPO and 28 healthy subjects. It was found that the angles of SNA, ANB, 1-:NB angle (°) and Wits appraisal were significantly smaller in CPO, whereas NL-NSL (°), 1+:NA angle (°) and 1+:NA (mm) had significantly higher values in CPO compared to the control group. It has been concluded that CPO in adult patients is characterized by a sagittal jaw discrepancy due to maxillary deficiency, with a tendency for compensatory inclination of the upper and lower incisors.

Dental Anomalies and Genetic Polymorphisms as Predictors of Maxillofacial Growth in Individuals Born with Cleft Lip and Palate

Cleft lip and palate have a complex inheritance, and 90% of its variation in the population is due to genetic contributors. The impact of surgical procedures on maxillofacial growth is well known, but the interference of intrinsic factors in these growth outcomes is not elucidated. The present study aimed to analyze genetic polymorphisms and frequency of dental anomalies as predictors of maxillofacial growth in patients born with cleft lip with or without cleft palate. From a cohort of 537 individuals, operated on by the same surgeon, 121 were analyzed 2 times, to define changes in maxillary growth prognosis by occlusal scores in a minimum 4-y follow-up. In a second step, a subset of 360 individuals had maxillofacial growth outcomes evaluated using Wits, nasion perpendicular to point A, and occlusal scores. The markers MMP2 rs9923304, GLI2 rs3738880 and rs2279741, TGFA rs2166975, and FGFR2 rs11200014 and rs10736303 were genotyped, and frequency of dental anomalies and cleft severity were determined to define evidence of overrepresentation of alleles associated with maxillofacial growth outcomes. Age and age at primary surgical treatment, sex, and cleft laterality were variables adjusted in the analysis. We found an association between the frequency of dental anomalies and the maxillofacial growth in unilateral (P = 0.001) and bilateral (P = 0.03) individuals with clefts. MMP2 rs9923304 and maxillofacial growth were associated (P < 0.0001). There was also an association between GLI2 rs3738880 and TGFA rs2166975 and maxillary outcomes in individuals born with unilateral cleft lip and palate (P = 0.003 and P = 0.004, respectively), as well as between FGFR2 rs11200014 and maxillary outcomes regardless of cleft type (P = 0.005). Statistical evidence of an interaction between MMP2 rs9923304 and GLI2 rs3738880 was observed (P < 0.0001). Presence of dental anomalies and genetic variation in MMP2, GLI2, TGFA, and FGFR2 were associated with worse maxillofacial growth outcomes in individuals born with clefts.