Permanent tooth agenesis in non-syndromic Robin sequence and cleft palate: prevalence and patterns

Objectives: Partial tooth agenesis is frequently observed in Robin sequence. Tooth anomalies are increasingly considered as an extended phenotype of the cleft palate population. The study objective was to compare the prevalence and patterns of tooth agenesis in a group of patients with non-syndromic Robin sequence (ns-RS) and a group with non-syndromic cleft palate (ns-CP). Materials and methods: The panoramic radiographs of 115 ns-RS and 191 ns-CP patients were assessed for agenesis of the permanent dentition (excluding third molars) and the patterns recorded using the Tooth Agenesis Code. Results: Partial tooth agenesis was observed in 47.8% of ns-RS and 29.8% of ns-CP patients with a greater prevalence in the mandibula than in the maxilla, particularly in ns-RS. The teeth most frequently absent in both groups were the mandibular second premolars and maxillary lateral incisors. Tooth agenesis was bilateral in two-thirds of affected ns-RS patients and one-half of ns-CP patients. In ns-RS, bilateral agenesis of the mandibular second premolars was more frequently observed in female than that in male patients. Completely symmetrical patterns of hypodontia were found in around 45% of ns-RS patients with tooth agenesis compared to 35% in ns-CP. No association was found between the extent of the palatal cleft and the severity of hypodontia. Conclusion: Tooth agenesis is more prevalent in ns-RS than that in ns-CP, demonstrates a much greater predilection for the mandible in ns-RS, and bears no relation to the extent of the palatal cleft. Clinical relevance: When compared to ns-CP, additional developmental disturbances are likely involved in the etiology of tooth agenesis in ns-RS. Future research could help identify the underlying genetic traits and aid in classifying patients in those with and without expected tooth agenesis in order to facilitate orthodontic management strategies

The Submental Nasal Appearance Scale for the Assessment of Repaired Unilateral Complete Cleft Lip: A Validation Study

Objective: To reassess reliability and validity of the Submental Nasal Appearance Scale (SNAS) compared to the preliminary pilot study, for assessment of patient photographs with repaired unilateral cleft lip and palate (UCLP). When utilizing the SNAS, 3 nasal features (1. nasal outline; 2. alar base position; 3. nostril axis) must be graded according to symmetry between the cleft and noncleft side using a 5-point scale with reference photographs for each feature. The mean score calculated from the graded features reflects the overall degree of nasal symmetry, which is considered an important goal when repairing UCLP. Design: Fifty patient photographs were selected and cropped, displaying the submental view. Six raters assessed these photographs using the SNAS and a separate 5-point scale to assess the overall submental appearance. Interrater reliability was determined for both methods and correlation was calculated between these as an indication of construct validity. Setting: Amsterdam UMC, location VUmc, Amsterdam, The Netherlands. Patients: Six- to 9-year-old patients with repaired UCLP. Results: Interrater reliability of 0.73 and 0.48 was found for the SNAS and overall appearance assessment, respectively, while in the pilot study values of 0.79 and 0.69 were found. Correlation of 0.59 and 0.74 was found in the current and pilot study, respectively, between the SNAS and overall appearance assessment. Conclusions: The SNAS is a reliable tool to assess nasal symmetry from the submental perspective. Reliability of the SNAS is higher compared to grading overall appearance, but validity of the SNAS was less well supported

Aesthetics Assessment and Patient Reported Outcome of Nasolabial Aesthetics in 18-Year-Old Patients With Unilateral Cleft Lip

Objective: To determine if there is a correlation between objective nasolabial aesthetics assessment using the Cleft Aesthetic Rating Scale (CARS) and patient satisfaction. Design: Retrospective analysis of a generic satisfaction questionnaire and independent assessment by three cleft surgeons of the nasolabial area of these patients on 2D frontal photographs, using the CARS. Setting: The Vrije Universiteit Medical Center and The Academic Center for Dentistry Amsterdam. Patients: Thirty-nine 18-year old patients with a repaired complete or incomplete unilateral cleft lip, with or without a cleft palate, and a completed satisfaction questionnaire. Exclusion criteria were an incomplete questionnaire; a history of facial trauma; and congenital syndromes affecting facial appearance. Main Outcome Measures: The correlation between surgeon evaluation (on a 5-point Likert scale) and patient satisfaction (not, moderately or very satisfied) on nasolabial appearance was assessed using Spearman rho (ρ). Results: There was a negligible correlation between surgeon evaluation and patient satisfaction on nose assessment (ρ = 0.20) and a moderate correlation on lip assessment (ρ = 0.32). Conclusions: Most literature supports this discrepancy between different objective aesthetics evaluation methods and subjective patient-reported outcome measures, suggesting there are factors playing a role in patient satisfaction that are impossible to objectify with assessment methods. Therefore, a strong emphasis should remain on clear communication between the physician and patient regarding their expectations, perception, and satisfaction of surgery results

Dentition patterns in bilateral cleft lip subphenotypes: multicenter study

Objectives: Here, we retrospectively investigated cases of bilateral oral clefts (OCs) to determine the clinical relevance of detailed distinction of incomplete cleft lip subphenotypes, based on morphological severity of the cleft, within the categories cleft lip with or without alveolus (CL ± A) and cleft lip, alveolus, and palate (CLAP). We further assessed possible associations between CL subphenotypes (complete vs different incomplete types) and different dentition patterns of the lateral incisor. Materials and methods: Our analysis included 151 non-syndromic Caucasian bilateral OC-patients (8–20 years old) from the Dutch Association for Cleft Palate and Craniofacial Anomalies registry. Six different deciduous and permanent lateral incisor patterns were distinguished: normal position (z/Z), supernumerary lateral incisor (n/N), presence in the anterior (x/X) or posterior (y/Y) segment of the cleft, one in each cleft segment (xy/XY), and agenesis (ab/AB). Logistic regression was performed to show the associations between the CL subphenotypes and dentition patterns of the lateral incisor. Results: One hundred three had complete, while 48 had incomplete CLs. Patterns z/Z and n/N were associated with a submucous/vermillion notch, incomplete CL, and intact alveolus. Patterns x/X, y/Y, and xy/XY were most common in patients with two-thirds to subtotal CL and complete CL. The most severe pattern, ab/AB, was most commonly associated with complete CL. Conclusions: Based on the morphological severity of the CLs, it can be stated that the more severe the CL in bilateral CL ± A and CLAP, the more severe the abnormal pattern of the dentition. Clinical relevance: Further distinction of incomplete cleft lip subphenotypes (submucous/vermillion notch, one-third to two-thirds CL, two-thirds to subtotal CL) in bilateral CL ± A and CLAP has clinical relevance

The cleft aesthetic rating scale for 18-year-old unilateral cleft lip and palate patients: A tool for nasolabial aesthetics assessment

Objective: To develop a reliable and easy-to-use method to assess the nasolabial appearance of 18-year-old patients with unilateral cleft lip and palate (CLP). Design: Retrospective analysis of nasolabial aesthetics using a 5-point ordinal scale and newly developed photographic reference scale: the Cleft Aesthetic Rating Scale (CARS). Three cleft surgeons and 20 medical students scored the nasolabial appearance on standardized frontal photographs. Setting: VU University Medical Center, Amsterdam. Patients: Inclusion criteria: 18-year-old patients, unilateral cleft lip and palate, available photograph of the frontal view. Exclusion criteria: history of facial trauma, congenital syndromes affecting facial appearance. Eighty photographs were available for scoring. Main Outcome Measures: The interobserver and intraobserver reliability of the CARS for 18- year-old patients when used by cleft surgeons and medical students. Results: The interobserver reliability for the nose and lip together was 0.64 for the cleft surgeons and 0.61 for the medical students. There was an intraobserver reliability of 0.75 and 0.78 from the surgeons and students, respectively, on the nose and lip together. No significant difference was found between the cleft surgeons and medical students in the way they scored the nose (P = 0.22) and lip (P = 0.72). Conclusions: The Cleft Aesthetic Rating Scale for 18-year-old patients has a substantial overall estimated reliability when the average score is taken from three or more cleft surgeons or medical students assessing the nasolabial aesthetics of CLP patients

The Cleft Aesthetic Rating Scale for 18-Year-Old Unilateral Cleft Lip and Palate Patients: A Tool for Nasolabial Aesthetics Assessment

Objective To develop a reliable and easy-to-use method to assess the nasolabial appearance of 18-year-old patients with unilateral cleft lip and palate (CLP). Design Retrospective analysis of nasolabial aesthetics using a 5-point ordinal scale and newly developed photographic reference scale: the Cleft Aesthetic Rating Scale (CARS). Three cleft surgeons and 20 medical students scored the nasolabial appearance on standardized frontal photographs. Setting VU University Medical Center, Amsterdam. Patients Inclusion criteria: 18-year-old patients, unilateral cleft lip and palate, available photograph of the frontal view. EXCLUSION CRITERIA: history of facial trauma, congenital syndromes affecting facial appearance. Eighty photographs were available for scoring. Main Outcome Measures The interobserver and intraobserver reliability of the CARS for 18-year-old patients when used by cleft surgeons and medical students. Results The interobserver reliability for the nose and lip together was 0.64 for the cleft surgeons and 0.61 for the medical students. There was an intraobserver reliability of 0.75 and 0.78 from the surgeons and students, respectively, on the nose and lip together. No significant difference was found between the cleft surgeons and medical students in the way they scored the nose ( P = 0.22) and lip ( P = 0.72). Conclusions The Cleft Aesthetic Rating Scale for 18-year-old patients has a substantial overall estimated reliability when the average score is taken from three or more cleft surgeons or medical students assessing the nasolabial aesthetics of CLP patients

Permanent tooth agenesis in non-syndromic Robin sequence and cleft palate : prevalence and patterns

Objectives: Partial tooth agenesis is frequently observed in Robin sequence. Tooth anomalies are increasingly considered as an extended phenotype of the cleft palate population. The study objective was to compare the prevalence and patterns of tooth agenesis in a group of patients with non-syndromic Robin sequence (ns-RS) and a group with non-syndromic cleft palate (ns-CP). Materials and methods: The panoramic radiographs of 115 ns-RS and 191 ns-CP patients were assessed for agenesis of the permanent dentition (excluding third molars) and the patterns recorded using the Tooth Agenesis Code. Results: Partial tooth agenesis was observed in 47.8% of ns-RS and 29.8% of ns-CP patients with a greater prevalence in the mandibula than in the maxilla, particularly in ns-RS. The teeth most frequently absent in both groups were the mandibular second premolars and maxillary lateral incisors. Tooth agenesis was bilateral in two-thirds of affected ns-RS patients and one-half of ns-CP patients. In ns-RS, bilateral agenesis of the mandibular second premolars was more frequently observed in female than that in male patients. Completely symmetrical patterns of hypodontia were found in around 45% of ns-RS patients with tooth agenesis compared to 35% in ns-CP. No association was found between the extent of the palatal cleft and the severity of hypodontia. Conclusion: Tooth agenesis is more prevalent in ns-RS than that in ns-CP, demonstrates a much greater predilection for the mandible in ns-RS, and bears no relation to the extent of the palatal cleft. Clinical relevance: When compared to ns-CP, additional developmental disturbances are likely involved in the etiology of tooth agenesis in ns-RS. Future research could help identify the underlying genetic traits and aid in classifying patients in those with and without expected tooth agenesis in order to facilitate orthodontic management strategies