Search

Rare genetic diseases are difficult to diagnose and this translates in patient's diagnostic odyssey! This is particularly true for more than 900 rare diseases including orodental developmental anomalies such as missing teeth. However, if left untreated, their symptoms can become significant and disabling for the patient. Early detection and rapid management are therefore essential in this context. The i-Dent project aims to supply a pre-diagnostic tool to detect rare diseases with tooth agenesis of varying severity and pattern. To identify missing teeth, image segmentation models (Mask R-CNN, U-Net) have been trained for the automatic detection of teeth on patients' panoramic dental X-rays. Teeth segmentation enables the identification of teeth which are present or missing within the mouth. Furthermore, a dental age assessment is conducted to verify whether the absence of teeth is an anomaly or a characteristic of the patient's age. Due to the small size of our dataset, we developed a new dental age assessment technique based on the tooth eruption rate. Information about missing teeth is then used by a final algorithm based on the agenesis probabilities to propose a pre-diagnosis of a rare disease. The results obtained in detecting three types of genes (PAX9, WNT10A and EDA) by our system are very promising, providing a pre-diagnosis with an average accuracy of 72 %., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Objective: Describe the first hybrid global simulation-based comprehensive cleft care workshop, evaluate impact on participants, and compare experiences based on in-person versus virtual attendance., Design: Cross-sectional survey-based evaluation., Setting: International comprehensive cleft care workshop., Participants: Total of 489 participants., Interventions: Three-day simulation-based hybrid comprehensive cleft care workshop., Main Outcome Measures: Participant demographic data, perceived barriers and interventions needed for global comprehensive cleft care delivery, participant workshop satisfaction, and perceived short-term impact on practice stratified by in-person versus virtual attendance., Results: The workshop included 489 participants from 5 continents. The response rate was 39.9%. Participants perceived financial factors (30.3%) the most significant barrier and improvement in training (39.8%) as the most important intervention to overcome barriers facing cleft care delivery in low to middle-income countries. All participants reported a high level of satisfaction with the workshop and a strong positive perceived short-term impact on their practice. Importantly, while this was true for both in-person and virtual attendees, in-person attendees reported a significantly higher satisfaction with the workshop (28.63 ± 3.08 vs 27.63 ± 3.93; P  = .04) and perceived impact on their clinical practice (22.37 ± 3.42 vs 21.02 ± 3.45 P  = .01)., Conclusion: Hybrid simulation-based educational comprehensive cleft care workshops are overall well received by participants and have a positive perceived impact on their clinical practices. In-person attendance is associated with significantly higher satisfaction and perceived impact on practice. Considering that financial and health constraints may limit live meeting attendance, future efforts will focus on making in-person and virtual attendance more comparable.

Background: Social withdrawal is a risk indicator for infant development with both organic and non-organic causes. Cleft lip and palate (CLP) impose a higher risk of physical and emotional distress in infants and alters parent-infant relationships. The ADBB scale is a screening tool to identify social withdrawal as a sign of distress in infants. The aim of this study is to evaluate the prevalence of social withdrawal behavior in infants with CLP using the full 8-item ADBB scale and the modified 5-item ADBB scale, and to examine the feasibility of both scales., Methods: 145 infants with Cleft Lip and Palate were enrolled and video recorded during a pediatric consultation. All infants were scored by two expert raters trained in ADBB scale, and subsequently scored with the m-ADBB by an independent expert. We measured the interrater agreement for the full ADBB scale and psychometric properties of both scales., Results: The full ADBB scale identified 15.9% of infants as having social withdrawal behavior (score above cutoff ≥5). Among the infants evaluated with the m-ADBB scale, 44.9% had a score above the suggested cutoff (≥2). For both scales, the item "vocalization" showed the higher scores. We found a good internal consistency for the full ADBB (Cronbach's alpha = 0.82) and an acceptable internal consistency for the modified ADBB (Cronbach's alpha = 0.71). The interrater agreement for the full ADBB scale was excellent (kappa = 0.837). The Spearman correlation coefficient between the total scores of the two versions was 0.88 ( P < 0.001)., Conclusion: Our results indicate a relatively high prevalence of social withdrawal in infants with Cleft Lip and Palate, especially evaluated with the modified 5-item ADBB scale. We found that the full ADBB and the modified ADBB scales are feasible to use as screening tools of social withdrawal in this population., Clinical Trial Registration: This trial is registered on ClinicalTrials.gov, identifier: NCT00993993. The data is the property of Assistance Publique, Hôpitaux de Paris ., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Pérez Martínez, Grollemund, Gavelle, Viaux-Savelon and Guedeney.)

The primary aim of this study was to demonstrate whether primary rhinoplasty shows aesthetic and psychosocial advantages for children with a complete unilateral cleft lip and palate. The second aim was to determine the satisfaction levels concerning the dentofacial appearance. Group A corresponded to patients from a center specialised in primary cheilo-rhinoplasty with 20 years' experience and Group B to patients who did not benefit from primary rhinoplasty. Children and their parents filled in a custom-designed satisfaction questionnaire on dentofacial appearance and its psychosocial impact. The variables studied were the main criterion (the nose) and secondary criteria (the upper lip, the smile, the profile and the face as a whole). 56 families consented to be involved in the study. The children did not rate statistically differently their social relationships if they had primary rhinoplasty or not. Parents however expressed very different views. They considered the nasal appearance of the children who had primary rhinoplasty as statistically more attractive and evaluated their psychosocial experience as significantly better. For the other parts of the face, in both groups, satisfaction levels of dentofacial appearance and psychosocial comfort were good (scores above 80/100). Yet, 44% of the families would go for further interventions, especially concerning the nose (13% of whom were in Group A and 42% in Group B). Within the limitations of this study, primary rhinoplasty seems to improve the patient's well-being and social life and, therefore, should be considered whenever appropriate., (Copyright © 2021 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

Background: The objective of this prospective, multidisciplinary and multicenter study was to explore the effect of a cleft lip, associated or not with a cleft palate, on parents, on parent-infant relationship, and on the baby's relational development. It also highlighted how the type of cleft and the timing of the surgery could impact this effect., Method: 158 infants, with Cleft lip with or without Palate, and their parents participated in this multicenter prospective cohort. Clinical evaluations were performed at 4 and 12 months postpartum. The impact on the parents and on the parent-infant relationship was evaluated by the Parenting Stress Index (PSI), the Edinburgh Post-partum Depression Scale (EPDS) and the Impact-on-Family Scale (IOFS). The relational development of the infant was assessed using the Alarm Distress Baby Scale (ADBB). The main criteria used to compare the infants were the severity of cleft and the time of surgery., Results: The timing of surgery, the type of malformation or the care structure had no effect on social withdrawal behaviors of the child at 4 and 12 months postpartum (ADBB). Furthermore, early intervention significantly decreased maternal stress assessed with the PSI at 4 months. Parents for whom it had been possible to give a prenatal diagnosis were much better prepared to accept the waiting time between birth and the first surgical intervention (IOFS). Higher postpartum depression scores (EPDS) were found for both parents compared to the general population., Conclusion: A joint assessment of the mental health of both infants and parents is required in the follow-up of cleft lip and palate. Even if most families are remarkably resilient faced with this major cause of stress, a significant proportion of them could require help to deal with the situation, especially during this first year of follow-up. An assessment of the child's social withdrawal behaviour and of the parental stress and depression appears useful, in order to adapt care to infant and parent's needs., Trial Registration: ClinicalTrials.gov Identifier: NCT00993993. Registered 10/14/2009 <.

Introduction: This study focuses on the effects of rapid maxillary disjunction on the tendency to canine impaction in patients displaying a maxillary transverse skeletal deficiency., Materials and Methods: Using the segmentation method described by Ericson and Kurol and modified by Lindauer, et al., a series of panoramic views taken before and after disjunction was studied to compare changes in the position of the tip of the maxillary canine depending on whether it was covered or not by the homolateral lateral incisor, according to the side and patient's sex. The cohort consisted of 193 patients, all treated using a palatal expander welded to bands., Results: A statistically significant improvement was observed in all categories regarding the position of the maxillary canine. Disjunction was successful in 87% of cases in our sample. No significant differences were found according to side or sex., (© EDP Sciences, SFODF, 2017.)

Background and Purpose: Cleft surgery is marked by all the controversies and the multiplication of protocols, as it has been shown by the Eurocleft study. The objective of this pilot study is to start a comparison and analyzing procedure between primary surgical protocols in French centers., Methods: Four French centers with different primary surgical protocols for cleft lip and palate repair, have accepted to be involved in this retrospective study. In each center, 20 consecutive patients with complete cleft lip and palate (10 UCLP, 10 BCLP per center), non syndromic, have been evaluated at a mean age of 5 [range, 4-6]. In this second part, maxillary growth and palatine morphology were assessed on clinical examination and on dental casts (Goslon score). Speech was also evaluated clinically (Borel-maisonny classification) and by Aerophonoscope., Results: Veau-Wardill-Killner palatoplasty involves a higher rate of transversal maxillary deficiency and retromaxillary. The fistula rate is statistically lower with tibial periosteum graft hard palate closure but this technique seems to give retromaxillary. Malek and Talmant two-stage-palatoplasty techniques reach Goslon scores of 1 or 2. Considering speech, Sommerlad intravelar veloplasty got higher outcomes., Conclusions: Primary results. Extension to other centers required. The two-stage palatoplasty, including a Sommerlad intravelar veloplasty seems to have the less negative impact on maxillary growth, and to give good speech outcomes., Level of Evidence: Therapeutic study. Level III/retrospective multicenter comparative study., (Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

Background: Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders., Methods: We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption., Results: We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases., Conclusions: We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease., Trial Registration Numbers: NCT01746121 and NCT02397824., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/)

Background and Purpose: Although alveolar cleft bone grafting is the most widely accepted approach, controversies remain on the operative timing., Methods: A consecutive retrospective series of 28 patients who received alveolar bone grafting was examined and divided into 2 groups depending on the age at the time of bone graft. Group A (14 patients) was operated at a mean age of 5.2 years [range, 4-7] and Group B (14 patients) at a mean age of 10 years [range, 8.5-13]. All the children were assessed clinically and by Cone Beam Computed Tomography (CBCT) before bone grafting and 6 months post-operatively. Cleft and bone graft dimensions, volumes were assessed using Osirix v.3.9.2. Residual bone graft coefficient (Bone Graft Volume on 6-months Postoperative CBCT/Alveolar Cleft Volume) was calculated. Complications, tooth movement or dental agenesis were also reported., Results: The sample was uniform within both groups, considering cleft forms, pre-surgical fistula rate and cleft volume. Residual bone graft coefficient reached 63.3% in Group A and 46.2% in Group B (p = 0.012). Results of residual bone graft are also influenced by tooth eruption through the graft (p = 0.007 in Group A and p = 0.02 in Group B)., Conclusions: This 3D analysis highlighted higher success of alveolar bone grafts when children are operated earlier around 5 years., Level of Evidence: Therapeutic study. Level III/retrospective comparative study., (Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

Background and Purpose: Cleft surgery is marked by all the controversies and the multiplication of protocols, as it has been shown by the Eurocleft study. The objective of this pilot study is to start a comparison and analyzing procedure between primary surgical protocols in French centers., Methods: Four French centers with different primary surgical protocols for cleft lip and palate repair, have accepted to be involved in this retrospective study. In each center, 20 consecutive patients with complete cleft lip and palate (10 UCLP and 10 BCLP per center), non syndromic, have been evaluated at a mean age of 5 [4,6]. In this first part, the aesthetic results of nose and lip repair were assessed based on the scale established by Mortier et al. (1997)., Results: Considering nose outcome, primary cleft repair surgery including a nasal dissection gives a statistically significant benefit in terms of septum deviation. Considering lip result, muscular dehiscence rate is significantly higher in BCLP patients with a two-stage lip closure. The centers using Millard one-stage lip closure do not have uniform results. For UCLP patients, the quality of scar is not statistically different between Skoog and Millard techniques., Conclusions: Primary results based on a simple, reproducible evaluation protocol. Extension to other centers required., Level of Evidence: Therapeutic study. Level III/retrospective multicenter comparative study., (Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.)

When patients older than 60 decide to undergo orthodontic treatment, their motivation is not merely for esthetic purposes; it is also intended to preserve their biological capital. Their treatment is often complicated. The orthodontist has to take into account any particularities related to their past dental or even orthodontic history. Their treatment are freed, sometimes due to necessary compromises, from constraints that are determined by the occlusion, the periodontium or by prosthetic devices which are sometimes implant borne. For some patients, the original shape of their teeth that make up their smile are an integral part of their personality. By preserving the integrity of these teeth with an orthodontic treatment they avoid the sudden and jarring transformation of their smile and maintain their identity. Therapeutic choices that combine orthodontics and prosthetics and sometimes surgery can preserve the senescence of a face., (© EDP Sciences, SFODF, 2014.)

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

Background: The IOFS (Impact On Family Scale) questionnaire is a useful instrument to assess the impact of chronic childhood conditions on general family quality of life. As this instrument was not validated in French, we proposed to translate, adapt and validate the IOFS questionnaire for clinical and research use in French-speaking populations., Findings: The sample studied comprised French-speaking parents with a child presenting a cleft lip or cleft lip and palate, aged 6 to 12 years and treated in the University Hospital of Strasbourg, France. The 15-item version of the IOFS was translated into French and then sent to the parents by post. The structure of the measure was studied using Exploratory Factor Analysis (EFA), internal consistency was assessed using Cronbach's alpha coefficient and test-retest reliability was studied by calculating the Intraclass Correlation Coefficient (ICC)., Conclusions: The French version of the IOFS questionnaire exhibited very good psychometric properties. For practitioners, this instrument will facilitate the assessment of the impact of chronic childhood conditions on quality of life among French-speaking families.

Background: The birth of a child with a cleft lip, whether or not in association with a cleft palate, is a traumatic event for parents. This prospective, multidisciplinary and multi-centre study aims to explore the perceptions and feelings of parents in the year following the birth of their child, and to analyse parent-child relationships. Four inclusion centres have been selected, differing as to the date of the first surgical intervention, between birth and six months. The aim is to compare results, also distinguishing the subgroups of parents who were given the diagnosis in utero and those who were not., Methods/design: The main hypothesis is that the longer the time-lapse before the first surgical intervention, the more likely are the psychological perceptions of the parents to affect the harmonious development of their child. Parents and children are seen twice, when the child is 4 months (T0) and when the child is one year old (T1). At these two times, the psychological state of the child and his/her relational abilities are assessed by a specially trained professional, and self-administered questionnaires measuring factors liable to affect child-parent relationships are issued to the parents. The Alarme Détresse BéBé score for the child and the Parenting Stress Index score for the parents, measured when the child reaches one year, will be used as the main criteria to compare children with early surgery to children with late surgery, and those where the diagnosis was obtained prior to birth with those receiving it at birth., Discussion: The mental and psychological dimensions relating to the abnormality and its correction will be analysed for the parents (the importance of prenatal diagnosis, relational development with the child, self-image, quality of life) and also, for the first time, for the child (distress, withdrawal). In an ethical perspective, the different time lapses until surgery in the different protocols and their effects will be analysed, so as to serve as a reference for improving the quality of information during the waiting period, and the quality of support provided for parents and children by the healthcare team before the first surgical intervention., Trial Registration: ClinicalTrials.gov Identifier: NCT00993993.

Objective: Individuals with oral clefts exhibit considerably more dental anomalies than do individuals without clefts. Our aim was to evaluate the prevalence of tooth agenesis in a sample composed of 124 children (81 boys and 43 girls, mean age 12.5 years) with clefts registered with the Cleft Palate Center in Strasbourg (France)., Design: Cleft types and dental agenesis were assessed by clinical and radiographic examination. Cleft types were divided into four groups according to the clinical extent of the cleft (cleft lip only [CL, 12.9%], cleft lip and alveolus [CLA, 4%], cleft lip and palate [CLP, 49.2%], and cleft palate only [CP, 33.9%])., Results: Of the subjects 63% had evidence of hypodontia: maxillary lateral incisors (54%) and upper and lower premolars (32%) were the most common missing teeth. The number of dental ageneses associated with CP (54%) and CLP (79%) was significantly higher than that with CL (33%). All these anomalies were found in proportionately higher frequencies as the severity of the cleft increased, and we found left side predominance for hypodontia (p < .01) irrespective of cleft sidedness., Conclusions: Both right-sided and left-sided clefts were more frequently correlated with left-sided dental agenesis. This left-sided prevalence suggests that common signaling malfunctions might be involved, both in dental development anomalies and cleft genesis.

Cleft lips and palates (CLPs) are the most common human facial malformations. Depending on the ethnic and/or geographical origin of the studied populations, they can affect up to 1/500 newborns. The treatment of these patients is multidisciplinary because these malformations have not only aesthetic consequences but also functional consequences as the phonation, hearing, deglutition, mastication and ventilation are altered. These consequences can also be psychological since the building of the body image, the way others perceive it, is likely to be seriously altered. In Europe there are over 210 reference hospitals for children affected by CLP. Besides, about 190 different protocols were identified. So far no generic protocol was recognized by the medical community as a whole. This discrepancy can be explained by the fact that the aesthetic and functional result of a protocol cannot be accurately assessed before adulthood when the child's growth is complete. Patients presenting with CLP don't usually seem to present with any serious psychological or psychiatric pathology. Yet a close review of the related literature shows that disorders are actually described: behavioural troubles, anxiety, depression and esthetic dissatisfaction with one's face in children as well as in adults. The difficulty in interpreting these disorders lies in the various factors that are likely to impact this condition (family setting, importance and type of the cleft, surgery protocol, growth, social environment). A multidisciplinary examination of the face and a careful consideration of concerned families show the importance of the psychological context and the risks of a dis-harmonious structuring of the parents-child relationships on the child's development. The identification of the difficulties faced by these families, depending on the child's age, can be easily identified. Of course they can be identified at birth when the family first sees the child and later on at each stage of the child's life cycle (when starting at kindergarten where the child socializes for the very first time, at the start of the first year in primary school where pupils learn how to read and then at the start of secondary school which is yet another crucial step for the child due to the adolescence period). It is also obvious that an adult affected by CLP has a particularly heavy medical history as the patient had to go through various treatments and surgical interventions during his childhood and adolescence, which is even sometimes maintained at adulthood. Repeated appointments with the different specialists involved in their treatment punctuate their life as well as their parents'. This medico-surgical setting for facial malformations i.e. the features of the patient's face which are largely involved in their interpersonal relationships and the expression of emotions can have serious consequences. Most children presenting with CLPs and living in France benefit from regular follow-up schemes carried out in competent reference centres by a multidisciplinary team whose members represent each of the fields of expertise involved in the correction of this malformation: infantile and maxillofacial surgery, otorhinolaryngology (or ENT), ortho-phony and dentofacial orthopedics. Only the two French reference centres benefit from the permanent presence of a psychologist. This raises the question whether every care centre should take into care these children and their parents' mental health by offering psychological support during the course of the therapeutic follow-up scheme for these children, and this from an early age on as is recommended by the American Cleft Palate Craniofacial Association., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)

Patients with a Class III malocclusion generally present with a counterclockwise inclination of the occlusal plane, converging with Camper's line towards the front. This slope has an effect on mandibular movement (forward posture) and on chewing mechanisms in general. As dysfunctional mastication is likely to influence facial growth and inter-arch stability negatively, early orthopedic therapy of the occlusal unbalance concurrent with Class III malocclusion is justified. The aim of this article is to present a method of Class III treatment based on a correct re-orientation of the occlusal plane in order to achieve an optimal masticatory mechanism, essential for stability of early treatment outcomes., (Copyright © 2010 Società Italiana di Ortodonzia (SIDO). Published by Elsevier Srl. All rights reserved.)

Non syndromic cleft lip and palate (CLP) is the most frequent human malformation. CLP is of complex inheritance and at least twenty contributing chromosomal regions have been identified by linkage studies. On the other hand, mutations in several genes such as TWIST and FGFR2 result in syndromic cranio-facial abnormalities of highly variable range. It is our hypothesis that some mutations at TWIST might contribute to CLP in absence of other dysmorphic features. Thus, DNA biopsies of patients with non syndromic CLP are collected and prepared to search for allelic variations or mutations at TWIST. This study should contribute to improve the classification of facial malformations relative to gene, to help to a better understanding of the inheritance pattern of this pathology, to help to genetic counselling for some cases aiming at the prevention of genetic disease. This project is based on a close cooperation between the Orthodontic Department, the Paediatric Surgery Department and the Center for Clinical Investigation (University Hospital in Strasbourg), in a joint project with an academic research laboratory, expert in molecular biology and genetics.