Prevalence of Tympanostomy Tube Placement in Relation to Cleft Width and Type.

OBJECTIVES/HYPOTHESIS: The prevalence of tympanostomy tube surgery (TTS) in patients with a cleft deformity was investigated, in relation to cleft width and cleft type. STUDY DESIGN: Retrospective review of medical health records. METHODS: Retrospective review of medical health records. Seventy-eight patients with non-syndromic cleft deformity of the palate and/or alveolus and lip between 2003 and 2017 were investigated. All available medical documents were analyzed. The study group was divided into subgroups: 1) patients with isolated cleft palate (CP) and patients with a cleft palate with cleft lip and alveolus (CLP). 2) According to Veau's classification (I-IV), further subgroups were defined. Cleft width was measured using plaster cast models. RESULTS: TTS was performed in 55% of the patients (n = 43). Considering Veau's classification, TTS was conducted as follows: Veau I 65.2% (n = 15/23), Veau II 55.0% (n = 11/20), Veau III 47.6% (n = 10/21), and Veau IV 50.0% (n = 7/14). Cleft classifications, maxillary arch width, and absolute/relative cleft width had no statistical impact on TTS occurrence. Although no significant correlation could be found, patients in our study group with CP (Veau I and II) underwent TTS more often (60.5%, n = 26/43) than patients with CPL (Veau III and IV; 48.6%, n = 17/35) during a three-year follow-up. CONCLUSION: None of the cleft characteristics examined had a significant impact on the proportion of patients who received TTS. Nevertheless, patients with lower Veau classification and CP received tympanostomy tubes more often. Therefore, otolaryngologists and pediatricians treating children with cleft palate should maintain a high level of suspicion for chronic middle ear effusion, even in patients with small clefts. LEVEL OF EVIDENCE: 3 Laryngoscope, 131:E2764-E2769, 2021.

Post-operative intravenous fluid administration for infant cleft surgery: An observational study.

OBJECTIVE: To investigate post-operative intravenous fluid administration and length of stay in a single site cleft centre. Previous publications have linked increased length of stay following primary cleft surgery to the administration of intravenous fluids post-operatively. MATERIALS AND METHODS: One hundred and ten primary cleft operations were conducted from May 2015 to April 2016 on non-syndromic infants. At West Midlands Cleft Centre, there are three cleft surgeons and 20 paediatric anaesthetists. This observational study compares classification of cleft type and surgical procedure with intravenous fluid administration, time taken to tolerate oral feeding, and length of stay. RESULTS: Cleft lip repair infants had the shortest length of stay in hospital, 25 h 8 min (median) and 33% had intravenous fluids. The palate repair only and lip and palate repair children had a median length of stay of 29 h 20 min and 29 h 0 min respectively, A total of 79% and 76% of these groups had intravenous fluids administered. Cleft lip repair infants fed in significantly less time than palate alone or lip and palate operations (p values 0.00 and 0.03, respectively). CONCLUSION: Cleft lip repair only infants feed well post-operatively and rarely require intravenous fluids. Infants having cleft repair involving the palate are slower to feed orally, and may require fluids due to poor oral intake. Intravenous fluids following lip repair is associated with longer hospital stay. We suggest intravenous fluids may not be needed routinely following cleft lip repair, but should always be considered following repair involving the palate.

Strategic management of the minor-form and microform cleft lip: A long-term outcome assessment.

OBJECTIVE: The treatment of the lesser form cleft lip deformity (i.e., minor-form, microform, and mini-microform) is challenging to achieve patient satisfaction. There are no studies investigating how treatment outcomes balance patients' expectations and satisfaction with surgical or non-surgical care relative to the initial nasolabial findings. METHODS: Based on Mulliken's classification, consecutive records of patients with the lesser-form cleft lip from 1990 to 2015 were selected for analysis. Demographics, management, and revisions were reviewed. A panel analysis was performed based on the ratings from both professionals and non-professionals using patients' photographs. FACE-Q questionnaires were used to compare patient/parent-reported satisfaction to the normal controls. RESULTS: A total of 135 patients were included. All of the minor-form (23/23), 89% (58/65) of the microform, and 62% (29/47) of the mini-microform patients underwent surgery. Fifty-two percent (15/29) of the mini-microform patients, who underwent surgery, showed no significant improvement. Post-operative upper lip scars and remaining nasal asymmetry were the most common concerns in the treatment group. However, the FACE-Q results showed that patients experienced a statistically significant improvement in their overall facial appearance and social function in their respective groups. CONCLUSIONS: This study showed that differences exist in the perception of facial esthetics between the surgeon and the patient/parent. To achieve optimal individual treatment outcome and patient satisfaction, an awareness of the differences and treatment selection for patients are critical in surgical planning. This understanding and an open detailed discussion of overall long-term outcomes help in the management of patient expectations.

[Application of mathematical function model in morphological description and classification of bone defect in cleft palate cases].

Objective: To establish the functional models based on various shapes of bone defects in isolated cleft palate patients and to classify the bone defects of the cleft palate cases using different functional curves. Methods: Tracking back from January 2018 to December 2018, 143 patients with cleft palate (Veau Ⅰ & Ⅱ) treated in Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology, were included (age of 7 months to 25 years, average age 1.6 years, median age 1.0 year, the male to female ratio was 0.57∶1).The pre-operative (CT) data sets were reconstructed into a three dimensional model to produce a direct image of the cleft palate. According to the shapes of the bone defect, cleft palate cases were divided into three types, i.e."" shape, inverted "V" shape and inverted "U" shape, and then the cases were assessed and reviewed by five examiners independently. Using Microsoft Excel software, the curves of the bone defect were placed in the coordinate system for mathematical modeling, including exponential function (y=ae(bx)), linear function (y=ax+b) and logarithm function (y=alnx+b). The function of the maximum fit R(2) value was used as the final fit curve. Statistical analysis was performed in four aspects: ① The reliability and feasibility of the curve fitting of the functions; ② The calculation of the composition ratio of the types of bone defect; ③Analyzing the correspondence between the subjective judgment results and fitting function curves; ④ The R(2) values of three types of functional curves homologous to different morphological types, and the data were tested by variance analysis and P values were shown. Results: Among the 143 patients with cleft palate, the "" shaped defect accounted for 18% (26/143), the inverted "V" shaped defect accounted for 31% (44/143), and the inverted "U" shaped defect accounted for 51% (73/143). The coincidence rate of the "" shaped defect with the exponential function (y=ae(bx)) was 96%, the coincidence rate of the inverted "V" shaped defect with the linear function (y=ax+b) was 82%, and the coincidence rate of the inverted "U" shaped defect with the logarithmic function (y=alnx+b) was 93%. The differences in R(2) values amongst the three groups were statistically significant (P<0.05). Conclusions: The shapes of bone defects of the incomplete cleft palate can be described by functional curve models which include exponential, linear and logarithmic functions and can be used to classify and lay the foundation for digital classification of cleft lip and palate cases.

Craniofacial cephalometric morphologies in different cleft types: a retrospective cross-sectional study of 212 patients.

OBJECTIVE: The aim of this study was to evaluate and compare the craniofacial cephalometric morphologies among different cleft types in a Spanish population. METHODS: A retrospective cross-sectional study was carried out on 212 patients. The patients were subdivided into four groups according to their cleft types: unilateral cleft lip and palate; bilateral cleft lip and palate; cleft lip; and cleft palate. Angular and linear cephalometric measurements were taken on lateral radiographs. RESULTS: Unilateral cleft lip and palate was associated with a dolichofacial growth pattern, skeletal Class III with correct maxillary position, and lingual incisor inclination. Bilateral cleft lip and palate was associated with a mesofacial growth pattern, skeletal Class I with protruded maxillary position, and lingual incisor inclination. Cleft palate was associated with a mesofacial growth pattern, skeletal Class III with correct maxillary position, and lingual incisor inclination. Cleft lip was associated with a brachyfacial growth pattern, skeletal Class I with protruded maxillary position, lingual upper incisor inclination, and corrects lower incisor inclination. Significant correlations were observed between cleft types and their craniofacial cephalometric measurements. CONCLUSIONS: The present information can be used for the determination of orthodontic treatment and even future orthognathic surgery planning, a requirement in most cleft patients.

Microforma de fisura labial superior incompleta unilateral: reporte de un caso / Microform of unilateral incomplete upper cleft lip: report of a case

La microforma de fisura labial es una expresión de la fisura labial superior incompleta que se caracteriza por un surco o depresión cutáneomuscular a lo largo del margen del filtrum, asimetría o discontinuidad del margen mucocutáneo a nivel del pico del arco de Cupido, discontinuidad de la porción superior del músculo orbicular de la boca y deformidad menor del ala nasal. Es una condición que por su aparente poca gravedad y aparente fácil reparación, así como por su inusual presentación clínica, los reportes literarios sobre ella son escasos. Se presenta una revisión bibliográfica al respecto y se comunica un caso clínico como aporte a la literatura (AU)

The microform cleft lip is an expression of incomplete superior cleft lip is characterized by a groove or depression cutaneous and muscular along the margins of the philtrum, asymmetry or discontinuity mucocutaneous margin at the peak of Cupid's bow, discontinuity in the upper portion of the orbicularis oris muscle and minor deformity of the nasal ala. It is a condition for its apparent low gravity and apparent easy to repair as well as for its unusual clinical presentation, literature reports are scarce. We present a literature review and communicate about a case as a contribution to literature (AU)

Cleft Skeletal Asymmetry: Asymmetry Index, Classification and Application.

OBJECTIVE: To quantitatively measure the extent of 3D asymmetry of the facial skeleton in patients with unilateral cleft lip and palate (UCLP) using an asymmetry index (AI) approach, and to illustrate the applicability of the index in guiding and measuring treatment outcome. METHOD: Two groups of subjects between the ages of 15 and 20 who had archived CBCT scan were included in this study. Twenty-five patients with complete UCLP were compared with 50 age-matched noncleft subjects. The CBCT scans were segmented and landmarked for 3D anthropometric analysis. An AI was calculated as a quantitative measure of the extent of facial skeletal asymmetry. RESULTS: For the control group, the AI ranged from 0.72 ± 0.47 at A point to 4.77 ± 1.59 at Gonion. The degree of asymmetry increased with the increasing laterality of the landmark from the midsagittal plane. In the UCLP group, the values of AI significantly increased compared to the control group at nearly all measured landmarks. The extent of the asymmetry to involve the upper, middle, and lower facial skeleton varied widely with the individual patient with UCLP. CONCLUSION: The asymmetry index is capable of capturing the 3D facial asymmetry of subjects with UCLP and as a basis for classification of the extent of the asymmetry. We found the index to be applicable in surgical planning and in measuring the outcome in improving the symmetry in patients who have undergone orthognathic surgery.

Secondary Cleft Nasolabial Deformities: A New Classification System for Evaluation and Surgical Revision.

INTRODUCTION: Secondary or residual cleft lip and nasal deformities following primary unilateral or bilateral cleft lip repair are common. Many classification systems have been proposed to describe congenital cleft lip and palate deformities before repair. This article proposes a one-of-a-kind classification system for residual cleft deformities and describes its application to 136 cleft lip revision cases from cleft outreach missions worldwide. METHODS: Patients' demographics and deformities were classified preoperatively, and a database of the classification was created. Postoperatively, the type of surgery performed was added to the database and comparison was done using an independent t test. RESULTS: Kappa coefficient was 0.92 and showed excellent agreement between the type assigned preoperatively to the patient and the type of procedure done. CONCLUSIONS: This system proves to provide good descriptions of the deformities, is user friendly, facilitates the planning of the corrective surgical procedure, and enhances the communicative lingo between surgeons and members of cleft multidisciplinary care teams. It is broadly applicable in outreach missions with limited resources and cleft referral centers with considerable load.

Clinical Finding and Management of 12 Orofacial Clefts Cases With Nevoid Basal Cell Carcinoma Syndrome.

Objective To study the phenotype and overview the clinical management on Cleft Lip and/or Palate (CL/P) with Nevoid Basal Cell Carcinoma Syndrome (NBCCS) patients in Peking University School and Hospital of Stomatology. Design Case series study. Main Outcome Measures To describe the clinical phenotype of 12 CL/P with NBCCS patients who fulfilled the diagnostic criteria as well as to explore clinical management. Results Seven cases (7/12, 58.33%) were classified as bilateral complete cleft lip and palate (BCCLP). Two cases (2/12, 16.67%) were classified as unilateral complete cleft lip and palate (UCCLP). Three cases (1/12, 8.33%) were classified as unilateral complete cleft lip (UCCL), submucosa cleft uvula (SCU), and bifid uvula (BU), respectively. The ratio of male/female was 9/:3. Keratocystic odontogenic tumors (KCOTs) were presented in all 12 cases. The most common site was the mandible region (12/12, 100%) followed by the maxilla region (7/12, 58.33%). The diagnostic age of 12 NBCCS with CL/P ranged from 11 to 42 years old (usually postponed to the occurring of KCOTs). The delayed diagnosis of NBCCS can be attributed to its complicated clinical manifestations. In some cases, the mutual effect between the surgical therapy of removing KCOTs and alveolar bone grafting made the team approach (TA) of CL/P more complicated. Conclusion CL/P may become important clinical phenotype in NBCCS. The type of cleft varied, with bilateral cleft lip and palate comprising above 50%. Larger sample sizes are needed to study and confirm this result. KCOTs, as one of the most common clinical feature of NBCCS, make the diagnosis delayed and the TA more difficult because of the occurring time and site. This compels us to improve the diagnostic criteria to make an early diagnosis and explore a better therapeutic protocol for CL/P.

Single stage correction of bilateral tessier 4 cleft.

Tessier facial clefts are among the rarest facial clefts reported in literature and many contradicting issues have always been rising over the management and surgical approaches involved during the craniofacial cleft repair. Among the craniofacial clefts Tessier no. 4 is an extremely rare facial anomaly, and there are very few evidence which clearly describe the surgical approaches and techniques. Often these type of craniofacial clefts yield very poor surgical results, and they require multidisciplinary sequential corrective surgeries. This article presents a rare case of an 18-month-old baby with bilateral Tessier no. 4 clefts and its successful rehabilitation.

Comprehensive and reliable classification system for primary diagnosis of cleft lip and palate.

OBJECTIVE: Due to the lack of a universally accepted classification system, we are aiming to introduce a modified comprehensive, precise and relatively simple classification system for primary diagnosis of cleft lip and palate. METHODS: The proposed classification is based on the Kernahan's striped Y diagram with more details in cleft extent and with the addition of severity scores to each cleft component. Clear definitions of cleft extents and severity degrees were described based on 400 consecutive primary cases. Two medical students were taught the classification then diagnosed photographs of 100 cases twice to test its reliability. RESULTS: The students' results were 11% and 13% wrong diagnoses for student 1 and 2 in the first time, 8% and 10% in the second time, respectively. The inter-rater reliability for the two students in the first and second time was 0.716 and 0.878, respectively. The intra-rater reliability for student 1 and 2 were 0.826 and 0.755 respectively. The average duration to diagnose a case was less than a minute. CONCLUSION: This classification is comprehensive and records many diagnostic variables with high reliability and precision.

Simonart's Band: Its Effect on Cleft Classification and Recommendations for Standardized Nomenclature.

OBJECTIVE: Accurate classification of cleft lip plays an important role in communication, treatment planning, and comparison of outcomes across centers. Although there is reasonable consensus in defining cleft types, the presence of Simonart's band can make classification challenging. Our objective was to survey cleft care providers to determine what all consider to be Simonart's band, how its presence effects cleft lip classification, and to provide recommendations for standardized nomenclature. DESIGN: A multiple-choice survey was e-mailed to 1815 members of the American Cleft Palate-Craniofacial Association, assessing each respondent's definition of Simonart's band and its effect on cleft classification. Cleft classification was drawn from the ICD system diagnosis billing codes. Descriptive analysis was performed. RESULTS: Three hundred seventy-three providers completed the survey (20.5% response), the majority of whom were surgeons (61.5%); 87.1% agreed with the definition that a Simonart's band is "any soft tissue bridge located at the base of the nostril or more internally, between the segmented ridges." However, only 41.8% felt that the presence of a Simonart's band rendered a cleft lip incomplete; 54.4% felt that an alveolar cleft was the defining difference between a complete and an incomplete cleft lip. When asked to define the child with a cleft involving the upper lip that extends into the naris but interrupted by a soft tissue bridge located only at the base of the nostril or more internally, without a cleft of the alveolar ridge and palate, 61.4% classified this as an incomplete cleft lip, 32.7% as a complete cleft lip, and 5.9% as an unspecified cleft lip. CONCLUSIONS: Responses revealed wide discrepancy in the classification of cleft phenotypes and in the interpretation of the significance of anatomical components in the classification of a cleft lip. We discuss the difficulty in aligning classification based on unclear definition of terms and variable anatomic parameters. We highlight this issue in the face of a need for comparability in clinical evidence-based practices. To ensure precision and uniformity in cleft classification, we recommend that use of the term "Simonart's band" be abandoned while incorporating a notation of the integrity of the nasal sill into the LAHSHAL system. We propose a uniform definition of incomplete versus complete cleft lip, wherein a cleft lip will be classified as complete in the presence or absence of narrow bands of tissue present at the base of the nasal sill or more internally.

Tessier Clefts and Hypertelorism.

Tessier's classification system for rare craniofacial clefts remains the most widely used today. It denotes the position of the cleft process in a schema based around the orbit, and facilitates communication between surgeons regarding these complicated conditions. Tessier's classification is reviewed in detail, and a separate discussion of hypertelorism (increased distance between the bony orbits) follows, focusing on orbital hypertelorism in the setting of craniofacial clefts.

Management of Lip Pits in Van der Woude Syndrome: A Clinical Classification With Difficulty Index.

PURPOSE: Numerous case reports have been published on lip pits in Van der Woude syndrome explaining the morphology and genetics in detail; however, thus far, no article has focused on the classification of lip pits as an aid in surgical management. Although the procedure for lip pits in Van der Woude syndrome appears straightforward, even in the best of hands, the excision can be very challenging with no guarantee of esthetically desirable results. Therefore, we have devised a classification based on a difficulty index in the management of lower lip pits to assist in predicting the treatment outcome before surgery, as well as to offer the choice of a particular technique in a specific situation. MATERIALS AND METHODS: We reviewed 19 cases of Van der Woude syndrome having lower lip pits that were operated on at our unit from May 2005 to June 2015 with a minimum follow-up of at least 6 months. The data analyzed included the patient's age and gender, location of the lip pits with regard to their proximity to the white skin roll, number of lip pits, presurgical depth of the lip pits, and discharge of mucous secretion from the pits, as well as timing of lip pit excision. Four techniques of excision were performed via routine excision, modified routine excision, vertical wedge excision, and inverted-T lip reduction. The data were tabulated and analyzed. On the basis of our experience in managing lip pits, a clinically relevant classification with a difficulty index was then proposed. RESULTS: Among the 12 patients having preoperative involvement of the white skin roll, 8 had distortion of the white skin roll when operated on by either routine excision (n = 2), modified routine excision (n = 3), or inverted-T lip reduction (n = 3). The remaining 4 patients had no distortion of the white skin roll after surgery when the vertical wedge excision technique was performed. The 7 patients who had no distortion of the white skin roll preoperatively presented with esthetic results when operated on by either the routine excision, modified routine excision, or inverted-T lip reduction technique. In 2 patients with a presurgical pit depth greater than 6 mm, mucocele formation was observed after surgery. Using the data obtained, we proposed a classification based on 2 parameters: involvement of the white skin roll and presurgical depth. A difficulty index also was proposed using these same variables. CONCLUSIONS: Classification and evaluation of the difficulty of lip pit excision are essential in planning the surgical treatment to give improved esthetic results. This proposed classification and difficulty index will provide the operating surgeon with a standardized scheme to evaluate the difficulty of the excision as well as to predict the overall outcome of the procedure before surgery.

GAND classification and volumetric assessment of unilateral cleft lip and palate malformations using cone beam computed tomography.

The aim of this study was to propose a classification for unilateral cleft lip and palate (UCLP) malformations based on cone beam computed tomography (CBCT) images, as well as to estimate the amount of bone necessary for grafting, and to evaluate the relationship of this volume with scores obtained using the classification. CBCT images of 33 subjects with UCLP were evaluated according to gap, arch, nasal, and dental parameters (GAND classification). Additionally, these defects were segmented and the amount of graft needed for alveolar bone grafting was estimated. The reproducibility of GAND classification was analyzed by weighted kappa test. The association of volume assessment with the classification (gap and nasal parameters) was verified using analysis of variance, while the intra-observer agreement was analyzed using the intra-class correlation coefficient. The intra-observer reproducibility of the classification ranged from 0.29 to 0.92 and the inter-observer agreement ranged from 0.29 to 0.91. There were no statistically significant values when evaluating the association of the volume with the classification (P>0.05). The GAND classification is a novel system that allows the quick estimation of the extent and complexity of the cleft. It is not possible to estimate the amount of bone needed for alveolar bone grafting based on the classification; individualized surgical planning should be done for each patient specifically.

Median cleft of the upper lip: A new classification to guide treatment decisions.

Median cleft of the upper lip (MCL) is a specific and rare entity on the spectrum of facial clefts. MCL have different clinical expressions and can be either isolated or part of multiple malformations. Confusion still exists regarding the explanation and classification of MCL; some cases have been reported in the literature, but no studies carried out a complete review of the literature. This study reviewed cases of MCL in 2 French units and conducted a systematic review of the literature, in order to derive a new classification. Fourteen patients with MCL in the 2 units and 195 cases in the literature were reviewed. They involved complete (42%), incomplete (49%), and minor forms (9%). Epidemiological and clinical data were collected, from which a classification was derived, based on the type of cleft and its belonging to other syndrome(s). Three main groups were distinguished, namely, isolated MCL, MCL within craniofacial malformations, and MCL with extrafacial malformations. Each group and subgroup was associated with a prognosis and led to specific management. This study reviewed all of the various forms of MCL and their associated anomalies, in order to have a global view of MCL and to derive a useful classification scheme to guide management of care.

Midline Cleft Lip and Bifid Nose Deformity: Description, Classification, and Treatment.

BACKGROUND: Midline facial clefts are rare and challenging deformities caused by failure of fusion of the medial nasal prominences. These anomalies vary in severity, and may include microform lines or midline lip notching, incomplete or complete labial clefting, nasal bifidity, or severe craniofacial bony and soft tissue anomalies with orbital hypertelorism and frontoethmoidal encephaloceles. In this study, the authors present 4 cases, classify the spectrum of midline cleft anomalies, and review our technical approaches to the surgical correction of midline cleft lip and bifid nasal deformities. Embryology and associated anomalies are discussed. METHODS: The authors retrospectively reviewed our experience with 4 cases of midline cleft lip with and without nasal deformities of varied complexity. In addition, a comprehensive literature search was performed, identifying studies published relating to midline cleft lip and/or bifid nose deformities. Our assessment of the anomalies in our series, in conjunction with published reports, was used to establish a 5-tiered classification system. Technical approaches and clinical reports are described. RESULTS: Functional and aesthetic anatomic correction was successfully achieved in each case without complication. A classification and treatment strategy for the treatment of midline cleft lip and bifid nose deformity is presented. CONCLUSIONS: The successful treatment of midline cleft lip and bifid nose deformities first requires the identification and classification of the wide variety of anomalies. With exposure of abnormal nasolabial anatomy, the excision of redundant skin and soft tissue, anatomic approximation of cartilaginous elements, orbicularis oris muscle repair, and craniofacial osteotomy and reduction as indicated, a single-stage correction of midline cleft lip and bifid nasal deformity can be safely and effectively achieved.

Rare Facial Clefts.

UNLABELLED: In 1976 Dr. Paul Tessier described numeric classification for rare craniofacial clefts. He first emphasized that a fissure of the soft tissue corresponds, as a general rule, to a cleft of the bony structure. The classification, easy to understand, became widely accepted because the recording of the malformations was simple and facilitated communication between observers. The aim of this study was to present our own experience with treatment of patients with rare facial clefts. MATERIAL AND METHODS: Our Department has 11 patients with rare craniofacial clefts under its care. This group includes 8 boys and 3 girls. The patients aged from 2 months to 18 years at the time of the first consultation. RESULTS: In two patients the cleft was median, in seven patients it was one-sided and in two--bilateral. The most common type of cleft was number 6, and the rarest were 2, 3, and 7. All patients underwent surgical treatment. CONCLUSIONS: Atypical facial clefts are rare congenital anomalies, however because of functional and aesthetic disturbances they constitute a serious medical and therapeutic problem. Facial clefts are characterized by variable clinical presentation and require individualized treatment plan.

IRF6 Is a Marker of Severity in Nonsyndromic Cleft Lip/Palate.

Nonsyndromic cleft lip with or without palate (CL/P) is thought to be caused by the interplay of genetic and environmental factors, and this has thus hindered the process of identifying genetic causative factors. Numerous studies in the past decade have implicated IRF6 in CL/P, but this has not often been replicated in other populations. In specific, the only etiologic single-nucleotide polymorphism (SNP) identified in the IRF6 locus (rs642961) has recently been shown not to be associated with CL/P in diverse populations. We therefore used a genewide tagging SNP (tagSNP) haplotyping approach (including rs642961 as a tagSNP) to detect all potential risk-conferring haplotypes and combined this with detailed subphenotyping of CL/P cases (N = 150) according to severity. We observed a significant overrepresentation of a tagSNP haplotype carrying the rs642961 risk allele in the most severe subphenotype of CL/P (complete bilateral CL/P; P = 0.008, odds ratio = 4.97, 95% confidence interval = 1.33 to 18.46). It was recently shown that >80% of IRF6 mutations in syndromic CL/P occur on the same haplotype background. We therefore suggest that IRF6 is a marker of CL/P severity.

[Cleft lip, alveolar and palate sequelae. Proposal of new alveolar score by the Alveolar Cleft Score (ACS) classification]. / Séquelles de fentes labio-maxillo-palatines : détermination d'un nouveau score alvéolaire par la classification Alveolar Cleft Score (ACS).

INTRODUCTION: The management of cleft lip, alveolar and palate sequelae remains problematic today. To optimize it, we tried to establish a new clinical index for diagnostic and prognostic purposes. TECHNICAL NOTE: Seven tissue indicators, that we consider to be important in the management of alveolar sequelae, are listed by assigning them individual scores. The final score, obtained by adding together the individual scores, can take a low, high or maximum value. DISCUSSION: We propose a new classification (ACS: Alveolar Cleft Score) that guides the therapeutic team to a prognosis approach, in terms of the recommended surgical and prosthetic reconstruction, the type of medical care required, and the preventive and supportive therapy to establish. Current studies are often only based on a standard radiological evaluation of the alveolar bone height at the cleft site. However, the gingival, the osseous and the cellular areas bordering the alveolar cleft sequelae induce many clinical parameters, which should be reflected in the morphological diagnosis, to better direct the surgical indications and the future prosthetic requirements, and to best maintain successful long term aesthetic and functional results.