Beyond the face: An interdisciplinary evaluation of satisfaction with appearance in young people with orofacial clefts.

Orofacial clefts are the most common congenital anomaly of the face, and they significantly affect appearance. The combined effects of demographics, psychology, neurophysiology, and cleft characteristics to explain satisfaction with appearance in young people with a cleft have not yet been comprehensively studied in an interdisciplinary manner. We found that interpersonal difficulties, age, and conscientiousness were significant explanatory factors for satisfaction with appearance (tinterpersonal difficulties = -3.022, p = 0.006; tage = -3.563, p = 0.016; tconscientiousness = 4.161, p = 0.003); the model explained 50% of variance in satisfaction with appearance (R2 Adjusted = 0.504, Fvs. constant = 4.05, p = 0.00117). Furthermore, frontal alpha asymmetry was complexly intertwined with other variables, affecting the overall accuracy of the model, but explaining only 10.5% of variance in satisfaction with appearance when used as a factor alone. The results show that an interdisciplinary approach can substantially expand our understanding of the factors influencing self-perception in young people with orofacial clefts.

A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.

Although the aetiology of non-syndromic orofacial clefts (nsOFCs) is usually multifactorial, syndromic OFCs (syOFCs) are often caused by single mutations in known genes. Some syndromes, e.g., Van der Woude syndrome (VWS1; VWS2) and X-linked cleft palate with or without ankyloglossia (CPX), show only minor clinical signs in addition to OFC and are sometimes difficult to differentiate from nsOFCs. We recruited 34 Slovenian multi-case families with apparent nsOFCs (isolated OFCs or OFCs with minor additional facial signs). First, we examined IRF6, GRHL3, and TBX22 by Sanger or whole exome sequencing to identify VWS and CPX families. Next, we examined 72 additional nsOFC genes in the remaining families. Variant validation and co-segregation analysis were performed for each identified variant using Sanger sequencing, real-time quantitative PCR and microarray-based comparative genomic hybridization. We identified six disease-causing variants (three novel) in IRF6, GRHL3, and TBX22 in 21% of families with apparent nsOFCs, suggesting that our sequencing approach is useful for distinguishing syOFCs from nsOFCs. The novel variants, a frameshift variant in exon 7 of IRF6, a splice-altering variant in GRHL3, and a deletion of the coding exons of TBX22, indicate VWS1, VWS2, and CPX, respectively. We also identified five rare variants in nsOFC genes in families without VWS or CPX, but they could not be conclusively linked to nsOFC.

Maxillary arch dimensions, occlusion assessment and space conditions in patients with cleft palate in the period of deciduous dentition-A retrospective study.

PURPOSE: The aim of this study was to evaluate the maxillary arch dimensions, dentoalveolar relationships and spacing conditions in patients with cleft palate in comparison with the control group. METHODS: The subjects consisted of 31 children with cleft palate only (CP) aged 5.5 ± 0.51 (20 with a cleft of hard and soft palate (SHPC group) and 11 with a cleft of soft palate only (SPC group)). In the control group 30 subjects had a normal occlusion at age 5. Maxillary arch dimensions, dentoalveolar relationship according to the Huddard Bodenham index (HBI) and space conditions were compared with the control group. RESULTS: In all variables of maxillary arch dimensions except for total arch height the control group exhibited greater values. Most of the significant differences were on account of differences between the control and the SHPC group, with only three comparisons yielding significant results when comparing the two groups of children with clefts (SHPC vs SPC, IV-IV central: pDunnett T3= 0.0002, 95%CIDifference=-9.9-(-3.18); V-V distopalatal cusps: pDunnett T3= 0.0002, 95%CIDifference=-9.97-(-3.17); Total arch length: pDunnett T3= 0.0014, 95%CIDifference=1.74-7.85). The three groups differed significantly in anterior HBI only (HKruskal-Wallis=15.56, p = 0.0067). The spacing conditions in both jaws were also shown to be significantly dependent on the group of subjects studied (Upper jaw: χ2omnibus= 16.79, p = 0.0018; lower jaw: χ2omnibus= 13.75, p = 0.0102). CONCLUSIONS: The growth of the upper dental arch at the age of five is impeded in participants with CP in comparison to a control group. It is important to assess the effect of cleft subtypes on growth and development to get a better understanding.

Craniofacial reconstructions in children with craniosynostosis.

BACKGROUND: Craniosynostosis is a rare congenital disease of the skull. They arise when one or more cranial sutures ossify prematurely. This causes an obstruction to normal brain growth and leads to specific deformations of the skull, which may result in intracranial hypertension and cognitive delay. MATERIALS AND METHODS: We have retrospectively analysed all children treated at the Unit of paediatric neurosurgery of the University Medical Centre Ljubljana between June 2015 and September 2020. The following items have been recorded: affected suture, underlying syndromic condition, hydrocephalus, Chiari malformation, raised intracranial pressure, age at surgery, surgical technique, need for multiple operations and surgical complications. RESULTS: During the study period, 71 children have been treated for craniosynostosis. The median postoperative follow-up was 31 months. There were: 54.9% sagittal, 25.3% metopic, 14.0% unicoronal, 1.4% bicoronal and 1.4% unilateral lambdoid craniosynostosis. Multiple sutures were affected in 2.8% cases. 7.0% of the cases were syndromic. Overall, 74 surgical procedures have been performed: frontoorbital advancement represented 40.5% of them; biparietal remodelling 32.4%: total cranial vault remodelling 22.9%; posterior distraction 2.7%; posterior expansion 1.3%. Median age at surgery was 12.8 months. CONCLUSIONS: The treatment of craniosynostosis is surgical and requires a multidisciplinary approach, with expertise in plastic and reconstructive surgery, maxillofacial surgery and neurosurgery. The aim of surgical treatment is to release the constrictive and deformative effect that the synostosis has on skull growth. This requires a remodelling of the neurocranium and, if necessary, of the viscerocranium. Beyond aesthetic purposes, the primary aim of surgical treatment is to permit a normal development of the brain.

Anterior Esthetic Rehabilitation of an Alveolar Cleft Using Novel Minimally Invasive Prosthodontic Techniques: A Case Report.

Missing lateral incisors are the most frequent dental disorder associated with cleft alveolus. When orthodontic closure of the edentulous space is not possible, more aggressive prosthodontic treatments are required. Contemporary resin-bonded fixed dental prostheses (RBFDPs) represent a promising, time-efficient alternative treatment with fewer biological complications. This clinical report proposes a modified approach to the esthetic rehabilitation of a patient with a complete unilateral cleft lip and palate on the left side and an incomplete cleft lip and alveolar cleft on the right side. Digital diagnostics, treatment planning, and clinical procedures involved in the fabrication of facially bonded RBFDPs are presented. This modified technique enables the concurrent replacement of lateral incisors and correction of the malformed central incisors as well as increasing the retention of the restorations.

Preoperative planning with a 3D model and repair of sphenoid dysplasia: a technical note.

INTRODUCTION: Sphenoid dysplasia is a distinctive marker of neurofibromatosis 1. It is a malformation of the sphenoid bone characterized by an enlargement of the superior orbital fissure, through which the intracranial content herniates, leading to a facial disfigurement and exophthalmos and to a potential visual deterioration. Surgical treatment has the aim of separating the intracranial from the intraorbital space. METHODS AND RESULTS: We present a new technique for the repair of sphenoid dysplasia, based on the preoperative planning on a 3D print of the skull base. CONCLUSIONS: The use of a 3D skull base model allows an effective surgical planning and a precise modelling of the titanium mesh, which is implanted to separate the intracranial from the intraorbital space.

Incidence of residual oronasal fistulas: a 20-year experience.

OBJECTIVE: To determine the incidence and most frequent anatomical locations of residual oronasal fistulas in children with different types of clefts who were treated at the University Department of Maxillofacial and Oral Surgery in Ljubljana. DESIGN: Retrospective analysis of 857 consecutive patients with cleft born between 1984 and 2003. RESULTS: After primary surgical repair, 33 out of 857 (3.9%) children had residual oronasal fistulas. The incidence of clinically significant fistulas that required surgical repair was 17 of 857 (2.0%). In children with unilateral cleft lip and palate (UCLP), bilateral cleft lip and palate (BCLP), or isolated cleft palate (CP), the incidence of palatal fistulas was 23 of 644 (3.6%). Of these palatal fistulas, 12 (1.9%) were clinically significant. Oronasal fistulas were most frequently found in children with BCLP (9 of 88, 10.2%), followed by UCLP (12 of 215, 5.6%) and CP (12 of 341, 3.5%). No fistulas were found in children with unilateral cleft lip and alveolar ridge. In 10 cases (30.3%), the oronasal fistula remained in the alveolar ridge, in 11 cases (33.3%) in the anterior part of the hard palate, and in 11 cases (33.3%) at the junction of the hard and soft palates. In one case (3%), the records were lost. CONCLUSION: The low incidence of oronasal fistulas is the result of a surgical technique and tensionless suturing, followed by a two-layer closure, two-stage palate repair in BCLP and UCLP patients, and preoperative orthopedics in UCLP cases.

The periauricular transparotid approach for open reduction and internal fixation of condylar fractures.

INTRODUCTION: Treatment of fractures of the mandibular condyle fractures varies among centres as there still is no general consensus. The aim of this paper was to determine the safety and efficiency of surgical treatment using a transparotid approach for direct plating. PATIENTS AND METHODS: A prospective clinical study was conducted on 34 patients with 36 fractures of the condyle. All 36 fractures were displaced, and 14 (39%) of them were fracture dislocations. The fractures were treated surgically with a transparotid facelift or retromandibular approach using miniplates and screws for fixation. Patients were carefully followed up and were asked to answer a survey paper 2-39 months postoperatively. RESULTS: Occlusion practically identical to the pretraumatic condition was achieved in 31 out of 33 dentate patients (94%). Postoperative interincisal distance was 30-61 mm (mean 44 mm), 4 patients (12%) had postoperative deflection to the side of injury during mouth opening. Facial symmetry was achieved in all of the patients. Eight out of 36 cases (22%) had a transient weakness of certain ipsilateral facial muscle groups, lasting for 4-8 weeks. In one of these patients, a mild weakness of the upper lip and lower eyelid persisted after 13 months. There were 5 cases of miniplate fractures (14%), all of them in patients in whom 1.7 or thinner miniplates were used. There were 5 cases of salivary fistulae (14%), all of them in patients where the parotid capsule was not closed in a watertight fashion. According to the postoperative survey completed by 32 patients, 30 of them (94%) were very satisfied with the outcome of treatment. CONCLUSION: If conducted properly, the transparotid facelift approach offers a safe and effective approach for direct fixation of condylar fractures.