Versnel, S.L.

Long-term assessment of facial features and functions needing more attention in treatment of Treacher Collins syndrome (Article)

2013-04-22T00:00:00Z

Aim: This study aimed to determine which facial features and functions need more attention during surgical treatment of Treacher Collins syndrome (TCS) in the long term. Method: A cross-sectional cohort study was conducted to compare 23 TCS patients with 206 controls (all ≥18 years) regarding satisfaction with their face. The adjusted Body Cathexis Scale was used to determine satisfaction with the appearance of the different facial features and functions. Desire for further treatment of these items was questioned. For each patient an overview was made of all facial operations performed, the affected facial features and the objective severity of the facial deformities. Results: Patients were least satisfied with the appearance of the ears, facial profile and eyelids and with the functions hearing and nasal patency (P < 0.001). Residual deformity of the reconstructed facial areas remained a problem in mainly the orbital area. The desire for further treatment and dissatisfaction was high in the operated patients, predominantly for eyelid reconstructions. Another significant wish was for improvement of hearing. Conclusion: In patients with TCS, functional deficits of the face are shown to be as important as the facial appearance. Particularly nasal patency and hearing are frequently impaired and require routine screening and treatment from intake onwards. Furthermore, correction of ear deformities and midface hypoplasia should be offered and performed more frequently. Residual deformity and dissatisfaction remains a problem, especially in reconstructed eyelids. Level of evidence: II.

Assessing nonacceptance of the facial appearance in adult patients after complete treatment of their rare facial cleft (Article)

2012-08-01T00:00:00Z

Background Treatment of patients with severe congenital facial disfigurements is aimed at restoring an aesthetic and functional balance. Besides an adequate level of satisfaction, an individual's acceptance of facial appearance is important to achieve because nonacceptance is thought to lead to daily psychological struggles. This study objectified the prevalence of nonacceptance among adult patients treated for their severe facial clefts, evaluated risk factors, and developed a screening tool. Methods The study included 59 adults with completed treatment for their severe facial cleft. All the patients underwent a semistructured in-depth interview and filled out the Body Cathexis Scale. Results Nonacceptance of facial appearance was experienced by 44 % of the patients. Of the nonaccepting patients, 72 % experienced difficulties in everyday activities related to their appearance versus 35 % of the accepting patients. Acceptance did not correlate with objective severity or bullying in the past. Risk factors for nonacceptance were high self-perceived visibility, a troublesome puberty period, and an emotion-focused coping strategy. Also, the presence of functional problems was shown to be highly associated. Conclusions The objective severity of the residual deformity did not correlate with the patients' acceptance of their facial appearance, but the self-perceived visibility did correlate. The process of nonacceptance resembles the process seen in patients with body dysmorphic disorders. Surgical treatment is no guarantee for an improvement in acceptance and is therefore discouraged for patients who match the risk factors for nonacceptance unless it solves a functional problem. The authors therefore recommend screening patients for nonacceptance and considering psychological treatment before surgery is performed. Level of Evidence III This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors at www.springer.com/00266.

Long-term psychological functioning of adults with severe congenital facial disfigurement (Article)

2012-01-01T00:00:00Z

BACKGROUND: In adults with severe congenital facial disfigurement, assessment of long-term psychological impact remains limited. This study determines the long-term psychological functioning in these patients and evaluates differences compared with patients with acquired facial disfigurement and a non-facially disfigured reference group. Also explored is the extent to which psychological functioning of the congenital group is related to satisfaction with facial appearance, fear of negative appearance evaluation by others, self-esteem, and severity of the facial deformity. METHODS: Fifty-nine adults with severe congenital facial disfigurement, 59 adults with a traumatically acquired facial deformity in adulthood, and 120 non-facially disfigured adults completed standardized psychological, physical, and demographic questionnaires, including the Fear of Negative Appearance Evaluation Scale, the Rosenberg Self-Esteem Scale, the Hospital Anxiety and Depression Scale, the Achenbach Adult Self-Report, the 36-Item Short-Form Health Survey, and a visual analogue scale. RESULTS: Adults with severe congenital facial disfigurement had relatively normal psychological functioning but appeared more prone to internalizing problems than the non-facially disfigured adults. Compared with patients with an acquired facial deformity, the congenital group displayed fewer problems on the physical component score of quality of life only. Satisfaction with facial appearance, fear of negative appearance evaluation, and self-esteem were good predictors of the different aspects of psychological functioning, with the exception of the physical component score of quality of life. CONCLUSIONS: Improving satisfaction with facial appearance (by surgery), enhancing self-esteem, or lowering fear of negative appearance evaluation (by psychological support) may enhance long-term psychological functioning. Future research should focus on the individual patient and risk factors for maladjustment. Copyright

Long-term results after 40 years experience with treatment of rare facial clefts: Part 2 - Symmetrical median clefts (Article)

2011-10-01T00:00:00Z

Background: Median facial clefts are reconstructive challenges, requiring multiple operations throughout life. Long-term results are often still far from ideal and could be improved. Due to surgical intervention and diminished intrinsic growth potential, surgical results may change from initially good into a progressively disappointing outcome. If, however, the ideal timing and type of surgery are known, in combination with the intrinsic growth potential, the results can be ameliorated. A guideline for surgical treatment is given. Methods: Twenty patients with a pure symmetrical median cleft were evaluated on intermediate and long-term surgical results. The final result was scored based on severity of the initial and the remaining facial deformities, and the need for revisional surgery. Results: The long-term surgical outcome was initially good for each of the affected facial parts and the face in general, but worsened over time, especially in the zone of the nose. An adequate and stable result of hypertelorism correction was observed for both the orbital box osteotomy and medial faciotomy, even when performed at a young age. Conclusions: The intrinsic growth restriction is mainly localised in the central midface. This leads to a complex and often unpredictable growth of the maturing face. It makes it difficult to achieve perfect reconstructions. Caution with surgical interventions of the nose at a young age is required. Once the face has matured, a midface advancement and secondary nose correction should be considered for satisfactory projection. Early referral to a specialised centre is essential.

Long-term results after 40 years experience with treatment of rare facial clefts: Part 1-oblique and paramedian clefts (Article)

2011-10-01T00:00:00Z

Background: Oblique and paramedian rare facial clefts impose a major reconstructive challenge and long-term assessments of the outcomes remain scarce. This study provides new details regarding surgical techniques and timing, influence of growth, and difficulties of this pathology on the long-term; a guideline for surgical treatment is given. Methods: Twenty-nine adults with an oblique or paramedian facial cleft and surgically treated in the authors' unit between 1969 and 2009, were included. The long-term evaluation was based on series of photographs, 3D-CT's, X-rays, operation data, and was specified per facial area. Results: The mean number of performed operations per patient was 10.6 (range: 1-26). Vertical dystopia is not caused by previous surgery, but by growth deficiencies of the maxilla. In all patients with vertical dystopia, its presence and severity were clear at the age of five, and it should ideally be treated shortly after that age. In mild cases grafting seems sufficient, but in more severe cases orbital translocation is necessary. Costochondral grafts showed the best long-term results in both orbital and nasal reconstructions. Major nose reconstruction is best delayed until adolescence. For an optimal final result in selected cases, correction of midface hypoplasia at adolescence is necessary. Conclusion: The three-dimensional underdevelopment of the midface region plays a central role in the deformities of most patients, but is complex and difficult to correct. The provided guideline should help to minimize the number of operations and ameliorate long-term results.

Let’s Face It: Causes, treatment and consequences of rare facial clefts (Doctoral Thesis)

2010-11-12T00:00:00Z

The incidence of a congenital malformation is 1 on 33 live newborn. A congenital malformation can occur in all tissues and all body parts, and can present as an isolated malformation or as a part of a syndrome. Congenital malformations of the skull, face and jaws represent the craniofacial malformations. There are numerous types of congenital craniofacial malformations, which differ in location, pathomorphogenesis and incidence among other things. Congenital craniofacial clefts, other than just clefts of the lip and palate, are a very rare condition. These ‘rare facial clefts’ encompass a wide variety of craniofacial dysmorphologies. All facial parts and all tissue-layers of the face can be involved in various degrees of severity. Bone and soft tissues are rarely involved to the same extent. The cleft can occur unilaterally or bilaterally, in the midline of the face or more paramedian or oblique. The affected soft tissue and/or skeletal elements show a disturbed growth-pattern, resulting in more obvious or more severe deformities over the years. This underdevelopment of soft tissue and osseous structures occurs in three dimensions.

Satisfaction with facial appearance and its determinants in adults with severe congenital facial disfigurement: A case-referent study (Article)

2010-10-01T00:00:00Z

Background: Patients with severe congenital facial disfigurement have a long track record of operations and hospital visits by the time they are 18 years old. The fact that their facial deformity is congenital may have an impact on how satisfied these patients are with their appearance. This study evaluated the level of satisfaction with facial appearance of congenital and of acquired facially disfigured adults, and explored demographic, physical and psychological determinants of this satisfaction. Differences compared with non-disfigured adults were examined. Methods: Fifty-nine adults with a rare facial cleft, 59 adults with a facial deformity traumatically acquired in adulthood, and a reference group of 201 non-disfigured adults completed standardised demographic, physical and psychological questionnaires. Results: The congenital and acquired groups did not differ significantly in the level of satisfaction with facial appearance, but both were significantly less satisfied than the reference group. In facially disfigured adults, level of education, number of affected facial parts and facial function were determinants of the level of satisfaction. High fear of negative appearance evaluation by others (FNAE) and low self-esteem (SE) were strong psychological determinants. Although FNAE was higher in both patient groups, SE was similar in all three groups. Conclusion: Satisfaction with facial appearance of individuals with a congenital or acquired facial deformity is similar and will seldom reach the level of satisfaction of non-disfigured persons. A combination of surgical correction (with attention for facial profile and restoring facial functions) and psychological help (to increase SE and lower FNAE) may improve patient satisfaction.

Letters to the editor (Letter To Editor)

2010-07-01T00:00:00Z

The impact of nasal reconstruction following tumour resection on psychosocial functioning, a clinical-empirical exploration (Article)

2009-08-03T00:00:00Z

Objective: Total or partial nasal amputation following tumour resection is one of the more seevere facial disfigurements. Successful nasal reconstruction can therefore be regarded as restoring a patient's psychosocial health. The objective of this study, therefore, was to evaluate different determinants of patient's psychosocial functioning and their effect on patient satisfaction after nasal reconstruction. Methods: A cross-sectional study with a case-control study design was conducted. Level of satisfaction with nasal appearance and psychosocial functioning were assessed with validated questionnaires. Results: A total of 30 consecutive patients were recruited. They were treated between November 2001 and May 2005 for (sub)total nasal defects following radical tumour resection. For the control group 99 consented to participate. Social anxiety and avoidance were scored significantly higher within the patient group (p = 0.01). Patients cope significantly more passive than controls (p = 0.04). Self-esteem, levels did not differ significantly between patients and controls (p = 0.22). Determinants of satisfaction with nasal reconstruction were self-esteem (p = 0.0001), active coping strategy (p = 0.001), and passive coping strategy (p = 0.0001). Conclusion: Nasal reconstruction has an impact on psychosocial functioning of nasal reconstruction patients. In addition, self-esteem and coping strategy are important determinants of satisfaction with nasal reconstruction, and should be held in mind when treating a patient.

Distraction assisted treatment of a unilateral complex facial cleft (Article)

2009-07-01T00:00:00Z

Unilateral maxillary hypoplasia is a characteristic feature of an oblique facial cleft. This three-dimensional shortage of osseous structures and soft tissue becomes more prominent over the years and is difficult to correct. The authors describe a 17-year-old boy born with a unilateral nasomaxillary dysplasia and nasal dysplasia (Tessier type 1, 2, 3) who underwent a hemi-Le Fort III distraction with a rigid external distraction (RED) system. This distraction, in combination with initial peroperative advancement and retained with elastic traction with a facial mask, achieved a substantial horizontal improvement of the hemi-midface; this resulted in a better projection of the left cheek, infra-orbital rim, nasal ala, and improved occlusion. Owing to the underdevelopment of the maxilla and zygoma in all three dimensions, contour deformities remain. Creating several bone segments for multidirectional distraction would jeopardize vascularization of the bone. Good long-term planning is essential in these complicated cases, and more long-term results need to be assessed. The major reconstructive challenge for this complex pathology continues.

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene (Article)

2009-05-15T00:00:00Z

We describe a recessively inherited frontonasal malformation characterized by a distinctive facial appearance, with hypertelorism, wide nasal bridge, short nasal ridge, bifid nasal tip, broad columella, widely separated slit-like nares, long philtrum with prominent bilateral swellings, and midline notch in the upper lip and alveolus. Additional recurrent features present in a minority of individuals have been upper eyelid ptosis and midline dermoid cysts of craniofacial structures. Assuming recessive inheritance, we mapped the locus in three families to chromosome 1 and identified mutations in ALX3, which is located at band 1p13.3 and encodes the aristaless-related ALX homeobox 3 transcription factor. In total, we identified seven different homozygous pathogenic mutations in seven families. These mutations comprise missense substitutions at critical positions within the conserved homeodomain as well as nonsense, frameshift, and splice-site mutations, all predicting severe or complete loss of function. Our findings contrast with previous studies of the orthologous murine gene, which showed no phenotype in Alx3-/-homozygotes, apparently as a result of functional redundancy with the paralogous Alx4 gene. We conclude that ALX3 is essential for normal facial development in humans and that deficiency causes a clinically recognizable phenotype, which we term frontorhiny.

Measuring surgical outcomes in congenital craniofacial surgery: An objective approach (Article)

2007-01-01T00:00:00Z

Assessment of surgical outcome in congenital craniofacial malformations is necessary to evaluate treatment efficiency since the results of early surgery are influenced by surgical technique and timing. Available outcome measurements all have their limitations, especially for application in congenital craniofacial malformations. Therefore a new outcome measurement was developed, in which each facial unit is scored in a standardized way. For each facial unit, deformities of shape or contour, malposition and soft tissue involvement were evaluated, besides scoring for specific congenital malformations of that area. The final result was tested on pre- and postoperative photographs of patients with rare facial clefts and reliability and validity were demonstrated. The new developed instrument showed the ability to provide quantification of outcome. Because of its properties it can serve as an instrument to compare outcome between techniques, surgeons and centers in a more objective and standardized way. Copyright