Sarah L. Versnel

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

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.

Satisfaction with facial appearance and its determinants in adults with severe congenital facial disfigurement: a case-referent study

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.

Adults with congenital or acquired facial disfigurement: impact of appearance on social functioning

This study evaluates the impact of congenital and acquired facial disfigurement on social functioning in adults and whether this differs from adults without facial disfigurement. Moreover, the predictive value of objective and subjective appearance on social functioning is explored. Fifty-nine adults with severe congenital facial disfigurement, 59 adults with traumatically acquired facial deformities in adulthood, and 120 adults without facial disfigurement, completed the Scale for Interpersonal Behaviour, Social Avoidance and Distress Scale, and Visual Analogue Scale for facial appearance satisfaction. The impact of congenital and acquired facial disfigurement on social functioning in adults is similar and significantly differed from the reference group. The level of stress evoked by interpersonal behaviour, and social anxiety and distress were not significantly different between the groups. Only the patients subjective appearance was a predictor of social functioning. Avoiding stress caused by stigmatization and uncertainty about reactions of others, leads to less frequent interpersonal behaviour in adults with facial disfigurement. The fact whether the deformity is congenital or acquired in adulthood has no influence on social functioning. Patients satisfaction with facial appearance is more important than the objective severity of the deformity; in this context realistic expectations of the patient considering additional surgery are important.

Long-term psychological functioning of adults with severe congenital facial disfigurement.

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. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

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

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.

Measuring Surgical Outcomes in Congenital Craniofacial Surgery: An Objective Approach

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.

Distraction assisted treatment of a unilateral complex facial cleft.

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.

Patients and professionals have different views on online patient information about cleft lip and palate (CL/P)

Parents of children with a cleft lip and/or palate (CL/P) and patients with CL/P actively search for online information about CL/P. The quality of this information has not been sufficiently evaluated. The aim of this study was to define quality criteria for online information about CL/P and assess the quality of frequently accessed websites. Patients, parents, and professionals were equally involved in all stages of this study. A literature review was performed to obtain known quality criteria for online information. These criteria were prioritized by patients, parents, and professionals. The most important criteria were used to rate the quality of four websites on CL/P. Forty-two quality items were extracted from the literature. Patients, parents, and professionals agreed on the importance of 16 of these items. New groups of patients, parents, and professionals assessed four websites on CL/P. Although the groups were like-minded in their overall assessment of the quality of the websites, distinct differences emerged between the groups in relation to certain items. This study shows the importance of patient participation in healthcare research, as well as a feasible approach to do so. Involving patients in composing online health information will set different priorities, which is necessary in establishing high quality information.

Defense mechanisms in congenital and acquired facial disfigurement: a clinical-empirical study.

Abstract It is of clinical interest to investigate the degree to which patients with facial disfigurement use defense styles. Therefore, 59 adults born with rare facial clefts, 59 patients with facial deformities acquired at an adult age, and a reference group of 141 adults without facial disfigurements completed standardized questionnaires. There was a significant difference between the group with and the group without disfigurements on immature defense styles, with the disfigured group using the immature style more frequently. There was a trend for the nondisfigured group to use more mature defense styles. No difference between congenital and acquired groups was seen on individual types of defense style. Self-esteem had the strength to differentiate mature and immature defense styles within our disfigured groups. The association of low self-esteem and the utilization of immature defense styles suggests that professional help may tailor treatment on discussing immature defense style and problems triggering or maintaining this style.

Letter to the Editor. Raised intracranial pressure and cognitive delay in craniosynostosis

TO THE EDITOR: In their perspective piece published in the Broca’s Area section of JNS: Pediatrics, Hayward et al.6 describe and debate a lack of causal evidence linking the finding of raised intracranial pressure (ICP) and neurocognitive impairment (NCI) in children with syndromic craniosynostosis (Hayward R, Britto J, Dunaway D, et al: Connecting raised intracranial pressure and cognitive delay in craniosynostosis: many assumptions, little evidence. J Neurosurg Pediatr 18:242–250, August 2016), the implication being that raised ICP may not be the major contributor to NCI. Our thoughts on this matter, and the consequences for screening and treatment of these children, are discussed below.