Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report.

RATIONALE: Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome is a very rare multisystem disorder, which shows malformations of the central nervous system, ears, eyes, teeth, and skeleton that was first reported in 1991. Only a few cases that sporadically occurred have been reported worldwide. The research investigating the pathogenesis and patterns of CODAS inheritance is still ongoing. There is no satisfactory treatment for this rare genetic disease yet. Due to the lack of curative medical treatment, rehabilitation could play a major role in treatment for genetic disease. PATIENT CONCERNS: To our best knowledge, the 2 children described in this study are the only CODAS syndromes siblings reported in the world so far. These Korean siblings show highly distinctive features consisting of developmental delay, cataracts, vulnerability to tooth decay, epiphyseal dysplasia, and anomalous ears. DIAGNOSES: CODAS syndrome. INTERVENTIONS: Comprehensive long-term rehabilitation treatment during 5 years. OUTCOMES: We report on the progress of the comprehensive long-term rehabilitation treatment at 5-year follow-up. Their fine motor and language skills development improved similarly to that of same-aged children. We observed the positive effect of rehabilitation on the quality of life. LESSONS: The therapy of genetic disorders is challenging for pediatric neurologists and pediatric physiatrists. We suggest that rehabilitation is the best treatment currently available for this genetic disease that yields satisfactory therapeutic effect.

Availability of cosmetic treatment using novel cosmetics-based material on patients with craniofacial concavity.

PURPOSE: Patients treated with maxillofacial prosthetics often experience emotional problems because of the remaining facial skin concavity such as a surgical scar. In such cases, cosmetic treatment can potentially correct their skin tone imperfections and deformities. This study aimed to evaluate the clinical availability of novel cosmetics-based material for craniofacial small concavity by initiating a cosmetic treatment in a preliminary case. METHODS: Eighteen patients with aesthetic problems such as craniofacial deformities, small defects, and concavities on their faces underwent cosmetic treatment that was performed by makeup practitioners. Data were collected from the patient's charts and a survey questionnaire. A visual analog scale was used to conduct a survey regarding the satisfaction levels of the patients following cosmetic treatment with a novel cosmetics-based material. The cosmetic treatment was performed for a concavity on the left midface of a 67-year-old woman with partial maxillectomy. The novel cosmetics-based material was manufactured from a semi-translucent oil base. RESULTS: The satisfaction level of the patient increased after undergoing the cosmetic treatment. Regarding clinical applications, the novel cosmetics-based material can help reduce their cosmetic disturbance and restore the small deformity. CONCLUSIONS: These results suggest that the cosmetic treatment with the novel cosmetics-based material can be used as a subsidiary method for facial prostheses or an independent new method for correcting patients' small craniofacial concavity and for reducing visible deformity.

The role of plastic surgeon in complex cephalic malformations. Our experience.

AIM: Our aim is focused on the field of action of plastic surgery in the cephalic malformation and on description of the surgical indications and techniques for their correction. MATERIAL OF STUDY: We looked at 27 patients from 2006 to 2012 with cephalic district deformities. All patients underwent surgical and rehabilitative treatments. RESULTS: After a median follow-up from one to five years, in most cases we reached both morphological and functional reconstruction, alone or in a surgical team together with other surgical disciplines. DISCUSSION: The correction of craniofacial malformations makes use of a surgical discipline particularly demanding, which must associate a basic surgical training with a learning techniques specific to the area and a knowledge of craniofacial malformation. CONCLUSIONS: The surgical treatment of craniofacial malformations can be seen only through a joint neurosurgical and plastic-maxillo-facial surgery, guided by knowledge of the malformation, under the close supervision of anesthetists and pediatricians. This surgery is not limited to remodel the morphology but has its bases on the recovery of the functions, maintained by rehabilitation treatment.

Fat grafts supplemented with adipose-derived stromal cells in the rehabilitation of patients with craniofacial microsomia.

BACKGROUND: Although first reports of the clinical use of adipose-derived stromal cells suggest that this approach may be feasible and effective for soft-tissue augmentation, there is a lack of randomized, controlled clinical trials in the literature. Thus, this study aimed to investigate whether a faster protocol for isolation of adipose-derived stromal cells and their use in combination with fat tissue improve the long-term retention of the grafts in patients with craniofacial microsomia. METHODS: Patients with craniofacial microsomia (n = 14) were grafted either with supplementation of adipose-derived stromal cells (experimental group) or without supplementation of adipose-derived stromal cells (control group). The number of viable cells isolated before and after the supplementation of the grafts was calculated, and these cells were examined for mesenchymal cell surface markers using flow cytometry. Computed tomography was performed to assess both hemifaces preoperatively and at 6 months postoperatively. RESULTS: The average number of viable cells isolated before and after the supplementation of the grafts was 5.6 × 10 and 9.9 × 10 cells/ml of fat tissue (p = 0.015). Flow cytometric analysis revealed that the adipose-derived stromal cells were positive for mesenchymal cell markers (>95 percent for CD73 and CD105). Surviving fat volume at 6 months was 88 percent for the experimental group and 54 percent for the control group (p = 0.003). CONCLUSION: These results suggest that this strategy for isolation and supplementation of adipose-derived stromal cells is effective, safe, and superior to conventional lipoinjection for facial recontouring in patients with craniofacial microsomia. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, II.

Tessier number 4 bilateral orbito-facial cleft: a 26-year follow-up.

Orbito-facial number 4 clefts are the rarest craniofacial clefts and only a few cases have been reported. We report a case of a complete bilateral Tessier number 4 cleft, and our approach to surgical correction. We analyse the patient's treatment plan over a 26-year follow-up period. We comment on the age at which the first surgical procedure is commonly performed with or without a primary bone graft, as well as the use of the facial plasty technique with interdigitating Z-plasty flaps and rotation-transposition flaps. Closure of the cleft can constitute an emergency when the patient's globe is exposed.

[Psychological problems related to visible differences in appearance: developmental perspectives].

This article reviewed research from the developmental perspective on psychological problems associated with congenital Visible Differences in appearance, such as a cleft lip and/or palate, or a port wine stain. People with such congenital Visible Differences, often experience psychological problems from an early age. At each developmental stage, they report distinct psychological problems because of their Visible Difference such as negative self concept, and social difficulties such as teasing, difficulty obtaining a job, difficulty making friends. To prevent these various psycho-social problems, the needs for liaison support by psychologists, school teachers, medical doctors and nurses from their early age are discussed. Further research in this area is needed to understand their problems and construct support for each their developmental stage.

The art of coping with a craniofacial difference: helping others through "Positive Exposure".

Finding ways to cope with social stigmatization is an important aspect of achieving adaptation for people living with visible genetic differences. This study describes the way individuals with craniofacial differences use an innovative photography and video experience with Positive Exposure (PE), a non-profit organization based in New York City, as a way to cope with their conditions. Thirty-five individuals between 12 and 61 years of age participated in this study. We administered surveys comprised of open-ended qualitative questions and quantitative measures designed to assess self-esteem, perceived stigma, and hopefulness. Data for this analysis was generated from the written questionnaires and interview transcripts. Most participants reported high levels of self-esteem and hopefulness, suggesting that they were relatively well adapted to their condition. Almost all participants described experiences of stigmatization throughout their lives. However, participants demonstrated their ability to implement a variety of coping strategies to manage stigma. "Helping others" emerged as a prominent strategy among participants, aiding in the often lifelong process of adapting to their genetic difference. PE was described as an avenue through which participants could reach out to individuals and society at large, helping them adapt further to their condition. "Helping others" may also benefit individuals with craniofacial differences who do not consider themselves to be well adapted to their condition. Health care providers can collaborate with PE, advocacy groups and other community or support groups to identify additional ways individuals with craniofacial differences can help themselves by reaching out to others.

Can't they like me as I am? Psychological interventions for children and young people with congenital visible disfigurement.

This paper describes the psychological challenges for children and young people with a congenital visible disfigurement. These challenges are outlined in a developmental framework and case histories are used to illustrate a range of interventions. The model underlying assessment and intervention moves away from dysfunction and disability and outcomes are defined by psychological strengths, resilience and coping strategies. For those living with a visible disfigurement, who needs rehabilitation?

Facially disfigured children--dedicated approach and rehabilitation.

Facial disfigurement following congenital anomalies or acquired defects due to accidents or scars results in mental trauma and other related consequences. A multidisciplinary team approach with special importance to rehabilitation is required in handling such patients.

Visible difference amongst children and adolescents: issues and interventions.

Whether present at birth or acquired later in life, a visible difference (disfigurement) can have considerable psychological ramifications for children and adolescents. Whilst many young people adapt to the demands placed upon them and appear relatively unaffected, others report difficulties including adverse effects on body image, quality of life, self-esteem and difficulty with social encounters. This review examines the issues experienced by those affected, summarizes the factors identified as exacerbating or ameliorating any difficulties, then considers the particular pressures associated with developmental stages and the issues for family members. The current provision of care, the potential benefit of psychosocial interventions and the challenges faced by researchers in this area are explored.

Eficacia del tratamiento con ortesis craneal para la corrección de la plagiocefalia postural / No disponible

Se presenta el caso de un lactante de 3 meses de edad con plagiocefalia posicional secundariaa permanencia prolongada en decúbito supino. Se planteó la siguiente pregunta clínica:en niños con plagiocefalia posicional, ¿el tratamiento ortésico craneal es más eficaz quela fisioterapia y los cambios posturales –solos o en combinación– para conseguir la resolucióncompleta de la deformidad? Se efectuó una búsqueda bibliográfica en TRIP y MEDLINEcon los descriptores “plagiocephaly” y “Plagiocephaly, Nonsynostotic”. Se recuperaron tresdocumentos: una revisión sistemática, un informe de evaluación de tecnologías sanitarias yuna serie de casos prospectiva. No se recuperaron ensayos clínicos aleatorizados que compararanambas intervenciones. De la lectura crítica de la escasa evidencia disponible se concluyeque es adecuado iniciar el tratamiento de la plagiocefalia posicional mediante cambios alternativosde la posición de la cabeza (asociado o no a fisioterapia si existe además tortícoliscongénita), reservando en todo caso la ortesis craneal para casos refractarios a estas medidas

It is described the case of a 3 months old infant suffering from positional plagiocephalysecondary to supine decubitus long stay. The following clinical query was raised: in infantswith positional plagiocephaly, cranial orthosis is more efficient than physiotherapy and positionalchanges - one of them or combined –to achieve the complete solving of the deformity?Bibliographic search in TRIP and MEDLINE was carried out with the descriptors “plagiocephaly”and ”Plagiocephaly, Nonsynostotic”. There were retrieved three documents: a systematicreview, an evaluation report on sanitary technologies and a prospective series of cases.There were not retrieved any randomised clinical trial comparing both proceedings. From thecritical appraisal of the scarce evidence found we conclude that it is adequate to begin positionalplagiocephaly treatment with alternative changes of position (associated or not to physiotherapyif there is congenital torticollis also present), keeping back cranial orthosis for theresilient cases

Prosthodontic and psychological factors in treating patients with congenital and craniofacial defects.

This article addresses treatment of patients with various types of congenital defects, including partial and total anodontia, hypohydrotic ectodermal dysplasia, dentinogenesis imperfecta, and cleft lip and palate. The psychosocial aspects of these patients and rehabilitation with removable, fixed, and implant-supported prostheses are discussed. The factors to be considered are altered anatomy, lack of teeth or malformed teeth, teeth in abnormal positions, lack of facial growth, and altered arch development. The short- and long-term treatment of patients in these categories is discussed.

[Experiences with a new plate-like implant system (Ti-Epiplating System) for rehabilitation of orbital and midfacial defects]. / Erfahrungen mit einem subperiostalen Plattensystem aus Titan ("Ti-Epiplating-System") zur epithetischen Rehabilitation von Mittelgesichts- und Orbitadefekten.

BACKGROUND: Since Tjellstrom introduced in 1977 percutaneous osseointegration, the importance of osseointegrated implants has increased in the head and neck region. Implants and craniofacial surgery technology have been permanently improved and the use of extraoral osseointegration has expanded considerably. The surgical reconstruction of the exenterated orbit provides often only poor aesthetic results. Therefore the rehabilitation of complex midfacial structures is an indication for osseointegrated retained facial prostheses. METHODS AND MATERIAL: The international literature has been reviewed concerning the topic of osseointegration for the retention of orbital and midfacial prostheses. A new plate-like implant system is introduced. We report about our experiences with the "Ti-Epiplating System". DISCUSSION: The "Ti-Epiplating System" is available since 2001. For every location in the head and neck there exists a specially shaped plate. The "Ti-Epiplating System" is fixed subperiostally with normal bone screws, the same as used in traumatology. In cases of extended resections with less bone substance left, the application is simplified. The osseointegration time is reduced to a minimum of 6 weeks. Postoperative radiation is possible. CONCLUSION: The improved application of the "Ti-Epiplating System" is beneficial in the reconstruction of extended craniofacial defects with osseointegrated implants.

[The meaning of team work in the rehabilitation of people with congenital craniofacial malformation]. / O significado do trabalho em equipe na reabilitação de pessoas com malformação craniofacial congênita.

This study aimed to understand the meaning of teamwork of rehabilitation professionals in craniofacial anomalie. It was carried out a phenomenological analysis for contemplating the understanding and interpretation of the sense considering the subject. Twelve professionals from different areas were interviewed, guided to the subject: What does work in a team on the rehabilitation of craniofacial anomalies mean to you? These themes were brought up: training for the task, difficulty in working with a team, relationship with patient and family, work conditions and the professional insertion in the team. The analysis sought to reflect the phenomenon engendering convergences and divergences to express the differences and continuous learning.

O significado do trabalho em equipe na reabilitação de pessoas com malformação craniofacial congênita / El significado del trabajo en equipo en la rehabilitación de la persona con malformación congénita craneofacial / The meaning of team work in the rehabilitation of people with congenital craniofacial malformation

Este estudo objetivou compreender o significado do trabalho em equipe dos profissionais de reabilitação em anomalias craniofaciais. Realizou-se análise fenomenológica por contemplar a compreensão e interpretação do sentido considerando o sujeito. Entrevistou-se 12 profissionais de diferentes áreas, norteadas pela questão: O que significa para você trabalhar em equipe na reabilitação de anomalias craniofaciais? Resgatando-se os temas: Capacitação para o trabalho, Dificuldade para trabalho em equipe, Relação com paciente e família, Condições de trabalho e A inserção do profissional na equipe. A análise visou refletir o fenômeno engendrando convergências e divergências destacando a explicitação das diferenças e aprendizado contínuo.

This study aimed to understand the meaning of teamwork of rehabilitation professionals in craniofacial anomalie. It was carried out a phenomenological analysis for contemplating the understanding and interpretation of the sense considering the subject. Twelve professionals from different areas were interviewed, guided to the subject: What does work in a team on the rehabilitation of craniofacial anomalies mean to you? These themes were brought up: training for the task, difficulty in working with a team, relationship with patient and family, work conditions and the professional insertion in the team. The analysis sought to reflect the phenomenon engendering convergences and divergences to express the differences and continuous learning.

Este estudio tuvo como objetivo entender el significado del trabajo en equipo de los profesionales de rehabilitación en anomalías craneofaciales. Ocurrió análisis fenomenológico para contemplar la comprensión e interpretación del sentido que consideraba el tema. Fueron entrevistados 12 profesionales de diversas áreas, orientados por la pregunta: ¿Qué significa para usted trabajar en equipo en la rehabilitación de personas con anomalías craneofaciales. Se rescataron los temas: Entrenando para el trabajo, dificultad para el trabajo en equipo, la relación con el paciente y familia, las condiciones del trabajo y la inserción del profesional en el equipo. El análisis intentó reflejar el fenómeno que engendraba convergencias y divergencias para expresar las diferencias y el aprendizaje continuo.

The treatment of the positional plagiocephaly with a new thermoplastic orthotic device.

INTRODUCTION: An increasing number of infants presenting with posterior cranial asymmetry are referred to the paediatric neurosurgeon for clinical evaluation. Most of these cranial dysmorphisms cannot be due to lambdoidal sinostosis, since they originate from pre- (intrauterine constraint) or postnatal (prematurity, torticollis, sleeping position) predisposing factors that have deformed the cranial vault. In the literature there is broad consensus about the conservative management of this nonsynostotic plagiocephaly by means of "positional therapy" or "orthoplasty moulding" with cranial helmets or bands. Some reports can be found about the effectiveness of so-called dynamic orthotic cranioplasty (DOC) to improve the cranial asymmetry. TECHNICAL NOTE: In order to simplify the manufacturing procedure and improve the modulation of the corrective forces, we have designed a new orthotic device (thermoplastic orthotic device, TOD) using thermoplastic materials that can be moulded directly on the infant's head. CONCLUSION: With this technique it is no longer necessary to take any cranial impressions and the orthotic device can be easily remodelled, ensuring perfect adaptability of the device to the cranial vault throughout the entire treatment. Moreover, the superior flexibility of this orthosis allows modulation of the corrective forces.

[Treatment of non-synostotic, pediatric skull deformities with dynamic head orthosis]. / Behandlung nichtsynostotischer, kindlicher Schädeldeformitäten mit dynamischen Kopforthesen.

In all craniofacial deformities the differential diagnosis between synostotic and non-synostotic conditions must be made. While the first group is usually subject to intracranial surgical intervention, the treatment of non-synostotic deformities is the subject of controversial discussion. Often associated with premature birth, restrictive intrauterine environment or torticollis, these conditions; also defined as positional deformations, can lead to severe plagiocephalic head shapes. Dynamic orthotic cranioplasty is a conservative method of treating these deformities in early childhood by means of an individually fabricated orthotic head band. The principle is that dynamic pressure is applied to prominent parts while leaving space for growth in depressed areas. In accordance with this principle, various deformities can be addressed. Through clinical, anthropometric and radiographic evaluation it has been shown that dynamic orthotic cranioplasty can correct positional deformation of the cranial vault, skull base and upper face with no relapse following treatment. It must be emphasised that the method is simple, easy to handle and very effective when treatment starts within the first 6 months of life. Therefore, its potential should be recognised by paediatricians and craniofacial surgeons.