Blepharo-canthal deformities in patients following craniofacial surgery

Functional problems and deformities of the eyes have become a major concern in the surgical treatment of ortital hypertelorism and craniofacial dysostosis, as experience with skeletal relocation for these disorders has been gained. Comprehensive preoperative and postoperative study and measurements of the bony orbits, the globes, the lids, the canthi, and the nose are necessary for the evaluation of present techniques and the design of alternative procedures. Some of the deformities of the blepharo-canthal complex are part of the congenital malformation. Other distortions, seen only postoperatively, are secondary to specific surgical maneuvers. Awareness of these primary and secondary factors has led to better soft tissue reconstruction at the time of the bony orbital translocations or the craniofacial disjunction. We describe the techniques which we have found especially useful in avoiding and correcting these postoperative blepharocanthal deformities.     

Lamellar split osteotomy: a new craniofacial technique

Craniofacial osteotomies have by convention been bilamellar translocations of the entire substance of the dysmorphic bone. This approach limits the surgeon by reducing the stable bone mass available for fixation, creating dependence on concave surfaces. Most important, it changes the bony topography that determines the preoperative plan. This paper presents a new craniofacial concept and technique used in 26 patients with various dysmorphic syndromes who were reconstructed by performing a lamellar split osteotomy. This technique maintains the internal lamella in its native position, thereby allowing it to act as a reference for the bony topography and providing a stable facial framework for rigid fixation. This interlamellar osteotomy has led to improved aesthetic results in the orthomorphic reconstructions of congenital and other deformities. It can be used in any aesthetic patient in whom contour changes or augmentation of form is desired. It is recommended as a preferred method for achieving quantitative contour improvement in patients over 3 years of age.     

Use of fast-setting hydroxyapatite cement for secondary craniofacial contouring

Patients who have previously had surgical correction of major craniofacial deformities will often have residual contour deformities they wish to have improved at a later date. The development of hydroxyapatite cement has simplified these procedures. The setting time is reduced to 5 to 8 minutes by mixing the cement with a phosphate-based solution, increasing the tensile strength, and maintaining the same biocompatibility and osseoconductivity. This study includes 48 patients who presented with a variety of residual contour irregularities secondary to a craniofacial congenital anomaly or a posttraumatic defect. All but one of the patients with congenital craniofacial conditions had their initial surgical correction performed by the senior author (Magee) and had regular follow-up visits. Variable amounts of hydroxyapatite cement were used according to the size of the defect to be corrected. Five patients had a postoperative complication: two infections, one seroma, one persistent swelling, and one drain retention. Patients were followed from 6 months to 3 years (mean, 1 year 5 months). Good results were achieved in 38 patients, acceptable results with minor asymmetries were seen in seven patients, and three other patients required a second intervention to obtain a better contour. Cranioplasty with fast-setting hydroxyapatite cement is a simple and reliable procedure, with a low complication rate. Attention to simple technical and operative principles can provide excellent results.     

The use of Champy miniplates for osteosynthesis in craniofacial deformities and trauma

Champy miniplates have been used in the treatment of craniofacial fractures and in osteotomies for correction of posttraumatic deformities, congenital craniofacial deformities, and secondary bony deformities due to pathologies such as hemangioma and neurofibroma. An additional use has been to stabilize free and vascularized bone grafts. The total number of cases reviewed were 50 (25 acute trauma, 4 vascularized mandible reconstruction, and 21 osteotomies of varied types). There were three infections, two in mandibular fractures that were comminuted and compound into the mouth and one in a compound comminuted fracture of the frontal and maxillary area that was judged to be infected when the plate was placed in position. Two plates have been obvious under the skin. No patient has requested plate removal. The advantages of plating in selected cases are decreased operating time, rigid fixation at surgery, good fixation of bone grafts, and the ability to remove intermaxillary fixation in children at the end of the procedure or within the first few postoperative days.     

Deep inferior epigastric perforator dermal-fat or adiposal flap for correction of craniofacial contour deformities

Craniofacial contour deformities are difficult to reconstruct. This article summarizes the authors' use of deep inferior epigastric perforator dermal-fat or adiposal flaps in eight patients with such deformities. Of these patients, three had traumatic craniofacial or facial deformities, one had congenital craniofacial deformity, two had hemifacial atrophy (one because of radiation), one had hemifacial microsomia, and one had localized frontonasal lipodystrophy. Stable restoration of the facial contour was achieved in all eight patients. The advantages of this flap are numerous. It has minimal donor-site morbidity, because the rectus abdominis muscle is preserved as a whole, and it accommodates pregnancy in female patients. Simultaneous elevation of this flap during preparation of the recipient site makes it possible to complete surgery in a shorter time than with the scapular flap. Furthermore, a considerable amount of the superficial or deep fatty layer can be removed primarily, making a bulky flap into a thinner one. This flap also allows the use of a large transverse abdominal ellipse of skin, fat, and Scarpa's fascia with abdominoplasty closure. Conversely, it requires a technically difficult dissection of the muscle perforator and skin grafting of donor defects in patients with a large dermal-fat flap. Also, additional minor operations may be necessary to reduce fat volume around the perforator. Ultimately, the deep inferior epigastric perforator adiposal flap seems to be suitable for craniofacial contouring surgery. It is especially indicated for use in children and female patients who are expecting to have children.     

Congenital nasal anomalies: a classification scheme

The purpose of this work was to develop a simple yet comprehensive classification scheme dedicated to congenital nasal anomalies. To date, no such classification system has been proposed and widely used. A 22-year retrospective review was performed. Two hundred sixty-one patients with congenital nasal anomalies were identified. From this extensive database, a systematic morphogenic classification system was devised. Congenital nasal deformities were classified into four categories. Type I, hypoplasia and atrophy, represents paucity, atrophy, or underdevelopments of skin, subcutaneous tissue, muscle, cartilage, and/or bone. Type II, hyperplasia and duplications, representing anomalies of excess tissue, ranging from duplications of parts to complete multiples, are categorized here. In the type III category, clefts, the comprehensive and widely utilized Tessier classification of craniofacial clefts is applied. Type IV deformities consist of neoplasms and vascular anomalies. Both benign and malignant neoplasms are found in this category.     

Craniosynostosis: an analysis of the timing, treatment, and complications in 164 consecutive patients

Treatment options for the craniosynostoses vary from conservative observation until completion of growth to radical remodeling in infancy. To further define the timing and type of treatment necessary in these complex disorders, we have retrospectively analyzed all patients operated on for this deformity during the past 12 years. One-hundred and sixty-four patients with craniosynostosis were analyzed and subgrouped into asymmetrical (predominantly unilateral) and symmetrical (bilateral) deformities, in addition to segregation by age and type of procedure performed. This was done recognizing that no deformity, like no normal human face, is truly symmetrical. Results of treatment were categorized on the basis of the need for additional surgery and varied from no refinements necessary (category I) to major reduplication of the initial procedure (category IV). Analysis of the data led us to conclude that excellent results can be expected in the asymmetrical deformities group treated in infancy by a unilateral approach. Similarly, for the mild symmetrical deformities, treatment at this time by bilateral orbital advancement gives satisfactory results in the majority of patients. By contrast, the more severe symmetrical groups treated in childhood have a high incidence of requiring secondary major reconstructions, and consideration should be given to delaying craniofacial surgery until age 7 or older, although earlier cranial surgery may be advisable.     

Scaling relationships between craniofacial sexual dimorphism and body mass dimorphism in primates: implications for the fossil record

Craniofacial remains (the most abundant identifiable remains in the fossil record) potentially offer important information about body size dimorphism in extinct species. This study evaluates the scaling relationships between body mass dimorphism and different measures of craniofacial dimorphism, evaluating taxonomic differences in the magnitude and scaling of craniofacial dimorphism across higher taxonomic groups. Data on 40 dimensions from 129 primate species and subspecies demonstrate that few dimensions change proportionally with body mass dimorphism. Primates show general patterns of greater facial vs. neurocranial and orbital dimorphism, and greater dimorphism in lengths as opposed to breadths. Within any species, though, different craniofacial dimensions can yield very different reconstructions of size dimorphism. There are significant taxonomic differences in the relationships between size and craniofacial dimorphism among primate groups that can have a significant impact on reconstructions of body mass dimorphism. Hominoids tend to show lower degrees of facial dimorphism proportional to size dimorphism than other primates. This in turn implies that strong craniofacial dimorphism in Australopithecus africanus could imply very strong body size dimorphism, conflicting with the relatively modest size dimorphism inferred from postcrania. Different methods of estimating the magnitude of size dimorphism from craniofacial measurements yield similar results, and yield comparatively low percent prediction errors for a number of dimensions. However, confidence intervals for most estimates are so large as to render most estimates highly tentative.     

Analysis of new Matrilin-1 gene variants in a case–control study related to dental malocclusions in Equus asinus

Prognathism and brachygnathism are craniofacial deformities that severely affect the health of human and vertebrates, such as donkeys. The multifactorial etiology of this disease makes the genetic analysis a powerful tool for its understanding and prevention of spreading these deformities.     

Efficacy of radioprotection in the prevention of radiation-induced craniofacial bone growth inhibition

It has been reported that radiotherapy-induced craniofacial deformities can occur in 66 to 100 percent of survivors of childhood head and neck cancers. Recent interest in the effectiveness of radioprotectors in the protection of normal tissue against radiation injury led us to investigate a possible role of radioprotection in the prevention of radiation-induced craniofacial bone growth inhibition. Therefore, the objective of this study was to use the radioprotective agent amifostine (Ethyol, WR-2721) as a probe to determine the effectiveness of radioprotection in the prevention of radiation-induced craniofacial bone growth inhibition after single-dose orthovoltage radiation to the infant rabbit orbital-zygomatic complex. Seven-week-old male New Zealand white rabbits were randomized into three groups (n = 10 each): group 1, 0 Gy (sham radiation); group 2, 35-Gy single-dose orthovoltage radiation; and group 3, 35-Gy single-dose orthovoltage radiation and amifostine (300 mg/kg intravenously, given 20 minutes before radiation). Serial radiographs and computed tomographic scans were obtained for cephalometric analysis, bone volume, and bone density measurements until skeletal maturity at 21 weeks. Significant (p < 0.05) reductions in orbital-zygomatic complex linear bone growth, bone volume, and bone density were observed after 35-Gy radiation compared with nonirradiated controls. No significant differences were noted between groups in cephalometric analysis of the nontreated (nonirradiated) left orbital-zygomatic complex, indicating no crossover effect from the radiation beam. However, pretreatment with amifostine, 20 minutes before 35-Gy radiation, resulted in significant (p < 0.05) preservation of linear bone growth, bone volume, and bone mineral density in the rabbit orbital-zygomatic complex compared with controls. This study demonstrated for the first time the effectiveness of a radioprotector in the prevention of radiation-induced craniofacial bone growth inhibition, and it paves the way for investigation into the pathogenic mechanism and prevention of radiotherapy-induced craniofacial deformities.     

Microorbitalism: a technique for orbital rim expansion

A simple technique for orbital aperture expansion to facilitate placement of ocular prostheses is described. Both superolateral and inferolateral orbital margins are released by means of a single burr hole craniectomy of the frontosphenoid bone behind the orbital process of the frontal bone. Vertical and horizontal marginal lengthenings are performed by a rotatory displacement of one bone segment alongside the other. The expanded osseous aperture is secured with wire and plate-and-screw fixation following a supraorbital rim craniectomy to allow an adequate fit. The result provides for easier access of ocular prostheses and tissue expanders. The method has been applied to a series of patients with microorbitalism due to unilateral or bilateral congenital anophthalmia over the past 3 years without complication and with excellent results. Three-dimensional re-formatted CT reconstructions of the craniofacial skeleton are shown preoperatively and postoperatively.     

Craniofacial anomalies in twins

Studies of twins provide insight into the relative contribution of genetic and environmental factors in the causality of structural anomalies. Thirty-five affected twin pairs were identified from a group of 1114 patients with congenital craniofacial deformities evaluated from 1972 to 1989. Forty-three of these 70 twins exhibited one or more craniofacial anomalies; these were analyzed for dysmorphic characteristics, zygosity, concordance, and family history. The anomalies were categorized into two groups: malformations and deformations. The malformations (n = 36) included hemifacial microsomia (n = 10), cleft lip and palate (n = 8), cleft palate (n = 4), rare facial cleft (n = 2), craniosynostosis (n = 2), Binder syndrome (n = 2), Treacher Collins syndrome (n = 2), craniopagus (n = 2), CHARGE association (n = 1), frontonasal dysplasia (n = 2), and constricted ears (n = 1). The deformations (n = 7) included plagiocephaly (n = 5), hemifacial hypoplasia (n = 1), and micrognathia (n = 1). Twenty-one monozygotic and 14 dizygotic twin pairs were identified. The concordance rate was 33 percent for monozygotic twins and 7 percent for dizygotic twins.(ABSTRACT TRUNCATED AT 250 WORDS)     

Cleft lip: unilateral primary deformities

The understanding and management of all aspects of unilateral cleft lip deformities continue to evolve. Just as we are entering the era of exciting advances in the understanding of the pathogenesis of craniofacial disorders, expansion of our understanding of the dynamic relationships of the structural and soft-tissue components of cleft deformities has assisted surgeons in achieving progressively improved and consistent outcomes for these patients. The anatomic and physiologic complexity of unilateral cleft lip deformities has been recognized for centuries, and generations of researchers have cumulatively contributed to our current understanding. This article examines the history, classification, anatomy, and controversies in the surgical management of unilateral cleft lip deformities, allowing surgeons to formulate a reasoned, longitudinal management plan for their patients on the basis of the available current data.     

Molecular control of facial morphology

We present a developmental perspective on the concept of phylotypic and phenotypic stages of craniofacial development. Within orders of avians and mammals, a phylotypic period exists when the morphology of the facial prominences is minimally divergent. We postulate that species-specific facial variations arise as a result of subtle shifts in the timing and the duration of molecular pathway activity (e.g., heterochrony), and present evidence demonstrating a critical role for Wnt and FGF signaling in this process. The same molecular pathways that shape the vertebrate face are also implicated in craniofacial deformities, indicating that comparisons between and among animal species may represent a novel method for the identification of human craniofacial disease genes.     

Perceived functional impact of abnormal facial appearance

Functional facial deformities are usually described as those that impair respiration, eating, hearing, or speech. Yet facial scars and cutaneous deformities have a significant negative effect on social functionality that has been poorly documented in the scientific literature. Insurance companies are declining payments for reconstructive surgical procedures for facial deformities caused by congenital disabilities and after cancer or trauma operations that do not affect mechanical facial activity. The purpose of this study was to establish a large, sample-based evaluation of the perceived social functioning, interpersonal characteristics, and employability indices for a range of facial appearances (normal and abnormal). Adult volunteer evaluators (n = 210) provided their subjective perceptions based on facial physical appearance, and an analysis of the consequences of facial deformity on parameters of preferential treatment was performed. A two-group comparative research design rated the differences among 10 examples of digitally altered facial photographs of actual patients among various age and ethnic groups with "normal" and "abnormal" congenital deformities or posttrauma scars. Photographs of adult patients with observable congenital and posttraumatic deformities (abnormal) were digitally retouched to eliminate the stigmatic defects (normal). The normal and abnormal photographs of identical patients were evaluated by the large sample study group on nine parameters of social functioning, such as honesty, employability, attractiveness, and effectiveness, using a visual analogue rating scale. Patients with abnormal facial characteristics were rated as significantly less honest (p = 0.007), less employable (p = 0.001), less trustworthy (p = 0.01), less optimistic (p = 0.001), less effective (p = 0.02), less capable (p = 0.002), less intelligent (p = 0.03), less popular (p = 0.001), and less attractive (p = 0.001) than were the same patients with normal facial appearances. Facial deformity caused by trauma, congenital disabilities, and postsurgical sequelae present with significant adverse functional consequences. Facial deformities have a significant negative effect on perceptions of social functionality, including employability, honesty, and trustworthiness. Adverse perceptions of patients with facial deformities occur regardless of sex, educational level, and age of evaluator.     

Identification of adult mineralized tissue zebrafish mutants

Zebrafish craniofacial, skeletal, and tooth development closely resembles that of higher vertebrates. Our goal is to identify viable adult zebrafish mutants that can be used as models for human mineralized craniofacial, dental, and skeletal system disorders. We used a large-scale forward-genetic chemical N-ethyl-nitroso-urea mutagenesis screen to identify 17 early lethal homozygous recessive mutants with defects in craniofacial cartilage elements, and 7 adult homozygous recessive mutants with mineralized tissue phenotypes including craniofacial shape defects, fused sutures, dysmorphic or missing skeletal elements, scoliosis, and neural arch defects. One mutant displayed both an early lethal homozygous phenotype and an adult heterozygous phenotype. These results extend the utility of the zebrafish model beyond the embryo to study human bone and cartilage disorders.     

Face off against ROS: Tcof1/Treacle safeguards neuroepithelial cells and progenitor neural crest cells from oxidative stress during craniofacial development

One‐third of all congenital birth defects affect the head and face, and most craniofacial anomalies are considered to arise through defects in the development of cranial neural crest cells. Cranial neural crest cells give rise to the majority of craniofacial bones, cartilages and connective tissues. Therefore, understanding the events that control normal cranial neural crest and subsequent craniofacial development is important for elucidating the pathogenetic mechanisms of craniofacial anomalies and for the exploring potential therapeutic avenues for their prevention. Treacher Collins syndrome (TCS) is a congenital disorder characterized by severe craniofacial anomalies. An animal model of TCS, generated through mutation of Tcof1, the mouse (Mus musculus) homologue of the gene primarily mutated in association with TCS in humans, has recently revealed significant insights into the pathogenesis of TCS. Apoptotic elimination of neuroepithelial cells including neural crest cells is the primary cause of craniofacial defects in Tcof1 mutant embryos. However, our understanding of the mechanisms that induce tissue‐specific apoptosis remains incomplete. In this review, we describe recent advances in our understanding of the pathogenesis TCS. Furthermore, we discuss the role of Tcof1 in normal embryonic development, the correlation between genetic and environmental factors on the severity of craniofacial abnormalities, and the prospect for prenatal prevention of craniofacial anomalies.