Validation of the Polish Version of the Washington 4-Digit Diagnostic Code for the Assessment of Fetal Alcohol Spectrum Disorders. / Walidacja polskiej wersji Kwestionariusza Waszyngtonskiego do Oceny Spektrum Poalkoholowych Wrodzonych Zaburzen Rozwojowych.

OBJECTIVES: The aim of this paper is a quantitative assessment of FASD facial phenotype in the Polish population using the Polish version of the 4-Digit Diagnostic Code. METHODS: The study covered 2 groups of children: 30 children aged 4-7 and 30 children aged 8-11 with a facial phenotype characteristic for the Fetal Alcohol Syndrome (FAS). The control group consisted of 60 children (4-11 years old) developing normally. We compared 3 facial features (small palpebral fissure lengths, smooth philtrum and thin upper lip). The repeatability, conformity and diagnostic accuracy of particular dysmorphic features of the study were assessed. RESULTS: Obtained values for palpebral fissure were "poor", "good" and "very good", for philtrum "good" and "very good" and for upper lip "good" and "very good". As for conformity, values for palpebral fissure were "moderate" and 'good", for philtrum - "good" and for upper lip also "good". In the experimental group, the FAS diagnostic criteria were met by 13 subjects, partial FAS criteria were met by 37 subjects and the criteria of static encephalopathy with no FAS phenotype were met by 2 subjects. None of the subjects in the control group met these criteria. CONCLUSIONS: The pictorial scale for the assessment of the facial dysmorphic features proved to be a useful tool in the clinical diagnostics of FAS in the Polish conditions. Due to the problems associated with the measurement of the palpebral fissure, it is necessary to verify the normal growth charts for the Polish population.

A low-cost method of craniofacial distraction osteogenesis.

AIM: Distraction osteogenesis is an effective treatment modality for the correction of craniofacial deformities. The cost of these devices is significant and may preclude routine use of these distractors in developing countries. Hence, distraction osteogenesis was performed using medical equipment that was readily available in any hospital at minimal cost. PATIENTS AND METHODS: From 2008 to 2013, a retrospective study was performed on infants and neonates who underwent primary distraction for craniofacial abnormalities. Midface or mandibular distraction was performed because of respiratory impairment and/or globe exposure. The apparatus used included Steinmann pins, stainless steel wires, attachment bolts, orthopaedic pulleys, string and intravenous bags for weights. For midface distraction, a transzygomatic pin was inserted, and a transmandibular pin or a cerclage wire was inserted into the mandible through the symphysis or body of the mandible and connected to the pulley system. RESULTS: Distraction osteogenesis was performed on five patients - three mandibular distractions (Pierre Robin sequence) and two transfacial distractions (Apert syndrome/Pfeiffer syndrome type III). The mean age, duration of distraction and duration of consolidation at the time of distraction was 60.5 days, 18.6 days and 16.4 days, respectively. The mean length of distraction achieved was 12 mm. Common complications observed were pin loosening, pressure necrosis of the skin and uneven pull. A major disadvantage was the longer hospital stay required. CONCLUSION: The African method of distraction is effective, easy and cost effective and could be used in third-world hospitals where surgical expertise or expensive distraction sets are not freely available.

Optimizing Hybrid Occlusion in Face-Jaw-Teeth Transplantation: A Preliminary Assessment of Real-Time Cephalometry as Part of the Computer-Assisted Planning and Execution Workstation for Craniomaxillofacial Surgery.

BACKGROUND: The aesthetic and functional outcomes surrounding Le Fort-based, face-jaw-teeth transplantation have been suboptimal, often leading to posttransplant class II/III skeletal profiles, palatal defects, and "hybrid malocclusion." Therefore, a novel technology-real-time cephalometry-was developed to provide the surgical team instantaneous, intraoperative knowledge of three-dimensional dentoskeletal parameters. METHODS: Mock face-jaw-teeth transplantation operations were performed on plastic and cadaveric human donor/recipient pairs (n = 2). Preoperatively, cephalometric landmarks were identified on donor/recipient skeletons using segmented computed tomographic scans. The computer-assisted planning and execution workstation tracked the position of the donor face-jaw-teeth segment in real time during the placement/inset onto recipient, reporting pertinent hybrid cephalometric parameters from any movement of donor tissue. The intraoperative data measured through real-time cephalometry were compared to posttransplant measurements for accuracy assessment. In addition, posttransplant cephalometric relationships were compared to planned outcomes to determine face-jaw-teeth transplantation success. RESULTS: Compared with postoperative data, the real-time cephalometry-calculated intraoperative measurement errors were 1.37 ± 1.11 mm and 0.45 ± 0.28 degrees for the plastic skull and 2.99 ± 2.24 mm and 2.63 ± 1.33 degrees for the human cadaver experiments. These results were comparable to the posttransplant relations to planned outcome (human cadaver experiment, 1.39 ± 1.81 mm and 2.18 ± 1.88 degrees; plastic skull experiment, 1.06 ± 0.63 mm and 0.53 ± 0.39 degrees). CONCLUSION: Based on this preliminary testing, real-time cephalometry may be a valuable adjunct for adjusting and measuring "hybrid occlusion" in face-jaw-teeth transplantation and other orthognathic surgical procedures.

Cephalometric assessment of craniofacial dysmorphologies in relation with Msx2 mutations in mouse.

OBJECTIVES: To determine the role of Msx2 in craniofacial morphology and growth, we used a mouse model and performed a quantitative morphological characterization of the Msx2 (-/-) and the Msx2 (+/-) phenotype using a 2D cephalometric analysis applied on micrographs. MATERIALS AND METHODS: Forty-four three-and-a-half-month-old female CD1 mice were divided into the following three groups: Msx2 (+/+) (n = 16), Msx2 (+/-) (n = 16), and Msx2 (-/-) (n = 12). Profile radiographs were scanned. Modified cephalometric analysis was performed to compare the three groups. RESULTS: Compared with the wild-type mice, the Msx2 (-/-) mutant mice presented an overall craniofacial size decrease and modifications of the shape of the different parts of the craniofacial skeleton, namely the neurocranium, the viscerocranium, the mandible, and the teeth. In particular, dysmorphologies were seen in the cochlear apparatus and the teeth (taurodontism, reduced incisor curvature). Finally contrary to previous published results, we were able to record a specific phenotype of the Msx2 (+/-) mice with this methodology. This Msx2 (+/-) mouse phenotype was not intermediate between the Msx2 (-/-) and the wild-type animals. CONCLUSION: Msx2 plays an important role in craniofacial morphogenesis and growth because almost all craniofacial structures were affected in the Msx2(-/-) mice including both intramembranous and endochondral bones, the cochlear apparatus, and the teeth. In addition, Msx2 haploinsufficiency involves a specific phenotype with subtle craniofacial structures modifications compared with human mutations.

Screening for symptoms of obstructive sleep apnea in children with severe craniofacial anomalies: assessment in a multidisciplinary unit.

OBJECTIVE: To assess the incidence of airway obstruction symptoms and the presence of obstructive sleep apnea in children with severe craniofacial anomalies by a proactive screening program using a standard questionnaire and cardiorespiratory polygraphy. PATIENTS AND METHODS: Children with severe craniofacial anomalies referred to our paediatric airway unit from February 2001 to June 2011 were eligible to be included in this retrospective, single centre study. Symptoms of airway obstruction were proactively investigated using the shorter version of the Pediatric Sleep Questionnaire (PSQ). Obstructive sleep apnea was assessed by means of cardiorespiratory polygraphy. Demographic data and reason for referral were also recorded. Primary outcomes were the prevalence of symptoms of airway obstruction and OSA. RESULTS: 44 children (24 girls) with severe craniofacial anomalies (15 Crouzon, 13 Apert, 9 Goldenhar, 5 Treacher-Collins, 2 Pfeiffer) were included, at a mean age of 5 years (range 8 months to 14 years). Reason for referral was routine follow up in 30 patients and overt OSA symptoms and signs in the remaining 14. PSQ results showed symptoms of airway obstruction in 82% of patients, being snoring the most frequent symptom (64.1%) followed by apneas (33.3%). Polygraphic studies showed inconclusive results in 8 children (18.2%), normal apnea-hypopnea index (AHI) in 16 (36.4%), mild obstructive sleep apnea in 9 (20.4%), moderate in 4 (9.1%) and severe obstructive sleep apnea in 7 (15.9%). CONCLUSIONS: Children with craniofacial anomalies have a high prevalence of symptoms of airway obstruction and obstructive sleep apnea that support a proactive screening strategy in this highly selected population.

Facing the World: audit of activity 2002-2010.

BACKGROUND: Craniofacial anomalies, although uncommon, can have considerable effects on the individual, their family and society.(1-4) They carry with them a large morbidity and require a highly specialized, multidisciplinary approach to treatment.(5) Facing the World (FTW), was founded in 2002, to offer facial reconstructive surgery to children with complex, craniofacial anomalies with no prospect of local treatment, from developing countries anywhere in the world. METHODS: We present an 8-year audit of the cases treated by FTW, where children are brought from their own countries to the UK for treatment. Patient selection takes place prior to their arrival in the UK by a multidisciplinary team. Specifically the condition has to be correctable to a degree that justifies the risks involved with the surgery, and the disruption to the child and their family. RESULTS: Since inception, FTW has evaluated more than 300 cases and provided treatment in the UK for over 24 cases from 18 different countries. We present our range of cases and complications. We discuss our complication rate of 28% and mortality rate of 4% (1 case). CONCLUSIONS: Key to the sustainability of FTW is the development of local healthcare infrastructure within the developing countries to facilitate eventual local management of the more straightforward cases and follow up of these patients by well-trained medical staff. By establishing these programs, FTW aims to not only change these children's lives but to raise awareness, and help to expand the global craniofacial network whereby in the future, satellite partners will be present to help manage these conditions locally. LEVEL OF EVIDENCE: III.

3D volume assessment techniques and computer-aided design and manufacturing for preoperative fabrication of implants in head and neck reconstruction.

Cases in subdisciplines of craniomaxillofacial surgery--corrective jaw surgery, maxillofacial trauma, temporomandibular joint/skull base, jaw reconstruction, and postablative reconstruction-illustrate the ease of use, cost effectiveness, and superior results that can be achieved when using computer-assisted design and 3D volumetric analysis in preoperative surgical planning. This article discusses the materials and methods needed to plan cases, illustrates implementation of guides and implants, and describes postoperative analysis in relation to the virtually planned surgery.

A phenotypic assessment tool for craniofacial microsomia.

BACKGROUND: Craniofacial microsomia is one of the most common conditions treated by craniofacial teams. However, research regarding the cause of this condition or the surgical outcomes of treatment is scant. This is attributable to the lack of diagnostic criteria and the wide phenotypic spectrum. Standardized description of the craniofacial malformations associated with craniofacial microsomia is a necessary first step for multicenter, interdisciplinary research into this complex condition. METHODS: The authors used the previously published pictorial Orbit, Mandible, Ear, Nerve, and Soft tissue-Plus classification scheme to assign a phenotypic severity score to patients with craniofacial microsomia treated at the Craniofacial Center at Seattle Children's Hospital. The authors modified the tool based on feedback from multidisciplinary focus groups. The authors also developed a standardized photographic protocol to facilitate assessment of patients using two-dimensional images. RESULTS: Feedback from focus groups was synthesized to create a phenotypic assessment tool for craniofacial microsomia based on the pictorial Orbit, Mandible, Ear, Nerve, and Soft tissue-Plus classification system. This tool allows for more comprehensive description of the phenotype of craniofacial microsomia and is found to be effective for clinical use within a multidisciplinary craniofacial team. In addition, the photographic protocol for patients with craniofacial microsomia allows for classification from a two-dimensional photographic database, thereby facilitating research using archived photographs. CONCLUSIONS: The phenotypic assessment tool for craniofacial microsomia protocol provides a simple and standardized method for practitioners and researchers to classify patients with craniofacial microsomia. We anticipate that this tool can be used in multicenter investigational studies to evaluate the cause of this condition, its natural history, and comparative effectiveness research.

Utility scores for facial disfigurement requiring facial transplantation [outcomes article].

BACKGROUND: Controversy exists as to whether the benefits of facial transplantation outweigh the risk of continuous immunosuppression. Utility scores [range, 0 (death) to 1 (perfect health)] are a standardized tool with which to objectify health states or diseases and can help answer such controversy. METHODS: An Internet-based utility assessment study using visual analogue scale, time trade-off, and standard gamble was used to obtain utilities for facial disfigurement requiring facial transplantation from a sample of the general population and medical students at McGill University. Average utility scores were compared using t test, and linear regression was performed using age, race, and education as independent predictors of each of the utility scores. RESULT: A total of 307 people participated in the study. All measures (visual analogue scale, time trade off, and standard gamble) for facial disfigurement (0.46 + or - 0.02, 0.68 + or - 0.03, and 0.66 + or - 0.03, respectively) were significantly different (p < 0.001) from the corresponding ones for monocular blindness (0.62 + or - 0.02, 0.83 + or - 0.02, and 0.82 + or - 0.02, respectively) and binocular blindness (0.33 + or - 0.02, 0.62 + or - 0.03, and 0.61 + or - 0.03, respectively). Age was inversely proportional to the utility scores in all groups (p < 0.01), decreasing a utility score of 0.006 for every increase in year of age. CONCLUSION: A sample of the general population and medical students, if faced with facial disfigurement, would undergo a face transplant procedure with a 34 percent chance of death and be willing to trade 12 years of their life to attain perfect health.

Why do we behave as we do?

It is important for surgeons to have insight into themselves, their life stories, and the rationales they use to convince themselves that their actions are unselfish and well motivated. The battle between Philanthropia and Philotechnica was recognized by Hippocrates and is still a source of internal strife for many surgeons: the need to perform an operation that they are poorly equipped to do offset against the knowledge that it could be better done by someone else. In the treatment or referral for treatment of children with craniosynostosis and craniofacial syndromes, appropriate referrals are often not made or are made only after some problem has occurred as a result of surgical intervention. Several instances of children receiving extensive surgery for wrongly diagnosed craniosynostosis are explored. The thesis is that only by knowing our own internal motivations can we avoid falling into a posture that is good for our own egos and pocketbooks but bad for our patients.

Concordance of three methods for palpebral fissure length measurement in the assessment of fetal alcohol spectrum disorder.

BACKGROUND: The assessment of individuals at risk of fetal alcohol spectrum disorders (FASD) includes the assessment of the craniofacial features that can result from prenatal alcohol exposure. The characteristic facial features of fetal alcohol syndrome (FAS) consist of short palpebral fissures, smooth or flattened philtrum, and thin vermilion border of the upper lip. There are various methods for measuring palpebral fissure lengths (PFLs) and it can be challenging for clinicians to obtain reproducibly accurate measurements. The development of the FAS Facial Photographic Analysis Software by the University of Washington FAS Diagnostic and Prevention Network (DPN) is one such means of improving the accuracy and reproducibility in these measurements. OBJECTIVES: To assess concordance across three methods of PFL measurement: 1) a clear plastic handheld ruler, 2) blunt precision slide calipers, and 3) digital photometric photography (FAS Facial Photographic Analysis Software). METHODS: The PFLs of 50 children (referred to the Clinic for Alcohol and Drug Exposed Children, CADEC) at Children's Hospital in Winnipeg and 50 adults from the University of Manitoba Medical Class of 2008 were measured once by a single clinician, using each of the three methods. The frequency and magnitude of discordance was tabulated. No method served as a gold-standard. RESULTS: The PFLs ranged from 20 to 32 mm. The ruler and photometric measures were concordant in 42% of the subjects. When measures were discordant, half the ruler measures were larger and half were smaller. The caliper measure was concordant with the photometric and ruler measures on 18% and 24% of the subjects, respectively. When measures were discordant, the caliper measures were almost always larger than the photometric and ruler method (0.5 to 2.5 mm larger, 83% and 95% of the time, respectively). The presence of epicanthal folds did not appear to be a factor that contributed to discordance. CONCLUSION: This study demonstrates the challenge in measuring the PFL, even when a single trained clinician is involved. Factors that can contribute to error include the subject's willingness to cooperate, ability to tolerate placement of the tool close enough to the eye to obtain an accurate measure, and precision of the tool. When controlling for the clinician performing the measurements and the quality of the photographs, the ruler and photometric measures were most concordant. The caliper measures tended to measure larger than the ruler and photometric measures.

Assessment of dysphagia in infants with facial malformations.

In infants with facial malformation, dysphagia is frequent and can lead to respiratory and nutritional complications whatever the phenotype. The aim of our study was to assess the severity and mechanisms of dysphagia in infants with facial malformations in order to guide therapeutic management. Forty-two newborn infants with dysphagia and recognizable malformation patterns other than isolated Pierre Robin sequence had: (1) needle electromyography (EMG) of muscles of the face, tongue, and soft palate; (2) two-channel EMG during bottle feeding; and (3) esophageal manometry (EM). The results were compared by clinical dysphagia-grading groups and by age at cessation of enteral feeding. Although micrognathia (86%) and cleft or high-arched palate (76%) were common, the key clinical finding that correlated with the likelihood of respiratory complications was glossoptosis (p<0.01). EMG signs of denervation correlated with respiratory complications (p<0.05) and the duration of enteral feeding (p<0.01). EMG during bottle feeding showed disturbed motor organization at the pharyngeal level in 27 of 37 patients. The severity of pharyngeal incoordination correlated with the duration of enteral feeding (p<0.025). All 21 patients examined by EM had dysfunction at the esophageal level. Thus, in the assessment of upper digestive tract dysfunction, our clinical grading system, EMG, and EM yield convergent information that is relevant to the management of dysphagic infants with facial malformations. Much of the information is obtainable only from EMG.

Focus on the physical assessment of the infant with Stickler syndrome.

Stickler syndrome is an autosomal dominant, genetic connective tissue disorder characterized by ocular, orofacial, auditory, and skeletal anomalies. The diagnosis of Stickler syndrome is often missed in the newborn period and diagnosed as simply Pierre Robin sequence. For these patients, complications and disabilities could be lessened by further analysis of the family history.Neonatal caregivers are responsible for the immediate care of the newborn with Pierre Robin sequence. The prudent healthcare profession will explore the origin of the condition to provide optimal comprehensive care to the infant and family. This article reviews the physical findings of Stickler syndrome including differentiation between similar syndromes. A systematic review of physical findings is included along with treatment options.

Facial aesthetics: 2. Clinical assessment.

UNLABELLED: The clinical ability to alter dentofacial form requires an understanding of facial aesthetics. This is vital for any clinician involved in treatment that will alter a patient's dentofacial appearance, whether through orthodontics, facial growth modification, corrective jaw surgery or aesthetic dentistry. Part 1 of this article covered the historical and theoretical aspects of facial aesthetics and their importance in contemporary dentofacial treatment. Part 2 covers important aspects of the interview and clinical assessment of patients requiring alterations in their dentofacial appearance, including guidelines used in the assessment of facial proportions and symmetry. CLINICAL RELEVANCE: These articles cover the theoretical and clinical aspects of facial aesthetics required by clinicians involved in the treatment of dentofacial deformity.

Cochlear implants in children with craniofacial syndromes: assessment and outcomes.

The aim of this retrospective study was to review the outcomes for children with craniofacial syndromes who had received a cochlear implant. The group comprised four children (three girls, one boy) aged between 3.3 and 10.1 years (mean 6.3 years) at time of implantation with the Cochlear CI-22M device. Two children had the CHARGE association. one had Goldenhar's syndrome and one had brachio-oculo-facial syndrome. All had full electrode insertion at time of surgery. At follow-up, three of the children demonstrated benefit in detection, recognition and identification of environmental sounds, and they continued to gain receptive spoken language skills, although none had intelligible speech. The group required careful mapping and higher levels of electrical stimulation of the implant compared to normal child implantees. Stimulation of the facial nerve was a problem with one child. The pre-implantation assessment of these children requires extensive interdisciplinary discussion and careful radiological investigation. Cases should be carefully selected. Parents should receive realistic counselling about outcomes and the time commitment necessary, as habilitation of these children can take twice as long as that of children without additional special needs. Post-implantation, these children continue to require well-coordinated medical and interdisciplinary management.

Assessment of the newborn with dysmorphic features.

Accurate assessment of all newborns is essential for identifying those who will need more thorough examination, medical or support services, or family counseling. External assessment of dysmorphic features offers clues to the presence of internal anomalies. This article describes a systematic approach to the assessment of dysmorphic features in the newborn.

The organization and delivery of craniofacial health services: the state of the art.

The dominant organizational structure providing care for cleft palate and other craniofacial conditions is the health care team. Various types of health care team organization are profiled, including intradisciplinary, multidisciplinary, and interdisciplinary teams. Effective team-based care delivery has the ability to address the fragmentation and dehumanization that can result when a variety of specialists and disciplines are required to provide assessment and technical care. A team's leadership and its hierarchy of professional authority can be expected to affect its ability to function effectively. Health reform and managed care are considered for their impact on the team and on the doctor-patient relationship. Trends in team regionalization, quality assurance, outcomes research, and consumer advocacy are reviewed. The cleft palate and craniofacial team is profiled as an organizational model that is being affected by the forces of health system change.

Objective techniques for craniofacial assessment: what are the choices?

The approach to an individual with unusual facial appearance has traditionally involved a subjective assessment coupled with a few craniofacial measurements. Our ability to describe facial morphology has improved in recent years through the development of new techniques such as computerized tomography, magnetic resonance imaging, ultrasound studies, and stereoscopic imaging. However, the relatively simpler techniques of anthropometry, cephalometry, and photogrammetry, developed prior to the advent of microchips and imaging software, continue to provide unique advantages not afforded by these technically more sophisticated methods. These objective methods should enhance pattern recognition, particularly in rare syndromes, and allow for earlier diagnosis.

Characteristics of an oral and maxillofacial radiology department. Report of the ad hoc Department Characteristics Committee of the American Academy of Oral and Maxillofacial Radiology.

Oral and maxillofacial radiology is a dynamic and multifaceted discipline that plays a critical role in patient care, the education of general dentists and dental specialists, and the academic health of the dental school. Diagnostic and treatment advances in temporomandibular joint disorders (TMD), implants trauma and orthognathic surgery, and craniofacial abnormalities depend heavily on conventional and advanced imaging techniques. Oral and maxillofacial radiology contributes to the education of pre- and post-doctoral dental students with respect to biomedical and clinical knowledge, cognitive and psychomotor skills, and the professional and ethical values necessary to properly prescribe, obtain, and interpret radiographs. The development of an active and successful oral and maxillofacial radiology department, division, or section requires the committment of institutional resources. This document may serve as a guide to dental schools committed to excellence in oral and maxillofacial radiology.