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Background: Max Muenke included midface hypoplasia as part of the clinical syndrome caused by the Pro250Arg FGFR3 mutation that now bears his name. Murine models have demonstrated midface hypoplasia in homozygous recessive mice only, with heterozygotes having normal midfaces; as the majority of humans with the syndrome are heterozygotes, we investigated the incidence of midface hypoplasia in our institution's clinical cohort., Methods: We retrospectively reviewed all patients with a genetic and clinical diagnosis of Muenke syndrome from 1990 to 2014. Review of clinical records and photographs included skeletal Angle Class, dental occlusion, and incidence of orthognathic intervention. Cephalometric evaluation of our patients was compared to the Eastman Standard Values., Results: 18 patients met inclusion criteria - 7 females and 11 males, with average follow-up of 11.2 years (1.0-23.1). Cephalometric analysis revealed an average sella-nasion-A point angle (SNA) of 82.5 (67.8-88.8) and an average sella-nasion-B point angle (SNB) of 77.9 (59.6-84.1). The SNA of our cohort was found to be significantly different from the Eastman Standards (p = 0.017); subgroup analysis revealed that this was due to the mixed dentition group which had a higher than average SNA. 12 patients were noted to be in Class I occlusion, 4 in Class II malocclusion, and 2 in Class III malocclusion. Only one patient (6%) underwent orthognathic surgery for Class III malocclusion., Conclusions: While a part of the original description of Muenke syndrome, clinically significant midface hypoplasia is not a common feature. This data is important, as it allows more accurate counseling of patients and families., Level of Evidence: III., (Copyright © 2016 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.)

This study was the first empirical investigation of body image dissatisfaction in male cosmetic surgery patients. Thirty men completed two body image measures prior to their initial consultation. Results were compared to the norms for each of the measures and with a sample of 30 women seeking similar cosmetic procedures. Results indicated that patients did not demonstrate greater dissatisfaction with their overall appearance than men in a normative sample. However, when asked about the bodily feature they were considering for surgery, they reported significantly greater levels of dissatisfaction than the normative sample. As compared to male patients, female patients reported a greater investment in their physical appearance. Implications of these findings are discussed with respect to the nature of body image dissatisfaction and the relevance of body image in the psychology of male plastic surgery patients.

Velocardiofacial syndrome and DiGeorge syndrome have not previously been associated with central nervous system degeneration. We report a 34 year old man who presented for neurological evaluation with cerebellar atrophy of unknown aetiology. On historical review, he had neonatal hypocalcaemia, an atrial septal defect, and a corrected cleft palate. His physical examination showed the characteristic facies of velocardiofacial syndrome as well as dysmetria and dysdiadocho-kinesia consistent with cerebellar degeneration. Molecular cytogenetic studies showed a deletion of 22q11.2. This man is the first reported patient with the association of a neurodegenerative disorder and 22q11.2 deletion syndrome.

In conclusion, the management of facial involvement in JRA, Romberg disease, and scleroderma is dictated by the degree of severity of the disease, age of onset, and length of activity. Functional occlusal abnormalities are best addressed through a team approach consisting of initial orthodontics followed by orthognathic surgery if needed. In all types of scleroderma, surgical facial reconstruction is best delayed until the disease is quiescent for at least a year. The ideal option for facial skeletal and soft-tissue augmentation has not yet been realized. Careful surgical planning and choice of grafts, flaps, or implants are critical to obtain the desired result.

Proper surgical planning for aesthetic facial skeletal surgery requires of the surgeon not only intimate knowledge of available techniques but also an understanding of how and when to apply those techniques. To this end, proper facial form analysis is essential. In this introduction we have attempted to describe the elements of such an analysis, realizing that much remains to be learned about how the bone and soft tissue interact. In many ways the soft tissue--bone relations remain the unexplored area in aesthetic skeletal surgery. The further delineation of these relations by the use of anthropometry, laser light scanning, ultrasound, CT, and MRI remains an open area for investigation. The potential is enormous for using these data to study how bone and soft-tissue relationships combine to create facial form and how this form changes with both surgery and normal aging.

Psychosocial evaluations of patients undergoing surgery for congenital craniofacial anomalies are being conducted preoperatively and postoperatively to document functioning prior to and following surgery. Our findings to date indicate that presurgically younger patients, those between 6 and 13, fare better than those 14 years and over. The former, for the most part, appear to be functioning adequately and test within normal range on standardized psychometric measures. The latter are more prone to social isolation and problems in self-concept and mood state. Postoperative evaluations are reported only for the younger group because of the small sample size of the older. Overall postoperative adjustment appears improved on several psychometric tests. The majority of patients and families are pleased with outcome. Improvement in appearance postoperatively as rated by independent judges has not reached statistical significance; however, there are significant correlations between changes in appearance and changes on several measures including self-concept and trait anxiety. This finding would tend to support the contention that improvement in appearance brought about by craniofacial surgery is associated with improvement in psychosocial adjustment.

A survey of our first 50 patients having craniofacial surgery was done. An attempt was made to determine the impact of facial deformity on social function for both the patient and his family and how function was altered by surgical correction. This was accomplished by a uniform series of questions. All patients were at least one year postoperative. The results emphasize that facial deformity played a dominant role in patients' lives prior to surgery and that surgical intervention led to improved social functioning in a number of areas. Meaningful data was collected on three groups of patients: 11 adults, 18 adolescents, and 17 children. Changes perceived were strikingly different in the three groups. Eight-seven percent of all patients would make the decision to have surgery again, and at least 50 percent had objective evidence of improved function. However, the survey also suggests that the extreme stress produced by the treatment may create family problems for which support is necessary.

Four geographically widely separated medical centres with a primary interest in cranio-facial surgery present their combined complications to illustrate the dangers and unsolved problems of this surgery. There wre 149 cases with 2 deaths and 3 other life threatening situations (infections). Approximately 60% of the patients had no complications (90/149). Secondary corrections are often necessary to obtain the desired result or correct problems produced by the surgery. The complexity and rarity of the surgery and supporting disciplines is such that in the interest of the patient and the speciality concentration of this surgery in a few centres is desirable.

The operative repair of craniofacial defects presents the surgeon with critical problems regarding airway management. Thirty-seven per cent of our series of 100 children operated upon for a variety of cranofacial deformities had some difficulty in airway management. Those patients with mandibular dysostoses and those requiring midface advancement (Le Fort III) had the highest incidence of airway problems. Our suggested management of the airway is described with emphasis upon the importance of close cooperation between the plastic surgeon, otolaryngologist and anesthesiologist.

Facial malformations have generally been associated with spinal anomalies, but this report reviews patients with specific facial abnormalities and attempts to document accompanying spinal anomalies. The results indicate that the most common types of facial malformations vary predictably in their influence on spinal or other musculoskeletal abnormalities. Apert and Goldenhaar syndromes are associated with significant spinal anomalies.

Structural form analysis identifies the major structural members of the middle and lower face through their high- and low-light areas, provides measurements and relationships between the key points, and explains the angular relationships in constructing a geometric form corresponding to these members. The six key points define the superior and inferior and anterior and posterior angles. The angles and planes then lead to a geometric form of the lower and middle face. The final construction provides a framework for examining the facial form and making aesthetic judgments which lead directly to surgical decisions. A study of 50 Caucasian women ages 22 to 30 was performed. Specific patient examples with analyses are provided.

Cephalometric analyses of twenty-one patients with Crouzon's disease were undertaken to correlate the cranial base abnormalities to altered facial morphology. Angular deformities of the cranial base, i.e., the vertical sloping of the anterior cranial fossa and the angulation of the cranial base flexure were found to correlate well to observed exorbitism and midface retrusion , respectively. Normal craniofacial growth and clinical implications of these data are discussed.

The possibilities for radical craniofacial restructuring have increased dramatically in the past 6 years with the development of craniofacial surgery. The field developed from a background of patients with major craniofacial birth defects allowing orderly planning and expansion to correction of a multitude of other craniofacial structural problems. The procedures concentrate upon changing the skeletal structures using extensive subperiostial dissection of soft tissue, and adding bone to fill in areas of deficiency. There are three grades of complexity in craniofacial procedures. After extensive soft tissue sub-periostial stripping about the orbits and upper face, the simplest form consists of onlay bone grafts. The next most complicated involves osteotomies to shift the face into a more normal position. In its most complicated form, abnormal proportions of bone are removed and the orbits or cranium are shifted into a new or normal position. We have had experience with 69 patients since September, 1972. Thirty-six have had intracranial procedures. Infection has been the most serious problem, and there have been no instances of death or blindness. A number of lesser problems occur. Future applications of craniofacial surgery are appearing with great frequency as more experience is gained with its uses. It has particular application in acute and late reconstruction of patients with traumatic defects about the face. Preventive osteotomies are an area with great potential, by releasing stenotic areas of bone and allowing the developing brain to mold the upper face and orbits. There is also applicability in surgery of tumors about the craniofacial structure and in cosmetic surgery.

Major craniofacial abnormalities can be considered as a group for purposes of operative planning. Known normal relations define what is abnormal and indicate goals to be achieved with the craniofacial operative procedures. The principle syndromes with significant facial structural changes amenable to such surgical corrective procedures are craniofacial stenoses, hypertelorism, mandibulofacial dysostoses, median facial clefts, residua of encephaloceles, and trauma. Deformities primarily involve the middle and upper thirds of the face. In planning, abnormal relations and structures must be clearly defined utilizing patient examination, x-rays, dental study models, and photography. Standards of norm indicating goals for the corrective procedure are also based on studies using these tools, data from previous publications, and measurements directly from skulls. Precise measurements about the orbits and maxillary-mandibular relation are the keystone for planning. Soft tissue, nose, and ear alterations are based on already widely known concepts of norm and symmetry. Bony interocular distance, medial intercanthal distance, height and width at the orbital rim of the bony orbits, orbital shape, orbital axis, and orbital volume as determined by measurement with an exophthalmometer are useful in determining what is to be done about the orbits. Cribiform plate level, anterior cranial base, length and contour, and size of the zygomatic arches are important dimension considerations. Paranasal sinus size and location is important. These considerations are essential prior to any major facial structural changes.