A Standard Set of Outcome Measures for the Comprehensive Appraisal of Cleft Care.

Care of the patient with cleft lip and/or palate remains complex. Prior attempts at aggregating data to study the effectiveness of specific interventions or overall treatment protocols have been hindered by a lack of data standards. There exists a critical need to better define the outcomes-particularly those that matter most to patients and their families-and to standardize the methods by which these outcomes will be measured. This report summarizes the recommendations of an international, multidisciplinary working group with regard to which outcomes a typical cleft team could track, how those outcomes could be measured and recorded, and what strategies may be employed to sustainably implement a system for prospective data collection. It is only by agreeing on a common, standard set of outcome measures for the comprehensive appraisal of cleft care that intercenter comparisons can become possible. This is important for quality-improvement endeavors, comparative effectiveness research, and value-based health-care reform.

Infant Mandibular Distraction for Upper Airway Obstruction: A Clinical Audit.

BACKGROUND: Mandibular distraction osteogenesis (MDO) is an effective method of treating upper airway obstruction (UAO) in micrognathic infants. The short-term outcomes include relief of UAO, avoidance of tracheostomy, and prompt discharge from hospital. However, it is a significant surgical procedure with potential associated morbidities. This study describes a cohort of infants managed using MDO over a twelve-year period. METHODS: A retrospective chart review was undertaken for children who had MDO before the age of 5 years between 2000 and 2012. This was followed by a clinical review of the same cohort specifically looking for dental anomalies, nerve injuries, and scar cosmesis. RESULTS: Seventy-three children underwent MDO at a mean age of 2 months [interquartile range (IQR), 1.7-4.2] for nonsyndromic infants and 3.3 months (IQR, 2.1-7.4) for those with syndromes. Infants were discharged from hospital, on average, 15 days after procedure. After MDO, of the 9 who were previously tracheostomy dependent, 5 (56%) were decannulated within 12 months and none of the nontracheostomy-dependent children required further airway assistance. The majority of children required supplemental feeding preoperatively but, 12 months postoperatively, 97% of the nonsyndromic infants fed orally. Thirty-nine children (53%) were reviewed clinically [median age, 5.1 y (IQR, 3.9-6.5)] with 18 being syndromic. Many of the mandibular first permanent and second primary molars had developmental defects, but there was a low rate of neurosensory deficit and good scar cosmesis. CONCLUSIONS: This study contributes further to the evidence base underpinning the management of micrognathic infants with UAO.

Simple bone cyst of the mandibular condyle.

Simple bone cysts (SBCs) are benign lesions often found in the long bones of children between their first and second decades. They occasionally occur in the mandible but rarely in the mandibular condyle. A case of a 7-year-old female child with an increasing enlargement of the left mandibular condyle is presented. A 2 cm × 3 cm lytic lesion was explored and curetted through an intraoral vestibular incision and proved to be an SBC. Postoperative recovery was uncomplicated with remodeling of the condylar observed at 3 years follow-up.

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.

Auriculocondylar syndrome is a rare craniofacial disorder comprising core features of micrognathia, condyle dysplasia and question mark ear. Causative variants have been identified in PLCB4, GNAI3 and EDN1, which are predicted to function within the EDN1-EDNRA pathway during early pharyngeal arch patterning. To date, two GNAI3 variants in three families have been reported. Here we report three novel GNAI3 variants, one segregating with affected members in a family previously linked to 1p21.1-q23.3 and two de novo variants in simplex cases. Two variants occur in known functional motifs, the G1 and G4 boxes, and the third variant is one amino acid outside of the G1 box. Structural modeling shows that all five altered GNAI3 residues identified to date cluster in a region involved in GDP/GTP binding. We hypothesize that all GNAI3 variants lead to dominant negative effects.

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

The 22q11.2 deletion syndrome (22q11DS) is thought to be a contiguous gene syndrome caused by haploinsufficiency for a variable number of genes with overlapping function during the development of the craniofacial, pharyngeal and cardiac structures. The complexity of genetic and developmental anomalies resulting in 22q11DS has made attributing causation to specific genes difficult. The CRKL gene resides within the common 3-Mb region, most frequently affected in 22q11DS, and has been shown to play an essential role in the development of tissues affected in 22q11DS. Here, we report the characterisation of a mouse strain we named 'snoopy', harbouring a novel Crkl splice-site mutation that results in a loss of Crkl expression. The snoopy strain exhibits a variable phenotype that includes micrognathia, pharyngeal occlusion, aglossia and holoprosencephaly, and altered retinoic acid and endothelin signalling. Together, these features are reminiscent of malformations occurring in auriculocondylar syndrome and agnathia-otocephaly complex, 2 conditions not previously associated with the CRKL function. Comparison of the features of a cohort of patients harbouring small 22q11.2 deletions centred over the CRKL gene, but sparing TBX1, highlights the role of CRKL in contributing to the craniofacial features of 22q11DS. These analyses demonstrate the central role of Crkl in regulating signalling events in the developing oropharyngeal complex and its potential to contribute to dysmorphology.

The role of distraction osteogenesis in the management of craniofacial syndromes.

Distraction osteogenesis (DO) has been established as a useful technique in the correction of skeletal anomalies of the long bones for several decades. However, the use of DO in the management of craniofacial deformities has been evolving over the past 20 years, with initial experience in the mandible, followed by the mid-face and subsequently, the cranium. This review aims to provide an overview of the current role of DO in the treatment of patients with craniofacial anomalies.

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

Auriculocondylar syndrome (ACS) is a rare, autosomal-dominant craniofacial malformation syndrome characterized by variable micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic "question-mark" ear malformation. Careful phenotypic characterization of severely affected probands in our cohort suggested the presence of a mandibular patterning defect resulting in a maxillary phenotype (i.e., homeotic transformation). We used exome sequencing of five probands and identified two novel (exclusive to the patient and/or family studied) missense mutations in PLCB4 and a shared mutation in GNAI3 in two unrelated probands. In confirmatory studies, three additional novel PLCB4 mutations were found in multigenerational ACS pedigrees. All mutations were confirmed by Sanger sequencing, were not present in more than 10,000 control chromosomes, and resulted in amino-acid substitutions located in highly conserved protein domains. Additionally, protein-structure modeling demonstrated that all ACS substitutions disrupt the catalytic sites of PLCB4 and GNAI3. We suggest that PLCB4 and GNAI3 are core signaling molecules of the endothelin-1-distal-less homeobox 5 and 6 (EDN1-DLX5/DLX6) pathway. Functional studies demonstrated a significant reduction in downstream DLX5 and DLX6 expression in ACS cases in assays using cultured osteoblasts from probands and controls. These results support the role of the previously implicated EDN1-DLX5/6 pathway in regulating mandibular specification in other species, which, when disrupted, results in a maxillary phenotype. This work defines the molecular basis of ACS as a homeotic transformation (mandible to maxilla) in humans.

Tonsilloliths appearing as multiple opacities on panoramic imaging: case report.

Tonsilloliths are dystrophic calcifications that can form in tonsillar crypts. They can be asymptomatic or a component of tonsillitis. This article presents a case of tonsilloliths that appeared on a panoramic image as multiple opacities.

Repair of critical size defects in the rabbit calvarium with the use of a novel scaffold material.

A number of materials have been implanted into skull defects to determine if improved healing outcomes can be achieved. In some instances, packing or implanting bone-inducing alloplasts into a standardized skull defect results in better healing than an untreated defect. AlloDerm is a skin derived acellular collagen membrane and has characteristics that are known to be effective in promoting bone growth. It has not been previously investigated for use in cranial bone healing. The aim of the investigation was to determine if implanting this novel scaffold into skull defects will improve the quality of bone repair. Six rabbits received AlloDerm grafts into critical-sized calvarial defects. The rabbits were sacrificed at two months and the specimens examined histologically and radiographically. At the time of sacrifice, it was found that while bony growth had commenced at the margins of the defect and as isolated islands within the graft, there did not appear to be a major benefit in using the material described.

Prenatal and postnatal management of congenital granular cell tumours: a case report.

Congenital granular cell tumour is a rare, benign, soft tissue lesion of the oral cavity. Large or multiple lesions can cause mechanical obstruction of the oral cavity and may result in prenatal polyhydramnios, and postnatal feeding and respiratory problems.We present a case in which prenatal diagnostic imaging was used in the successful management of an infant with a large congenital granular cell tumour.

Complete correction of severe scaphocephaly: the Melbourne method of total vault remodeling.

BACKGROUND: A new method of total calvarial remodeling for correcting significant scaphocephaly is described, and experience with the first 30 consecutive patients is presented. METHODS: Thirty consecutive patients (22 boys and eight girls) with moderate to severe scaphocephaly who underwent total calvarial remodeling using the Melbourne technique were analyzed retrospectively. Mean age at surgery was 7.5 months (range, 4 to 18 months). All had significant frontal and occipital deformities, bitemporal narrowing, a low cranial index, an anteriorly located vertex, and a narrow posteroinferiorly sloping posterior cranium. Clinical photographs, computed tomographic imaging, and cranial index were evaluated preoperatively and postoperatively. A sufficient follow-up period in 17 patients enabled the measurement of changes in cranial indices. RESULTS: A dramatic improvement in head shape was confirmed subjectively by clinical examination and photographs and, in 17 patients, objectively by analyses of the cranial indices. In these 17 patients, mean preoperative cranial index was 64.6 percent preoperatively (range, 56 to 69.3 percent) and increased to a mean of 77.5 percent postoperatively (range, 72 to 81 percent). The mean increase in cranial index was 12.9 percent (range, 9.5 to 19 percent). Among the 30 patients, overall complications were major in one patient (3.3 percent) (presumed air embolus) and minor in three (10 percent). CONCLUSIONS: The Melbourne technique of total vault remodeling consistently achieves a virtually normal head shape. After analysis of the first 30 cases, the authors recommend this as their technique of choice for severe scaphocephaly when the full constellation of deformities is present.

[Mandibular distraction osteogenesis in the treatment of obstructive sleep apnea syndrome in children with micrognathia].

OBJECTIVE: To evaluate the treatment of obstructive sleep apnea syndrome (OSAS) in children with congenital micrognathia using mandibular distraction osteogenesis and to discuss the advantages and disadvantages of this approach. METHODS: 6 patients (4 males, 2 females) had undergone mandibular distraction osteogenesis, 12 distraction devices were placed through extraoral incision for bilateral distraction. The mean age of treatment was 1 year and 9 months (range 4 months to 9 years). Every patient had been evaluated pre and postoperatively with cephalometry. The period of consolidation was 4 - 11 weeks. The period of follow-up was from 2 to 10 months. RESULTS: The average distraction distance was 19.2 mm (range 15 to 25 mm). The osteotomy and distraction processes were smooth in all the cases, the osteogenesis was good, without infection and other complications. The posterior airway space was increased from averaged 4.5 mm preoperatively to 10. 1mm after surgery. Five children had normal respiration and sleep restored with naso-pharyngeal airway removal or tracheostomy decannulation. One patient is to receive a planned second stage of distraction with a horizontal vector. The results were stable without relapse during a follow-up period of 2 to 10 months. CONCLUSIONS: Application of mandibular distraction osteogenesis is an important component and effective in the treatment of OSAS and permits mandibular advancement in the younger child. As more experience is gained with distraction osteogenesis in the treatment of children with OSAS, the role of distraction will become better defined.

[Distraction osteogenesis in patients with syndromic midface retrusion--a primary experience].

OBJECTIVE: To study the feasibility of midface distraction for correction of severe syndromic Four consecutive patients with severe syndromic midface retrusion underwent midface retrusion. METHODS: distraction osteogenesis. The patients(three girls and one boy) aged from 4 to 12 years. Two were with Crouzon syndrome, one with Apert and one with Marfan syndrome. One was treated with Le Fort III external distraction, two with Le Fort III internal distraction, and the other with monobloc internal distraction. The distraction devices were activated on the fourth postoperative day at 1 mm per day. RESULTS: All patients completed the distraction as activated on the fourth postoperative day at 1 mm per day. Results was planned. Successful advancement of 8 to 20 mm was obtained at the occlusal level in all patients as measured by cephalograms. The facial appearance was significantly improved,especially in the orbits and the upper part of the nose. Follow-up from 4 months to one year demonstrated that the face was symmetrical. All patients obtained This study shows that although midface distraction osteogenesis needs to be satisfactory results. CONCLUSIONS: This study shows that although midface distraction osteogenesis needs to be improved to increase its controllability, it has obvious advantages over the traditional way of bone graft and rigid fixation. Midface distraction avoids bone grafts and alleviates the restriction of the soft tissue to midfacial bone advancement. Midface distraction osteogenesis is an effective and practical way to correct severe syndromic midfacial hypoplasia.

Cysts of the jaws and advances in the diagnosis and management of nevoid Basal cell carcinoma syndrome.

Cysts of the jaws are a relatively commonly encountered pathologic condition, and a full spectrum of these lesions may present in pediatric patients. Most cystic lesions are of odontogenic origin, as seen in adult patients, and a range of surgical approaches are available for their management. These approaches are based on the clinical and radiologic features and the behavioral and histologic characteristics of each cyst. Advances in imaging techniques and laboratory investigations, such as immunocytochemistry and genetic analysis, will continue to facilitate improved diagnoses, patient management, and clinical outcomes.

[The correction of fronto-orbital deformity in infant craniosynostosis--a one year experience].

OBJECTIVE: To evaluate the correction of fronto-orbital deformation in infant craniosynostosis and to discuss the timing of treatment and surgical technique. METHODS: Eleven consecutive patients with craniosynostoses underwent bilateral fronto-orbital osteotomies and advancement via coronal approaches. There were two females and 9 males with an age range from 6 to 9 months. Among the patients, six had trigonocephaly secondary to metopic synostosis, two had non-syndromic plagiocephaly secondary to unilateral coronal synostosis, one had turricephaly secondary to multi-sutural synostosis and two patients had brachycephaly due to syndromic synostosis (Apert syndrome and Saethre-Chotzen syndrome). RESULTS: The shape of forehead, bilateral orbit and bilateral temples in all patients markedly improved with 2-11 months follow-up. There were not obvious complications except that the unilateral parietal bossing happened to the child with turricephaly postoperatively. CONCLUSIONS: Satisfactory results show that fronto-orbital advancement is safe and effective way to correct frontal and orbital retrusion secondary to craniosynostosis.

Management of isolated orbital floor blow-out fractures: a survey of Australian and New Zealand oral and maxillofacial surgeons.

BACKGROUND: This is the first report of involvement of Australian and New Zealand oral and maxillofacial surgeons in the management of isolated orbital floor blow-out fractures and was conducted to obtain comparisons with the results from a recent similar survey of British oral and maxillofacial surgeons. METHODS: A questionnaire survey was sent to all 113 practising members of the Australian and New Zealand Association of Oral and Maxillofacial Surgeons in April 2002 with a second mailout 1 month later. RESULTS: Sixty-nine per cent of the respondents were referred isolated orbital floor blow-out fractures for management, and just over half of these respondents estimated that 50% or more of the cases went to surgery. The materials most commonly used in orbital floor reconstruction were resorbable membrane for small defects and autologous bone for large defects. CONCLUSION: As in Britain, management of isolated orbital floor blow-out fractures comprises part of the surgical spectrum for many oral and maxillofacial surgeons in Australia and New Zealand. The management protocol was observed to be very similar between the two groups.

The role of distraction osteogenesis in the management of craniofacial syndromes.

In patients with craniofacial syndromes, the skeletal discrepancy is often severe, and the ability to achieve the desired movement by immediate surgical repositioning is difficult because of restrictions of the soft-tissue envelope. The technique of distraction osteogenesis has provided an additional option for managing congenital and acquired craniofacial deformities. The use of distraction osteogenesis is, however, still within its infancy as a treatment modality. It is unlikely that the procedure will obviate the need for definitive orthognathic surgery at skeletal maturity in most patients with craniofacial anomalies. The role of distraction osteogenesis in craniofacial surgery will continue to evolve rapidly with increasing experience and technological advancement. Because distraction osteogenesis in the facial skeleton is a relatively new approach, analysis of the contemporary literature is imperative, and future long-term studies on the effects and outcome of distraction are essential.

Hemifacial microsomia: use of the OMENS-Plus classification at the Royal Children's Hospital of Melbourne.

Hemifacial microsomia is the most common facial congenital disability after cleft lip and palate, but as yet its pathogenesis remains unknown. Clinical classification systems have evolved over the last 30 years from those classifying only single components of the disorder, to those classifying according to the combination of deformities, to the most recent systems that grade each anatomical component separately, such as the Orbit, Mandible, Ear, Nerve, and Soft tissue (OMENS) system. The aim of the present study was to review the classification of patients with hemifacial microsomia treated by the Melbourne Craniofacial Unit at the Royal Children's Hospital using the OMENS-Plus system of classification and to correlate the findings with data from other centers. Records of patients treated by the craniofacial unit were reviewed and included in the study if adequate clinical records, photographs, and radiographs (anteroposterior, lateral, basal cephalometry, panoramic views) were available. The data were entered into a database file developed for this purpose. Seventy-one patients were identified from the hospital database, of which six were excluded because of incomplete data. Of the 65 patients, there were 31 (48 percent) with right-sided microsomia, 25 (38 percent) with left-sided microsomia, and nine (14 percent) with bilateral microsomia, with an overall male-to-female ratio of 1.2:1. The majority of patients had a normal orbit (77 percent), mildly hypoplastic mandibular ramus-condyle with functioning temporomandibular joint (57 percent with type M1 or M2a), normal facial nerve (76 percent), and mild soft-tissue hypoplasia (73 percent). There was a similar proportion of patients with mild ear anomalies (53 percent with grade 0 or 1) compared with those with more severe anomalies (47 percent with grade 2 or 3). Correlative analysis demonstrated a slight but positive correlation between the severity gradings of the five individual components. The correlation was lowest between the grading of the nerve and ear and that of the mandible and nerve. The data demonstrate the phenotypic variability of hemifacial microsomia and suggest a degree of relationship among the components of hemifacial microsomia. The OMENS-Plus system has provided a major advancement in the classification of hemifacial microsomia. The authors suggest refinements to the grading of the orbit and nerve components.

A comparison of the stability of single-piece and segmental Le Fort I maxillary advancements.

This study retrospectively evaluated the stability of Le Fort I maxillary advancements and compared segmental and one-piece maxillary osteotomy procedures. A cephalometric analysis was performed on 26 cases of maxillary advancement. The sample comprised 11 cases of one-piece and 15 cases of segmental maxillary procedures. The tracings were superimposed and digitized by computer software, and the skeletal changes were analyzed before surgery, immediately after surgery, and at a minimum of 1 year of follow-up. Different values were compared by the paired and nonpaired t tests and were correlated by the Pearson correlation test. The significant value was set at a 95% confidence interval. The maxilla was advanced by a mean of 5.0 +/- 1.6 mm (P < 0.001), and the anterior maxilla was repositioned inferiorly by a mean of 1.5 +/- 3.3 mm (P < 0.05). The maxilla relapsed posteriorly by a mean of 0.6 +/- 1.2 mm (P < 0.05) and superiorly at the anterior maxilla by a mean of 0.8 +/- 1.1 mm (P < 0.001). Overjet and overbite did not significantly change (P > 0.05). It was concluded that maxillary advancement using rigid fixation and interpositional bone grafting in both groups was a stable procedure, particularly in the horizontal plane. In the one-piece group, there was a significantly higher relapse in the vertical plane than in the segmental group (P < 0.05), however. Minor skeletal relapse was compensated for by postoperative tooth movement, and segmental procedures are recommended when required to enhance occlusal results.