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The aim of this study was to evaluate the long-term results and to evaluate the validity of the treatment algorithm that can be safely applied in dfrontal sinus fractures. All patients were evaluated in terms of late-term contour deformity and further craniometric analysis for measurement of maximum amount of displacement, fracture surface area (mm

After studying this article and viewing the video, the participant should be able to: 1. Compare the relative stability and neurosensory changes following mandible distraction osteogenesis with those after traditional advancement and fixation. 2. Describe the condylar changes that can occur after mandible distraction osteogenesis and list three ways to mitigate these changes. 3. Propose clinical situations where segmental or rotational movements of the midface may allow improved outcomes compared to en bloc linear distraction advancement. 4. Summarize the advantages and risks associated with anterior and posterior cranial distraction osteogenesis compared to traditional one-stage expansion.Over the past 30 years, distraction forces have been applied to the spectrum of craniofacial osteotomies. It is now time to assess critically the current understanding of distraction in craniofacial surgery, identifying both traditional procedures it has replaced and those it has not. This article provides a review of comparative studies and expert opinion on the current state of craniofacial distraction compared with traditional operations. Through this critical evaluation, the reader will be able to identify when distraction techniques are appropriate, when traditional techniques are more favorable, and what the future of distraction osteogenesis is.

Perioperative management of bleeding in children can be challenging. Microvascular imaging techniques have allowed evaluating the effect of blood transfusion on the microcirculation, but little is known about these effects in children. We aimed to investigate the effects of blood management using macro- and micro-hemodynamic parameters measurement in children undergoing craniofacial surgery. This is a prospective observational repeated measurement study including fourteen children. The indications for blood transfusion were changes of hemoglobin/ hematocrit (Hct) levels, the presence of signs of altered tissue perfusion and impaired microcirculation images. Total and perfused vessel densities, proportion of perfused vessels, microvascular flow index, and systemic parameters (hemoglobin, Hct, lactate, mixed venous oxygen saturation, Kþ, heart rate, mean arterial blood pressure) were evaluated baseline (T1), at the end of the surgical bleeding (T2) and end of the operation (T3). Four patients did not need a blood transfusion. In the other 10 patients who received a blood transfusion, capillary perfusion was higher at T3 (13[9 – 16]) when compared with the values of at T2 (11[8 – 12]) (P < 0.05) but only 6 patients reached their baseline values. Although blood transfusions increased Hct values (17 2.4 [T2]-19 2.8 [T3]) (P < 0.05), there was no correlation between microvascular changes and systemic hemodynamic parameters (P > 0.05). The sublingual microcirculation could change by blood transfusion but there was not any correlation between microcirculation changes, hemodynamic, and tissue perfusion parameters even with Hct values. The indication, guidance, and timing of fluid and blood therapy may be assessed by bedside microvascular analysis in combination with standard hemodynamic and biochemical monitoring for intraoperative bleeding in children.

Background: Infantile Hemangiopericytoma (HPC)/Solitary Fibrous Tumor (SFT), a vascular tumor of head and neck region, can be congenital or arise during the first year of the life. As the infantile form of hemangiopericytoma has a better course than the adult form, surgical excision is recommended. Case Report: A full-term neonate presented with a congenital right temporal soft tissue mass. MRI revealed a highly vascular mass with a hemorrhagic and possible necrotic core without intracranial extension. The lesion grew in 2 weeks from 4x4 cm to 9x7 cm. Histologically, a hypercellular spindle cell mesenchymal neoplasm had prominent staghorn vessels, alternating with hypocellular areas. Mitotic activity was low(1-3/HPF) and necrosis was absent. Conclusion: Infantile HPC/SFT of head and neck can grow rapidly during the infantile period. Complete excision without mutilating surgery should be curative.

Fronto-orbital advancement using distraction techniques involves the dura left attached to the osteotomized bone segment to avoid dead space formation and dural injury, whereas it is impossible to reshape the supraorbital bar and the frontal bone complex, when necessary. Our approach combines advantageous parts of conventional and distraction osteogenesis techniques as remodel and distract the supraorbital bar and frontal bone complex as a free bone graft. Twenty-seven patients either being syndromic and nonsyndromic craniosynostosis, with at least 3 years of follow-up were reviewed in this study. Mean age of the patients at the time of the operation was 23.44 ± 18.42 months and mean operative time was 4.96 ± 0.97 hours. Blood transfusion was required in all patients, with an average of 112.04 ± 44.60 mL. Amount of the distraction ranged 10 to 30 mm, a mean of 17.26 ± 4.71 mm for the right side and 18.15 ± 4.69 mm for the left side. Mean duration of consolidation was 98.26 ± 12.98 days and mean follow-up was 41.33 ± 22.92 months. In this study, result of internal distraction of fronto-orbital segment as a nonvascularized bone graft in craniosynostotic patients is reviewed to emphasize the efficacy of the nonvascularized bone graft distraction in management of craniosynostosis. Graft distraction after fronto-orbital and cranial vault remodeling appears to be safe and effective approach in correcting severe craniosynostosis deformities especially necessitating asymmetrical advancement.

Many intracranial as well as extracranial complications can be seen following craniosynostosis surgeries. In this article, we would like to share an extremely rare complication of the infarction of the recurrent artery of Heubner, occurred following frontoorbital advancement. In this case, an 18-month-old male patient underwent supraorbital bar and frontal bone remodeling surgery for nonsyndromic metopic suture synostosis. The preoperative neurosurgical evaluation revealed no signs of increased intracranial pressure. On the 3rd postoperative day, the patient developed asymmetric smile and weakness on the left extremities. Computerized tomography showed a hypodense infarction region around the right basal ganglia and internal capsule, concordant with the region supplied by the recurrent artery of Heubner. The patient's symptoms started to regress on the 2nd day of enoxaparine treatment and he was discharged on 12th postoperative day with almost no signs of the event. In this paper, we presented an unlikely complication after frontoorbital advancement. Keeping in mind the long operating time and the proximity of the procedure to the central nervous system, assessment of the neurological function of the patients both before and after the operation and rapid intervention in case of development of neurologic symptoms are of great importance.

International audience; Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD.

The purpose of this study was to review the application of mandibular distraction to relieve severe airway obstruction or feeding problems of neonates. Thirteen neonates with Pierre Robin sequence who underwent bilateral mandibular distraction between 2010 and 2013 for relief of their severe airway obstruction or feeding problems were retrospectively reviewed. The mean preoperative and postoperative airway diameters were 3.89±1.64 and 9.03±1.98 mm. respectively and significant difference was observed with distraction (p < 0.001). The rate of severe airway infection also significantly decreased from 69.2% to 23.1% (p=0.016). 84.6% of the patients were able to be fed orally at discharge whereas 6 patients (46.2%) required support via orogastric tube before distraction (p=0.125). No growth disturbance, dental complications or malocclusion was observed in the long-term follow up. Mandibular distraction appears to be a promising and effective surgical option for relieving airway obstruction and feeding problems in severe Pierre Robin Sequence patients.

Objective: The objective is to evaluate the effects of maxillary distraction osteogenesis (DO) in an adult patient with unilateral cleft lip and palate (UCLP) by using a rigid external distraction (RED) device with dentoskeletal anchorage.Method: 31-year-old male patient with UCLP with severe maxillary hypoplasia, dolichofacial growth pattern, negative overjet and 1.5 mm openbite. After pre-surgical orthodontic treatment, an intra-oral appliance was modified to prevent extrusion of the molars and clockwise rotation of the mandible. Stainless steel plates were soldered bilaterally to the intra oral appliance at the level of canines. During surgery, miniplates were inserted in the maxillary segment and fixed to the plates of the intra oral appliance with screws.Results: The mean distraction length was 12 mm immediately after DO. SNA increased from 73o to 82o after distraction. A significant advancement of the maxilla and correction of the sagittal Class III skeletal relationship was achieved. The vertical position of the mandible and the face was kept stable, and the soft tissue profile became more balanced.Conclusion: This intra oral appliance design achieved desired skeletal changes during maxillary protraction with RED device in dolichofacial CLP patient. Occlusion and facial profile changes was found to be stable in 1-year follow-up. (Eur J Dent 2012;6:206-211)

The aim of the study was to obtain anatomic bone healing and restoration of the patient's premorbid occlusion in complex facial fractures or comminuted facial fracture. Ten patients who applied to a tertiary health care clinic with complex or comminuted fractures, and mandibular fractures combined with condylar fractures which may impair the occlusal harmony were included in the study.After the preparation of premorbid occlusal splints and direct bonded orthodontic brackets, splint-assisted reduction and internal fixation have been performed. The treatment protocol was completed with 4 to 6 weeks of intermaxillary fixation over the splint. All fracture lines showed complete bone healing, without major complications requiring further treatment. Complications included a minor degree of malocclusion in one of the panfacial fracture patients and slight avascular resorption of the condyle in one of the avulsive open comminuted mandibular fracture patients.Using orthodontic splints and direct bonded brackets to obtain and maintain delicate reduction is an efficacious method for the prevention of occlusal disharmony and aesthetic impairments in comminuted lower facial unit and complicated facial fracture patients.

Background Craniofacial structures have an intimate relationship with the central nervous system in the embryologic development period and the developmental abnormalities of the face and skull that are frequently associated with malformations of the central nervous system. Additional intracranial and extracranial malformations in a patient with craniofacial deformity may negatively affect the outcome of the surgery and the quality of life. Patients and methods A retrospective analysis of a total of 123 patients with craniofacial anomalies was performed. Physical examination notes, ophthalmologic findings, computed tomography, and magnetic resonance imaging reports were retrospectively analyzed, and intracranial and extracranial malformations and ophthalmologic problems in each group were categorized. Results Of the patients with nonsyndromic craniosynostosis, 29% had intracranial and extracranial malformations. Of them, 17% had ophthalmologic problems. Of the patients with syndromic craniosynostosis, 34% had intracranial and 31% had extracranial malformations. In the patients with craniofacial cleft, 60% had intracranial and 30% had extracranial malformations. The most common intracranial malformations are hydrocephaly, Chiari type 1 malformation, and corpus callosum disorders. Conclusions A multidisciplinary approach is essential in the evaluation and follow-up of individuals with craniofacial abnormalities. Conventional radiography and three-dimensional computed tomography of the bony skeleton and axial scanning of the soft tissues is our first-step routine. Brain magnetic resonance imaging should be performed in patients with multiple-suture synostosis, syndromic synostosis, and craniofacial clefts to rule out central nervous system and soft tissue malformations. During the postoperative first year, conventional x-rays are sufficient to evaluate the craniofacial area. Central nervous system disorders may cause major headaches, muscle weakness, hearing problems, extreme fatigue, poor motor coordination, and cognitive and social disabilities even when their intelligence quotient is normal. Therefore, every effort should be performed to search and treat additional malformations. Prevention of additional morbidities improves surgical and social outcomes.

YILMAZ, Engin/0000-0001-8873-7645; Akarsu, Nurten/0000-0001-5432-0032; Ozdag, Hilal/0000-0001-7940-2499; Liehr, Thomas/0000-0003-1672-3054; Alanay, Yasemin/0000-0003-0683-9731; von Eggeling, Ferdinand/0000-0002-8062-6999 WOS: 000278045300015 PubMed: 20451171 We present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of the ala nasi, and low-set, posteriorly rotated ears in two distinct families. Using Affymetrix 250K SNP array genotyping and homozygosity mapping, we mapped this clinical entity to chromosome 12q21. In one of the families, three siblings were affected, and CNV analysis of the critical region showed a homozygous 3.7 Mb deletion containing the ALX1 (CART1) gene, which encodes the aristaless-like homeobox 1 transcription factor. In the second family we identified a homozygous donor-splice-site mutation (c.531+1G > A) in the ALX1 gene, providing evidence that complete loss of function of ALX1 protein causes severe disruption of early craniofacial development. Unlike loss of its murine ortholog, loss of human ALX1 does not result in neural-tube defects; however, it does severely affect the orchestrated fusion between frontonasal, nasomedial, nasolateral, and maxillary processes during early-stage embryogenesis. This study further expands the spectrum of the recently recognized autosomal-recessive ALX-related FND phenotype in humans. Scientific and Technological Research Council of Turkey (TUBITAK)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [108S420]; European Research Area Network (E-RARE) [R07197KS] We are grateful to the families for their participation in the study. We thank Han Brunner for critical reading and comments, Ebru Oralli Bircan for illustrations, Hacettepe University Craniofacial Surgery Study Group members Yucel Erk, Emin Mavili, Aycan Kayikcioglu (Plastic and Reconstructive Surgery), Kemal Benli (Neurosurgery), Aysenur Cila (Radiology), Tulin Taner, and liken Kocadereli (Orthodonty) for evaluating the frontonasal malformation cases in the registry. This work was supported by the Scientific and Technological Research Council of Turkey (TUBITAK) (grant numbers 108S420 to N.A.A), and the overall consortium (CRANIRARE) was supported by the European Research Area Network (E-RARE) (project number R07197KS).

Premature fusion of calvarial sutures is the result of a long and complex reaction, and several growth factors including transforming growth factor beta and basic fibroblast growth factor have important role in this event. Several prostaglandins have important functions in local bone modeling and remodeling by autocrine and paracrine mechanisms. Although effects of prostaglandins on long bones were studied both experimentally and clinically, there are limited data about cranial bones and sutures. In this study, we investigated the effect of iloprost-a stable prostacyclin analogue, which is widely used for the treatment of pulmonary arterial hypertension even in early pregnancy, to rat calvarial sutures. In 2 study groups, iloprost was injected intraperitoneally 10 and 15 microg kg d, respectively. In the third group, dexamethasone 2 mg kg d + iloprost 15 microg kg d was injected intraperitoneally to antagonize the effects of iloprost. In every group, 4 rats were killed at the postoperative 15, 30, and 45 days, and specimens including the sagittal and frontal sutures were excised immediately. Routine histological and immunohistological staining were performed on the specimens. Morphological measurements were performed on the skulls, also. In histological evaluation, bone formation in the both frontal and sagittal suture area was increased and accelerated in iloprost groups. Dexamethasone inhibited the effects of iloprost on the third group. Expressions of transforming growth factor beta and basic fibroblast growth factor were also increased in immunohistological staining. In morphological measurements, statistically significant differences were found between control and study groups. Iloprost did not fused the rat calvarial sutures prematurely, but it narrowed the sagittal and frontal sutures especially after the second week of the study. This situation might effect the sutures of the babies of the pregnant patients with pulmonary arterial hypertension treated with iloprost. Cranial sutures, calvarial bones, and cranial shape of the babies of the pregnant patients who were treated with iloprost should be monitored to clarify the topic.

Complex zygomaticomandibular syngnathia is an extremely rare condition with an unknown etiology. The main goal of the surgery is to release the ankylosis, establish good functioning mandible, and prevent reankylosis, if possible. In our case, we offer a new solution to have an adequate oral opening and to prevent reankylosis. After the release of bony syngnathia, we placed a distractor between mandibular segment and maxillozygomatic complex. To our best knowledge, this is the only syngnathia case in the literature treated using distraction techniques. There is a major improvement in the patient's status. Distraction may broaden our horizons in this rare and difficult-to-treat deformity.

Craniofacial surgery almost always requires the use of bone grafting. Although autografts are the standard procedure for bone grafting, it is sometimes not possible to harvest bone, and autografts have particular risks. The use of allograft bone provides a reasonable alternative to meet the need for graft material. Solvent dehydration is a multistage procedure in which human cadaveric bone is processed by osmotic exchange baths and gamma sterilization. This processing avoids the risk of infection transmission, decreases antigenicity, and does not weaken the mechanical properties of the bone. Solvent-dehydrated, gamma-irradiated human calvarial bone allografts were used for reconstruction of craniofacial deformities in 24 patients between 1988 and 2002. Resorption of the allografts and results of the surgical intervention were evaluated with plain radiographs and three-dimensional computed tomography 12 months after surgery, in 21 patients. Serologic tests for human immunodeficiency virus-1 antibody, hepatitis B surface antigen, and hepatitis C antigen were also performed. Biopsy specimens were taken from the allografts. Average follow-up in this group was 30 months (range, 8 to 60 months), and results of serologic tests were negative in all patients. Seventy-one percent of the patients (15 of 21) showed no resorption, with partial and complete allograft fusion. One patient had nearly total graft loss and the remaining five patients had 10 to 25 percent graft resorption. Rigid fixation of the allograft, contact with the dura and periosteum, and prevention of dead spaces around the allograft are the most important factors in achieving a satisfactory result. In solvent-dehydrated bone allografts, sterilization and antigenic tissue cleaning are achieved after several steps with a minimal dose of radiation. The result is a nonantigenic, sterile mechanical scaffold that can tolerate external forces. Although autografts are the standard in craniofacial surgery, solvent-dehydrated calvarial bone allografts produced successful results in selected cases.

Distraction osteogenesis has become popular for the treatment of hypoplastic congenital craniomaxillofacial anomalies. Rigid external distraction (RED II) after Le Fort III osteotomy was shown to be a highly effective treatment for the management of midface hypoplasia. This device is used with a halo vest, which is placed at the cranial equator. Intracranial penetration of the fixation pins of the halo is one of the complications of an external distraction device. To prevent pin penetration in rigid external distraction, the authors designed polylactic acid/polyglycolic acid (PLA/PGA) plates that were circular; the plates were 0.8 cm in diameter and had 1.5-mm holes in the center, through which the tip of the pins would pass. To quantify the applied torque by manual tightening of the screws of the distraction device and to measure intraosseous cone depth created by the penetration of the conical part of the screws with and without the PLA/PGA composite stopper, first an in vitro experiment was undertaken on cadaver. Then these PLA/PGA plaques, or stoppers, were placed over the bone surfaces of the cranium of the patients where the tip of the pins press. PLA/PGA stoppers are malleable and adapt their shape to the interactive forces between bone and the pins. They act as a second barrier, and spread the pressure of the screws to larger surfaces, thus securing better stabilization. The penetration of wider portions of the screw into scalp is reduced, minimizing the scalp damage caused by the screws. Biodegradable and biocompatible PLA/PGA stoppers avoid intracranial migration of the fixation pins, especially in children.

Defects in the sacrococcygeal and ischial soft tissues can be treated with gluteus maximus and posterior thigh V-Y advancement flaps. However, late complications include recurrence and dehiscence of the suture line. Increasing the amount of the soft tissues over the bony prominences and multilayered closure may have an advantage for long-term durability. We modified the V-Y advancement technique by de-epithelialising the medial parts of the flap and burying them under the opposing edge of the wound or the flap. Sixteen patients with various defects of the sacrococcygeal and ischial soft tissues were operated on using this technique. All the flaps healed well with no partial or complete loss of the flap. Three patients developed complications. The main advantage of our technique is the use of healthy tissues to obliterate the dead spaces under the edges of the wound or the opposing flap. In this way, not only the defect in the skin but the defect in the subcutaneous tissue, with its iceberg tip at the surface, is treated effectively. To have an additional layer of tissue between the bone and the superficial tissues provides an extra cushion of soft tissue and avoids putting the suture line directly over the bony prominences. We used this modification safely for both unilateral and bilateral flaps. It could also be used successfully in other parts of the body.

Cleft lip with or without cleft palate (CL/P) is a common congenital anomaly, with birth prevalence ranging from 1/500 to 1/1,000. A number of genetic loci have shown positive linkage or association results in European Caucasian populations. The purpose of the current study was to assess whether any of those loci have positive results in Turkish Caucasian CL/P families, and to perform a 10 cM genome scan to identify other regions potentially containing cleft susceptibility loci. Eighteen affected individuals with consanguineous parents were identified as part of our on-going studies of orofacial clefts in Ankara, Turkey. Genotyped were 383 genome-scan markers, and 70 additional markers, including markers in six candidate loci or regions on chromosomes 2, 4, 6, 14, 17, and 19 (TGFA, D4S175, F13A1, TGFB3, D17S250, and APOC2) that have been implicated in other studies of families with orofacial clefting. LOD scores (two point and multiple point) and family-based association statistics (TDT) were calculated between each of the markers and CL/P. For the LOD score calculations, an autosomal recessive model was assumed for the inheritance of CL/P. Of the six candidate markers, significant TDT results were obtained with TGFA (P = 0.05). The most statistically significant multipoint results from the linkage genome scan were between putative genes controlling risk of CL/P and regions on chromosomes 4, 10, 12, and 15 (maximum multipoint HLOD's of 1.25, 1.30, 2.73, and 1.28 respectively). These results demonstrate the power of small numbers of families with inbred probands to detect linkage and association.

Çetinkaya A, Taşkıran E, Soyer T, Şimşek-Kiper PÖ, Utine GE, Tunçbilek G, Boduroğlu K, Alikaşifoğlu M. Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome. Turk J Pediatr 2017; 59: 619-624. Cranial sutures are unossified connective tissue structures between the cranial bones, which allow expansion of these bones during development. Premature ossification of these structures is called craniosynostosis. Apert syndrome is a well-defined genetic syndrome, which is characterized by craniosynostosis and arises as a result of two missense mutations in Fibroblast Growth Factor Receptor, type 2 gene (FGFR2). In this study, differentially expressed genes in dermal fibroblasts from individuals with Apert syndrome and controls were investigated to identify important pathways in the pathogenesis of Apert syndrome. For this purpose, primary skin fibroblast cultures obtained from 3 individuals with Apert syndrome and 3 controls without craniosynostosis were compared by transcriptome microarray, GeneChip Human Genome U133 Plus 2.0. As a result, 181 genes were shown to be differentially expressed between experimental groups. Among these, 10 genes, which significantly differ in Apert syndrome fibroblasts compared to controls, were shown to be involved in a common interaction network and have common Gene ontology (GO) biological processes terms. COL11A1, COMP, CPXM2, ITGA8, MGF and TNC are differentially expressed genes that have GO terms associated with extracellular matrix (ECM) organization, while FRZB, SFRP2 and WNT2 are involved in WNT signaling pathway. Reorganization of ECM and changes in WNT signaling pathway show that Apert syndrome primary fibroblast cultures may have an increased potential for bone differentiation. The results of this study support craniosynostosis in Apert syndrome may be the result of fast and early differentiation of connective tissue along the sutures.

Congenital fusion of upper and lower jaw is rare. Only 35 bony syngnathia have been reported up to date, and 9 of them revealed posterior topography. A 10-day-old female infant with facial asymmetry, limited mouth opening, and cardiac murmurs is presented. The radiological findings revealed congenital bony fusion of right coronoid process of the mandible to posterior maxillary region and right palatal shelf agenesis of palatal bone, which seems to be the first case in the literature. Classification systems of bony syngnathia and applied treatment procedures for palatal closure and release of the bony fusion are discussed.

Lymphatic malformations are uncommon, benign and congenital malformations of the lymphatic system exhibiting lack of development of communication between the lymphatic and venous circulation. We report the unusual case of rapidly expanding giant lymphatic malformation of the torso, bilateral axillae and left upper extremity of a newborn. As the first-line treatment, aspiration and sclerotherapy with bleomycin were performed. The sclerotherapy failed to cause regression of the mass, and rapid expansion of the malformation necessitated surgery. Partial resection of the mass was performed. Clinical symptoms of respiratory distress resolved in the early postoperative period, and the patient became hemodynamically stable. However, intrathoracic invasion of the mass developed, leading to restriction of thoracic expansion, ending in death. In conclusion, surgical treatment of giant lymphatic malformations remains challenging.

Congenital sinuses, fistulas, dimples, or pits of the lips are uncommon congenital malformations. In the upper lip they are extremely rare, and only one third of them are placed laterally. The authors present a patient with bilaterally placed upper lip pits associated with speech disorders, a short and everted upper lip with an orbicularis muscle defect in the midline, slight hypertelorism, and low-set ears. Orbicularis muscle repair and tubercle augmentation were performed. No further treatment was administered to the upper lip pits because of lack of symptoms. This is the third bilateral case of the sinus or pit of the upper lip reported in the literature.

Several radiological methods have been utilized to assess velopharyngeal function. The more recent imaging technique, magnetic resonance imaging (MRI), which has a number of advantages over radiographic and computed tomographic imaging, has been used rarely for evaluating velopharyngeal insufficiency. In this study, 5 normal volunteers and 10 patients with surgically repaired cleft palate were examined with MRI using midsagittal, coronal, and axial images. Nasoendoscopy was also performed to complete and confirm the diagnoses. Complete and tight closure of the velopharynx and full backward and upward movement of the soft palate was observed in volunteers. In coronal images, medial movement of lateral pharyngeal walls could also be seen. Despite this, patients with surgically repaired cleft palate had some degree of motion of the soft palate, ranging from no movement to maximal movement. In most of the patients, short soft palates with restricted motion was seen. MRI visualizes the velopharyngeal sphincter in all planes and provides high-resolution images of the soft tissues. Objective measurements can be made as well. In this study, MRI and nasoendoscopy were used together in the diagnosis of velopharyngeal insufficiency and gave satisfactory results.

The nose is the most common site for cutaneous malignancies, and metastatic lesions in the skin of the nose are very rare, particularly metastasis of carcinoma of the uterine cervix. We present the fourth patient with carcinoma of the uterine cervix who had cutaneous metastasis to the nose, indicating the dissemination of her carcinoma. The patient had a diagnosis of carcinoma of the uterine cervix labeled as International Federation of Gynecology and Obstetrics stage IIB 30 months ago. She was treated with pelvic chemoradiotherapy. Multiple metastases in both of the lungs were detected by computed tomography of the thorax 1 month ago. In addition, a week later, a lesion on her nose started to appear. With an external nasal incision, the mass was excised with tumor-free borders including a skin island. Unfortunately, the patient died on the eighth postoperative day. This patient showed a very poor prognosis after the appearance of a cutaneous metastasis of the cervical carcinoma, which is often perceived as a preterminal event, generally occurring in the later stages of the illness. The treatment of these conditions is palliative and should ameliorate the mood of the patient.

A spontaneous encephalocele is one that develops either because of embryological maldevelopment or from a poorly understood postnatal process that permits brain herniation to occur. We here report a rare case of lateral temporal encephalocele extending to the infratemporal fossa under the zygomatic arch. At birth, the infant was noted to have a large cystic mass in the right side of the face. After being operated on initially in another center in the newborn period, the patient was referred to our clinic with a diagnosis of temporal encephalocele. He was 6 months old at the time of admission. Computerized tomography scan and magnetic resonance imaging studies revealed a 8 × 9 cm fluid-filled, multiloculated cystic mass at the right infratemporal fossa. No intracranial pathology or connection is seen. The patient was operated on to reduce the distortion effect of the growing mass. The histopathological examination of the sac revealed well-differentiated mature glial tissue stained with glial fibrillary acid protein. This rare clinical presentation of encephaloceles should be taken into consideration during the evaluation of the lateral facial masses in the infancy period, and possible intracranial connection should be ruled out before surgery to avoid complications.

We have characterized a novel autosomal recessive Crouzon-like craniosynostosis syndrome in a 12-affected member family from Antakya, Turkey, the presenting features of which include: multiple suture synostosis, midface hypoplasia, variable degree of exophthalmos, relative prognathism, a beaked nose, and conductive hearing loss. Homozygosity mapping followed by targeted next-generation sequencing identified a c.479+6T>G mutation in the interleukin 11 receptor alpha gene (IL11RA) on chromosome 9p21. This donor splice-site mutation leads to a high percentage of aberrant IL11RA mRNA transcripts in an affected individual and altered mRNA splicing determined by in vitro exon trapping. An extended IL11RA mutation screen was performed in a cohort of 79 patients with an initial clinical diagnosis of Crouzon syndrome, pansynostosis, or unclassified syndromic craniosynostosis. We identified mutations segregating with the disease in five families: a German patient of Turkish origin and a Turkish family with three affected sibs all of whom were homozygous for the previously identified IL11RA c.479+6T>G mutation; a family with pansynostosis with compound heterozygous missense mutations, p.Pro200Thr and p.Arg237Pro; and two further Turkish families with Crouzon-like syndrome carrying the homozygous nonsense mutations p.Tyr232* and p.Arg292*. Using transient coexpression in HEK293T and COS7 cells, we demonstrated dramatically reduced IL11-mediated STAT3 phosphorylation for all mutations. Immunofluorescence analysis of mouse Il11ra demonstrated specific protein expression in cranial mesenchyme which was localized around the coronal suture tips and in the lambdoidal suture. In situ hybridization analysis of adult zebrafish also detected zfil11ra expression in the coronal suture between the overlapping frontal and parietal plates. This study demonstrates that mutations in the IL11RA gene cause an autosomal recessive Crouzon-like craniosynostosis. © 2013 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

The aim of this case report was to present the combined orthodontic and surgical treatment of a patient with Apert syndrome in an adult stage. A 15 years old male patient with Apert syndrome was concerned about the appearance of his face and malocclusion. His profile was concave with a retruded maxilla and prominent lower lip. He had an Angle class I molar relationship with a 9.5 mm anterior open bite. The amount of crowding was 20.4 mm in the maxilla and 6 mm in the mandible. Cephalometric analysis revealed a skeletal Class III relationship due to maxillary hypoplasia with a dolichofacial growth pattern. Orthodontic treatment and orthognathic surgery were planned for the patient. After 45 months of presurgical orthodontics, the patient underwent two surgeries sequentially. The first surgery was performed to advance the maxilla and the second surgery was performed to correct the mandibular rotation and increase the overbite at the time of removing halo device. The amount of maxillary advencement was 8 mm. Mandibula was moved 1.5 mm anteriorly and rotated 1° to 1.5° (SNB and facial depth) in a counterclockwise direction. After a relatively long treatment, an esthetically pleasing and functional occlusion and correction of the skeletal problem was achieved in this adult case. How to cite this article Kaya D, Taner T, Aksu M, Keser EI, Tuncbilek G, Mavili ME. Orthodontic and Surgical Treatment of a Patient with Apert Syndrome. J Contemp Dent Pract 2012; 13(5):729-734.

The development of craniofacial distraction techniques represents a significant advancement in the management of craniofacial dysplasias. For distraction of the midface after Le Fort III osteotomy, two levels of anchorage to the moving segments are necessary. In this report, the authors connected the distraction forces directly to the infraorbital rims, using a surgical wire for superior anchorage. They performed this technique in four patients with craniofacial dysplasia for the management of severe maxillary hypoplasia using RED II system. This configuration not only simplified the placement of the system but also made the removal of the device much easier. The authors did not have any problems with the wire traction unit, such as wire breakdown or bony tunnel disruption. It is a cheap, simple, and effective configuration that can be easily performed without any complication.

Oronasal fistula can cause speech problems, hearing loss, velopharyngeal insufficiency, and social problems related with fetor oris and oronasal fluid leakage. The purpose of this study was to achieve 3-layer closure with autogenous mastoid fascia graft in a group of patients with recalcitrant oronasal fistulas.Sixteen patients, aged between 2 and 56 years (mean, 13.9 y), with recalcitrant palatal fistula were operated on and included into the study in a tertiary clinic. Nine patients had previous fistula repairs. The patients' mean follow-up period was 6.8 months.Fistula closure was obtained in 14 of 16 patients. All 2 failures had type IV + V fistulas according to Pittsburgh Classification. A 3-layer technique for the closure of fistulas with autogenous mastoid fascia graft allows three-dimensional repair of the defect without tension. Using mastoid fascia via postauricular sulcus incision is a good alternative regarding hiding incision scars and not requiring intraoperative repositioning.

The concept of using implantable springs in craniofacial surgery was developed to dynamically remodel the cranium at the postoperative period. Springs have been shown as an effective treatment modality especially for single-suture synostosis patients and had several advantages over traditional techniques. This report presents 2 patients with cloverleaf skull and 1 patient with multiple-suture synostosis, with severe lacunae, who showed signs of increased intracranial pressure. Decompression and reconstruction were performed using implantable springs after Pi craniectomy. In all patients, lacunae disappeared and calvarial bones ossified almost completely. The shape of the patients' cranium improved as well. Implantable springs could be a useful addition to the armamentarium of every craniofacial surgeon.

Frontofacionasal dysplasia or dysostosis (Mendelian Inheritance in Man 229400) is composed of cranial, ophthalmic, na- sal, and lip and palate deformities. It is a rare and separate entity be- cause it contains none of the extracranial defects seen in frontonasal dysplasia and related syndromes. Four patients with frontofacionasal dysplasia were treated in Hacettepe University between 2000 and 2007. A new surgical ap- proach, less invasive and risky than an intracranial procedure and more effective and quicker than an orthodontic molding/distraction therapy, was developed during the treatment course of this group of patients. Le Fort III bipartition osteotomy was performed to reduce the distance between maxillary segments in very wide cleft lip and palate repair. No surgical complication was encountered, and all the patients healed well and were discharged from the hospital without a problem. Craniofacial deformities of the patients with frontofacionasal dysplasia should be repaired to have a socially acceptable facial appearance. We suggest Le Fort III bipartition osteotomy in selected cases to reduce the distance between maxillary segments in patients with very wide clefts. (J Craniofac Surg 2009;20: 1056Y1058)

Treatment of large soft tissue vascular lesions, one of the greatest challenges facing plastic surgeons, is patient specific in almost all cases, and preoperative angiographic evaluation and embolization of these lesions are standards of care. The aim of this study was to evaluate the usefulness of 3-dimensional demonstration and volumetric assessment of soft tissue vascular lesions both in the treatment of these lesions with curettage and in the participation of the patients to the decision-making process of the disease. Five patients with vascular malformation of the head and neck regions were included to this prospective trial. All patients were evaluated with preoperative angiography, and selective embolizations of the soft tissue vascular lesions were done in the same session by the same interventional radiologists. The amount of embolic agent injected was determined according to the size and vascularization of the lesions. Surgery was done by curettage of the embolized lesions 7 to 10 days after the embolization procedure. The raw data obtained from preoperative and postoperative high-resolution computed tomographic scans of the patients were processed with a Mimics 9.22 Software (Materialise's Interactive Medical Image Control System, Leuven, Belgium). Volume and surface area of the injected embolic agent were assessed. Statistical analysis was performed using the software package SPSS 10.0 for Windows (SPSS Inc, Chicago, IL). Wilcoxon signed rank test was used to compare the measurements of the volume and the surface area of injected sclerosing agent preoperatively and postoperatively. There were no complications related to either the preoperative angiography or embolization procedure. All the patients emphasized (assessed) that the 3-dimensional demonstration of the lesions and their relation with other anatomic structures helped them to understand the extent of their pathology and aim of the proposed treatment. The difference between the volumetric measurements before and after the treatment was found statistically significant. Treatment of large soft tissue vascular lesions with curettage after embolization has acceptable cosmetic results. Although it is not possible to remove all of the sclerosing agent from its injection site with this technique, a significant amount of it can be removed, and the 3-dimensional vascular architecture of the lesion is disturbed. Reactive chronic inflammation against the remaining sclerosing agent and the intralesional scarring caused by curettage lead to further improvement. Using 3-dimensional imaging modalities helps patients and/or their relatives to understand their disease and participate in the decision-making process.

Purpose To evaluate skeletal and dental stability in adult cleft lip and palate patients treated with a rigid external distraction system at the end of distraction and during the postdistraction period. Patients and Methods Lateral cephalograms of 7 patients were obtained before distraction, at the end of distraction, and during the postdistraction period. The mean age before distraction was 21.56 ± 4.73 years. The mean follow-up was 37.3 ± 12.4 months. Results The assessment of findings showed that skeletal maxillary sagittal movement was achieved in a superoanterior direction. The maxillary depth angle and effective maxillary length increased significantly (2° and 9 mm, respectively) after distraction, whereas the palatal plane angle increased by 8°, resulting in an anterior movement of the maxilla with a counterclockwise rotation. The lower facial height showed no significant changes after distraction. The sagittal movement of the upper incisors and the angulation of the upper first molars increased significantly (4.5 mm and 5.5°, respectively). During the postdistraction period, the maxilla showed a slight relapse (22%). The effective maxillary length decreased by 2 mm. The palatal plane angle almost returned to its original position, showing 7° of clockwise rotation. The lower facial height remained stable. The upper incisors moved anteriorly and the upper first molars showed a significant mesioangular change during follow-up. Conclusions After distraction, significant maxillary advancement was achieved with a counterclockwise rotation. The upper incisors moved labially, and the upper first molars angulated mesially. After 3 years, a 22% relapse rate was seen in the maxilla. The counterclockwise rotation of the maxilla was returned to its original position. The upper incisors moved more anteriorly.

Akarsu, Nurten/0000-0001-5432-0032; Alanay, Yasemin/0000-0003-0683-9731 WOS: 000271107300012 PubMed: 19692347 Genetic control of craniofacial morphogenesis requires a complex interaction of numerous genes encoding factors essential for patterning and differentiation. We present two Turkish families with a new autosomal recessive frontofacial dysostosis syndrome characterized by total alopecia, a large skull defect, coronal craniosynostosis, hypertelorism, severely depressed nasal bridge and ridge, bifid nasal tip, hypogonadism, callosal body agenesis and mental retardation. Using homozygosity mapping, we mapped the entity to chromosome 11p11.2-q12.3 and subsequently identified a homozygous c.793C -> T nonsense mutation in the human ortholog of the mouse aristaless-like homeobox 4 (ALX4) gene. This mutation is predicted to result in a premature stop codon (p.R265X) of ALX4 truncating 146 amino acids of the protein including a part of the highly conserved homeodomain and the C-terminal paired tail domain. Although the RNA is stable and not degraded by nonsense-mediated RNA decay, the mutant protein is likely to be non-functional. In a skin biopsy of an affected individual, we observed a hypomorphic interfollicular epidermis with reduced suprabasal layers associated with impaired interfollicular epidermal differentiation. Hair follicle-like structures were present but showed altered differentiation. Our data indicate that ALX4 plays a critical role both in craniofacial development as in skin and hair follicle development in human. Scientific and Technology Research Council of Turkey (TUBITAK)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [108S420, 108S418]; German Federal Ministry of Education and Research GrantsFederal Ministry of Education & Research (BMBF) [01GM0801, SFB829]; European Research Area Network 'E-RARE' [R07197KS] This work was supported by the Scientific and Technology Research Council of Turkey (TUBITAK) [grant numbers 108S420 (to N.A.A.) and 108S418 (to H. K.)]; and German Federal Ministry of Education and Research Grants [grant numbers [01GM0801 (to B. W.) and SFB829 (to C.M.N. and I. H.). Responsibility for the contents rests with authors. Overall consortium (CRANIRARE) was supported by the European Research Area Network 'E-RARE' [Project number R07197KS].

Maxillofacial trauma may cause eye injury besides fractures of the facial skeleton. However, evulsion of the globe is a rare event, and there are only a few reports of true total enucleation of the globes in the literature. We report a 23-year-old man who was a victim of motorcycle accident, with enucleation of the globe, evulsion of the septal cartilage, and midfacial fractures. We reviewed and discussed the literature of traumatic evulsion of the globes in maxillofacial traumas.

Collapse of maxillofacial skeletal structures after trauma results in inadequate anteroposterior projection and increase in facial width with deformed facial aesthetics and various functional problems. After successful use of rigid external distractor for treatment of congenital facial hypoplasia, they have been used for treating more complex craniofacial anomalies. Six patients with posttraumatic orbitozygomaticomaxillary deformity were managed with intraoperative and/or postoperative use of rigid external distractor device. All the patients maintained the early postoperative aesthetic and functional results in their follow-up period. All patients that the device kept applied in postoperative period tolerated the device. There were no complications related to use of rigid external distractor. Rigid external distractor device is a useful instrument in management of traumatic facial deformities and can be used (1) in controlled traction for reduction of impacted bony segments, (2) as external fixator to decrease the number of plates for fixation, (3) to overcome the soft tissue tension over bony structures to enable the use of smaller screw-plate systems, and (4) for fine adjustment of bony segments after operation depending on the needs of the case demonstrated with postoperative control computed tomographies.

Objective: Palatal fistulas are among the complications of cleft palate repair requiring additional surgery. Suturing the nasal mucosa and mucoperiosteal flaps together in a tension-free manner to create a double-layered closure in the hard palate is one of the most important points in prevention of dehiscence and fistula formation. In this report, we describe a salvage procedure to repair nasal mucosa that might be lacerated while being freed from the upper surface of the palatal process. Method: To restore the nasal lining, an ipsilateral vomer mucoperiosteal flap or the opposite nasal mucosa flap is advanced to the palatine bone and sutured directly to the palatal process in order to guarantee an intact cleft palate repair. Results: This method is an easy, simple, and time-saving procedure. It should be a useful addition to the armamentarium of every plastic surgeon, especially those working as consultants in training units.

The standard treatment modality of zygomatic fractures is open reduction and rigid fixation of the fractured segments. Although most of the zygomatic fractures deserve this attentive surgical manipulation to prevent late residual asymmetry, minimally depressed noncomminuted zygomatic fractures can be reduced and fixed percutaneously. Percutaneous intervention causes minimal scarring and morbidity than open techniques and it is possible to align fragments precisely by using high-quality three-dimensional computed tomography (3-D CT) imaging. Six patients with noncomminuted fractures of the zygomaticomaxillary skeleton were evaluated with plain radiographs of facial bones, axial, coronal and 3-D CT. Reduction of the displaced bone segments were achieved by traction of percutaneously applied screw. Either reduced segments were not fixated at all or one of the two new fixation techniques, described in detail in the article, were used for stabilization of reduced segments. In all patients, accurate reduction was obtained. None of the patients showed any recurrent displacement or infection during the follow-up period of six months. The screws were removed in the clinical settings without difficulty. Although percutaneous reduction and external fixation of noncomminuted zygomatic fractures has limited indications, it has its own advantages over open techniques. This method is a less invasive technique and can be performed without any problem in selected cases. Our technique is not suitable for complex zygomatic and periorbital fractures.

Congenital anomalies of the nasal septum, except septal deviation, constitute a small portion of all congenital nasal anomalies. In this report, we present a patient with congenital isolated absence of the quadrilateral cartilage of the nasal septum. Congenital septal anomalies are extremely rare, and congenital isolated absence of the quadrilateral cartilage has not been reported in the literature before.

Gorlin's syndrome is a genetic disorder of autosomal dominant inheritance with characterized primarily by five major findings: multiple basal cell carsinoma (BCC), jaw cysts, pits on the palms and soles, ectopic calcification of the falx cerebri and skeletal anomalies. BCC is the most frequently accompanied tumor with this syndrome. The risk of recurrent BCC with Gorlin's syndrome is higher than non-syndromic BCC. The authors present a 25-year-old man affected by recurrent basal cell carcinoma on the scalp. The patient was treated by excising the tumor and reconstructing latissimus dorsi musculocutaneous flap. The fascial component of the scalp forms an additional layer between the skin and the cranium. This structure creates an extra distance before the invasion into the cranium which needs to be penetrated by the skin tumor. Muscle tissue transformed in scalp reconstruction imitates the fascia layer in forming an additional layer against the invasion of skin tumors such as recurrent BCC into the cranium. Free flap reconstruction for recurrent scalp BCC can be best therapy model at Gorlin's syndrome.

Skin blistering and fragility are hallmarks of the rare hereditary disease called Epidermolysis Bullosa, affecting mainly the skin but also all mucocutaneous layers and sometimes the aerodigestive tract. Orofacial clefts are among the most common structural birth defects in humans, seen about 2 cases per 1000 births. This case report illustrates the closure of cleft lip and cleft palate in 13 month female with epidermolysis bullosa.

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare hereditary sensory neuropathy, comprising congenital insensitivity to pain, anhidrosis, and mental retardation. We present a 4-year-old child with CIPA and a calcaneal ulcer who was treated with double opposing rotation flaps, which eventually healed.

Surgical procedures for correction of craniofacial deformities resulted in unavoidable and extensive blood loss in small children and infants. Almost all of the patients undergoing these procedures will undergo a blood transfusion either during or immediately after the operation. A retrospective review of 30 patients who underwent craniofacial surgery was performed in this study to determine the magnitude of transfusion required for craniofacial surgery, document transfusion morbidity, and identify variables associated with the transfusion. The mean estimated blood loss was 566.8 mL, the mean intraoperative transfusion was 394.8 mL, the mean postoperative transfusion was 103.2 mL, and the mean total transfusion was 505 mL. The mean operative time was 450 minutes, the mean preoperative hemoglobin and the mean postoperative hemoglobin before hospital discharge were 11.6 g/dL and 10.3 g/dL, respectively. Craniofacial surgical procedures involve extensive scalp dissection and calvarial and facial bone osteotomies in patients with a low total blood volume. Every medical and surgical strategy for minimizing the need for blood transfusion should be considered.

Objective The traditional treatment for patients with syndromic craniosynostosis and midfacial retrusion has consisted of Le Fort III osteotomy and advancement. Distraction with rigid external systems allows advancement of the midface segment much more than the conventional methods. This excessive advancement resulted in the superiormost margin of the advancement segment becoming prominent. It can be felt easily with palpation and may influence the appearance of the patient negatively. This article presents a procedure osteotomy designed to modify the osteotomy lines at the lateral orbital rims and smooth the step deformity at the lateral canthal region. Results The seesaw osteotomy produced a smooth contour at the lateral orbital rim. Planned advancement was achieved without difficulty and without adverse long-term effects.

Isolated fractures of the supraorbital rim are rarely seen. In this report, an isolated supraorbital rim fracture is presented in which the segment of the rim was completely removed from its location onto the frontal bone in a traffic accident. It was thought to be a foreign body and was delivered outside the scalp in the emergency service. It was replaced 24 hours after the trauma, and the patient healed without any problem.

Distraction osteogenesis has become an al-ternative technique for treatment of craniofa-cial dysplasias. The success of the halo distrac-tion device in the treatment of severe maxillaryhypoplasia associated with cleft palate patientshas led to the application of this device to treatmany more complex craniofacial anomalies.