Crouzon Syndrome Research Articles

Racial disparity in orbital morphology and spatial relations in unoperated Crouzon patients

The altered orbital morphology of patients with Crouzon syndrome could have an impact on the planning of treatment in diverse populations, in spite of the confounding influences of different cranial suture synostosis. This study attempted to explore the differences in orbital characteristics between Asian, Caucasian patients with Crouzon syndrome, associated pansynostosis. Eighty-six preoperative computed tomograms (CT) were included (Asian Crouzon syndrome: n=10; Asian controls: n=24; Caucasian Crouzon syndrome: n=19; Caucasian controls: n=33) and measured using Mimics software (Materialise). Unique cephalometric measurements related to orbital morphology and position were designed. Crouzon syndrome and race both have interactive effects on protrusion of the globe (p=0.009) and medial horizontal angle (p=0.012) in the assessment of orbital morphology. They also interact in the width of the ethmoid sinus (p=0.009) and influence bilateral orbital relations. The anteroposterior orbital roof in Caucasian patients with Crouzon syndrome was shortened by 4.09mm (p=0.002) compared with Caucasian controls. However, in Asian patients this dimension developed normally. The anteroposterior orbital floor was significantly reduced to a similar extent in both Asian and Caucasian Crouzon patients (both p<0.001). The visual axes in Caucasian patients with Crouzon showed more inferior rotation, by 4.38° (p=0.031) than they did in Caucasian controls, but did not achieve a statistically significant difference in other comparisons. The effect of Crouzon syndrome on orbital malformation and placement is influenced by race, especially structures related to the ethmoid sinus. Asian patients need greater infraorbital advancement for better correction of orbital proptosis and aesthetic benefits, but may require less fronto-orbital advancement than Caucasian patients.

Surgical Management of FGFR2 Mutation-Related Syndromic Craniosynostosis: Retrospective Review of a 45-Year Experience By a Single Surgeon

PURPOSE: Mutations in the fibroblast growth receptor 2 (FGFR2) gene have been identified in syndromic craniosynostosis syndromes such as Apert, Crouzon, and Pfeiffer syndrome. Patients have severe malformations of the skull and face requiring multiple complex reconstructive procedures. As described by Paul Tessier, surgical correction of such patients is performed for 3 main reasons: functional, morphologic, and psychological. The surgical treatment algorithm has evolved over time. Despite numerous articles describing treatment of syndromic craniosynostosis, there are few reports of long-term results. Long-term follow up of patients after midface surgeries is important for evaluating which techniques result in consistent favorable outcomes, and which should be improved. We present a retrospective review reporting surgical procedures performed by a single surgeon in patients with Apert, Crouzon, and Pfeiffer Syndrome over a period of 45 years, with the intent to delineate procedures that have been effective over time. We also present our surgical treatment algorithm for pediatric patients with FGFR2 mutation–related syndromic craniosynostosis based on the senior author’s experience. METHODS: A retrospective review was performed of all patients with FGFR2 mutation–related syndromic craniosynostosis that underwent reconstruction for craniofacial defects, as performed by the senior author between 1975 and 2020. Patients without syndromic craniosynostosis were excluded. Inclusion criteria was limited to Apert, Crouzon, and Pfeiffer syndromes. Surgical procedures and complications were recorded for patients at all stages of the reconstructive process. RESULTS: A total of 68 patients were identified who had complete records for evaluation, including 30 patients with Apert syndrome, 27 patients with Crouzon syndrome and 11 patients with Pfeiffer syndrome. The average patient age was 30±15.8 years, with a range of 3–77 years of age. Mean long-term follow-up after initial surgery was 10.5 ± 10.1 years. Primary procedures performed for correction of craniofacial deformities included posterior distraction or expansion (10.3%), frontal expansion (14.7%), fronto-orbital advancement (39.7%), facial bipartition (11.8%), Le Fort III (19.1%), and Le Fort I (23.5%). Mean ages at which procedures were performed were 1.5 ± 1.6 years for posterior distraction or expansion, 1.1 ± 1.2 years for fronto-orbital advancement, 6.2 ± 3.8 years for monobloc frontoacial advancement, 4.6 ± 1.8 years for monobloc frontofacial advancement with facial bipartition, 13.2 ± 8.2 years for Le Fort III, and 17.0 ± 3.8 years for Le Fort I. Additional procedures commonly used included nasal bone grafts (25.0%) and lateral canthopexies (19.1%). CONCLUSIONS: This study, with an extensive long-term follow-up period, presents a pediatric surgical treatment algorithm for patients with FGFR2 mutation–related syndromic craniosynostosis. Our treatment algorithm entails a posterior distraction or expansion and fronto-orbital advancement at 6 months, monobloc frontofacial advancement ± facial bipartition at age 6 or 7, or a Le Fort III if morphologically indicated, and in most cases, a Le Fort I at age 17 or 18. Although multiple reconstructive procedures are necessary, complications are rare. This treatment algorithm results in good results in adolescence, allowing patients to integrate into mainstream life. However, patients tend to prematurely age, a problem that is not addressed by the current pediatric surgical treatment algorithm. Future directions include defining aesthetic surgical management of adults.

Racial Disparity of Crouzon Syndrome in Skull and Orbit Morphology, and Their Spatial Relationships

BACKGROUND: Racial disparity in pathological consequences in skull and orbit growth may impact the treatment plan for different patient populations. This study explores skull anatomy for potential differences between Asian and Caucasian cranial morphology in Crouzon syndrome. METHOD: Ninety-one computed tomographic scans were included (Asian Crouzon, n = 12; Asian controls, n = 22; Caucasian Crouzon, n = 16; Caucasian controls, n = 41), and measured using Mimics and 3-matics software. Unique cephalometric measurements related to the orbit were designed. RESULTS: The entire cranial base length was reduced 11.92 mm (P = 0.004) in Asian Crouzon patients, and 14.58 mm (P < 0.001) in Caucasian Crouzon patients, compared with respective controls. The cranial base angle on the facial side of basicranium was more narrowed in Crouzon syndrome in both races, with similar changes of degrees (9.61°, P = 0.002, in Asian Crouzon; 9.20°; P = 0.019, in Caucasian Crouzon). However, the intracranial side was statistically more narrowed only in the Asian group (9.86°; P = 0.003). Both Asian and Caucasian Crouzon patients developed reduced posterior fossa volume, by 15% (P = 0.034) and 17% (P = 0.004), respectively. However, Caucasian Crouzon patients developed a more shortened anterior and middle cranial base than that of Asian patients. The separation of lateral pterygoids was only significantly increased in Caucasian patients (5.49°; P < 0.001). The orbital roof anteroposterior length of Caucasian Crouzon syndrome patients was shortened by 4.03 mm (P = 0.009) compared with Caucasian controls. However, this dimension in Asian patients developed normally. The orbital anteroposterior floor length significantly reduced in both Asian and Caucasian Crouzon syndrome patients, to a similar extent. The medial horizontal angle of single orbit was narrower in Asian patients, compared with Asian controls (19.24°; P = 0.002), yet only insignificantly reduced in Caucasian patients. The visual axes of Caucasian Crouzon syndrome patients had more inferior rotation, by 5.21° (P = 0.005) than in Caucasian controls but did not achieve a statistically significant difference in other comparison pairs. A widened ethmoid sinus is the major shortening in the restricted orbit cone angle in Asian Crouzon syndrome patients, while statistically significant widening of the sphenoid is noted only in Caucasian patients. CONCLUSION: The influence of Crouzon syndrome on cranial and orbital malformation is race influenced. Asian Crouzon patients developed more kyphotic basicranium evaluated intracranially, whereas Caucasian Crouzon patients developed more widened lateral pterygoid bones. The unaffected orbital roof length and shortened orbital floor in Asian Crouzon syndrome patients indicates the Lefort III osteotomy probably is more beneficial in this group of patients than in monobloc advancement.

Racial Disparity Between Asian and Caucasian Crouzon Syndrome in Skull Morphology.

Racial disparity in pathological consequences in skull growth may impact the treatment plan for different patient populations. This study attempts to explore the differences between Asian and Caucasian cranial morphology in Crouzon syndrome. Ninety-one computed tomographic scans were included (Asian Crouzon syndrome, n = 12; Asian controls, n = 22; Caucasian Crouzon syndrome, n = 16; Caucasian controls, n = 41), and measured using Mimics and 3-matics software. The entire cranial base length was reduced 11.92 mm (P = 0.004) in Asian Crouzon patients, and 14.58 mm (P < 0.001) in Caucasian Crouzon patients, compared to respective controls. The cranial base angle on the facial side of basicranium was more narrowed in Crouzon syndrome in both races, with similar changes of degrees (9.61°, P = 0.002, in Asian Crouzon; 9.20°, P = 0.019, in Caucasian Crouzon). However, the intracranial side was statistically more narrowed only in the Asian group (9.86°, P = 0.003). Both Asian and Caucasian Crouzon patients developed reduced posterior fossa volume, by 15% (P = 0.034) and 17% (P = 0.004), respectively. However, Caucasian Crouzon patients developed a more shortened anterior and middle cranial base, than that of Asian patients. The separation of lateral pterygoids was only significantly increased in Caucasian patients (5.49°, P < 0.001). Crouzon syndrome causes a shortened, widened, and kyphotic cranial base across both races. It also restricts the development of the posterior cranial fossa. However, the skull malformation is not the same between populations: Asian Crouzon patients developed more narrowed cranial base angulation on the intracranial side of basicranium, while Caucasian Crouzon patients developed more widened lateral pterygoids.

Congenital nasolacrimal duct obstruction update study (CUP study): Paper II - Profile and outcomes of complex CNLDO and masquerades

ObjectiveTo assess the profiles and outcomes of complex congenital nasolacrimal duct obstruction (C-CNLDO). MethodsRetrospective interventional case-series was performed on patients diagnosed with C-CNLDO and managed at a tertiary care Dacryology Institute from Jan 2016 to June 2019. Complex CNLDO was diagnosed based on intraoperative findings during probing and are defined as entities where CNLDO is secondary to, or associated with complex embryonic entities like buried probe, mal-development or non-development of bony NLD, additional proximal lacrimal dysgenesis, atonic sac, or associated craniofacial syndromes and craniofacial dysostosis. The parameters studied include patient demographics, clinical presentation, types of C-CNLDO, management modalities, and outcomes. Success was defined as the subjective resolution of epiphora and discharge with objective measures of normal tear meniscus height and dye clearance on fluorescein dye disappearance test. For patients who underwent a dacryocystorhinostomy (DCR), a minimum follow-up of 1-year post-DCR was considered for outcome analysis. ResultsOf the 2714 cases of CNLDO managed during this period, 482 (17.75%) were diagnosed as complex CNLDO. C-CNLDO showed predilection to the male gender (60.3%, 291/482). A significant number of patients (40.2%, 194/482) presented beyond 36 months of age. The common subtypes of C-CNLDO were atonic sacs (33.8%, 163/482), buried probes (19.7%, 95/482), and associated proximal lacrimal drainage anomalies (11.2%, 54/482). Since C-CNLDO is usually confirmed during the initial endoscopy-guided probing, the managements varied based on the type of C-CNLDO. Silicone intubation and/or balloon dacryoplasty (BDCP), and/or additional minimally invasive procedures were added to the initial endoscopy-guided irrigation and probing based on the nature of C-CNLDO. The overall resolution rate with these non-bypass modalities was 72.6% (350/482). Although the success rates start dropping in C-CNLDO patients beyond 3-years of age, significant success rates with multi-modal (non-bypass) management were noted in age-groups 3–5 years (71.8%, 79/110) and encouraging results (38.5%, 27/70) in 5–10 years age group. The anatomical and functional outcomes in those who underwent endoscopic or external dacryocystorhinostomy with a follow-up beyond 1-year was 96.4% (55/57). ConclusionThe age at presentation is delayed in patients with C-CNLDO. Multi-modal endoscopy-guided management facilitates the identification of several sub-types of C-CNLDO, and achieves significantly high favourable outcomes in older children. C-CNLDO refractory to probing, intubation and BDCP demonstrates high success with external or endoscopic dacryocystorhinostomy.

Genetic background dependent modifiers of craniosynostosis severity

Craniosynostosis severity varies in patients with identical genetic mutations. To understand causes of this phenotypic variation, we backcrossed the FGFR2+/C342Y mouse model of Crouzon syndrome onto congenic C57BL/6 and BALB/c backgrounds. Coronal suture fusion was observed in C57BL/6 (88% incidence, p < .001 between genotypes) but not in BALB/c FGFR2+/C342Y mutant mice at 3 weeks after birth, establishing that that the two models differ in phenotype severity. To begin identifying pre-existing modifiers of craniosynostosis severity, we compared transcriptome signatures of cranial tissues from C57BL/6 vs. BALB/c FGFR2+/+ mice. We separately analyzed frontal bone with coronal suture tissue from parietal bone with sagittal suture tissues because the coronal suture but not the sagittal suture fuses in FGFR2+/C342Y mice. The craniosynostosis associated Twist and En1 transcription factors were down-regulated, while Runx2 was up-regulated, in C57BL/6 compared to BALB/c tissues, which could predispose to craniosynostosis. Transcriptome analyses under the GO term MAPK cascade revealed that genes associated with calcium ion channels, angiogenesis, protein quality control and cell stress response were central to transcriptome differences associated with genetic background. FGFR2 and HSPA2 protein levels plus ERK1/2 activity were higher in cells isolated from C57BL/6 than BALB/c cranial tissues. Notably, the HSPA2 protein chaperone is central to craniofacial genetic epistasis, and we find that FGFR2 protein is abnormally processed in primary cells from FGFR2+/C342Y but not FGFR2+/+ mice. Therefore, we propose that differences in protein quality control responses may contribute to genetic background influences on craniosynostosis phenotype severity.

Assessment of long-term quality of life in patients with syndromic craniosynostosis

Several studies have analyzed the long-term stability of cranioplasty and midface distraction in patients with craniosynostosis; however, few studies have investigated long-term quality of life (QOL) and complications in adults with syndromic craniosynostosis. This study aimed to investigate the QOL (social, physical, and psychosocial) of patients with adult syndromic craniosynostosis. Patients aged ≥20 years with syndromic craniosynostosis, who were surgically treated at a single craniofacial institution, were included in this study. We investigated everyday inconvenience (using the World Health Organization Disability Assessment Schedule questionnaire), any ongoing treatment, marital status, and number of children. Totally, 18 patients aged 22-48 years (mean: 31.4 ± 9.2 years) answered the questionnaire (Crouzon syndrome, 9; Apert syndrome, 5; Pfeiffer syndrome, 4). Of these, only one Crouzon syndrome patient was married; she was also the only one with a child. Apert syndrome patients were found to have difficulty in understanding, communication, and self-care because of their mental retardation and hand and foot handicaps; however, their participation in society was the most aggressive. In contrast, Crouzon syndrome patients had especially poor participation in society. In all patients, any ongoing hospital treatment was due to ophthalmological conditions. Crouzon syndrome patients have extremely poor QOL; the absence of mental retardation and hand and foot handicaps forces them to live in mainstream society, for which they are emotionally ill-equipped. It is necessary to treat these patients without any residual deformity to provide psychological support and to create an accepting society.

Sphenoid Bone Structure and Its Influence on the Cranium in Syndromic Versus Nonsyndromic Craniosynostosis.

Little is known about the detailed growth of the sphenoidal and temporal bones, even though they contribute significantly to the cranial base and cranial fossa skeletons. They also serve to connect the cranial vault with facial structure. This study details their morphologic development in isolated bicoronal synostosis and associated syndromes. Eighty-one CT scans were included (nonsyndromic bicoronal synostosis, n = 28; Apert syndrome associated with bicoronal synostosis, n = 19; Crouzon syndrome associated with bicoronal synostosis, n = 8; and controls, n = 26), and measured using Materialize software. Sphenoidal and temporal bone volumes in nonsyndromic bicoronal synostosis are reduced 23% (P = 0.005) and 24%(P = 0.003) at 6 months of age, compared to controls. Apert and Crouzon syndrome patients developed similar reduced volumes. The greater wing of the sphenoid and pterygoid processes in nonsyndromic bicoronal synostosis are initially inferiorly rotated at 2 months of age, by 9.60° (P = 0.002) and 4.33° (P = 0.023), respectively. In Apert syndrome, these rotations were reduced by 4.82° (P = 0.003) and 12.60° (P < 0.001), (like Crouzon syndrome). However, in Apert syndrome, the length of pterygoid processes is shortened by 11% (P = 0.018) compared to nonsyndromic bicoronal synostosis. Crouzon syndrome skulls did not develop a statistically significant shortening relative to nonsyndromic bicoronal synostosis. Mediolateral expansion of the sphenoid in nonsyndromic bicoronal synostosis was less than normal (P = 0.023), and it was further reduced in syndromic skulls. Isolated bicoronal synostosis tends to reduce the volume of sphenoidal and temporal bones, and inferior and posterior rotation of the entire sphenoid. Syndromic conditions restrict sphenoidal rotation, and limit the expansion of sphenoidal greater wing and pterygoid plate.

Simulation Surgery Using 3D 3-layer Models for Congenital Anomaly.

We made 8 models. The models consisted of 2 models of 2 cases with Crouzon disease, 1 model of Binder syndrome, 1 model of facial cleft, 2 models of one case with Goldenhar syndrome, 1 model of cleft lip and palate, and 1 model of the hemifacial macrosomia. We could try several methods, could recognize whether the graft size is adequate, and could visualize the change of the facial contour. We could analyze how to approach the osteotomy line and actually perform osteotomy. The changes of the lower facial contour can be observed. We grafted the models of the graft and confirmed that the incisions could be closed well. We were able to visualize the change in the soft tissue contour by simulating distraction. The most versatile merit of our models is that we could visualize the change of the soft tissue by movement of the hard tissue with bone graft, distraction osteogenesis, and so on. We must improve the model further to make it more realistic.

Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study.

Syndromic craniosynostoses are defined by the premature fusion of one or more cranial and facial sutures, leading to skull vault deformation, and midfacial retrusion. More recently, mandibular shape modifications have been described in FGFR-related craniosynostoses, which represent almost 75% of the syndromic craniosynostoses. Here, further characterisation of the mandibular phenotype in FGFR-related craniosynostoses is provided in order to confirm mandibular shape modifications, as this could contribute to a better understanding of the involvement of the FGFR pathway in craniofacial development. The aim of our study was to analyse early mandibular morphology in a cohort of patients with FGFR2- (Crouzon and Apert) and FGFR3- (Muenke and Crouzonodermoskeletal) related syndromic craniosynostoses. We used a comparative geometric morphometric approach based on 3D imaging. Thirty-one anatomical landmarks and eleven curves with sliding semi-landmarks were defined to model the shape of the mandible. In total, 40 patients (12 with Crouzon, 12 with Apert, 12 with Muenke and 4 with Crouzonodermoskeletal syndromes) and 40 age and sex-matched controls were included (mean age: 13.7months ±11.9). Mandibular shape differed significantly between controls and each patient group based on geometric morphometrics. Mandibular shape in FGFR2-craniosynostoses was characterized by open gonial angle, short ramus height, and high and prominent symphysis. Short ramus height appeared more pronounced in Apert than in Crouzon syndrome. Additionally, narrow inter-condylar and inter-gonial distances were observed in Crouzon syndrome. Mandibular shape in FGFR3-craniosynostoses was characterized by high and prominent symphysis and narrow inter-gonial distance. In addition, narrow condylar processes affected patients with Crouzonodermoskeletal syndrome. Statistical analysis of variance showed significant clustering of Apert and Crouzon, Crouzon and Muenke, and Apert and Muenke patients (p<0.05). Our results confirm distinct mandibular shapes at early ages in FGFR2- (Crouzon and Apert syndromes) and FGFR3-related syndromic craniosynostoses (Muenke and Crouzonodermoskeletal syndromes) and reinforce the hypothesis of genotype-phenotype correspondence concerning mandibular morphology.

Posterior Distraction Using Springs in Syndromic and Multisuture Craniosynostosis: Improving the Technique.

Posterior distraction is the preferred surgical treatment for particularly Apert and Crouzon syndrome in most craniofacial centers, using either external distractors or springs. The authors prefer the use of springs and have adapted their technique to further improve outcomes. All patients who were treated with the adapted technique for occipital expansion using springs were included. The most significant adaption that the authors introduced in 2017 is using a bony hinge at the top of the vault instead of at the caudal edge of the occiput. A total of 8 posterior expansions with springs were performed. No complications occurred and the springs were also successfully applied in cases with extremely thin bone. If indicated, a simultaneous foramen magnum decompression was performed and this was easier to combine with a hinge at the top of the vault. Posterior distraction with springs is a safe and effective procedure and allows a simultaneous foramen magnum decompression. Planning the hinge at the vault allows intracranial volume gain at the site of the posterior skull base.

Circummaxillary Sutures in Patients With Apert, Crouzon, and Pfeiffer Syndromes Compared to Nonsyndromic Children: Growth, Orthodontic, and Surgical Implications.

To evaluate patency of circummaxillary sutures in children with Apert, Crouzon, and Pfeiffer Syndromes and to compare it to a nonsyndromic matched control group. Case-control study. Tertiary care public hospital. Thirty-eight computed tomography (CT) scans of patients affected by syndromic craniofacial synostosis (13 patients with Apert syndrome, 20 patients with Crouzon syndrome, and 5 patients with Pfeiffer syndrome), average age 5 ± 2.8 years, range 1.9 to 12 years, were compared to age- and sex-matched control CTs of 38 nonsyndromic children. Computed tomography scans of the study group had to be performed prior to any midfacial surgery. Midpalatal suture, zygomaticomaxillary sutures, and pterigomaxillary sutures were evaluated and scored. The syndromic group showed a significant earlier ossification of all sutures compared to the nonsyndromic group. Significant differences were already present in early childhood and continued through adolescence. Based on the differences in terms of maxillary sutural ossification identified, midfacial hypoplasia does not seem to be only secondary to premature cranial base ossification, but also to primary synostosis of facial sutures, thus providing new insights into the pathogenesis of midface deficiency in children with craniofacial-synostosis. Care should be taken when planning any maxillary orthopedics, such as expansion or maxillary protraction, given the high frequency of early fusion of circummaxillary sutures.

A MOUTH FULL OF TEETH: A CASE REPORT

<h3>Background</h3> An increase in the number of teeth is termed <i>supernumerary teeth</i>.¹^,² These teeth can be present both unilaterally or bilaterally, in one jaw, or in both jaws.² In the maxilla, the anterior region is the most common location, and a solitary tooth in the midline is referred to as <i>mesiodens</i>. However, supernumerary teeth are more often seen in the mandible, especially in the premolar region, and are referred to as <i>peridens</i>.¹^,² Supernumerary teeth distal to the molars are referred to as <i>distodens</i>.² This type of dental anomaly is commonly associated with developmental disorders, such as Gardner syndrome and cleidocranial dysplasia.²^,³ The excess number of teeth affects both the primary and permanent dentitions. It more commonly affects the permanent dentition and usually interferes with the eruption pattern, leading to malposition, crowding, ectopic eruption, and malocclusion.¹^,² <h3>Clinical and Radiographic Presentation</h3> A 9-year-old female with multiple impacted supernumerary teeth was referred by an orthodontist requesting a cone beam computed tomography (CBCT) scan for evaluation of impacted teeth. According to the clinic notes from the orthodontist, the patient was not complaining of any pain and had not been previously diagnosed with any medical disorder. There was no concerning medical history reported for the patient. The family history revealed that the patient's mother was deaf. The CBCT scan revealed multiple impacted permanent and supernumerary teeth in the jaws. On the basis of the radiologist's recommendation, the patient was referred to the University of Iowa Hospital and Clinic for genetic tests to rule out a possible underlying disorder. <h3>Differential Diagnosis</h3> Cleidocranial dysplasia, Gardner syndrome, Apert syndrome, and Crouzon syndrome were considered. <h3>Diagnosis and Management</h3> The CBCT scan revealed 19 impacted supernumerary teeth, apart from the impacted permanent teeth. The scan also showed a dentigerous cyst around the unerupted permanent mandibular right first molar. The image revealed multiple open sutures. A chest radiograph revealed marked variations in the clavicles bilaterally. On genetic testing, in addition to the findings from the scan, led to the diagnosis of cleidocranial dysplasia. The patient is currently scheduled for systematic removal of the supernumerary teeth as part of the comprehensive treatment plan. <h3>Discussion</h3> This case demonstrates the crucial role and importance of interpretation of CBCT volumes by a radiologist and the immense benefit of interdisciplinary care provided to a patient. CBCT is an excellent imaging tool to evaluate the location of teeth and aids in the treatment plan by revealing incidental findings that could be life changing for a patient and by enabling better patient care and outcomes.

Editorial introductions

Current Opinion in Otolaryngology & Head and Neck Surgery was launched in 1993. It is one of a successful series of review journals whose unique format is designed to provide a systematic and critical assessment of the literature as presented in the many primary journals. The fields of otolaryngology and head and neck surgery are divided into 11 sections that are reviewed once a year. Each section is assigned a Section Editor, a leading authority in the area, who identifies the most important topics at that time. Here we are pleased to introduce the Journal's Section Editors for this issue. Section Editors David A. ShayeDavid A. ShayeDr David Shaye is a Facial Plastic & Reconstructive surgeon at Massachusetts Eye & Ear and an Assistant Professor of Otolaryngology-Head & Neck Surgery at Harvard Medical School. He earned his undergraduate degree in physics at Hamilton College, going on to become a U.S. Department of State Fulbright Scholar studying HIV/AIDS in Dominica. He earned his medical degree at Albany Medical College and completed a residency in Otolaryngology–Head & Neck Surgery at the University of California at Davis. Dr Shaye completed his fellowship in facial plastic and reconstructive surgery at the University of Minnesota. Dr Shaye focuses his research on global surgery, the delivery of surgical services to areas with limited resources. Specific research interests include cleft lip and palate, facial trauma, and surgical solutions in resource poor settings. Dr Shaye works with Doctors Without Borders in Nigeria, performing reconstructive surgery on children with Noma, a devastating oral facial gangrene that affects impoverished populations. He performs surgery for children with cleft lip and palate deformities in Zimbabwe, has collaborative research programs in Nepal to improve surgical access to remote regions, and has worked with the AO Alliance Facial Trauma Teaching Program to foster improved trauma education throughout low resource settings. Dr Shaye, his wife and 3 daughters relocate to Rwanda for 3 months per year where he operates and serves as faculty at the Central University Teaching Hospital in Kigali. Sherard A. TatumSherard A. TatumDr Tatum has dedicated his career to the reconstruction of children and adults with deformities of the face, head, and neck. He completed his undergraduate work at Rollins College in Winters Park, Florida, USA. He earned his medical degree at the University of South Florida, College of Medicine in Tampa, Florida, USA. He continued on to his residency in General Surgery and Otolaryngology at the Eastern Virginia Medical School in Norfolk, Virginia, USA. After his residency training, he went on to complete two fellowship years, one in craniomaxillofacial surgery at the University of Eppendorf in Hamburg, Germany, and one in facial plastic and reconstructive surgery at the University of California Davis Medical Center in Sacramento, USA. He is Board Certified in both otolaryngology and facial plastic and reconstructive surgery. He has been at the State University of New York Upstate Medical University, USA, since 1992, and is currently Interim Chair of Otolaryngology and Professor in Otolaryngology and Pediatrics. He is the Medical Director of the Central New York Cleft and Craniofacial Center, USA. He is Co-Director of the Craniomaxillofacial Surgery fellowship. He has given over 240 presentations and has authored, co-authored, or edited over 190 publications. He is active in the American Academy of Facial Plastic and Reconstructive Surgery, the American Academy of Otolaryngology – Head and Neck Surgery, and the American Cleft Palate – Craniofacial Association. He is or has been on the editorial boards of the Archives of Facial Plastic and Reconstructive Surgery and Current Opinion in Otolaryngology & Head and Neck Surgery. He specializes in cleft lip and cleft palate repair, orthognathic surgery, correction of craniosynostosis, and craniofacial syndromes such as Crouzon syndrome, Treacher Collins syndrome, Velo-cardio-facial syndrome, Pierre Robin sequence, and many others. He also performs trauma repair and reconstruction. He has been honored by Best Doctors in America, Patient's Choice, America's Best Physicians, and America's Top Plastic Surgeons. Dr Tatum has taken his expertise overseas to help children in Ekaterinaburg, Russia; Linyi, China; Ecuador; El Salvador, Vietnam, and Moldova. He has also traveled to Zagrab, Croatia, to do reconstructive work on those injured by the war. He has received service awards from the Onondaga County Medical Society, the American Academy of Facial Plastic and Reconstructive Surgery and the American Academy of Otolaryngology – Head and Neck Surgery for this work.

Crouzons syndrome- A rare genetic disorder

Background: Crouzon syndrome is a rare genetic autosomal dominant disorder characterized by distinctive malformations of the skull and cranio-facial region. Case Description: The parents of a 7 years old boy reported with a complaint of pain in the upper front and back teeth region since 3-4months. He also presented with typical features of craniofacial deformity, maxillary hypoplasia, exophthalmos, hypertelosrism, ptosis are present among other manifestations. The overall presentation gave an indication towards a clinical diagnosis of Crouzon’s syndrome. This case report describes the different clinical features and management under general anesthesia of a pediatric patient who reported with characteristic findings of this syndrome. Conclusion: This case report emphasizes the important role of a pediatric dentist in diagnosing such syndrome and to provide corrective measure along with co-ordination of a multi-disciplinary team. The team may comprise a geneticist, neurosurgeon, psychologist, speech and language therapist, nose surgeons and respiratory care specialist. Keywords: Crouzon, Cranio-facial deformity, Autosomal dominant disorder.

Advances in research on Crouzon syndrome and related ophthalmic complications

Crouzon syndrome is an autosomal dominant disorder characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. It is usually caused by a pathogenic mutation in the fibroblast growth factor receptor 2 gene and premature fusion of the sutures of the cranium and the base of the skull. This article documents the ophthalmic complications in patients with Crouzon syndrome before and after the influence of craniofacial surgery with particular emphasis on the different mechanisms and treatments involved. It is important to perform timely decompressive surgery before the presence of optic atrophy and corneal defects, and make early detection and adequate management of amblyopia, ptosis and strabismus. (Chin J Ophthalmol, 2020, 56: 544-548).

Alterations of upper airway volume caused by Le Fort III osteodistraction in children

PurposeThe aim of the study was to assess changes in the upper respiratory tract and sleep quality in patients who were suffering from midfacial hypoplasia and treated with the movement of underdeveloped middle segment of the face with an Le Fort III osteotomy and distraction. MethodsIn this study patients aged 7–19, suffering from Crouzon syndrome, Apert syndrome, or other craniosynostosis were treated with Le Fort III osteotomy and midface distraction. Patients were subjected to radiological examination and polysomnography before and after the treatment. Typical anthropometric points were identified on lateral cephalograms, and were used to take linear and angular measurements. The surface and the volume of the upper respiratory tract were measured with the Dolphin Imaging software. Apnoea Hypopnea Index (AHI) was used to assess the sleep quality. ResultsIn all 18 patients the analysis showed statistically significant changes of the AHI and in the linear, angular and volumetric measurements. Mean change of the volume of the upper respiratory tract was 12,4 ± 11,3cm3(p = 0,0001) and of the surface was 615 ± 521 mm2 (p = 0,0000000002). Mean improvement of AHI was 9 ± 6,2 (p = 0,00006). In three cases patients had tracheostomy prior to operation and none of them required tracheostomy after the operation. ConclusionsThe use of distraction osteogenesis of the middle segment of the face combined with Le Fort III osteotomy results in dilation of the upper respiratory tract at the nasopharyngeal level and at the soft palate level resulting in elimination of sleep and respiration disorders. Further studies with polysomnography are necessary, as well as observation of patients over time and monitoring of treatment stability.

Midface distraction osteogenesis using a modified external device and 3D virtual simulation: technical note.

Distraction osteogenesis (DO) with an external distraction device such as the rigid external distraction frame has become an established method for treating midface hypoplasia in faciocraniosynostosis. It allows for greater advancement of the midface in comparison with traditional Le Fort III osteotomies, associated or not with fronto-orbital osteotomies (Le Fort IV). However, the forward movement of the bone segments may not always be performed obeying an ideal distraction vector, resulting in asymmetries, anterior open bite, and loosening of screws. In addition, the cost of the distraction devices is significant and may preclude their routine use in developing countries. We present an alternative device and method for craniofacial advancement in a clinical case of Crouzon's syndrome. A 3D virtual simulation of the distraction vector and a modified external device were used in the current case. The alternative external device in this case proved to be safe, effective, and reliable.

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English

Long Term Speech Outcomes Following Midface Advancement in Syndromic Craniosynostosis.

Midface advancement by distraction osteogenesis (DO) is commonly performed in patients with craniosynostosis for indications including midface hypoplasia, exorbitism, obstructive sleep apnea, class III malocclusion, and overall aesthetic facial deficiency. There is evidence to suggest that maxillary LeFort I advancement increases the risk of velopharyngeal dysfunction in the cleft palate population, yet few studies have investigated changes in speech following LeFort III or monobloc midface advancement in patients with syndromic craniosynostosis. The purpose of this study was to examine the effect of midface DO on speech as indicated by the Pittsburgh Weighted Speech Score in patients with Apert, Crouzon, and Pfeiffer Syndrome. Among 73 midface advancement cases performed during the study period, 19 cases met inclusion criteria. Overall, the highest post-advancement Pittsburgh Weighted Speech Score (PWSS) was significantly higher than the pre-advancement PWSS (0.52 versus 2.42, P = 0.01), indicating an acute worsening of VPI post-advancement. Specifically, the PWSS components nasal emission and nasality were significantly higher post-advancement than pre-advancement (nasal emission: 1.16 versus 0.21, P = 0.02) (nasality: 0.68 versus 0.05, P = 0.04). However, there was no significant difference between pre-advancement PWSS and the latest post-advancement PWSS (P = 0.31). Midface distraction is associated with an acute worsening of VPI post-operatively that is followed by improvement, and often resolution over time. Future work with additional patient accrual is needed to determine the effect of different advancement procedures and syndromes on VPI rates and profundity.