Secondary metopic craniosynostosis after posterior cranial decompression in cloverleaf skull deformity.

Cloverleaf skull deformity or Kleeblattschadel syndrome is a severe condition where multiple cranial sutures are absent and prematurely fused, leading to a trilobate head shape. The remaining open sutures or fontanelles compensate for rapid brain expansion, while the constricted fused calvarium restricts brain growth and results in increased intracranial pressure. Recent data show that early posterior cranial and foramen magnum decompression positively affects infants with cloverleaf skulls. However, long-term sequelae are still rarely discussed. We hereby report a child who developed secondary metopic craniosynostosis after posterior cranial decompression, which required a front-orbital advancement and cranial remodelling as a definitive procedure.

Heterozygous FGFR3 c.138G>A Mutation Presenting With Achondroplasia and Hemifacial Microsomia.

We present a case of a patient with achondroplasia, hemifacial microsomia and an fibroblast growth factor receptor3 c.138G>A mutation. An association between the 2 conditions has not been previously described, but there is biological plausibility that the etiology of the 2 conditions is linked.

Multisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion.

Multisuture craniosynostosis is associated with a number of syndromes and underlying gene mutations. It is rarely caused by chromosome disorders. For the management, multisuture craniosynostosis raises concerns about abnormal head shape and risks of increased intracranial pressure in affected patients. Calvarial reconstruction to reshape the skull shape and expand the intracranial volume plays an essential role in correcting particular problems. Here, we report a 2-month-old female infant presenting with low birth weight, abnormal head shape, dysmorphic facies and pinnae, hypotonia, and feeding difficulty. Three-dimensional computed tomographic scans revealed left unicoronal and sagittal synostoses. Chromosome microarray analysis revealed de novo chromosome 14q32.12-q32.31 deletion. Among the deleted genes, YY1 and BCL11B are the most likely candidate genes causing craniosynostosis. Some clinical features of the patient are similar to Temple syndrome indicating that the deleted region is paternal in origin. In summary, this is a rare case of chromosome 14q32 deletion with multisuture craniosynostosis. We also report the multidisciplinary management and clinical outcomes after early cranial vault remodelling procedures.

Re-imagining early cloverleaf skull deformity management from front to back approach-30 years on.

The cloverleaf skull deformity remains among the most complicated craniofacial conditions to successfully manage. Many cases achieve largely unsatisfactory outcomes due to the requirement for frequent reoperation on the cranial vault and failure to deal with all the elements of the craniofaciostenosis in a timely fashion. Early cranial vault surgery without addressing the cranial base deformity and its attendant cerebrospinal fluid flow changes is invariably challenging and disappointing. A recent focus on the expansion of the posterior cranial vault as a primary procedure with the greater volume change allows a delay in fronto-orbital advancement and reduced need for repeat surgery. We herein describe three cases of complex multisuture craniosynostosis with cloverleaf skull deformity who underwent neonatal posterior cranial vault decompression along with foramen magnum decompression. Our report examines the safety and rationale for this pre-emptive surgical approach to simultaneously deal with the cranial vault and craniocervical junction abnormalities and thus change the early trajectory of these complex cases.

Facial Fractures in Indigenous and Non-indigenous Populations of South Australia.

INTRODUCTION: Maxillofacial trauma in indigenous populations is complex with sociocultural factors, access to health care, and poorer general health issues that impact outcomes. Assaults and road traffic accidents are disproportionately experienced by indigenous persons compared with non-indigenous. METHODS: A retrospective review was conducted from January 2012 to January 2017 at the Women and Children's Hospital and Royal Adelaide Hospital, Adelaide. All maxillofacial fractures that attended or were referred to the unit were included in this study. The primary objective was to analyze epidemiological trends of facial fractures and clinical outcomes in the South Australian indigenous and non-indigenous populations. RESULTS: Maxillofacial fractures in indigenous persons were less than in non-indigenous (31.2 versus 38.2 y, P < 0.001) with 3.8 odds of a facial fracture. Assault was 2.9 times more likely to result in a facial fracture, falls 40.9% less likely, and sports 29.4% less likely compared with non-indigenous ( P < 0.001). Alcohol-related facial fractures had significantly higher rates [odds ratio (OR = 3.8)] compared with non-indigenous. Indigenous from most disadvantaged areas and very remote areas also had significantly higher odds of a facial fracture. Indigenous persons had higher operative rates (OR = 2.8), postoperative complications (OR = 3.1), and a 3.7-day mean difference for the length of stay (6.6 versus 2.9 d, P < 0.001). CONCLUSIONS: Indigenous people are more likely to experience facial fractures from assault resulting in mandibular fractures, whereas non-indigenous people are likely to have sport or fall-related midface fractures. Young indigenous women from outer regional and very remote areas have greater odds of facial fractures caused by assault and alcohol with higher operative rates, postoperative complications, and extended length of stay.

Metopic and Sagittal Craniosynostosis in Williams Syndrome.

Craniosynostosis has been previously reported in patients with Williams syndrome. Due to the associated significant cardiovascular anomalies, with an attendant increased risk of death under anaesthesia, most patients have been managed conservatively. Here we report the multidisciplinary approach in a 12-month-old female infant with Williams syndrome who has metopic and sagittal craniosynostosis. The child successfully underwent calvarial remodelling procedures, with the clinical outcome demonstrating dramatically improved global development after surgery.

Proboscis Lateralis With Basal Encephalocele: A Report of Clinical Management and Reconstructive Approach.

Proboscis lateralis is a rare craniofacial anomaly in which a rudimentary nasal appendage arises at the medial canthal area. The severity depends on organ involvement, including eyes, nose, cleft lip/palate, and/or concomitant intracranial anomalies. Here, we present a child with proboscis lateralis and associated trans-ethmoidal encephalocele. We suggest doing the preoperative CT and/or MRI to rule out associated intracranial anomalies and reliably preoperative planning tools. Moreover, we proposed an alternative nasal reconstructive technique using a composite graft from the proboscis mass at the same time as encephalocele repair with promising results.

Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report.

Craniosynostosis is a condition of premature fusion of the cranial sutures. Multi-suture craniosynostosis has been found to be associated with a number of syndromes and underlying gene mutations. Tumour necrosis factor receptor-associated factors (TRAFs) are a family of adaptor proteins interacting with cell surface receptors or other signalling molecules. TRAF7 is one of the factors involved in multiple biologic processes, including ubiquitination, myogenesis and toll-like receptor signalling. Here, we report a child who presented with multi-suture craniosynostosis and had the uncommon c.1570C>T (p.Arg524Trp) variant of TRAF7.

The Impact of Lockout Laws on Maxillofacial Fractures in South Australia.

INTRODUCTION: Alcohol outlet density and unrestricted trading hours are strongly predictive of domestic and non-domestic assault rates, respectively. international studies report a strong male predominance for facial fractures. Harm minimization policies such as lockout laws have gained considerable attention to reduce accessibility of alcohol consumption and drinking patterns. METHODS: A retrospective review was conducted from January 2012 to January 2017 at the Women and Children's Hospital and Royal Adelaide Hospital, Adelaide. All maxillofacial fractures that attended or were referred to the unit were included in this study. The primary objective was to determine the impact of facial fracture presentations, particularly assaults, for the pre- and post-lockout periods. RESULTS: From 2012 to 2017, there was a 5.1% decrease in assaults per year ( P  = 0.002). Assaults increased by 11.7% for women and alcohol related assaults decreased by 10.2% for men ( P  < 0.05). Assault and alcohol related assault rates decreased by 9.3% and 10.5%, respectively, between lockout periods ( P  < 0.001). Comparative analysis between Adelaide and control (inner regional city) showed assaults decreased by 9.8% between lockout periods (51.2% versus 41.4%, P  < 0.001). Multivariate analysis showed alcohol, open reduction internal fixation and men were associated with a lower risk of assault related fractures, but women and night time presentations had a higher risk ( P  < 0.05). CONCLUSIONS: The influence of lockout laws contributed to an overall decrease in assaults and operative interventions, particularly alcohol related incidences amongst men. Ongoing longitudinal surveillance should guide current evidence for policy developers to reduce the risk of harm.

Secondary Surgery in Metopic Craniosynostosis: Outcomes in a Tertiary Care Craniofacial Center in Australia.

ABSTRACT: Metopic craniosynostosis is a condition in which the metopic suture is prematurely fused. Trigonocephaly and hypotelorism are the major abnormal findings associated with synostosis. Fronto-orbital advancement with cranial remodelling procedure is the widely practised method for correction of the deformities. Previously, a few studies have shown a low incidence of secondary raised intracranial pressure after the primary surgery. Thus, we reviewed our database to investigate the outcomes of metopic craniosynostosis treatment between 1999 and 2020 in Cleft and Craniofacial South Australia. One hundred twelve patients (77 males and 35 females) with metopic synostosis were operated. The mean age of primary surgery was 11.1 months (range 2.8-131.7 months). Ten patients (9%) who had secondary raised intracranial pressure underwent secondary surgery. Among those, the mean age of primary and secondary surgery were 5.4 and 57.1 months, respectively. Syndromic patients were significantly revealed to have a higher incidence of secondary raised intracranial pressure. There were three patients (2.7%) who had other secondary procedures (hardware removal and aesthetic contouring procedures). This cohort identified a higher incidence of secondary raised intracranial pressure requiring secondary surgery than previous studies. Syndromic patients were significantly related to secondary raised intracranial pressure. The patients who had raised intracranial pressure tended to have primary correction at younger age. Long-term multidisciplinary follow-up is mandatory. The demand for secondary surgery for metalwork complications or cosmetic contouring is uncommon.

Patterns of Mandibular Fractures in South Australia: Epidemiology, Treatment, and Clinical Outcomes.

INTRODUCTION: The mandible is one of the most common facial bones to be injured with great clinical variability across countries caused by assaults, road traffic accidents, and falls. METHODS: A retrospective review was conducted for adult mandibular fractures from January 2012 to January 2017 at the Royal Adelaide Hospital, Adelaide. Our aim was to describe epidemiological trends of mandibular fractures, differences for sex and age, and clinical outcomes. RESULTS: Five hundred sixty five adult patients presented with a mandibular fracture with a male predominance (4.5:1). The mean age was 34.2 years with men 11.9 years younger than females (32.0 versus 44.1 years, P   <  0.001). Assaults represented 58.2% of cases. A quarter of the cohort reported alcohol use. Assaults commonly resulted in angle and symphyseal fractures, whereas almost all falls and road traffic accident resulted in condylar or coronoid fractures. Young men were 1.9 times more likely to have mandibular fractures compared to women, whereas elderly men were 11.8% less likely ( P  < 0.001). The most common fracture was the angle (33.6%) and the angle/symphyseal (14.2%). Men were 2.5 times more likely to have surgery. The complication rate was 10.8% and the re-operative rate was 5.0%. Women had a significantly longer admission of 1.6 days compared to men (4.4 versus 2.8 days, P  = 0.003). CONCLUSIONS: Young men are more likely to have mandibular fractures from assaults and have surgery. Young women and elderly females are more likely to have animal and fall-related injuries resulting including in condylar fractures with associated injuries and extended length of stay.

Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care.

Pfeiffer syndrome is one of the autosomal dominant craniofacial syndromes. Classical clinical manifestations are coronal suture synostosis causing brachycephaly, midface retrusion, airway compromise, broad thumbs, and toes. Pfeiffer syndrome type I (classic type) is associated with FGFR1 mutation. However, wide range of clinical manifestations, with and without craniosynostosis, have been reported. Here, we present a family of Pfeiffer syndrome across 3 generations with identical FGFR1: c.755C>G (p.Pro252Arg) mutation. Where the members of the youngest generation have no cranial involvement. Lastly, we propose a guideline management for familial Pfeiffer syndrome management.

Fibrodysplasia Ossificans Progressiva: A Case Report with Pseudo-Ankylosis of the Temporomandibular Joint.

Fibrodysplasia ossificans progressiva (FOP) is a rare condition characterized by progressive heterotopic ossifications and congenital hallux valgus deformities. The common underlying genetic cause is an ACVR1 mutation, resulting in altered bone morphogenetic protein (BMP) regulation. Trauma and/or minor procedures aggravate the abnormal bony formation in soft tissues. This report presents a 3-year-old child with this condition who presented pseudo-ankylosis of the temporomandibular joint (TMJ) after minor craniofacial trauma. Abnormal ossification in the medial pterygoid muscle was identified as the causative abnormality for the presentation with trismus.

Incidence of persistent metopic suture in Australia: findings from 1034 three-dimensional computed tomography scans.

PURPOSE: To investigate the incidence of persistent, open metopic sutures in contemporary Australians aged 24 months and older. METHODS: Metopic suture evaluation was conducted on retrospective cranial/cervical computed tomography scans of patients aged 24 to 252 months who presented to the Women's and Children's Hospital in Adelaide, Australia, between 2010 and 2020. Suture ossification was graded according to Lottering scoring system based on 4 stages, on three-dimensional volume-rendered reconstructions (stage 1: fibrous tissue interface, stage 2: commenced fusion, stage 3: complete fusion and stage 4: obliterated suture). The complete persistent sutures were classified as stage 1. Partially closed sutures were classified into stages 2 and 3, while completely closed sutures were defined as stage 4. RESULTS: One thousand thirty-four patients (61.2% male and 38.8% female) were included, with a mean age at scan of 66 months. More than half of patients were subject to scanning due to closed-head injuries. The incidence of persistent (completely open) metopic suture was 4.8% (2.3% in males and 2.5% in females). In comparison, a partially closed metopic suture was found in 6.3% of the study cohort, with the remaining sutures located along the metopic suture line, at the glabella, mid-part of the suture, bregma and glabella-bregma areas. CONCLUSION: The prevalence of persistent metopic sutures in our study of the Australian population is 4.8%, and it is equally distributed between the genders. The pattern of suture closure can commence from any location along the suture line, which is in contrast to the existing literature.

Posterior Cranial Vault Manifestations in Nonsyndromic Sagittal Craniosynostosis.

ABSTRACT: Sagittal synostosis is the most common type of craniosynostosis. Sagittal suture fusion causes restriction of biparietal cranial vault growth, with expansion of the growing brain causing frontal bossing, an occipital bullet, and an elongated head shape. Due to the absence of studies focusing on the posterior cranial vault pattern in isolated sagittal craniosynostosis, we organized this study to characterize the posterior part of the cranial vault and its association with sagittal craniosynostosis. A retrospective study was conducted of isolated sagittal craniosynostosis patients who had undergone total cranial vault remodeling at the Cleft and Craniofacial South Australia (formerly known as the Australian Craniofacial Unit) between January 2018 and February 2020. Preoperative three-dimensional computed tomography (3D-CT) images were reviewed. The following parameters were evaluated: the cephalic index, lambdoid suture shape, lambdoid suture line pattern, presence of wormian bones along the lambdoid sutures and occipital fontanelle, presence of the mendosal suture, and angle at the tip of the join between the 2 lambdoid sutures. Thirty-nine 3D-CT scans of 32 males and 7 females were evaluated. The mean age when the patients underwent the 3D-CT imaging was 6.72 ±â€Š7.9 months. A high prevalence of mendosal sutures (74.4%) was significantly found in sagittal craniosynostosis. Adult-like types of lambdoid suture interdigitating patterns were also significantly associated with young patients with sagittal craniosynostosis. No associations between the remaining parameters and particular synostoses were revealed.

Neo-Sagittal Suture Formation After Cranial Vault Remodeling in Sagittal Craniosynostosis.

ABSTRACT: Craniosynostosis is a condition where the cranial sutures are early fused. Sagittal suture synostosis is found to be the most prevalent. Many techniques ranging from simple suture excision to wide suturectomy have been developed for treating this condition. While repeated fusion of previously excised involved sutures is common, neosuture formation has been identified in many recent reports after craniosynostosis surgery. In this case report, the authors present a finding of the neosuture formation in a patient presented with sagittal craniosynostosis after wide suturectomy with total cranial vault remodeling so that the pathologically fused suture can be reversed.

Bilateral Mastoid Process Hypertrophy Associated With Severe Trismus.

ABSTRACT: The mastoid process, a pneumatized prominence of the temporal bone with air-filled air cells, grows with age. We present here a series of 4 patients with bilateral mastoid hypertrophy associated with severe trismus from different etiologies, and discuss the possible explanation of this observation.

Secondary Raised Intracranial Pressure After Cranial Vault Remodeling for Isolated Sagittal Craniosynostosis.

ABSTRACT: The management of sagittal craniosynostosis has evolved over the decades as teams seek to refine their surgical approaches to idealize head shape with the least possible morbidity. Here, the authors identify the incidence of raised intracranial pressure (ICP) and its risk factors, requiring secondary surgical intervention after cranial vault remodeling (CVR) procedure at a single tertiary referral craniofacial unit. A retrospective case-control study was performed on the patients with isolated non-syndromic sagittal craniosynostosis. All patients who underwent CVR in our unit and had a minimum of 1.5 years follow-up were included. One hundred and eighty-four patients (134 male and 50 female) who underwent primary CVR surgery for isolated sagittal craniosynostosis were included. Thirteen patients (7.07%) had clinical evidence of late raised ICP resulting in repeat CVR procedures. Higher incidence of raised ICP in patients who had primary surgery before 6 months than after or at 6 months of age (P = 0.001). There were 23.5%, 5.6%, 3.2%, and 1.9% of secondary raised ICP patients who underwent the primary surgery between 1999-2004, 2005-2010, 2011-2015 and 2016-2018, respectively (P = 0.024). The risk of secondary raised ICP was higher in patients with isolated sagittal craniosynostosis whose primary surgery occurred before the age of 6 months (two times more likely). More extensive CVR can be performed safely in sagittal synostosis with promising outcomes. The late presentation with raised ICP reinforces the importance of long-term multidisciplinary protocol-based follow-up.

Pediatric Facial Fractures in South Australia: Epidemiology, Clinical Characteristics, and Outcomes.

INTRODUCTION: Facial fractures of children are relatively infrequent compared to adults. There are variations in facial fractures depending on the socioeconomic, cultural, and educational factors of the country and time. Our aim is to describe epidemiological trends of facial fractures in the pediatric population, understand differences amongst the age groups, and the impact this has on clinical outcomes and management in South Australia. METHODS: A retrospective review was conducted from January 2012 to January 2017 at the Women and Children's Hosptial, Adelaide. All facial fractures of children, aged 16 years and below, that attended or were referred to the unit were included in this study. RESULTS: A total of 265 pediatric patients presented with a facial fracture with a male predominance. Some 49.1% occurred from a sports-related injury with bicycle motocross as the single most common type of sport. The mandible was the common fracture type with 21.9% of the total cohort having an associated injury. There were significant differences between boys and girls for age, age groups, mechanism of injury, and type of sport (P < 0.05). Boys were 2.3 times more likely to have a sport-related facial fracture than girls. Early adolescence were 5.2 times more likely to have an orbitozygomatic fracture than children of early childhood (P < 0.05). Age, associated injuries, and sport-related facial fractures were independently associated with increased length of stay (P < 0.001). CONCLUSIONS: There are differences amongst boys and girls and an understanding of these differences can aid the diagnosis and management in a growing child's face.

Severe Cloverleaf Skull Deformity in c.1061C>G (p.Ser354Cys) Mutated Fibroblast Growth Factor Receptor 2 Gene in Crouzon Syndrome.

ABSTRACT: Cloverleaf skull deformity (CSD), or Kleeblattschädel, is a condition with severe and unpatterned multisuture craniosynostosis, resulting in a trilobar-shaped skull. This deformity mainly comprises a cranio-orbito-facial malformation that leads to a spectrum of multidisciplinary issues. Several syndromes are associated with CSD, such as Crouzon syndrome (CS). Here, we report the case of an infant with CS and the pathogenic c.1061C>G (p.Ser354Cys) variant of the fibroblast growth factor receptor 2 (FGFR2) gene. The child presented with the severe form of CSD despite having a normal, mid-trimester, sonographic scan.