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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.

High-velocity and high-impact forces can yield life-threatening injuries that are not only limited to the face but can involve other regions of the body. Associated injuries are more frequent in the elderly impacting management and outcomes. The primary objective was to study the association between associated injuries and age groups by identifying epidemiological trends and differences among the elderly and younger population.A retrospective review was conducted from January 2012 to January 2017 at the Royal Adelaide Hospital, Adelaide. A comparative analysis for elderly and younger controls was assessed for associated injuries, etiology, management, and length of stay.There were 355 elderly and 1884 younger controls for the study. There were differences between gender, alcohol, socioeconomic status, type of facial fracture, mechanism of injury, and associated injuries (p0.05). The elderly were 3.6 times more likely to have an associated injury compared to the younger cohort (p0.05). Total limb injuries were 2.2 times more likely in the elderly compared to the younger cohort, and neurological related injuries were 2.7 times more likely (p0.05). Neurological injuries were most frequent in fall-related injuries, limb injuries in RTA; and soft-tissue injuries for assault, sport, animal, and work (p0.001). The elderly had longer hospital stays as compared with younger controls (p0.05).Associated injuries are more frequent in the elderly and impact other bodily systems leading to a longer length of stay. In the assessment and management of facial trauma, anatomical and disciplinary boundaries may cross requiring interdisciplinary care.

Central giant cell granuloma (CGCG) is a rare tumour. The aetiology remains controversial with immunohistological features suggestive of inflammatory, vascular and proliferative markers. It is most often diagnosed in children and young adults under the age of 30 years with a predilection for the mandible. We herein present a case in a paediatric age group of a maxillary lesion of CGCG with a novel genetic translocation. A combination of surgical intervention including enucleation and embolization produced a good result. The importance of long term follow up for facial growth and recurrence is terribly important for the child.

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.

To investigate the incidence of persistent, open metopic sutures in contemporary Australians aged 24 months and older. 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. 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. 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.

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 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.

Organised and non-organised sports have shifted greatly over the past decade with variations in epidemiological trends for maxillofacial trauma. Our aim is to describe epidemiological trends of sport-related facial fractures in adults outlining the differences amongst gender, age groups, types of sports, and how this impacts clinical outcomes and management. A retrospective review was conducted from January 2012 to January 2017 at the Royal Adelaide Hospital, Adelaide. All sport-related facial fractures, aged 18 years and above, that attended or were referred to the unit were included in this study. Three hundred five sport participants presented with a facial fracture with a strong male predominance (7.5:1). Australian football league (AFL) was the most common sport (39.0%) to result in a facial fracture followed by cycling (13.1%). Younger men aged 18–45 years played AFL, whereas females aged 18–55 years engaged in cycling. Orbitozygomatic fractures were the most common facial fractures (33.1%). Associated injuries occurred in 6.9% of the cohort. There were significant differences between men and women for age, age groups, seasons, and type of sport (p

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 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.

With an ageing population, the elderly will increasingly represent a growing subgroup of trauma. A high-risk group with multiple comorbidities, decreased physiological reserves and frailty, this contributes to the complexity of management in facial trauma. Falls represent the most common presentation for facial-related injuries, but there are variations amongst gender that is important to aid diagnosis, management, and treatment plans. Our aim is to identify epidemiological trends of facial fractures in the elderly, understand differences amongst gender and elderly age groups, and the impact this has on clinical outcomes and management. A retrospective review was conducted from January 2012 to January 2017 at the Royal Adelaide Hospital, Adelaide. All facial fractures of the elderly, 65 years and above, that attended or were referred to the unit were included in this study. Three hundred fifty-five elderly patients presented with a facial fracture with falls (82.5%) as the most common mechanism of injury. The orbitozygomatic fracture was the most common type of facial fracture with 48.7% of the cohort sustaining an associated injury. There were differences between men and women for age, age groups, socioeconomic status, season, alcohol, mechanism of injury, and facial fractures (p

BACKGROUND Animal-related facial fractures can affect livelihoods impacting the hard and soft tissues of the face. Animal husbandry and recreational sports have close relationships with animals, which can lead to injuries equivalent to those of road traffic accidents and assaults. Our aim is to describe epidemiological trends of animal-related facial fractures in the paediatric and adult age group across South Australia. METHODS A retrospective review from January 2012 to January 2017 at the Women and Children's Hospital and Royal Adelaide Hospital in Adelaide. All animal-related injuries that attended or were referred to the unit were included in this study. RESULTS There were 50 patients who presented with an animal-related facial fracture. There was an equal distribution of males to females with horses as the most common animal to cause injury from kicking. The orbit and orbitozygomatic fracture equally represented the most common type of facial fracture with 38% of all cases having an associated injury. The operative rate was 56% with four post-operative complications. There were differences between males and females for season, post-operative complications and length of stay (P

Purpose Facial trauma in women is complex with physical, psychosocial, and cultural influences impacting clinical presentations. Although multifactorial, assaults and falls are principally reported as the main causes. 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 in women that attended or were referred to the unit were included in this study. The primary objective was to analyse epidemiological trends of facial fractures and clinical outcomes in the South Australian female population. Results There is a bimodal distribution of facial fractures at 25–35 years and 65 + years. Indigenous females were 19.5 years younger than non-indigenous females (30.5 vs 49.9, P P P Conclusions Young women disproportionately experience larger incidences of non-alcohol-related assaults requiring operative intervention of the mandible, whereas elderly women principally suffer fall-related facial fractures with higher rates of associated injuries.

Cloverleaf skull deformity (CSD), or Kleeblattschadel, 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.

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder caused by mutations in the Runx2 gene. The CCD is characterized by frontal bossing, a patent anterior fontanelle, presence of Wormian bones, midface hypoplasia, multiple dental abnormalities, clavicular hypoplasia or aplasia, skeletal abnormalities, and short stature. The aims of this study are to report the phenotypic manifestations of all patients who presented with CCD and to review the multidisciplinary management of these patients. The longitudinal data of patients with a diagnosis of CCD treated at The Australian Craniofacial Unit from 1980 to 2019 were reviewed. Fourteen patients were identified for inclusion in this study. The age at referral to the unit ranged from 1 week old to 49 years old (mean 11.2 years old). All patients had clinical features of frontal bossing, a patent anterior fontanelle, multiple Wormian bones, midface hypoplasia, abnormal dentition, clavicular hypoplasia/aplasia, and normal intellect. Eleven patients had obstructive sleep apnea. Eight patients had positive family history. Speech issues were found in 6 patients and abnormal hearing was found in 4 patients. Seven patients who underwent skeletal survey were found to have skeletal abnormalities. All patients were evaluated and managed by the multidisciplinary team, which consisted of craniofacial surgeons, pediatric dentists, orthodontists, ENT surgeons, pediatricians, clinical geneticists, radiologists, orthopedic surgeons, and social workers. All patients were treated by dentists/orthodontists requiring multiple surgical interventions and orthodontic treatment. Seven patients who had recurrent ear infection underwent ventilation tube insertion. Seven of 11 patients who had obstructive sleep apnea underwent adenotonsillectomy. Four patients underwent orthognathic surgery to correct midface hypoplasia and malocclusion. Two patients had cranioplasty for correction of metopic depressions. The characteristic findings of patients with CCD involving multiple regions of the body should draw clinicians' attention to the need for multidisciplinary management of these patients.

The impact of fronto-orbital advancement (FOA) on frontal sinus development and function is anecdotally variable. The aim of this study was to assess the impact of FOA on development of frontal sinuses, and additionally to identify the complications that might arise out of such procedures. This was a retrospective case-control study. Non-syndromic and syndromic craniosynostosis patients (n = 58) who underwent FOA at an early age and also had a skull radiograph or CT scan after the age of 12 were selected. Age matched trauma patients with CT scans done beyond 12 years of age were used as controls. Age at first FOA surgery, total number of procedures and age at imaging was noted. Presence or absence of frontal sinuses was assessed using imaging studies initially. Patients with a formed frontal sinus and a CT scan were further chosen for volumetric studies. Complications related to frontal sinus and secondary surgeries were recorded. One of 27 non-syndromic patients had absent frontal sinuses. Seven of 31 syndromic patients had absent sinuses. Among 20 controls, only 1 patient did not develop frontal sinuses. The mean age at first FOA was 11.81 months and 18.25 months for non-syndromic and syndromic groups, respectively. The average number of procedures before 12 years of age was 1.25 and 1.51 for non-syndromic and syndromic patients, respectively. The mean age at imaging was 17.74, 20.96, and 20.25 years for non-syndromic, syndromic and control groups, respectively. The mean frontal sinus volumes were 13050.36, 15039.02, and 8459.48 mm for non-syndromic, syndromic and control groups, respectively. In conclusion, FOA does not seem to have an impact on rate of pneumatization in the background of similar rates in the non-syndromic and control groups. The low pneumatization rate in syndromic group might be a virtue of the disease itself. There were significant frontal sinus complications that occurred after fronto orbital advancement and this should be borne in mind during the surgical consenting process.

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.

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.

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.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.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).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.

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.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.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).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.

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

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.

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.

Facial trauma in women is complex with physical, psychosocial, and cultural influences impacting clinical presentations. Although multifactorial, assaults and falls are principally reported as the main causes.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 in women that attended or were referred to the unit were included in this study. The primary objective was to analyse epidemiological trends of facial fractures and clinical outcomes in the South Australian female population.There is a bimodal distribution of facial fractures at 25-35 years and 65 + years. Indigenous females were 19.5 years younger than non-indigenous females (30.5 vs 49.9, P 0.001). Approximately half the cohort had a fall-related facial fracture, followed by assault (26.2%), and sports (10.3%). There was a higher proportion of non-alcohol-related trauma from assaults than alcohol-related assaults (72.5% vs 27.5%, P 0.001). Over half (58.0%) of the cohort had a midface fracture. The elderly had increased odds of 1.9 fold for facial fractures in winter, largely from falls, compared to younger women. Associated injuries were present in almost half the elderly women with 2.6 times the risk compared to younger women. Younger women had higher incidences of surgical intervention (52.6% vs 14.3%, P 0.05).Young women disproportionately experience larger incidences of non-alcohol-related assaults requiring operative intervention of the mandible, whereas elderly women principally suffer fall-related facial fractures with higher rates of associated injuries.

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.

To investigate the incidence of persistent, open metopic sutures in contemporary Australians aged 24 months and older.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.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.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.

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.1570CT (p.Arg524Trp) variant of TRAF7.

BACKGROUNDSquamosal sutures are minor sutures of the human skull. Early isolated fusion of the sutures (squamosal synostosis) is rarely found.OBSERVATIONSThe authors report a case of a girl who presented with an abnormal head shape and bilateral squamosal synostosis. Genetic testing revealed a chromosome 1p12–1p13.3 deletion. She has been managed with conservative treatment of the synostosis. She has global developmental delay and multiple anomalies due to the chromosome abnormality.LESSONSIsolated squamosal suture synostosis could be an uncommon feature of chromosome 1p12–1p13.3 deletion.