Spring-assisted cranioplasty is a minimally invasive, dynamic technique for cranial expansion in craniosynostosis. This report describes its initial application in Thailand for posterior vault expansion in multisuture cases. Two patients were treated: a 14-month-old boy with secondary multisuture synostosis from a ventriculoperitoneal shunt and an 11-month-old girl with Pfeiffer syndrome. Custom springs were fabricated in-house from 316 stainless steel Kirschner wire, with forces ranging from 2.68 to 4.77 N. A 1-cm wide parieto-occipital strip craniectomy was performed, and 4 springs were placed per patient. Substantial cranial expansion was achieved. The boy's cephalic index improved from 1.29 preoperatively to 1.05 at 1 year, and the girl's normalized from 1.07 to 0.91. Operative times were 100 and 190 minutes, with blood losses of 100 mL and 20 mL, respectively. Springs were removed at 7 and 10 months postoperatively without bony encasement. The first case required ventriculoperitoneal shunt revision for hydrocephalus, highlighting a key consideration in secondary synostosis. Both children showed appropriate developmental progress at follow-up. This initial experience suggests that spring-assisted cranioplasty is a feasible, cost-effective option for posterior vault expansion in complex multisuture craniosynostosis. It provides the benefits of an internal device, reduced operative time and blood loss, and effective cranial reshaping. Careful patient selection is essential, especially for shunt-dependent cases. The technique offers a valuable surgical option in resource-limited settings.
Multisutural craniosynostosis, involving premature fusion of cranial sutures, leads to abnormal skull shape and elevated intracranial pressure (ICP), threatening neurodevelopment. This case report describes a 6-day-old infant with multisutural craniosynostosis associated with an ERF gene mutation. Imaging confirmed elevated ICP. At 2 months, posterior cranial and foramen magnum decompression effectively reduced ICP, deferring fronto-orbital advancement. By age 2, the child had achieved normal developmental milestones with stable cranial morphology and no Chiari I malformation. Early posterior decompression is a viable first-line intervention for syndromic craniosynostosis, promoting natural bone reformation and reducing secondary surgeries. Multidisciplinary management is essential.
The authors present a novel single-stage extracranial transnasal approach for repairing frontoethmoidal encephalomeningocele in a 1-year-old girl, eliminating the need for a coronal incision. Through an inverted-Y nasal incision, the procedure encompassed herniated tissue excision, duraplasty, medial orbital osteotomies for medial hypertelorism correction, cranial base reconstruction with hydroxyapatite and poly-L-lactic acid mesh, costochondral graft nasal dorsum reconstruction, and Y-to-V flap closure. Postoperative recovery was uneventful, with follow-up demonstrating improved orbital alignment and favorable aesthetic outcomes. This technique offers a streamlined alternative to traditional coronal-based approaches, particularly suited for resource-limited settings.
Treacher-Collins syndrome is a rare facial clefting disorder, the management of which remains among the most challenging for craniofacial teams. Herein, we report the long-term outcome of early mandibular lengthening by distraction osteogenesis for established airway obstruction in Treacher-Collins syndrome. This case, which was the first literature report in this clinical scenario1, has subsequently been reviewed at skeletal maturity2 and can now be addressed more than 30 years later.
Cranial vault remodeling (CVR) is a common procedure for correcting sagittal craniosynostosis. Some approaches leave significant craniectomy defects. The authors investigated the reosteogenesis in different cranial defect areas after CVR. A cross-sectional study was conducted in nonsyndromic sagittal craniosynostosis. Available early postoperative computed tomography (CT) scans were analyzed. The segmentation of three-dimensional reconstructed images was performed. Different cranial defect areas, including coronal, vertex, and occipital regions, were further investigated using an automated three-dimensional analysis software for reosteogenesis percentage. Forty-four CT scans were included. The average age at CVR was 8.8 months. The median time of postoperative CT scans was 6.1 weeks. The median bone reformation percentage of the entire cranial defect was 56.7%. Given the similar postoperative CT timing, the median bone reformation at the coronal, vertex, and occipital areas demonstrated 44.21%, 41.13%, and 77.75%, respectively ( P < 0.001). In the simultaneously removed coronal and lambdoid sutures, there were 45% with coronal and lambdoid sutures reformation, followed by lambdoid suture reformation alone, no suture reformation and coronal reformation alone in 35%, 20%, and 0%, respectively ( P = 0.013). There was no coronal reformation in the removed coronal suture group. However, 40% demonstrated lambdoid suture reformation after the isolated lambdoid suture removal. The occipital region has the highest reosteogenesis compared with the other cranial defects after CVR in nonsyndromic sagittal craniosynostosis. Within the removed previous patent sutures, the lambdoid suture reformation showed a higher rate than the coronal suture.
This study assesses the utility of artificial intelligence (AI), particularly ChatGPT models (GPT-3.5, GPT-4, and GPT-4o), in responding to inquiries compared with human professionals, focusing on applications in patient education and care standardisation. The authors conducted a comparative analysis of responses from AI and human experts-including a resident, a general plastic surgeon, and craniofacial surgeons-to 36 basic and 14 controversial questions related to cleft lip and palate. Evaluation criteria included response accuracy, readability (applying Flesch Reading Ease and Flesch-Kincaid Reading Grade Level), and the quality of treatment information (using DISCERN and PEMAT-P scores). AI demonstrated moderate accuracy (55.6%) on basic questions, although lower than that of experienced craniofacial surgeons. In controversial topics, AI displayed superior consistency and accuracy compared with residents. GPT-4o excelled in readability and understandability metrics. DISCERN scores indicated higher-quality treatment information from AI than from less experienced human respondents. However, AI struggled with actionable insights and nuanced clinical judgment, underscoring the critical role of experienced surgeons. Although AI, particularly GPT-4o, shows potential in enhancing patient education and fostering standardised communication in cleft care, it remains a supplementary tool that cannot replace the clinical expertise and decision-making capabilities of seasoned professionals. Integrating AI with human expertise could enhance the delivery of comprehensive cleft care.
The musculus uvulae (m. uvulae) is an often overlooked, albeit crucial anatomic structure within the human soft palatal musculature. It is one of 5 paired muscles that contribute to a variety of physiological functions, including speech, deglutination, and prevention of nasal regurgitation. Over the previous 60 years, there has been contention among surgeons and anatomists as to the functional anatomy of the musculus uvulae and its contribution to the competence of the velopharyngeal sphincter, both actively and passively. Furlow's palatoplasty is widely used in repair of both primary and secondary clefts, with generally good outcomes. Although its restoration of certain velar muscles orientation has positive effects on velar function, it inherently disrupts the action of the musculus uvulae, which may account for certain cases of postoperative velopharyngeal insufficiency (VPI). Here, the authors review the anatomy of the musculus uvulae and provide videographic evidence of the detrimental effect of Furlow's palatoplasty upon it.
This study investigates normocephalic craniosynostosis (NC), a condition characterised by the premature fusion of cranial sutures without visible cranial deformities, which may be associated with significant neurodevelopmental risks. A case–control study was conducted involving patients aged 1 to 20 years with incidental diagnoses via CT scans. We collected comprehensive data from electronic medical records, including demographics, CT characteristics, neurological symptoms, and comorbidities. The study included 42 NC cases and 41 controls with patent cranial sutures. The average cephalic index was 81.7
This study examines the management of nasal regurgitation associated with velopharyngeal incompetence (VPI), a condition primarily recognized for its effects on speech. While significant surgical interventions are available for speech-related symptoms, nasal regurgitation often goes unnoticed. We assessed the effectiveness of posterior pharyngeal wall augmentation (PPWA) using costal cartilage as a treatment for patients experiencing nasal regurgitation due to VPI. A retrospective review was conducted at Cleft and Craniofacial South Australia over the past 5 years. Patients underwent simultaneous nasendoscopy and lateral videofluoroscopy evaluations. Our focus was on those suffering from nasal regurgitation who received PPWA. Among the 20 patients treated with PPWA, 8 specifically indicated nasal regurgitation. Five had regurgitation as their only symptom, while 3 had additional speech-related concerns. All patients noted a significant improvement in regurgitation symptoms postoperatively, along with an elevation of the posterior pharyngeal wall. Notably, no complications, such as graft exposure, were observed. The results indicate that PPWA is another effective surgical intervention for managing nasal regurgitation in VPI patients. This study promotes a multidisciplinary approach that combines treatment for both speech and nasal regurgitation, ultimately enhancing patient quality of life.
We present the case of a 2-year-old Thai boy with VACTERL association who was also diagnosed with left unilateral lambdoid craniosynostosis, a rare and atypical finding in this syndrome. The patient exhibited multiple congenital anomalies, including butterfly vertebrae, imperforate anus, and a patent ductus arteriosus. At 12 months of age, he was referred to the Craniofacial team due to posterior plagiocephaly and facial asymmetry. Imaging confirmed left lambdoid synostosis with effacement of the subarachnoid space, prompting surgical intervention. At 15 months, he underwent posterior cranial vault remodeling, which successfully improved cranial morphology and intracranial volume. Postoperatively, the patient demonstrated age-appropriate developmental milestones and significant improvement in head shape, though mild facial asymmetry persisted. This case highlights the rare coexistence of lambdoid craniosynostosis with VACTERL association, emphasizing the importance of early diagnosis, timely surgical intervention, and a multidisciplinary approach in managing complex congenital anomalies. While craniosynostosis is not classically associated with VACTERL, this report suggests a potential overlap that warrants further genetic and molecular investigation. Early recognition and treatment of craniofacial abnormalities in patients with VACTERL is crucial in optimizing functional and aesthetic outcomes.
In this report, the authors examine the case of a 28-year-old woman with an unrepaired isolated cleft palate, detailing her clinical evaluation and subsequent surgical management. Comprehensive evaluations included perceptual speech assessments, along with simultaneous nasendoscopy and lateral videofluoroscopy, allowing for a detailed analysis of the musculus uvulae and compensatory pharyngeal changes. The authors' findings revealed the unopposed action of the musculus uvulae, which, along with tongue positioning and a prominent Passavant's ridge, contributed to a compensatory adaptation in the velopharyngeal area. Subsequent surgical interventions improved speech outcomes, demonstrating the value of a multidisciplinary approach in managing complex cases of unrepaired cleft palate.
Facial feminization surgery (FFS) reshapes masculine facial attributes to align with feminine norms, yet normative anthropometric data for Asian populations remain sparse. We therefore quantified sex-related 3-dimensional (3D) facial metrics in healthy Asian adults to delineate dimorphic benchmarks for surgical planning. We prospectively recruited 40 healthy Asian adults (20 males, 20 females; age 18 to 45 years, mean 28.6 years; body mass index 21.8 kg/m 2 ) and obtained 3D images with the Vectra XT 3D system. Linear and angular metrics for the upper, middle, and lower facial thirds were compared between sexes with independent-samples t tests (α = 0.05). Male faces showed greater vertical dimension (196.7 mm versus 190.3 mm, P = 0.023), broader zygomatic (127.9 mm versus 120.7 mm, P < 0.001), and mandibular widths (124.4 mm versus 113.8 mm, P < 0.001). They also had longer noses (43.7 mm versus 37.9 mm, P < 0.001) with increased tip projection (23.9 mm versus 19.8 mm, P < 0.001) and more acute glabellar (146.8° versus 150.9°, P = 0.025) and nasofrontal (137.1° versus 142.6°, P = 0.011) angles. Female faces displayed increased forehead convexity (ratio 1.030 versus 1.011, P < 0.001), steeper palpebral slant (9.4° versus 6.2°, P < 0.001), and wider columella-labial angle (109.6° versus 104.6°, P = 0.032). They also exhibited a more obtuse gonial angle (135.4° versus 129.6°, P = 0.002) and shorter upper lip (23.9 mm vs. 26.0 mm, P = 0.007). Age and body mass index did not differ between sexes. These quantitative benchmarks delineate sexual dimorphism in Asian visages and furnish evidence-based targets for FFS planning. Effective FFS should reduce bony and soft-tissue prominence, create obtuse angles, and incorporate targeted lifting to reproduce the feminine template, thereby enhancing gender-affirming outcomes.
BackgroundSubmucous cleft palate (SMCP) is a rare condition with a variable symptomatology. While in overt cleft palate, earlier repair is associated with superior speech outcomes, this is not always possible as many patients with SMCP present at an older age. There is controversy in how patients with SMCP who present at a young age should be treated because it is difficult to differentiate which patients will be symptomatic and which will be asymptomatic later in life. Because of this, we anticipate that even within a small population geographical region such as Australia and New Zealand, that there may be variation in SMCP is managed. We surveyed surgeons and speech pathologists in Australia and New Zealand to determine how SMCP is managed by different providers.MethodA web-based, 9 question survey was developed and sent to 52 cleft surgeons and 39 cleft speech pathologists in Australia and New Zealand, with questions about practice duration and location, preferred operative techniques, follow up duration and follow up type, and three clinical scenarios involving patients with SMCP.ResultsEighteen of 52 (35%) surgeons and 21 of 39 (54%) speech pathologists responded. There were differences in preferred surgical technique, follow-up duration, and indications for surgical intervention. There was disagreement in how to manage prelingual patients with SMCP, with 39% of surgeons repairing these patients early to prevent the development of cleft speech patterns, 22% of surgeons opting for early repair if there were other symptoms such as nasal regurgitation or otitis media with effusion, and 39% electing to wait for speech development. By contrast, only 10% of speech pathologists recommended early surgery, 40% recommended early surgery in the presence of other symptoms, and 50% recommended observation until speech development.ConclusionThere is a wide variation in the preferred management of SMCP in Australia and New Zealand. This may reflect the wide range in symptomology of this patient population, or the clinical equipoise between various management strategies based on the current body of evidence.
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.
Apert syndrome is characterized by craniosynostosis, a hypoplastic mid-face, skeletal abnormalities, symmetric syndactyly of the hands and feet, and a degree of neurocognitive impairment. Long-term outcomes of patients who have undergone surgical correction of Apert syndrome are limited. The authors present the case of a 73-year-old female with Apert syndrome, with follow-up of more than 3 decades following a fronto-orbital advancement and Le Fort III advancement. Clinical and radiologic images demonstrate a degree of skeletal resorption and relapse that is likely unavoidable. This provides insight into the long-term skeletal stability and esthetic outcomes for patients with Apert syndrome.
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.
It has been our observation that unicoronal synostosis and deformational plagiocephaly (DP) are not mutually exclusive. The incidence and phenotypical manifestations of a patient presenting with both conditions have not been studied previously. The authors performed a retrospective review of patients presenting with unicoronal synostosis, examining their 3DCT scans for the presence of DP and assessing their endocranial and orbital morphology. The authors found that 38.4% of patients with unicoronal synostosis also have DP. Ipsilateral DP is less common than contralateral DP, but these patients tend to have a delayed presentation due to a reduction in forehead asymmetry corresponding to the parallelogram deformity. Regardless, DP has no impact on the endocranial nor orbital morphology in unicoronal synostosis.
VACTERL association is diagnosed based on the non-random co-occurrence of at least 3 out of 6 congenital malformations. The prevalence is thought to be less than 1 in 10,000 to 1 in 40,000. There is no known link between VACTERL association and metopic synostosis in the literature. There were 122 operated cases of metopic synostosis at our institution from 1999 to 2023, with a 2.3:1 male-to-female ratio. The authors describe the co-occurrence of VACTERL association and metopic synostosis in 3 female patients with no identifiable genetic variants. Given that VACTERL association is a diagnosis of exclusion, other rare syndromes were considered but ultimately excluded. This suggests that the co-occurrence of VACTERL association and metopic synostosis is a potentially rare finding, and underlying pathogenic variants are yet to be identified.
Velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome or DiGeorge syndrome, is a complex genetic disorder associated with a spectrum of phenotypic features, including craniofacial anomalies, congenital heart defects, and neurodevelopmental challenges. Among the more concerning, though under-recognized, presentation in VCFS is carotid artery medialization—a finding that places patients at substantial risk for vascular injury during pharyngeal surgeries. This report presents a case of VCFS in which carotid artery medialization was dramatically demonstrated during nasoendoscopic evaluation for velopharyngeal incompetence. The findings underscore the importance of comprehensive preoperative imaging in patients with VCFS to minimize surgical risk and optimize outcomes.