Craniosynostosis constitutes one of the most common congenital cranial malformations, affecting approximately 6/10,0000 live births. A genetic etiology has long been known for several forms of syndromic craniosynostosis, including pathogenic variants in TWIST1 and FGFR3 in children with Saethre-Chotzen and Muenke syndrome. Over the last decade, reports of genetic aberrations in TCF12 in children with craniosynostosis have emerged, in particular in cases with premature closure of the coronal suture(s). In this study, we, therefore, systematically reviewed the rapidly growing knowledge of TCF12-related coronal craniosynostosis, clearly illustrating its high degree of genotype and phenotype variability. With the two novel cases presented, at least 113 cases of TCF12-related coronal craniosynostosis have currently been reported. By pooling data from several prospectively collected undifferentiated craniosynostosis cohorts (ntotal = 770), we estimate a prevalence of pathogenic TCF12 variants of at least 2%. Overall, pathogenic germline variants in TCF12 are relatively frequent in children with coronal craniosynostosis, accounting for ∼10-20% of TWIST1- and FGFR1/2/3-negative cases, with even higher rates for bicoronal and syndromic cases. Genetic counseling is recommended for all children with craniosynostosis, and involvement of the coronal suture(s) should precipitate TCF12 testing.

OBJECTIVE: Posterior vault distraction osteogenesis (PVDO) has been utilized during the past 15 years to treat a variety of clinical features commonly presented by patients with Apert syndrome. The objective of this study is to determine the efficacy of PVDO in addressing both elevated intracranial pressure (ICP) and ectopia of the cerebellar tonsils (ECT) in young Apert patients. In addition, we aimed to determine the prevalence of hydrocephalus in Apert syndrome patients who underwent PVDO.
METHODS: A retrospective study was made with a cohort of 40 consecutive patients with syndromic craniosynostosis (SC), previously diagnosed with Apert syndrome, who underwent PVDO between 2012 and 2022, and thereafter received at least 1 year of follow-up care. Demographic data and diagnosis, along with surgical and outcome data, were verified using medical records, clinical photographs, radiologic examination, and interviews with the parents of all cohort patients.
RESULTS: The average patient age when PVDO was performed was 12.91 ± 10 months. The average posterior advancement distance achieved per patient was 22.68 ± 5.26 mm. The average hospital stay per patient was 3.56 ± 2.44 days. The average absolute and relative blood transfusion volumes were 98.47 ml and 17.63 ml/kg, respectively. Although five patients (14%) presented ECT preoperatively, this condition was completely resolved by PVDO in three of these five patients. One of the three patients whose ECT had completely resolved presented syringomyelia postoperatively, requiring subsequent extra dural foramen magnum decompression. All of the remaining four patients were asymptomatic for ECT for at least 1 year of follow-up, and none of these four patients required any additional treatments to address ECT. Two patients presented hydrocephalus requiring ventriculoperitoneal shunt placement.
CONCLUSIONS: This study demonstrates that PVDO both reduces diagnosed elevated ICP symptoms and is partially effective in treating ECT in Apert syndrome patients. Hydrocephalus in Apert syndrome is an uncommon feature. The effectiveness of PVDO in addressing hydrocephalus is uncertain.

OBJECTIVE: Obstructive sleep apnea (OSA) is common in children with syndromic craniosynostosis (SC). The efficacy of the Le Fort III procedure in managing OSA in children with SC remains a subject of ongoing debate. This study aimed to explore the efficacy of Le Fort III procedure in the management of OSA in children with SC.
METHODS: A retrospective study was performed in children with SC and OSA diagnosed by polysomnography, which was defined as an apnea-hypopnea index ≥ 1 event/h. Patients meeting the inclusion criteria were those who underwent Le Fort III surgery and had both baseline polysomnography and follow-up sleep studies. Relevant clinical and demographic data were collected from all individuals who participated in the study.
RESULTS: Overall, 45 children with OSA and SC were identified, with a mean age of 6.8 ± 4.7 years. Twenty-five received the Le Fort III procedure and follow-up sleep studies. The Le Fort III procedure resulted in a significant reduction in apnea-hypopnea index (6.0 [2.6, 10.1] vs 37.6 [20.9, 48.0] events/h; P < .001). However, normalization of OSA was only achieved in 1 patient (4%).
CONCLUSIONS: The Le Fort III procedure is efficacious in the treatment of OSA in children with SC. However, despite the observed improvement, residual OSA following treatment remains common.
BACKGROUND: Chang Y, Zhang W, Li M, et al. The effect of Le Fort III procedure in the treatment of obstructive sleep apnea in children with syndromic craniosynostosis. J Clin Sleep Med. 2024;20(8):1301-1311.

OBJECTIVE: We examined the association between pulse transit time (PTT) and obstructive sleep apnea (OSA) in children with syndromic craniosynostosis (SCS), where OSA is a common problem and may cause cardiorespiratory disturbance.
METHODS: A retrospective study of children (age < 18 years) with SCS and moderate-to-severe OSA (ie, obstructive apnea-hypopnea index ≥ 5) or no OSA (obstructive apnea-hypopnea index < 1) who underwent overnight polysomnography. Children without SCS and normal polysomnography were included as controls. Reference intervals for PTT were computed by nonparametric bootstrap analysis. Based on reference intervals of controls, the sensitivity and specificity of PTT to detect OSA were determined. In a linear mixed model, the explanatory variables assessed were sex, age, sleep stage, and time after obstructive events.
RESULTS: In all 68 included children (19 with SCS with OSA, 30 with SCS without OSA, 19 controls), obstructive events occurred throughout all sleep stages, most prominently during rapid eye movement (REM) sleep and non-REM sleep stages N1 and N2, with evident PTT changes. The greatest reductions were observed 4-8 seconds after an event (P < .05). In SCS with OSA, PTT reference intervals were lower during all sleep stages compared with SCS without OSA. The highest sensitivity was observed during N1 (55.5%), and the highest specificity during REM sleep (76.5%). The lowest PTT values were identified during N1.
CONCLUSIONS: Obstructive events occur throughout all sleep stages with transient reductions in PTT. However, PTT as a variable for OSA detection is limited by its sensitivity and specificity.
BACKGROUND: Yang S, van Twist E, van Heesch GGM, et al. Severe obstructive sleep apnea in children with syndromic craniosynostosis: analysis of pulse transit time. J Clin Sleep Med. 2024;20(8):1233-1240.

The purpose of this study was to evaluate changes in mandibular position during midface distraction. Midface distraction was performed in patients with syndromic craniosynostosis to increase upper airway volume. Although this treatment resulted in changes in occlusion, the concomitant changes in mandibular position were poorly understood. In this retrospective study, three-dimensional (3D) cephalograms were obtained before and after midface distraction in 15 patients with syndromic craniosynostosis. Perioperative polysomnography scores and changes in maxillary and mandibular position, mandibular volume, and upper airway volume were analyzed. Results showed a significant improvement in apnea-hypopnea index (AHI) (from 20.6 ± 21.3 to 6.9 ± 5.1, p < 0.05) and upper airway volume (from 2951.65 ± 2286.38 to 5218.04 ± 3150.05 mm3, p < 0.001). When the lowest point of the sella turcica was set as the reference point, the mandible moved significantly in an anterior direction (from 47.9 ± 11.5 to 51.9 ± 9.8 mm, p < 0.05). Mandibular volume did not change significantly perioperatively (from 32530.19 ± 10726.01 to 35590.50 ± 14879.21 mm3, p = 0.10). There were positive correlations between the rates of improvement in AHI and the amount of mandibular movement in the anterior and inferior directions (both p < 0.05). Within the limitations of the study, it seems that the mandible moved in the anterior-inferior direction after midface distraction, and the amount of movement correlated with improvement in respiratory function. Therefore, it is important to consider the position of the mandible when determining the direction of midface distraction, as it may influence the therapeutic effect.

BACKGROUND: Obstructive sleep apnea (OSA) is common in children with syndromic craniosynostosis (SC). However, objective data on the treatment of OSA in children with SC remain inadequate. This study aimed to explore the efficacy of continuous positive airway pressure (CPAP) in the management of OSA in children with SC.
METHODS: A retrospective study was performed in children with SC and OSA diagnosed by polysomnography (PSG), which was defined as an apnea hypopnea index (AHI) ≥ 1. Patients were included if they were treated with CPAP and had baseline PSG and follow-up sleep studies. Clinical and demographic data were collected from all enrolled subjects.
RESULTS: A total of 45 children with SC and OSA were identified, with an average age of 6.8 ± 4.7 years. Among them, 36 cases had moderate to severe OSA (22 with severe OSA) and received CPAP therapy followed by post-treatment sleep studies. Notably, there was a significant reduction in the AHI observed after CPAP treatment (3.0 [IQR: 1.7, 4.6] versus 38.6 [IQR: 18.2, 53.3] events/h; P < 0.001).
CONCLUSIONS: CPAP is effective and acceptable in treating severe OSA in children with SC.

UNASSIGNED: Retrospective observational study.
UNASSIGNED: The purpose of this publication is to address the absence of literature detailing respiratory management in patients with syndromic craniosynostosis and obstructive sleep apnea during the immediate postoperative interval following LeFort III advancement with placement of distraction hardware but prior to sufficient midface advancement.
UNASSIGNED: After IRB approval, the investigators retrospectively selected candidates for inclusion in this case series. The sample was composed of four patients ranging from 10 to 19 years of age undergoing LeFort III midface advancement during a one-year span at a single tertiary care center. All operations were performed by a single surgeon. Three of the selected patients suffered significant obstructive sleep apnea necessitating the operation, as determined by polysomnography. One patient experienced persistent apnea postoperatively requiring prolonged ICU level care.
UNASSIGNED: Three of the four patients had severe OSA diagnosed by polysomnography with a median AHI of 28.3. Two of the three patients with preoperative OSA experienced no untoward respiratory compromise in the immediate postoperative period; one required nightly oxygen tent and the other required no supplemental oxygen. Patient 1 experienced significant postoperative respiratory distress with nightly apneic episodes and desaturations requiring supplemental oxygen and frequent stimulation.
UNASSIGNED: The present study suggests that early involvement of sleep medicine and management of patient expectations is vital. Extremely close postoperative monitoring in the ICU is necessary. Future studies are needed to protocolize perioperative management of obstructive sleep apnea in patients undergoing LeFort III osteotomy prior to initiation and completion of midface advancement.

This article reviews the most common craniofacial syndromes encountered in clinical practice. Key physical features of each condition are highlighted to aid in accurate recognition and diagnosis. Optimal individualized treatment approaches are discussed.

Distraction osteogenesis is utilized to increase intracranial volume in the treatment of restrictive pathologies, most commonly syndromic synostosis. Children too young for open calvarial vault expansion or other systemic or local contraindications to a direct reconstructive approach benefit greatly from distraction osteogenesis, typically addressing posterior vault expansion. Wound infection, cerebrospinal fluid (CSF) leak, device failure, need for a second surgery for removal, and cost, are issues that can limit the use of this approach. These challenges are more pronounced in low- and middle-income countries (LMICs) due to lack of access to the device, the financial burden of the need for a second surgery, and the severity of the implications of infection and CSF leak. Over the last five decades, there has been an increased acceptance of bioresorbable instrumentation in craniofacial surgery. Poly L-lactic acid, polyglycolic acid, and polydioxanone are the most commonly used polymers. New resorbable fixation tools such as ultrasound-activated pins and heat-activated pins are superior to conventional bioresorbable screws in allowing attachment to thinner bone plates. In this paper, we present a review of the literature on cranial vault distraction and the use of bioresorbable materials and propose a novel design of a fully absorbable cranial distractor system using external magnetic distraction control, eliminating the need for external activation ports and a second surgery to remove the hardware. The application of this technology in LMIC settings could advance access to care and treatment options for patients with syndromic synostosis.

UNASSIGNED: To summarize the application and recent development of orthognathic surgery in treating syndromic craniosynostosis.
UNASSIGNED: The related literature at home and abroad in recent years was extensively reviewed, and the indications, routine procedures, and protocols of orthognathic surgery in the treatment of syndromic craniosynostosis were summarized and analyzed.
UNASSIGNED: Craniosynostosis is a common congenital craniofacial malformation. Syndromic craniosynostosis usually involves premature fusion of multiple cranial sutures and is associated with other deformities. Orthognathic surgery is the necessary and effective means to improve the midfacial hypoplasia and malocclusion. Le Fort I osteotomy combined with sagittal split ramus osteotomy are the common surgical options. Orthognathic surgery should combine with craniofacial surgery and neurosurgery, and a comprehensive long-term evaluation should be conducted to determine the best treatment plan.
UNASSIGNED: Orthognathic surgery plays an important role in the comprehensive diagnosis and treatment of syndromic craniosynostosis. The development of digital technology will further promote the application and development of orthognathic surgery in the treatment of syndromic craniosynostosis.
UNASSIGNED: 对正颌手术在综合征型颅缝早闭症治疗中的应用进展作一综述。.
UNASSIGNED: 广泛查阅国内外相关文献，就正颌手术在综合征型颅缝早闭治疗中的必要性、常用术式及注意事项等进行总结分析。.
UNASSIGNED: 颅缝早闭是常见的先天性颅颌面畸形，综合征型颅缝早闭症通常累及多个骨缝且合并其他相关异常。此类患者常伴有面中部发育不足和咬合关系错乱，正颌手术是矫治错 畸形并改善面部形态的必要且有效手段，Le Fort Ⅰ截骨术联合下颌升支矢状劈开截骨术是常用术式。正颌手术应与颅面外科、神经外科等多学科结合，并进行全面长期评估以制定最佳治疗方案。.
UNASSIGNED: 正颌手术在综合征型颅缝早闭患者的综合诊治中至关重要，数字化技术的发展有望进一步推动正颌手术在综合征型颅缝早闭症治疗中的应用与发展。.