OBJECTIVE: To summarize the application and recent development of orthognathic surgery in treating syndromic craniosynostosis. METHODS: 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. RESULTS: 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. CONCLUSION 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.
Humans ; Orthognathic Surgery ; Craniosynostoses/surgery* ; Osteotomy ; Osteotomy, Sagittal Split Ramus

Image-guided surgery potentially enhances intraoperative safety and outcomes in a variety of craniomaxillofacial procedures. We explore the efficiency of one intraoperative navigation system in a single complex craniofacial case, review the initial and recurring costs, and estimate the added cost (e.g., additional setup time, registration). We discuss the potential challenges and benefits of utilizing image-guided surgery in our specific case and its benefits in terms of educational and teaching purposes and compare this with traditional osteotomies that rely on a surgeon's thorough understanding of anatomy coupled with tactile feedback to blindly guide the osteotome during surgery. A 13-year-old presented with untreated syndromic multi-suture synostosis, brachycephaly, severe exorbitism, and midface hypoplasia. For now, initial costs are high, recurring costs are relatively low, and there are perceived benefits of imaged-guided surgery as an excellent teaching tool for visualizing difficult and often unseen anatomy through computerized software and multi-planar real-time images.
Adolescent ; Craniosynostoses ; Humans ; Osteotomy ; Surgery, Computer-Assisted* ; Synostosis

Craniofacial malformation caused by premature fusion of cranial suture of infants has a serious impact on their growth. The purpose of skull remodeling surgery for infants with craniosynostosis is to expand the skull and allow the brain to grow properly. There are no standardized treatments for skull remodeling surgery at the present, and the postoperative effect can be hardly assessed reasonably. Children with sagittal craniosynostosis were selected as the research objects. By analyzing the morphological characteristics of the patients, the point cloud registration of the skull distortion region with the ideal skull model was performed, and a plan of skull cutting and remodeling surgery was generated. A finite element model of the infant skull was used to predict the growth trend after remodeling surgery. Finally, an experimental study of surgery simulation was carried out with a child with a typical sagittal craniosynostosis. The evaluation results showed that the repositioning and stitching of bone plates effectively improved the morphology of the abnormal parts of the skull and had a normal growth trend. The child's preoperative cephalic index was 65.31%, and became 71.50% after 9 months' growth simulation. The simulation of the skull remodeling provides a reference for surgical plan design. The skull remodeling approach significantly improves postoperative effect, and it could be extended to the generation of cutting and remodeling plans and postoperative evaluations for treatment on other types of craniosynostosis.
Child ; Computer Simulation ; Cranial Sutures/surgery* ; Craniosynostoses/surgery* ; Humans ; Infant ; Skull/surgery*

OBJECTIVETo sum up three types of plastic procedures for frontal plagiocephaly Based on the principle of floating forehead, the plagiocephaly (unilateral coronal synostosis).

METHODSwas corrected and orbito-frontal reconstruction was performed by orbito-frontal advancement, 'or temporoparietal osteotomy, or fronto-parietal osteotomy. The absorbable plates and microscrews composed of From January 2008 to polylactide polymers, were used to immobilize calvarial segments.

RESULTSDecember 2010, 9 cases of plagiocephaly were treated with satisfactory result and no severe complication. The patients were followed up for 1-2 years with no recurrence of suture fusion and deformity. The brain development was not restricted. The absorbable plates were applied to avoid the metal fixation moving into The three types of plastic procedures, orbito-frontal advancement, or the cranial bone.

CONCLUSIONStemporo-parietal osteotomy, or fronto-parietal osteotomy, can correct the plagiocephaly with satisfactory orbito-frontal appearance. Long-term follow-up is needed to observe the long-term effect of the orbito-frontal reconstructive operation on mental and calvarial development as well as visual function.

Absorbable Implants ; Bone Plates ; Craniosynostoses ; surgery ; Forehead ; Humans ; Osteotomy ; methods ; Plagiocephaly ; surgery ; Reconstructive Surgical Procedures ; methods

OBJECTIVETo study the technique of total calvaria reconstruction for sagittal synostosis.

METHODS11 children with sagittal synostosis were treated. The David II procedure was used to reconstruct the calvarial gap in 6 cases; Osteotomies with reversal change was performed on 2 cases; Plum-plasty of the calvaria was performed on 3 cases.

RESULTSThe 11 cases were cured with satisfactory head shape.

CONCLUSIONSThe David II procedure is applicable for patient of 1 approximately 3 months. The technique of floating skull flap plasty and plum-plasty of the calvaria can be performed on patients older than 3 months.

Cranial Sutures ; abnormalities ; Craniosynostoses ; surgery ; Female ; Humans ; Infant ; Male ; Reconstructive Surgical Procedures ; methods

Plagiocephaly is a premature unilateral coronal craniosynostosis consisting of flattening of the involved frontal region and low-set orbit in affected side and compensatory occipital bulging in contralateral side with resultant facial asymmetry. The authors experienced a 20-year-old male having frontal and posterior palgiocephaly with asymmetric mid-facial appearance in left side who had undergone the strip craniectomy of the coronal suture when he was 100 days old. We performed total intracranial total calvarial remodeling including occipital region followed by two-jaw operation seven months later. Cranial vault was cut into three transverse bone flaps; anterior bi-frontal bone flap, posterior bi-fronto-parietal bone flap, and bi-parieto-occipital bone flap. Unilateral supra-orbital bar advancement with tongue-in-groove arrangement was performed. To restore contour of occipital region, the transposition cranioplasty was done after mid-sagittal osteotomy of posterior bone flap. Seven months later, Le Fort I osteotomy and BSSRO was performed to correct jaw asymmetry and cross-bite. We believe that total correction of orbito-fronto-occipital vault including jaw surgery in plagiocephaly is mandatory for more excellent aesthetic result and effectiveness.
Craniosynostoses ; Facial Asymmetry ; Humans ; Jaw ; Male ; Orbit ; Orthognathic Surgery ; Osteotomy ; Plagiocephaly* ; Sutures ; Young Adult

Craniosynostosis occurs in approximately 1:2000 live births. It may affect the coronal, sagittal, metopic and lambdoid sutures in isolation or in combination. Although non-syndromic synostoses are more common, over 150 genetic syndromes have been identified. Recent advances in genetic mapping have linked chromosomal mutations with craniosynostotic syndromes. Despite the identification of these genetic mutations, the fundamental biomolecular mechanisms mediating cranial suture biology remain unknown. Today, many laboratories are investigating murine cranial suture biology as a model for human cranial suture development and fusion. Normal murine cranial suture biology is very complex, but evidence suggests that the dura mater provides the biomolecular blueprints (e.g. the soluble growth factors), which guide the fate of the pleuripotent osteogenic fronts. While our knowledge of these dura-derived signals has increased dramatically in the last decade, we have barely begun to understand the fundamental mechanisms that mediate cranial suture fusion or patency. Interestingly, recent advances in both premature human and programmed murine suture fusion have revealed unexpected results, and have generated more questions than answers.
Animal ; Craniosynostoses/*etiology/genetics/surgery ; Fetal Development ; Fetus/*physiology ; Human ; Mutation

Apert syndrome is well known condition with craniosynostosis, midface hypoplasia, exorbitism, and typical symmetric syndactyly of hands and feet. Surgical correction method should be selected according to the type and the severity of the deformity and the patient's age. We have experienced an adult atypical Apert syndrome patient who has brachycephaly and midface hypoplasia, without exorbitism, and has limb deformities such as brachymetatarsia and ectrodactyly without syndactyly of hands and feet, which are not typical in Apert syndrome patients. For the simultaneous correction of the cranial vault and the facial deformities, we combined Le Fort II advancement osteotomy and advancement genioplasty as well as transposition cranioplasty at the same time, and obtained successful result. Through our limited experience, we concluded our modified combined methods could be safely applied to the adult patients with various types of craniofacial deformity.
Acrocephalosyndactylia* ; Adult ; Congenital Abnormalities ; Craniosynostoses ; Extremities ; Foot ; Genioplasty ; Hand ; Humans ; Osteotomy ; Surgery, Oral* ; Syndactyly

Crouzon syndrome is one of the craniofacial syndromes characterized by craniosynostosis, midfacial hypolpasia and ocular proptosis. Distraction osteogenesis is becoming important technique to treat craniofacial dysplaisa. It has many advantages compared with standard orthognathic surgery. Maxillary distraction osteogenesis after Le Fort III osteotomy with the RED system presents successful maxillary protraction to Crouzon syndrome patient with severe maxillary deficiency. It also allows remarkable improvement of facial esthetics and respiratory functions.
Craniofacial Dysostosis* ; Craniosynostoses ; Esthetics ; Exophthalmos ; Humans ; Orthognathic Surgery ; Osteogenesis, Distraction* ; Osteotomy

OBJECTIVE: To analyze the clinical and genetic characteristics of an infant with craniosynostosis. METHODS: An infant who was admitted to Wuhan Children's Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology in April 2021 due to widening of the lateral ventricles for over a month was selected as the study subject. Clinical data of the patient was collected. Peripheral blood samples were collected from the infant and her parents for chromosomal karyotyping and whole exome sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Relevant literature was retrieved from the PubMed, Wanfang and CNKI databases (up to December 2021) by using key words including ERF gene, craniosynostosis, ERF mutation, craniosynostosis and ERF-related craniosynostosis. RESULTS: The infant, a 1-month-and-16-day-old female, was found to have sagittal synostosis by cranial X-ray radiography. Genetic testing revealed that she has harbored a heterozygous c.787C>T (p.Q263*) variant of the ERF gene, which was not found in either parent. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted as pathogenic (PVS1+PS2+PM2_Supporting). In total 63 relevant cases were retrieved from the database, and a total of 64 individuals were analyzed by genetic testing. Most of the cases were sporadic and males. Multiple cranial sutures (including at least two of the sagittal suture, coronal suture, lambdoid suture, and frontal suture) were involved in 45.45% of the cases, and those with sagittal suture closure only have accounted for 20.00%. The main clinical manifestations have included hypertelorism, exophthalmos, development delay, malar dysplasia, etc. Chiari type 1 malformation may present in some patients. Variants of the ERF gene have mainly included splicing and deletional variants, and there was a strong genetic heterogeneity among the infants and their pedigrees. CONCLUSION The c.787C>T (p.Q263*) variant of the ERF gene probably underlay the craniosynostosis of this infant. Above finding has enriched the phenotype ~ genotype spectrum of the ERF gene.
Female ; Humans ; Cranial Sutures/surgery* ; Craniosynostoses/genetics* ; Genetic Testing ; Mutation ; Repressor Proteins/genetics* ; Infant