Muenke syndrome is an autosomal dominant genetic disorder that is typically characterized by unilateral or bilateral coronal synostosis, macrocephaly, midface hypoplasia, and developmental delays. This article reports a case of Muenke syndrome with a soft cleft palate. A heterozygous missense mutation c.749C>G (p.P250A) was identified in the FGFR3 gene through genetic testing. The patient exhibited typical features including coronal synostosis, bilateral hearing loss, right accessory auricle, and developmental delays and underwent surgery to repair the soft cleft palate. Cases of Muenke syndrome with cleft palate in the literature are relatively rare, and common associated symptoms include coronal suture craniosynostosis and hearing impairment. This article reports a differential diagnosis with other craniosynostosis syndromes and provides a reference for clinical diagnosis and treatment.
Humans ; Cleft Palate/surgery* ; Craniosynostoses/diagnosis* ; Mutation, Missense ; Palate, Soft/abnormalities* ; Receptor, Fibroblast Growth Factor, Type 3/genetics*

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

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

Objective: To summarize the preliminary efficacy, perioperative management and complications of Le Fort Ⅲ osteotomy and midface distraction in patients with syndromic craniosynostosis by retrospective analysis, and to provide clinical experience for reference. Methods: From October 2017 to January 2020, 20 patients with syndromic craniosynostosis underwent Le Fort Ⅲ osteotomy and distraction in The Department of Oral and Maxillofacial Surgery of Peking University International Hospital, including 11 males and 9 females, were involved. The median age was 7 years (1.5 to 15 years). Preoperative risk prevention plan was put forward by multidisciplinary evaluation, and preoperative intervention was carried out. The diagnostic data of SNA, airway volume, polysomnography (PSG), ophthalmology and occlusal relationship were obtained through specialized examination, and osteotomy and distraction surgical plan was formulated through virtual surgical planning. CT was taken 1 week and 3, 6, 12 months after operation, PSG and eye protrudence examination were conducted to evaluate the therapeutic effect, syndrome type, multiple disciplinary treatment (MDT) intervention, occurrence and outcome of complications were summarized. Results: There were 15 cases of Crouzon syndrome and 5 cases of Pfeiffer syndrome. Sleep apnea was the first complaint in 18 cases and exophthalmia in 2 cases. Preoperative interventional therapy included 4 cases of adenoid surgery, 2 cases of continuous positive airway pressure and 2 cases of maxillary expansion. The most common surgical complications were accidental fracture (14/20 cases, 70%), cerebrospinal fluid fistula (2 cases), internal carotid cavernous sinus fistula (1 case), postoperative hyponatraemia (5 cases), crying syndrome (2 cases), wound infection (2 cases), trichiasis of lower eyelid (4 cases), and nasal malformation (1 case). Three cases underwent unplanned secondary surgery. SNA, airway volume and mean percutaneous arterial oxygen saturation (SpO₂) six months after operation were significantly higher than those before operation (F=10.09, P=0.001; F=5.13, P<0.001; F=10.78, P=0.001), and the protrusion and apnea hypopnea index were significantly lower than those before surgery (F=6.73, P=0.010; F=18.47, P<0.001). There were no significant differences in SNA, airway volume, mean SpO₂, ophthalmology between 6 months after surgery and 1 year after surgery (P>0.05). Conclusions: Perioperative safety assessment and early intervention of MDT is an effective diagnosis and treatment model of Le Fort Ⅲ osteotomy and distraction for syndromic craniosynosis. The operative complications are mainly local, and systemic complications are controllable.
Cephalometry ; Child ; Craniosynostoses/surgery* ; Female ; Humans ; Male ; Osteogenesis, Distraction ; Osteotomy, Le Fort ; Retrospective Studies ; Syndrome

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*

OBJECTIVEThis study aimed to evaluate the effort of applying frontal and occipital bones in extensive cranioplasty and preserving multiple cranial bone flaps adhered to the dura mater in the treatment of sagittal synostosis.

METHODSFrom April 2008 to June 2013, sixty-three children with sagittal synostosis, aged 5 months to 3 years, were included in the study. The frontal bone flap was removed using an air drill. The occipital and bilateral temporal bone flaps were cut open but not detached from the dura mater or fixed to produce floating bone flaps. The skull bone was cut into palisade-like structures. Brain compression from both sides and the base of the skull was released and the brain expanded bilaterally through the enlarged space. Only a long strip-shaped bone bridge remained in the central parietal bone. Subsequently, the frontal bone flaps and occipital bone flap were pushed towards the midline and fixed with the parietal bone bridge to shorten the anteroposterior diameter of the cranial cavity and allow the brain to expand bilaterally to correct scaphocephaly. The CT images showed that both sides of the parietal bone of artificial sagittal groove gradually merged postoperative 1 year, and skull almost completely normal healing after operation 2 or 3 years, without deformity recurrence within 5 years. Among them all, 61 children's intelligence is normal and 2 children's lagged behind normal level, no further improvement.

RESULTSPatients were followed up 1 - 5 years (an average of 43 months). Skull growth was excellent in all patients, the anteroposterior diameter was shortened by 14.6 mm averagely, the transverse diameter was increased by 12.3 mm averagely, the prominent forehead was corrected, and scaphocephaly improved significantly. There were no complications such as death and skull necrosis.

CONCLUSIONSThe application of frontal and occipital bones in extensive cranioplasty and preserving multiple cranial bone flaps adhered to the dura mater can be used in the treatment of sagittal synostosis. Surgery without removing bone flaps is less traumatic and results in no massive bleeding. It can effectively relieve brain compression and promotes transversal expansion of the brain during surgery and subsequent normal brain development.

Bone and Bones ; Brain ; growth & development ; Child, Preschool ; Craniosynostoses ; surgery ; Dura Mater ; Frontal Bone ; surgery ; Humans ; Infant ; Parietal Bone ; surgery ; Recurrence ; Surgical Flaps ; Temporal Bone ; surgery

OBJECTIVETo investigate the diagnosis and treatment of hypotelorism.

METHODSFrom Jan. 2000 to Jan. 2014, 6 cases with hypotelorism were retrospectively studied. Among them, 3 cases had craniosynostosis, 2 had holoprosencephaly, and 1 had cleft lip. All the cases were diagnosed and treated by bone graft or spring distraction to correct the hypotelorism.

RESULTS2 cases were treated by none graft and 4 cases were treated by external spring distraction. All the patients completed the treatment successfully with obvious improvement in appearance. No complication happened. 4 cases were followed up for 2 years with an average fronto-orbital axis angle as (50 ± 8) °.

CONCLUSIONSHypotelorism can be successfully corrected by bone graft as fronto-orbital bridge or spring distraction.

Bone Transplantation ; Cleft Lip ; Craniofacial Dysostosis ; diagnosis ; surgery ; Craniosynostoses ; complications ; Humans ; Osteogenesis, Distraction ; Retrospective Studies ; Treatment Outcome

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

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

The five major areas of concern in craniofacial surgery are the cleft lip and palate, hemifacial microsomia, craniosynostosis and its accompanying craniofacial syndromes, maxillofacial surgery, and breakthrough research on the each of these. Furlow's double opposing Z-plasty and 2-flap palatoplasty are often used to correct the cleft palate. Hereafter, the most appropriate surgical timing and methods must be determined through a prospective randomized control study. Currently, Millard's rotation advancement flap technique is generally used to correct the cleft lip. The repair of a cleft lip and especially a bilateral cleft lip is supplemented by presurgical orthodontics. Effort toward mastering the simultaneous repair of the nose continues. For hemifacial microsomia, distraction osteogenesis, orthognathic surgery, and fat injection is employed to correct facial asymmetry. Tissue engineering will soon be introduced as a treatment option. Currently, craniosynostosis is treated with methods such as total calvarial vault remodeling, endoscopic suturectomy, and distraction osteogenesis. In the future, a simpler and less invasive surgical technique must be developed. Maxillofacial (orthognathic) surgery generally refers to the bilateral sagittal split ramus osteotomy and LeFort I osteotomy. In the future, minimally invasive surgical techniques using endoscopes or robots will be introduced. Through the development of recombinant DNA technology, genetic research of craniofacial anomalies has identified many relevant genes. In the future, gene therapy will be plausible. Through advancements in tissue engineering, regeneration of tissue to correct congenital craniofacial deformities through autologous stem cells and scaffolds will be conceivable in the near future.
Cleft Lip ; Cleft Palate ; Congenital Abnormalities ; Craniosynostoses ; DNA, Recombinant ; Endoscopes ; Facial Asymmetry ; Genetic Research ; Genetic Therapy ; Korea ; Nose ; Orthodontics ; Orthognathic Surgery ; Osteogenesis, Distraction ; Osteotomy ; Osteotomy, Sagittal Split Ramus ; Palate ; Prospective Studies ; Regeneration ; Stem Cells ; Surgery, Oral ; Tissue Engineering