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The Journal of Craniofacial Surgery Mar 2016Isolated sagittal synostosis is the commonest form of craniosynostosis. The reasons for surgery are to normalize the head shape and to increase the cranial volume, thus... (Review)
Review
AIM
Isolated sagittal synostosis is the commonest form of craniosynostosis. The reasons for surgery are to normalize the head shape and to increase the cranial volume, thus reducing the risk of raised intracranial pressure and allowing for normal brain development. It has been suggested that sagittal synostosis may impair neuropsychological development. This systematic review appraised the literature on the management of sagittal synostosis.
METHODS
A literature search was performed with the assistance of a professional librarian. Studies selected had to satisfy the criteria set by PICO (patients, intervention, comparison, and outcome). Cranial index and neuropsychological outcome were used as outcome measures. MINORS was used to assess the methodological quality of the selected articles. A score of 75% was deemed to be of satisfactory quality, and the quality of the evidence from the selected studies was graded using the GRADE system.
RESULTS
One hundred forty-eight articles were initially identified. Only 6 articles fulfilled the PICO criteria and scored a minimum of 75% on MINORS. Four studies compared 1 technique to another with documented cranial indices. Two studies compared 1 group to another and assessed the neuropsychological development. According to GRADE, the quality of evidence was deemed to be very low.
CONCLUSIONS
This systematic review assessed cranial index and neuropsychological outcome following surgery for isolated, nonsyndromic sagittal synostosis. The quality of the evidence in the published literature was noted to be of very low quality. There is a need for better-designed, prospective studies to guide surgeons involved in management of sagittal synostosis.
Topics: Cognition Disorders; Craniosynostoses; Decompressive Craniectomy; Follow-Up Studies; Humans; Infant; Intracranial Hypertension; Postoperative Complications; Prospective Studies; Plastic Surgery Procedures; Treatment Outcome
PubMed: 26825739
DOI: 10.1097/SCS.0000000000002363 -
Scientific Reports Apr 2022This meta-analysis aims to compare Apert syndrome (AS) patients with non-AS populations (not clinically or genetically diagnosed) on craniofacial cephalometric... (Meta-Analysis)
Meta-Analysis
This meta-analysis aims to compare Apert syndrome (AS) patients with non-AS populations (not clinically or genetically diagnosed) on craniofacial cephalometric characteristics (CCC) to combine publicly available scientific information while also improving the validity of primary study findings. A comprehensive search was performed in the following databases: PubMed, Google Scholar, Scopus, Medline, and Web of Science, an article published between 1st January 2000 to October 17th, 2021. PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines were followed to carry out this systematic review. We used the PECO system to classify people with AS based on whether or not they had distinctive CCC compared to the non-AS population. Following are some examples of how PECO has been used: People with AS are labeled P; clinical or genetic diagnosis of AS is labeled E; individuals without AS are labeled C; CCC of AS are labeled O. Using the Newcastle-Ottawa Quality-Assessment-Scale, independent reviewers assessed the articles' methodological quality and extracted data. 13 studies were included in the systematic review. 8 out of 13 studies were score 7-8 in NOS scale, which indicated that most of the studies were medium to high qualities. Six case-control studies were analyzed for meta-analysis. Due to the wide range of variability in CCC, we were only able to include data from at least three previous studies. There was a statistically significant difference in N-S-PP (I: 76.56%; P = 0.014; CI 1.27 to - 0.28) and Greater wing angle (I: 79.07%; P = 0.008; CI 3.07-1.17) between AS and control subjects. Cleft palate, anterior open bite, crowding in the upper jaw, and hypodontia occurred more frequently among AS patients. Significant shortening of the mandibular width, height and length is the most reported feature in AS patients. CT scans can help patients with AS decide whether to pursue orthodontic treatment alone or to have their mouth surgically expanded. The role of well-informed orthodontic and maxillofacial practitioners is critical in preventing and rehabilitating oral health issues.
Topics: Acrocephalosyndactylia; Cephalometry; Cleft Palate; Humans; Research Report
PubMed: 35383244
DOI: 10.1038/s41598-022-09764-y -
Developmental Neuropsychology Jul 2023There is conflicting evidence whether single-suture craniosynostosis (SSC), is linked to adversities of cognitive development. To assess the evidence for a link between... (Review)
Review
There is conflicting evidence whether single-suture craniosynostosis (SSC), is linked to adversities of cognitive development. To assess the evidence for a link between SSC and cognition, a systematic literature search was conducted and eligible studies assessed for inclusion by two independent readers. Forty-eight studies met inclusion criteria. Small to medium but persistent effects on both general and some specific cognitive functions across age bands were found in higher quality studies for SSC overall. There was limited evidence for effects related to surgical correction. Methodologies varied substantially and there was a lack of longitudinal studies using broad assessment batteries.
Topics: Humans; Craniosynostoses; Cognition; Longitudinal Studies; Sutures
PubMed: 37341559
DOI: 10.1080/87565641.2023.2225662 -
The Journal of Craniofacial Surgery Jan 2018Minimally invasive approaches to the surgical correction of sagittal craniosynostosis are gaining favor as an alternative to open cranial vault remodeling. In this... (Review)
Review
Minimally invasive approaches to the surgical correction of sagittal craniosynostosis are gaining favor as an alternative to open cranial vault remodeling. In this systematic review, the reviewers evaluate the variability in described surgical techniques for minimally invasive correction of sagittal craniosynostosis. Articles were selected based on predetermined inclusion and exclusion criteria from an online literature search through PubMed, EMBASE, and the Cochrane library. Extracted data included the incisions, method of dissection, osteotomies performed, and type of force therapy utilized.A total of 28 articles from 15 author groups were included in the final analysis. Of the 28 articles, 17 distinct techniques were identified. Significant variation existed in both the technique and the terminology used to describe it. Access to the cranium varied between a standard bicoronal incision (n = 2), a "lazy S" incision (n = 2), and multiple short incisions along the fused sagittal suture (n = 13). Additional variations were found in the size and design of the osteotomy, the usage (and duration, if applicable) of force therapy, and the age of the patient at the time of surgical intervention.This systematic review demonstrates that minimally invasive approaches to sagittal craniosynostosis vary widely in technique with respect to the incisions, osteotomies, and force therapy used. Additionally, the terminology employed in describing minimally invasive approaches is inconsistent across centers. This discrepancy between technique and terminology presents challenges for reporting and interpreting the increasing body of literature on this subject. We recommend standard terminology be used for future publications on minimally invasive techniques.
Topics: Craniosynostoses; Craniotomy; Humans; Minimally Invasive Surgical Procedures; Treatment Outcome
PubMed: 29023296
DOI: 10.1097/SCS.0000000000003997 -
European Journal of Orthopaedic Surgery... Dec 2023Reconstructive surgery of the clavicle using free vascularised fibula grafting (FVFG) is sometimes required for the management of severe bone loss or non-union. As the... (Review)
Review
Reconstructive surgery of the clavicle using free vascularised fibula grafting (FVFG) is sometimes required for the management of severe bone loss or non-union. As the procedure is relatively rare, there is no universal agreement on the management and outcome. This systematic review aimed to first, identify the conditions for which FVFG has been applied; second, to gain an understanding of the surgical techniques used; and third, to report outcomes related to bone union, infection eradication, function and complications. A PRISMA strategy was used. Medline, Cochrane Central Register of Controlled Trials, Scopus and EMBASE library databases were interrogated using pre-defined MeSH terms and Boolean operators. Quality of evidence was evaluated based on OCEBM and GRADE systems. Fourteen studies based on 37 patients were identified with a mean follow-up time of 33.3 months. The most common reasons for the procedure were: fracture non-union; tumours requiring resection; post-radiation treatment osteonecrosis and osteomyelitis. The operation approaches were similar, involving graft retrieval, insertion and fixation and vessels chosen for reattachment. The mean clavicular bone defect size was 6.6 cm (± 1.5), prior to FVFG. Bone union occurred in 94.6% with good functional outcomes. Complete infection eradication occurred in those with preceding osteomyelitis. The main complications were broken metalwork, delayed union/non-union and fibular leg paraesthesia (n = 20). The mean re-operation number was 1.6 (range 0-5.0). The study demonstrates that FVFG is well tolerated and has a high success rate. However, patients should be advised about complication development and re-intervention requirement. Interestingly, overall data is sparse with no large cohort groups or randomised trials.
Topics: Humans; Fibula; Treatment Outcome; Clavicle; Fractures, Bone; Osteomyelitis; Bone Transplantation; Synostosis
PubMed: 37289244
DOI: 10.1007/s00590-023-03598-8 -
Medicina Oral, Patologia Oral Y Cirugia... Nov 2017Apert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast... (Review)
Review
BACKGROUND
Apert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast growth factor receptor 2. It is characterized by three specific clinical features: brachycephalic skull; midface hypoplasia, and limb abnormalities (syndactyly of hands and feet). The disorder exhibits variable presentations in bones, brain, skin, internal organs, and in the oral/maxillofacial region. The aim of the present paper was to show the main results from a systematic review of AS.
MATERIAL AND METHODS
A search of the literature was performed from April to June 2016 in five electronic databases. Clinical interventional or observational studies, reviews, and case reports were included. The present systematic review was carried out strictly following PRISMA and Cochrane Collaboration criteria.
RESULTS
A total of 129 potential references were identified. After reviewing titles and abstracts, 77 of these did not meet the desired criteria and were discarded. The full text of the remaining 52 manuscripts was critically screened. Finally, 35 relevant papers were identified for inclusion in the present systematic review and classified according to topic type.
CONCLUSIONS
According to the information gathered, dentistry practitioners must be able to supply an early diagnosis through the recognition of AS clinical features and provide correct oral management. Additionally, they should be integrated in a multidisciplinary medical care team in order to improve the quality of life of the affected patients.
Topics: Acrocephalosyndactylia; Child; Dental Care; Humans
PubMed: 29053644
DOI: 10.4317/medoral.21628 -
Molecular Genetics and Genomics : MGG Sep 2022Disorders that result from de-arrangement of growth, development and/or differentiation of the appendages (limbs and digit) are collectively called as inherited...
Disorders that result from de-arrangement of growth, development and/or differentiation of the appendages (limbs and digit) are collectively called as inherited abnormalities of human appendicular skeleton. The bones of appendicular skeleton have central role in locomotion and movement. The different types of appendicular skeletal abnormalities are well described in the report of "Nosology and Classification of Genetic skeletal disorders: 2019 Revision". In the current article, we intend to present the embryology, developmental pathways, disorders and the molecular genetics of the appendicular skeletal malformations. We mainly focused on the polydactyly, syndactyly, brachydactyly, split-hand-foot malformation and clubfoot disorders. To our knowledge, only nine genes of polydactyly, five genes of split-hand-foot malformation, nine genes for syndactyly, eight genes for brachydactyly and only single gene for clubfoot have been identified to be involved in disease pathophysiology. The current molecular genetic data will help life sciences researchers working on the rare skeletal disorders. Moreover, the aim of present systematic review is to gather the published knowledge on molecular genetics of appendicular skeleton, which would help in genetic counseling and molecular diagnosis.
Topics: Brachydactyly; Clubfoot; Humans; Limb Deformities, Congenital; Molecular Biology; Polydactyly; Syndactyly
PubMed: 35907958
DOI: 10.1007/s00438-022-01930-1 -
The Journal of Craniofacial SurgeryBlood loss is a potential cause of morbidity and mortality in craniosynostosis surgery. Recent reports have suggested that the use of tranexamic acid (TXA), an... (Meta-Analysis)
Meta-Analysis
Blood loss is a potential cause of morbidity and mortality in craniosynostosis surgery. Recent reports have suggested that the use of tranexamic acid (TXA), an antifibrinolytic agent, mitigates this blood loss. A comprehensive systematic review and subsequent meta-analysis was undertaken, with the view to clarify the effectiveness of TXA in reducing blood loss and transfusion requirements in craniosynostosis surgery. Medline and PubMed databases were searched using the preferred reporting items for systematic reviews and meta-analyses technique, and 7003 articles were assessed based on predefined selection criteria. Seven trials were identified, of which 2 were randomized controlled trials and the remainder retrospective cohort studies. All trials were assessed using the Jadad and strengthening the reporting of observational studies in epidemiology scores. The meta-analysis found a clear statistical reduction in blood loss in those patients who received TXA perioperatively, with a combined blood loss reduction of 7.06 ml/kg (95% confidence interval -8.97 to -5.15, P < 0.00001). The blood loss reduction was found to extrapolate to a reduction in perioperative transfusion requirements by 8.47 ml/kg in this cohort (95% confidence interval -10.9 to -6.04, P < 00001). There were no TXA-related adverse outcomes recorded in the 258 patients who received TXA across all trials. The trials included in this meta-analysis were limited by underpowered population sizes and significant heterogeneity in blood loss recording techniques. Further, there was significant heterogeneity amongst operations performed. The current literature appears to support the use of TXA in craniosynostosis surgery, but further high quality randomized controlled trials are indicated, ideally including a subgroup analysis between the operations performed.
Topics: Antifibrinolytic Agents; Blood Loss, Surgical; Craniosynostoses; Humans; Retrospective Studies; Tranexamic Acid
PubMed: 34593743
DOI: 10.1097/SCS.0000000000008123 -
Orphanet Journal of Rare Diseases Aug 2019Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies involve the palate in 80% of patients, and the heart in 50-60% of them. The cause of the phenotypic variability is unknown. Patients usually harbor one of three common deletions sizes: 3, 2 and 1.5 Mb, between low copy repeats (LCR) designated A-D, A-C and A-B, respectively. This study aimed to analyze the association between these 3 deletion sizes and the presence of congenital cardiac and/or palatal malformations in individuals with this condition. A systematic review and meta-analysis were conducted, merging relevant published studies with data from Chilean patients to increase statistical power.
RESULTS
Eight articles out of 432 were included; the data from these studies was merged with our own, achieving a total of 1514 and 487 patients to evaluate cardiac and palate malformations, respectively. None of the compared deleted chromosomal segments were statistically associated with cardiac defects (OR: 0.654 [0.408-1.046]; OR : 1.291 [0.860-1.939]) or palate anomalies (OR: 1.731 [0.708-4.234]; OR : 0.628 [0.286-1.382]).
CONCLUSIONS
The lack of association between deletion size and CHD or PA found in this meta-analysis suggests that deletion size does not explain the incomplete penetrance of these 2 major manifestations, and that the critical region for the development of heart and palatal abnormalities is within LCR A-B, the smallest region of overlap among the three deletion sizes.
Topics: Arachnodactyly; Chromosome Deletion; Craniosynostoses; Humans; Marfan Syndrome; Phenotype
PubMed: 31399107
DOI: 10.1186/s13023-019-1170-x -
Journal of Neurosurgery. Pediatrics Jan 2023The current literature on unilateral coronal craniosynostosis is replete with repair techniques and surgical outcomes; however, information regarding neurodevelopment... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
The current literature on unilateral coronal craniosynostosis is replete with repair techniques and surgical outcomes; however, information regarding neurodevelopment remains unclear. Therefore, the aim of this systematic review and meta-analysis was to comprehensively assess the neurodevelopmental outcomes of patients with unicoronal craniosynostosis compared with their healthy peers or normative data.
METHODS
A systematic review of the Ovid MEDLINE, Embase, Web of Science, Scopus, Cochrane Library, and ClinicalTrials.gov databases from database inception to January 19, 2022, was performed. Included studies assessed neurodevelopment of patients with unicoronal craniosynostosis. Two independent reviewers selected studies and extracted data based on a priori inclusion and exclusion criteria. Results of developmental tests were compared with normative data or controls to generate Hedges' g statistics for meta-analysis. The quality of included studies was evaluated using the National Institutes of Health Assessment Tool.
RESULTS
A total of 19 studies were included and analyzed, with an overall fair reporting quality. A meta-analysis of 325 postoperative patients demonstrated that scores of general neurodevelopment were below average but within one standard deviation of the norm (Hedges' g = -0.68 [95% CI -0.90 to -0.45], p < 0.001). Similarly, postoperative patients exhibited lower scores in verbal, psychomotor, and mathematic outcome assessments.
CONCLUSIONS
This systematic review and meta-analysis found that patients with unicoronal craniosynostosis had poorer neurodevelopment, although scores generally remained within the normal range. These data may guide implementation of regular neurocognitive assessments and early learning support of patients with unicoronal craniosynostosis.
Topics: United States; Humans; Craniosynostoses; Outcome Assessment, Health Care; Databases, Factual
PubMed: 36272117
DOI: 10.3171/2022.9.PEDS22283