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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 -
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 -
Journal of Clinical Medicine Feb 2022The aim of this study was to describe the ophthalmic abnormalities and their prevalence in craniosynostosis prior to craniofacial surgery. (Review)
Review
BACKGROUND
The aim of this study was to describe the ophthalmic abnormalities and their prevalence in craniosynostosis prior to craniofacial surgery.
METHODS
A systematic search was conducted on Medline OVID, Embase, Cochrane, Google Scholar, Web of Science Core Collection. Inclusion criteria were English papers, children aged <18 years with non-syndromic and syndromic craniosynostosis, case reports, case series, and case-control studies. A system of domains was established consisting of an anatomic and functional ophthalmic domain. A meta-analysis of single proportions was carried out using random effects model and pooled mean proportions with 95% confidence intervals (CI) were calculated.
RESULTS
Thirty-two papers analyzing 2027 patients were included. Strabismus was the most common anomaly in non-syndromic craniosynostosis: Horizontal strabismus was highest prevalent in unicoronal craniosynostosis (UCS) 19% (95% CI 9-32), followed by vertical strabismus 17% (95% CI 5-33). In syndromic craniosynostosis, horizontal strabismus was most prevalent in Crouzon syndrome 52% (95 CI 26-76), followed by Apert syndrome 50% (95% CI 42-58). Vertical strabismus was most prevalent in Saethre-Chotzen 60% followed by Muenke's syndrome 36%. Furthermore, astigmatism was the second most reported outcome in non-syndromic craniosynostosis and highest prevalent in UCS 35% (95% CI 21-51). In syndromic craniosynostosis, astigmatism was most frequently seen in Crouzon syndrome 43% (95% CI 22-65), followed by Apert syndrome 34% (95% CI 14-58). Moreover, in syndromic craniosynostosis, 5-40% had a decrease in visual acuity (VA) ≤ 0.3 LogMAR in the better eye and 11-65% had a VA ≤ 0.3 LogMAR in at least one eye.
DISCUSSION
This review demonstrates the high prevalence of ocular anomalies in non-syndromic and syndromic craniosynostosis. A multidisciplinary and systematic approach is needed for the screening and optimal treatment of these conditions in a timely manner.
PubMed: 35207332
DOI: 10.3390/jcm11041060 -
Dento Maxillo Facial Radiology Feb 2018To systematically review the methodological quality of three-dimensional imaging studies of patients with craniofacial syndromes and to propose recommendations for... (Review)
Review
OBJECTIVES
To systematically review the methodological quality of three-dimensional imaging studies of patients with craniofacial syndromes and to propose recommendations for future research.
METHODS
PubMed, Embase and Cochrane databases as well as Grey literature were electronically searched. Inclusion criteria were patients with genetic syndromes with craniofacial manifestations and three-dimensional imaging of facial soft and/or hard tissues. Exclusion criteria consisted of non-syndromic conditions or conditions owing to environmental causes, injury or trauma, facial soft and hard tissues not included in the image analysis, case reports, reviews, opinion articles. No restrictions were made for patients' ethnicity nor age, publication language or publication date. Study quality was evaluated using the Methodological Index for Non-Randomized Studies (MINORS).
RESULTS
The search yielded 2228 citations of which 116 were assessed in detail and 60 were eventually included in this review. Studies showed a large heterogeneity in study design, sample size and patient age. An increase was observed in the amount of studies with time, and the imaging method most often used was CT. The most studied craniofacial syndromes were Treacher Collins, Crouzon and Apert syndrome. The articles could be divided into three main groups: diagnostic studies (34/60, 57%), evaluation of surgical outcomes (21/60, 35%) and evaluation of imaging techniques (5/60, 8%). For comparative studies, the median MINORS score was 13 (12-15, 25-75th percentile), and for non-comparative studies, the median MINORS score was 8 (7-9, 25-75th percentile).
CONCLUSIONS
The median MINORS scores were only 50 and 54% of the maximum scores and there was a lack of prospective, controlled trials with sufficiently large study groups. To improve the quality of future studies in this domain and given the low incidence of craniofacial syndromes, more prospective multicentre controlled trials should be set up.
Topics: Craniofacial Abnormalities; Face; Humans; Imaging, Three-Dimensional; Syndrome
PubMed: 29168926
DOI: 10.1259/dmfr.20170154