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Operative Neurosurgery (Hagerstown, Md.) Apr 2024
Topics: Humans; Goldenhar Syndrome; Endoscopy; Cervical Vertebrae; Brain Stem; Decompression
PubMed: 38032213
DOI: 10.1227/ons.0000000000001006 -
European Journal of Paediatric Dentistry Dec 2023Mandibulofacial dysostosis Guion-Almeida Type (MFDGA; OMIM#610536) is a rare autosomal dominant genetic disorder caused by heterozygous pathogenic variants in the EFTUD2...
Mandibulofacial dysostosis Guion-Almeida Type (MFDGA; OMIM#610536) is a rare autosomal dominant genetic disorder caused by heterozygous pathogenic variants in the EFTUD2 gene. Mandibulofacial dysostoses are characterised by the core triad malar hypoplasia, maxillary hypoplasia and dysplastic ears, all derived by the impaired development of the first and second branchial arches. Differential diagnosis is often challenging. The early genetic diagnosis is extremely useful, not only for the correct management of cranial malformations, but also for the early diagnosis and treatment of the comorbidities associated to the disease, which greatly benefit from early treatment.
Topics: Humans; Branchial Region; Mandibulofacial Dysostosis; Diagnosis, Differential; Zygoma; Peptide Elongation Factors; Ribonucleoprotein, U5 Small Nuclear
PubMed: 38015115
DOI: 10.23804/ejpd.2023.24.04.03 -
Operative Neurosurgery (Hagerstown, Md.) Apr 2024
Topics: Humans; Goldenhar Syndrome; Endoscopy; Cervical Vertebrae; Brain Stem; Decompression
PubMed: 37994858
DOI: 10.1227/ons.0000000000001004 -
Orthodontics & Craniofacial Research Jun 2024The study aimed to summarize current knowledge regarding the use of orthopaedic functional appliances (OFA) in managing unilateral craniofacial microsomia (UCM). The... (Review)
Review
The study aimed to summarize current knowledge regarding the use of orthopaedic functional appliances (OFA) in managing unilateral craniofacial microsomia (UCM). The eligibility criteria for the review were (1) assessing use of OFA as a stand-alone treatment and (2) using OFA in combination during or after MDO. The PICO (population, intervention, comparison and outcome) format formulated clinical questions with defined inclusion and exclusion criteria. No limitations concerning language and publication year were applied. Information sources: A literature search of Medline, Scopus, Embase, Cochrane Central Register of Controlled Trials, Web of Science databases without restrictions up to 30 September 2022. The risk of bias was assessed. According to Cochrane and PRISMA guidelines, two independent authors conducted data extraction. The level of evidence for included articles was evaluated based on the Oxford evidence-based medicine database. Due to the heterogeneity of studies and insufficient data for statistical pooling, meta-analysis was not feasible. Therefore, the results were synthesized narratively. A total of 437 articles were retrieved. Of these, nine met inclusion criteria: five assessing OFA and four assessing OFA during or after MDO. There is limited evidence to suggest that stand-alone and combination treatment with OFA is beneficial for treating mild-to-moderate UCM-related dentofacial deformities in short term. No studies assessed the burden of care. In the management of UCM, there is insufficient evidence supporting the efficacy of OFA as a stand-alone treatment or when combined with MDO. Additionally, there is a lack of evidence regarding treatment protocols and the effect on the condyles and the TMJ. The study was registered at Prospero database number CRD42020204969.
Topics: Humans; Goldenhar Syndrome; Orthodontic Appliances, Functional
PubMed: 37987216
DOI: 10.1111/ocr.12729 -
American Journal of Speech-language... Jan 2024Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at... (Review)
Review
INTRODUCTION
Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at increased risk of hearing loss, obstructive sleep apnea, and feeding/swallowing difficulties. The purpose of this scoping review was to summarize evidence pertaining to speech production in CFM.
METHOD
All articles reporting any characteristic of speech production in CFM were included and screened by two independent reviewers by title, abstract, and full text. Data charting captured details related to study population and design, CFM diagnostic criteria, speech outcome measurement, and key findings. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews checklist guided reporting of results. Our protocol was registered on the Open Science Framework (https://osf.io/npr94/) and published elsewhere.
RESULTS
Forty-five articles were included in the detailed review. Most articles originated from the United States, were published in the past decade, and utilized case report/series study design. A speech-language pathologist authored 29%. The prevalence of velopharyngeal insufficiency ranged from 19% to 55% among studies. Oral distortion of alveolar and palatal fricatives and affricates primarily characterized articulation errors. Studies identified increased disordered speech and lower intelligibility in adolescents with CFM compared to unaffected peers. Evidence pertaining to phonatory and respiratory speech findings is limited.
CONCLUSIONS
Evidence supports that individuals with CFM are at increased risk of both velopharyngeal and articulatory speech differences. Additional information is needed to develop speech screening guidelines for children with CFM. Heterogeneity in study design and outcome measurement precludes comparisons across studies.
SUPPLEMENTAL MATERIAL
https://doi.org/10.23641/asha.24424555.
Topics: Child; Adolescent; Humans; United States; Goldenhar Syndrome; Speech; Speech Disorders; Communication Disorders; Phenotype
PubMed: 37931079
DOI: 10.1044/2023_AJSLP-23-00152 -
Journal of Cranio-maxillo-facial... Nov 2023The aim of this study was to investigate the characteristics of condylar resorption in craniofacial microsomia (CFM) patients following mandibular distraction...
The aim of this study was to investigate the characteristics of condylar resorption in craniofacial microsomia (CFM) patients following mandibular distraction osteogenesis (MDO). Patients with unilateral type-IIa and type-IIb CFM, who had completed MDO and mandibular distractor extraction (MDE), were recruited. The height and volume of the condyle were measured on three-dimension models created by the analysis of computed tomography (CT) data. Normality analysis was performed using the Shapiro-Wilk test. Data for the affected and unaffected sides were compared using the paired t-test or Wilcoxon signed-rank test. Data for both type-IIa and type-IIb CFM were compared using the independent-samples t-test or Mann-Whitney U test. The Pearson or Spearman correlation was used to determine the correlations of condylar resorption rate with related measurements. In total, 48 type-IIa and 48 type-IIb CFM patients were included. The condylar resorption rate in type-IIa CFM (0.35 ± 0.32) was significantly associated with the height of the condyle (r = 0.776, p < 0.001) and distraction distance (r = 0.447, p = 0.001), while the condylar resorption rate in type-IIb CFM (0.49 ± 0.46) was significantly associated with the height of the condyle (r = 0.924, p < 0.001). However, there was no significant difference in condylar resorption rate between type-IIa and type-IIb CFM (p = 0.075). In addition to occlusal changes, no other negative symptoms of the TMJ were observed with condylar resorption. Condylar resorption was evident in CFM patients following mandibular distraction osteogenesis, and the condylar resorption rate showed a relationship with distraction distance and condylar height.
Topics: Humans; Goldenhar Syndrome; Retrospective Studies; Osteogenesis, Distraction; Mandible; Tomography, X-Ray Computed; Mandibular Condyle
PubMed: 37852887
DOI: 10.1016/j.jcms.2023.10.001 -
Zhongguo Xiu Fu Chong Jian Wai Ke Za... Oct 2023To preliminarily verify the effectiveness of self-designed artificial condyle-mandibular distraction (AC-MD) complex in the treatment of Pruzansky type ⅡB and Ⅲ...
OBJECTIVE
To preliminarily verify the effectiveness of self-designed artificial condyle-mandibular distraction (AC-MD) complex in the treatment of Pruzansky type ⅡB and Ⅲ hemifacial microsomia (HFM) through model test.
METHODS
Five children with Pruzansky type ⅡB and Ⅲ HFM who were treated with mandibular distraction osteogenesis (MDO) between December 2016 and December 2021 were selected as the subjects. There were 3 boys and 2 girls wih an average age of 8.4 years (range, 6-10 years). Virtual surgery and model test of AC-MD complex were performed according to preoperative skull CT of children. The model was obtained by three-dimensional (3D) printing according to the children's CT data at a ratio of 1∶1. The occlusal guide plate was designed and 3D printed according to the children's toothpaste model. The results of the model test and the virtual surgery were matched in three dimensions to calculate the error of the residual condyle on the affected side, and the model test was matched with the actual skull CT after MDO to measure and compare the inclination rotation of the mandible, the distance between the condylar of the healthy side and the residual condyle of the affected side, and the lengthening length of the mandible.
RESULTS
The error of residual condyle was (1.07±0.78) mm. The inclination rotation of the mandible, the distance between the condylar of the healthy side and the residual condyle of the affected side, and the lengthening length of the mandible after 3D printing model test were significantly larger than those after MDO ( <0.05).
CONCLUSION
In the model test, the implantation of AC-MD complex can immediately rotate the mandible to the horizontal position and improve facial symmetry, and the residual condyle segment can be guided close to the articular fossa or the preset pseudoarticular position of the skull base after operation.
Topics: Male; Child; Female; Humans; Goldenhar Syndrome; Mandible; Osteogenesis, Distraction; Printing, Three-Dimensional; Facial Asymmetry
PubMed: 37848324
DOI: 10.7507/1002-1892.202306022 -
Orthodontics & Craniofacial Research Jun 2024To describe the mandibular growth of craniofacial microsomia (CFM) patients during early childhood to adolescence with attention to symmetry.
OBJECTIVE
To describe the mandibular growth of craniofacial microsomia (CFM) patients during early childhood to adolescence with attention to symmetry.
MATERIALS AND METHODS
Altogether 61 CFM patients were studied at the Cleft Palate and Craniofacial Center, Helsinki University Hospital between 1986 and 2006. In this cohort study, we measured and analysed 293 radiographs (posteroanterior, panoramic and lateral); 165 radiographs of 40 patients met the final inclusion criteria. The vertical height of the ramus in anteroposterior and panoramic radiographs, the length of the mandible in anteroposterior radiographs and the maxillary protrusion and mandibular retrognathia in lateral cephalograms were measured in four different age groups.
RESULTS
A statistical difference existed between the groups in the vertical height of the ramus and in the mandibular length. The vertical height of the ramus measured from the panoramic radiograph grew on both sides, and the ratios remained unchanged. In the sagittal dimension, the maxilla and mandible grew forward, but no significant differences emerged between the groups.
CONCLUSIONS
Results suggest that mild-type CFM is not progressive in nature. During growth, mandibular asymmetry measured in the horizontal, vertical and sagittal planes did not increase.
Topics: Humans; Cephalometry; Child; Mandible; Male; Goldenhar Syndrome; Female; Adolescent; Radiography, Panoramic; Child, Preschool; Maxilla; Cohort Studies; Retrognathia; Age Factors
PubMed: 37822212
DOI: 10.1111/ocr.12719 -
Journal of AAPOS : the Official... Dec 2023Aplasia of the inferior rectus and inferior oblique muscles is extremely rare. Failure of the normal embryologic development of the inferior mesodermal complex can lead...
Aplasia of the inferior rectus and inferior oblique muscles is extremely rare. Failure of the normal embryologic development of the inferior mesodermal complex can lead to agenesis of inferior rectus, inferior oblique, and lower sections of the lateral rectus muscles. This rare condition is usually seen in association with craniofacial syndromes or in conjunction with microcornea, microphthalmos, Axenfeld-Rieger syndrome, and coloboma. The usual treatment for this condition is a reverse Knapp procedure to improve the vertical alignment; however, this procedure can lead to complications, such as anterior segment ischemia, undercorrection, and torsional problems. To our knowledge, unilateral inferior rectus and inferior oblique muscle aplasia has not been described previously in a patient with congenital facial nerve palsy and optic nerve hypoplasia. In the present case, the patient was successfully treated with a modified minimally invasive horizontal rectus muscle transposition procedure.
Topics: Humans; Oculomotor Muscles; Goldenhar Syndrome; Tenotomy; Strabismus; Eye Abnormalities; Ophthalmologic Surgical Procedures
PubMed: 37741493
DOI: 10.1016/j.jaapos.2023.07.015 -
The Journal of Craniofacial SurgeryTobacco smoke is a recognized teratogen, which increases the risk for hemifacial microsomia (HFM) of the fetus during maternal pregnancy. The present study aimed to...
OBJECTIVE
Tobacco smoke is a recognized teratogen, which increases the risk for hemifacial microsomia (HFM) of the fetus during maternal pregnancy. The present study aimed to explore potential mechanisms and verify hub genes of HFM associated with smoke and tobacco smoke pollution (TSP) via bioinformatics methods.
METHODS
Hemifacial microsomia and smoke and TSP pathogenic genes were obtained. A protein-protein interactional (PPI) network was constructed. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses and molecular complex detection were performed by Metascape. Finally, we used the cytoHubba plug-in to screen the hub genes.
RESULTS
A total of 43 HFM genes and 50 optimal smoke candidate genes were selected. Functional enrichment analysis largely focused on tissue morphogenesis and development. Two modules were identified from the PPI network, and 10 hub genes were screened out. The genes most relevant to smoke-induced HFM pathogenesis included TP53 , ESR1 , ESR2 , and HNRNPL.
CONCLUSIONS
This study identified some significant hub genes, pathways, and modules of HFM related to smoke by bioinformatics analyses. Our results suggest that the TP53 , ESR1 , ESR2 , and HNRNPL gene subfamilies may have played a major role in HFM induced by smoke and TSP.
Topics: Humans; Goldenhar Syndrome; Gene Expression Profiling; Protein Interaction Maps; Computational Biology
PubMed: 37665067
DOI: 10.1097/SCS.0000000000009616