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Frontiers of Medicine Oct 2023
Topics: Humans; Goldenhar Syndrome; Phenotype; Mutation; DNA-Binding Proteins; Protein Tyrosine Phosphatases; Peptide Elongation Factors; Ribonucleoprotein, U5 Small Nuclear
PubMed: 37507637
DOI: 10.1007/s11684-023-1000-3 -
The Journal of Craniofacial SurgeryThere is a current lack of scientific bibliometric analyses in craniofacial microsomia (CFM) and relevant fields. Craniofacial microsomia is a congenital disease...
There is a current lack of scientific bibliometric analyses in craniofacial microsomia (CFM) and relevant fields. Craniofacial microsomia is a congenital disease resulting from a series of structural malformations involving the first and second branchial arches. Craniofacial microsomia and related fields have attracted the attention of clinicians and interested researchers worldwide. This study summarizes the research status and focuses to help researchers fully grasp the current research situation of CFM and relevant fields in the past three decades and drive future research into new publications. Literature data were retrieved from the Web of Science Core Collection database. Results Analysis and Citation Report of Web of Science, and CiteSpace software were used to evaluate and visualize the results, including publication characteristics, disciplines, journals, literature, countries/regions, institutions, authors, research focuses, etc. A total of 949 original articles and reviews were included after manual screening, and the overall trend of the number of annual publications and citations was increasing. According to the analysis, the description of the clinical characteristics of CFM, the classification of CFM, and mandibular distraction osteogenesis have always been the focus of research in this field. Besides, with the continuous progress of new technologies such as gene sequencing and the expansion of researchers' understanding of diseases, research on genetics and etiology related to CFM has been a developing trend.
Topics: Humans; Goldenhar Syndrome; Mandible; Bibliometrics; Branchial Region; Databases, Factual
PubMed: 37477192
DOI: 10.1097/SCS.0000000000009547 -
The Cleft Palate-craniofacial Journal :... Nov 2023Goldenhar syndrome (GS) is a rare congenital disorder characterized by multiple facial anomalies. This case report describes a GS presenting with bilateral cleft lip and...
Goldenhar syndrome (GS) is a rare congenital disorder characterized by multiple facial anomalies. This case report describes a GS presenting with bilateral cleft lip and palate and bilateral transverse facial cleft. We performed a single-stage surgery to repair the bilateral cleft lip and bilateral transverse facial cleft when the patient was 4-months-old. Bilateral cleft lip repair using the Mulliken method was performed first, and then the bilateral transverse facial cleft was corrected. Orbicularis oris muscle repair was done at each clefts. Anatomical approximation technique was used and the final oral commissure was determined considering symmetry. Satisfactory outcomes were achieved without complications.
Topics: Humans; Infant; Cleft Lip; Goldenhar Syndrome; Cleft Palate; Lip; Facial Muscles; Abnormalities, Multiple
PubMed: 37448161
DOI: 10.1177/10556656231161990 -
Sleep Science (Sao Paulo, Brazil) Jun 2023This study aimed at evaluating the risk for obstructive sleep apnea (OSA) and its frequency in adults with Treacher Collins syndrome (TCS). The association of OSA...
Obstructive Sleep Apnea in Adults with Treacher Collins Syndrome is Related with Altered Anthropometric Measurements, Increased Blood Pressure and Impaired Quality of Life.
This study aimed at evaluating the risk for obstructive sleep apnea (OSA) and its frequency in adults with Treacher Collins syndrome (TCS). The association of OSA with excessive daytime sleepiness (EDS), respiratory symptoms, and clinical variables was also assessed. The subjects were prospectively screened for OSA through the Berlin Questionnaire and type I polysomnography. The Epworth Sleepiness Scale and the Respiratory Symptoms Questionnaire were used for assessing OSA-related symptoms. Quality of life was assessed by means of the Short Form 36 Health Survey. The sample comprised 20 adults with TCS (55.0% female), aged 22.6 ± 5.8 years. Mean values of systemic blood pressure (113.0 ± 12.6/68.0 ± 9.5mmHg), body mass index (22.9 ± 5.9kg/m ), neck (34.1 ± 4.3cm), and waist circumference (80.4 ± 13.6cm) characterized the sample. A high risk for OSA was detected in 35% of the sample. Polysomnography results indicated an OSA frequency of 44.4%, with a median apnea-hypopnea index (AHI) value of 3.8 events/hour (minimum = 0.2; maximum = 77.5). Snoring (75.0%), nasal obstruction (70.0%) and EDS (20.0%) were the reported OSA-related symptoms. Quality of life median scores were 72.3 points (minimum = 45.0; maximum = 91.1). Strong positive correlations between AHI versus waist circumference and AHI versus systolic blood pressure were found. Moderate positive correlations between AHI versus body mass index and AHI versus neck circumference were detected. Negative correlation between AHI versus vitality were also observed. Adults with TCS are at high risk for OSA, which is associated with respiratory symptoms, altered anthropometric measurements, increased systolic pressure and impairment of quality of life.
PubMed: 37425978
DOI: 10.1055/s-0043-1770802 -
Journal of Cranio-maxillo-facial... Jun 2023This study aimed to evaluate the effect of mandibular distraction osteogenesis (MDO) on respiratory function in CFM patients with obstructive sleep apnea (OSA) according...
This study aimed to evaluate the effect of mandibular distraction osteogenesis (MDO) on respiratory function in CFM patients with obstructive sleep apnea (OSA) according to polysomnography (PSG). This study retrospectively analyzed patients with CFM who underwent PSG before surgery and after completion of mandible distraction. Patients who met the inclusion criteria were selected. The Pediatric Sleep Questionnaire (PSQ) was used to assess patients' signs and symptoms related to OSA. The obstructive apnea-hypopnea index (OAHI) and lowest oxygen saturation (LSaO) were imported into SPSS version 26.0. The Wilcoxon signed-rank test was used to assess the differences in PSG before and after MDO. Other data were described using descriptive statistics. A P-value less than 0.05 was considered statistically significant. A total of 25 unilateral CFM patients were included in this study. Most patients (72%) had mild OSA; moderate and severe OSA were 12% and 16%, respectively. Snoring (52%) was the most common symptom among these patients. After completion of mandibular distraction, snoring and other OSA-related symptoms were significantly improved. Twelve patients had normalized PSG and the severity of OSA improved significantly in 3 patients. The total effective rate of MDO for OSA was 60%. The statistical results showed that OAHI (P = 0.045) decreased and LSaO (P = 0.009) increased significantly compared to preoperative values. MDO can improve OSA-related symptoms in CFM patients. In addition, respiratory function was improved in most patients after MDO, based on PSG. CFM patients, especially those with OSA, can benefit from MDO.
Topics: Child; Humans; Retrospective Studies; Goldenhar Syndrome; Snoring; Osteogenesis, Distraction; Sleep Apnea, Obstructive; Mandible
PubMed: 37355371
DOI: 10.1016/j.jcms.2023.05.006 -
BMC Anesthesiology Jun 2023Goldenhar syndrome is a congenital disease that involves an absence or underdevelopment of structures that arise from the first and second pharyngeal arches and more or...
BACKGROUND
Goldenhar syndrome is a congenital disease that involves an absence or underdevelopment of structures that arise from the first and second pharyngeal arches and more or less severe extracranial anomalies. A variety of supraglottic malformations may be observed, including mandibular hypoplasia, mandibular asymmetry and micrognathia. Subglottic airway stenosis (SGS), which can cause difficulties in airway management during the perioperative period, is seldom emphasized in literature descriptions of Goldenhar syndrome, but can be clinically significant.
CASE PRESENTATION
An 18-year-old female with a history of Goldenhar syndrome presented for placement of a right mandibular distractor, right retroauricular dilator, and stage I transfer of a prefabricated expanded flap under general anesthesia. During tracheal intubation, the endotracheal tube (ETT) met resistance unexpectantly when attempting to pass through the glottis. Subsequently, we attempted the procedure with a smaller size ETT but again met resistance. With fiberoptic bronchoscope, we found that the whole segment of the trachea and bilateral bronchi were obvious narrow. Given the finding of unexpected severe airway stenosis and the associated risks with proceeding with the surgery, the operation was cancelled. We removed the ETT once the patient was fully awake.
CONCLUSIONS
Anesthesiologists should be aware of this clinical finding when evaluating the airway of a patient with Goldenhar syndrome. Coronal and sagittal measurements on computerized tomography (CT) and three-dimensional image reconstruction can be used to evaluate the degree of subglottic airway stenosis and measure the diameter of the trachea.
Topics: Female; Humans; Adolescent; Goldenhar Syndrome; Constriction, Pathologic; Intubation, Intratracheal; Trachea; Glottis
PubMed: 37328815
DOI: 10.1186/s12871-023-02179-w -
American Journal of Medical Genetics.... Oct 2023The oculoauriculofrontonasal syndrome (OAFNS) is a rare condition, with unknown etiology, characterized by the association of frontonasal dysplasia (FND) and... (Review)
Review
The oculoauriculofrontonasal syndrome (OAFNS) is a rare condition, with unknown etiology, characterized by the association of frontonasal dysplasia (FND) and oculoauriculovertebral spectrum (OAVS). Main clinical findings include widely spaced eyes, epibulbar dermoid, broad nose, mandibular hypoplasia, and preauricular tags. Here, we describe a case series of 32 Brazilian individuals with OAFNS and review the literature ascertaining individuals presenting phenotypes compatible with the diagnosis of OAFNS, aiming to refine the phenotype. This series emphasizes the phenotypic variability of the OAFNS and highlights the occurrence of rare craniofacial clefts as a part of the phenotype. The ectopic nasal bone, a hallmark of OAFNS, was frequent in our series, reinforcing the clinical diagnosis. The absence of recurrence, consanguinity, chromosomal, and genetic abnormalities reinforces the hypothesis of a nontraditional inheritance model. The phenotypic refinement provided by this series contributes to an investigation regarding the etiology of OAFNS.
Topics: Humans; Ear, External; Eye Abnormalities; Spine; Goldenhar Syndrome; Phenotype
PubMed: 37282829
DOI: 10.1002/ajmg.a.63319 -
The Journal of Pediatrics Oct 2023To report associated congenital anomalies with unexplained craniofacial microsomia (CFM) and the phenotypic overlap with other recurrent constellations of embryonic...
OBJECTIVE
To report associated congenital anomalies with unexplained craniofacial microsomia (CFM) and the phenotypic overlap with other recurrent constellations of embryonic malformations (RCEM), and to assess prenatal and perinatal risk factors.
STUDY DESIGN
This is a retrospective cross-sectional study. Cases with CFM, delivered between January 1, 1997, and December 31, 2019, were abstracted from the population-based Alberta Congenital Anomalies Surveillance System. Livebirths, stillbirths, and early fetal losses were reviewed to include all types of pregnancy outcomes along the spectrum of this condition. Prenatal and perinatal risk factors were compared with the Alberta birth population to assess differences between the 2 groups.
RESULTS
There were 63 cases with CFM, yielding a frequency of 1 per 16 949. There was a high rate of cases (65%) with anomalies outside the craniofacial and vertebral regions. Congenital heart defects were the most common (33.3%). A single umbilical artery was found in 12.7% of cases. The twin/triplet rate of 12.7% was significantly higher than the Alberta rate of 3.3% (P < .0001). There was an overlap with a second RCEM condition in 9.5% of cases.
CONCLUSIONS
Although CFM is primarily a craniofacial condition, the majority of cases have congenital anomalies affecting other systems requiring additional assessments, including an echocardiogram, renal ultrasound examination, and a complete vertebral radiograph. The high rate of an associated single umbilical artery raises the possibility of a related etiological mechanism. Our findings support the proposed concept of RCEM conditions.
Topics: Female; Pregnancy; Humans; Goldenhar Syndrome; Retrospective Studies; Single Umbilical Artery; Alberta; Cross-Sectional Studies; Risk Factors
PubMed: 37268037
DOI: 10.1016/j.jpeds.2023.113528 -
The Journal of Craniofacial Surgery Sep 2023Characteristics of patients with craniofacial microsomia (CFM) vary in type and severity. The diagnosis is based on phenotypical assessment and no consensus on...
Characteristics of patients with craniofacial microsomia (CFM) vary in type and severity. The diagnosis is based on phenotypical assessment and no consensus on standardized clinical diagnostic criteria is available. The use of diagnostic criteria could improve research and communication among patients and healthcare professionals. Two sets of phenotypic criteria for research were independently developed and based on multidisciplinary consensus: the FACIAL and ICHOM criteria. This study aimed to assess the sensitivity of both criteria with an existing global multicenter database of patients with CFM and study the characteristics of patients that do not meet the criteria. A total of 730 patients with CFM from were included. Characteristics of the patients were extracted, and severity was graded using the O.M.E.N.S. and Pruzansky-Kaban classification. The sensitivity of the FACIAL and ICHOM was respectively 99.6% and 94.4%. The Cohen's kappa of 0.38 indicated a fair agreement between both criteria. Patients that did not fulfill the FACIAL criteria had facial asymmetry without additional features. It can be concluded that the FACIAL and ICHOM criteria are accurate criteria to describe patients with CFM. Both criteria could be useful for future studies on CFM to create comparable and reproducible outcomes.
Topics: Humans; Goldenhar Syndrome; Facial Asymmetry; Face; Health Personnel; Patients
PubMed: 37264504
DOI: 10.1097/SCS.0000000000009446