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Prenatal Diagnosis Apr 2024Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses-=CHARGE and Mandibulo-Facial Dysostosis Guion Almeida type...
OBJECTIVE
Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses-=CHARGE and Mandibulo-Facial Dysostosis Guion Almeida type (MFDGA)-versus controls.
METHOD
We trained an automatic model on all profile pictures of children diagnosed with genetically confirmed MFDGA and CHARGE syndromes, and a cohort of control patients, collected from 1981 to 2023 in Necker Hospital (Paris) with a visible external ear. The model consisted in extracting landmarks from photographs of external ears, in applying geometric morphometry methods, and in a classification step using machine learning. The approach was then tested on photographs of two groups of fetuses: controls and fetuses with CHARGE and MFDGA syndromes.
RESULTS
The training set contained a total of 1489 ear photographs from 526 children. The validation set contained a total of 51 ear photographs from 51 fetuses. The overall accuracy was 72.6% (58.3%-84.1%, p < 0.001), and 76.4%, 74.9%, and 86.2% respectively for CHARGE, control and MFDGA fetuses. The area under the curves were 86.8%, 87.5%, and 90.3% respectively for CHARGE, controls, and MFDGA fetuses.
CONCLUSION
We report the first automatic fetal ear phenotyping model, with satisfactory classification performances. Further validations are required before using this approach as a diagnostic tool.
PubMed: 38635411
DOI: 10.1002/pd.6577 -
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 -
Orthodontics & Craniofacial Research Feb 2024Hypoplastic asymmetry due to hemifacial microsomia (HFM) often represents the most difficult reconstruction in the craniomaxillofacial clinic. Although autogenous grafts... (Review)
Review
Hypoplastic asymmetry due to hemifacial microsomia (HFM) often represents the most difficult reconstruction in the craniomaxillofacial clinic. Although autogenous grafts are generally used for temporomandibular joint reconstruction (TMJR), the use of TMJR prostheses is not well established. The aim of this review was to identify, collect and analyse the use of extended TMJR (eTMJR) prostheses in patients with HFM, describing clinical features, surgical procedures and postoperative complications. Online searches of all major databases were performed according to PRISMA guidelines. All studies with HFM patients treated with the eTMJR prostheses were included. Descriptive statistics were used for data analysis. A total of 19 studies, including 08 case studies, 06 case series and 05 retrospective cohort studies, met the inclusion criteria, where a total of 42 HFM patients were reported from 18 countries, mostly from the United States (05; 26%). Fifteen of the 42 cases (~36%) were male. The mean ± SD (range) age of patients in all studies was 19.79 ± 5.81 (9-36) years. The mean ± SD (range) of patient follow-up was 41.30 ± 35.50 (6-136) months. A total of 5 (10.6%) patients were implanted with bilateral eTMJR prostheses. The Pruzansky classification was used in 18 (~89.5%) studies, OMENS classification in 01 (~5%) study, whereas no classification was reported in one study. Only 01 (7.1%) study had documented the eTMJR classification for the prosthesis used. In growing patients with or without a history of failed autogenous tissues, TMJR prostheses may provide a viable alternative. Randomized studies with large cohorts are warranted to validate these preliminary results.
Topics: Adolescent; Adult; Female; Humans; Male; Young Adult; Facial Asymmetry; Goldenhar Syndrome; Joint Prosthesis; Retrospective Studies; Temporomandibular Joint; Temporomandibular Joint Disorders; Child
PubMed: 37533308
DOI: 10.1111/ocr.12695 -
The Journal of Craniofacial Surgery Jun 2024Goldenhar syndrome is a rare congenital disease, characterized by the malformation of craniofacial features, spine, and other organs. Its pathogenesis and impact on...
Goldenhar syndrome is a rare congenital disease, characterized by the malformation of craniofacial features, spine, and other organs. Its pathogenesis and impact on patients' quality of life (QoL) have not been fully elucidated as yet. Therefore, data of all patients with Goldenhar syndrome, who were treated at Hannover Medical School between 1997 and 2020, were analyzed. Forty-three patients were identified. Their medical records were carefully reviewed for data regarding their age, sex, demographics, Pruzansky classification, surgical history, and affected side. Goldenhar syndrome-associated medical conditions, therapeutic procedures, and the impact of disease on QoL were assessed. Their QoL was assessed using the Oral Health Impact Profile (OHIP)-14 questionnaire. The χ 2 test and Pearson correlation were performed for statistical evaluation. Female sex was positively correlated with OHIP outcomes, whereas male sex had a negative correlation with OHIP outcomes. Therefore, females had significantly worse QoL than males. No significant correlation was observed between the Pruzansky classification and QoL or between surgical history and QoL. Goldenhar syndrome is a rare disease that presents with varying severity. Hence, prospective studies are required to further investigate the impact of Goldenhar syndrome on the QoL.
Topics: Humans; Goldenhar Syndrome; Quality of Life; Male; Female; Child; Adolescent; Adult; Child, Preschool; Surveys and Questionnaires; Young Adult; Sex Factors; Retrospective Studies
PubMed: 38385678
DOI: 10.1097/SCS.0000000000010057 -
Lin Chuang Er Bi Yan Hou Tou Jing Wai... Sep 2023By analyzing the clinical phenotypic characteristics and gene sequences of two patients with Treacher Collins syndrome(TCS), the biological causes of the disease...
By analyzing the clinical phenotypic characteristics and gene sequences of two patients with Treacher Collins syndrome(TCS), the biological causes of the disease were determined. Then discuss the therapeutic effect of hearing intervention after bone bridge implantation. All clinical data of the two family members were collected, and the patients signed the informed consent. The peripheral blood of the proband and family members was extracted, DNA was extracted for whole exome sequencing, and Sanger sequencing was performed on the family members for the mutation site.genetic mutations analysis was performed on the paitents. Then, the hearing threshold and speech recognition rate of family 2 proband were evaluated and compared under the sound field between bare ear and wearing bone bridge. In the two pedigrees, the probands of both families presented with auricle deformity, zygomatic and mandibular hypoplasia, micrognathia, hypotropia of the eye fissure, and hypoplasia of the medial eyelashes. The proband of Family 1 also presents with specific features including right-sided narrow anterior nasal aperture and dental hypoplasia, which were consistent with the clinical diagnosis of Treacher Collins syndrome. Genetic testing was conducted on both families, and two heterozygous mutations were identified in the gene: c. 1350_1351dupGG(p. A451Gfs*43) and c. 4362_4366del(p. K1457Efs*12), resulting in frameshift mutations in the amino acid sequence. Sanger sequencing validation of the gene in the parents of the proband in Family 1 did not detect any mutations. Proband 1 c. 1350_1351dupGG heterozygous variants have not been reported previously. The postoperative monosyllabic speech recognition rate of family 2 proband was 76%, the Categories of Auditory Performance(CAP) score was 6, and the Speech Intelligibility Rating(SIR) score was 4. Assessment using the Meaningful Auditory Integration Scale(MAIS) showed notable improvement in the patient's auditory perception, comprehension, and usage of hearing aids. Evaluation using the Glasgow Children's Benefit Inventory and quality of life assessment revealed significant improvements in the child's self care abilities, daily living and learning, social interactions, and psychological well being, as perceived by the parents. This study has elucidated the biological cause of Treacher Collins syndrome, enriched the spectrum of gene mutations in the Chinese population, and demonstrated that bone bridge implantation can improve the auditory and speech recognition rates in TCS patients.
Topics: Child; Humans; Mandibulofacial Dysostosis; Quality of Life; Speech; Parents; Mutation; Nuclear Proteins; Phosphoproteins
PubMed: 37640998
DOI: 10.13201/j.issn.2096-7993.2023.09.011 -
The Journal of Pediatrics Aug 2023To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies (CFAs).
OBJECTIVE
To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies (CFAs).
METHODS
Data on livebirths (1983-2010; n = 721 019) including rare CFA (craniofacial microsomia, mandibulofacial dysostosis, Pierre Robin sequence, Van der Woude syndrome, and frontonasal dysplasia), episodes of death, and demographic and perinatal factors were identified from the Western Australian Register of Developmental Anomalies, Death Registrations and Midwives Notification System. Information on incident craniofacial and noncraniofacial related admissions, length of hospital stay, and intensive care and emergency-related admissions were identified using principal diagnosis and procedural codes were extracted from the Hospital Morbidity Data Collection and linked to other data sources. Associations of hospitalizations by age groups as well as demographic and perinatal factors were expressed as incidence rate ratio (IRR).
RESULTS
The incident hospitalizations were 3 times as high for rare CFA (IRR 3.22-3.72) throughout childhood into adolescence than those without. Children with rare CFA had 3-4 times as many potentially preventable hospitalizations until 18 years of age than those without. Specifically, respiratory infections (IRR 2.13-2.35), ear infections (IRR 7.92-26.28), and oral health-related conditions contributed for most noncraniofacial admissions until the adolescence period. A greater incidence of noncraniofacial related hospitalizations was observed among Indigenous children, births with intrauterine growth restrictions, and families with high socioeconomic disadvantage.
CONCLUSIONS
Throughout childhood, individuals with rare CFA had greater hospital service use, specifically for potentially preventable conditions, than those without. These population-level findings can inform new preventive strategies and early disease management targeted toward reducing preventable hospitalizations.
Topics: Child; Pregnancy; Female; Adolescent; Humans; Western Australia; Australia; Hospitalization; Length of Stay; Cleft Palate
PubMed: 37030611
DOI: 10.1016/j.jpeds.2023.113418 -
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 -
BMJ Case Reports Mar 2024Haemifacial microsomia is an asymmetrical congenital tissue malformation developed from the first and second branchial arches with or without multi-system involvement....
Haemifacial microsomia is an asymmetrical congenital tissue malformation developed from the first and second branchial arches with or without multi-system involvement. Alternatively recognised as Goldenhar syndrome or oculoauriculovertebral spectrum (OAVS), it is an aetiologically heterogeneous group of disorders showing dominant trends in inheritable form.We present a case of a boy in early childhood with concomitant craniofacial features of craniofacial microsomia with Loeys-Dietz syndrome. He had a unilateral hypoplastic face, asymmetrical ear malformations and multiple preauricular tags with epibulbar dermoid (features suggestive of Goldenhar syndrome). On detailed clinical evaluation, he met Beighton's criteria and was diagnosed with arterial tortuosity. Further molecular testing confirmed the diagnosis of Loeys-Dietz syndrome type II.Loeys-Dietz syndrome is characterised by aortic root enlargement or type A dissection with or without other vascular malformations and facial midline defects. Molecular testing is required to establish the diagnosis because of overlapping features with other connective tissue disorders.
Topics: Male; Humans; Child, Preschool; Goldenhar Syndrome; Loeys-Dietz Syndrome; Ear, External; Connective Tissue Diseases; Skin Diseases, Genetic
PubMed: 38471700
DOI: 10.1136/bcr-2023-256740 -
The Cleft Palate-craniofacial Journal :... Aug 2023Nager syndrome (NS) is a rare disease marked with craniofacial and preaxial limb anomalies. In this report, we summarized the current evidence to determine a possible...
Nager syndrome (NS) is a rare disease marked with craniofacial and preaxial limb anomalies. In this report, we summarized the current evidence to determine a possible genotype-phenotype association among NS individuals. Twenty-four articles comprising of 84 NS (including 9 patients with a severe form of NS [Rodriguez syndrome]) patients were examined, of which 76% were caused by variants in (OMIM *605593, Splicing Factor 3B, Subunit 4). Within the gene, variants located in exon 3 commonly occurred (20%) from a total identified variant, while hotspot location was identified in exon 1 (12%), and primarily occurred as frameshift variants (64%). Thirty-five distinct pathogenic variants within gene were identified with two common sites, c.1A > G and c.1060dupC in exons 1 and 5, respectively. Although no significant genotype-phenotype association was found, it is notable that patients with frameshift variants and predicted to lead to nonsense-mediated RNA decay (NMD) of the transcripts tended to have a more severe clinical manifestation. Additionally, patients harboring variants in exons 2 and 3 displayed a higher proportion of cardiac malformations. Taken together, this article summarizes the pathogenic variants observed in and provides a possible genotype-phenotype relationship in this disease.
Topics: Humans; Mutation; Frameshift Mutation; Mandibulofacial Dysostosis; RNA Splicing Factors
PubMed: 35331022
DOI: 10.1177/10556656221089156 -
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