A decade of clinical research on clinical characteristics, medical treatments, and surgical treatments for individuals with craniofacial microsomia: What have we learned?

Renkema, R.W.; Caron, Cornelia J.J.M.; Heike, Carrie L.

doi:10.1016/j.bjps.2022.02.058

Cited by 8 publications

(5 citation statements)

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“…(15) En un pequeño porcentaje de casos, alrededor del 10 %-16 %, esta condición afecta ambos lados del rostro y recibe el nombre de microsomía cráneo-facial (MCF). (16) Por otra parte, cuando una persona presenta microsomía hemifacial, se le diagnostica con el síndrome de Goldenhar o displasia oclusal vertebral. La tríada patognomónica del síndrome de Goldenhar incluye la microsomía hemifacial, la presencia de dermolipoma y anormalidades en las estructuras óseas vertebrales.…”

Section: Discussionunclassified

“…La tríada patognomónica del síndrome de Goldenhar incluye la microsomía hemifacial, la presencia de dermolipoma y anormalidades en las estructuras óseas vertebrales. (16,17) Jong Bloet (7) , propuso la hipótesis de que el síndrome de Goldenhar podría derivar de la fertilización de un ovocito envejecido, basándose en el trabajo de Witschi en 1952, quien demostró efectos teratógenos utilizando huevos de ranas envejecidos antes de la fertilización, otra perspectiva fue presentada por Krause en 1970, quien sugirió un posible patrón hereditario al observar la afectación de dos hermanos. Se han documentado casos familiares en generaciones sucesivas, donde existe una historia de matrimonios consanguíneos, lo que plantea la consideración de un posible tipo de herencia.…”

Section: Discussionunclassified

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Goldenhar syndrome, case report

Cordero Alvarez

2024

Salud, Ciencia y Tecnología - Serie de Conferencias

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El síndrome de Goldenhar es un trastorno de nacimiento caracterizado por la presencia de anomalías congénitas que afectan el ojo, las orejas, uno o ambos lados de la cara, así como la columna vertebral, además, puede influir en otras áreas del cuerpo, incluyendo el desarrollo de la mandíbula. La presente investigación tuvo como objetivo general, presentar un informe de caso detallado del Síndrome de Goldenhar, con la finalidad de proporcionar información clínica y contribuir al conocimiento de este síndrome. Se llevó a cabo una investigación de tipo descriptiva, que se basó en la recopilación de datos bibliográficos y el análisis de un estudio de caso, en donde se recopiló información detallada de la paciente suministrada por la madre. Se presenta una paciente peditrica de 11 años, sexo femenino, con manifestaciones clínicas como apéndice periauricular, quiste dermoide ocular y asimetría facial predominando en lado izquierdo, por otra parte, las pruebas psicológicas arrojaron que la paciente tenía dificultad para concentrarse, ansiedad, rumiación sobre el pasado, regresión, inseguridad y necesidad gratificante inmediata. Se concluye que, el manejo de pacientes con Síndrome de Goldenhar, a menudo requiere la colaboración de varios especialistas médicos, como genetistas, otorrinolaringólogos, pediatras y terapeutas, este caso demuestra la necesidad de un enfoque multidisciplinario en la atención médica y enfatiza la importancia de la comunicación y coordinación entre profesionales de diferentes campos.

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Goldenhar syndrome, case report

Cordero Alvarez

2024

Salud, Ciencia y Tecnología - Serie de Conferencias

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“…The spine is also often involved, which can be accompanied by abnormal development of the cervical vertebra, such as hemivertebrae, unsegmented vertebrae, etc 24,25 . The main manifestations of soft tissue hypoplasia in CFM include transverse facial cleft, preauricular skin tags, parotid gland dysplasia or even absence, macrocheilia, etc 21,26 . In addition, CFM often involves hypoplasia of the central nervous system, skeletal system, cardiovascular system, respiratory system, digestive system, urinary system, etc 25 …”

Section: Discussionmentioning

confidence: 99%

Focuses, Trends, and Developments in Craniofacial Microsomia From 1992 to 2022: A Bibliometric Analysis

Liu

Teng²

2023

Journal of Craniofacial Surgery

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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.

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“…Many of the anatomical structures affected in CFM are involved in speech production. Mandibular abnormalities affect between 73% and 91% of individuals with CFM, although laterality and severity of involvement is highly variable ( Caron, Pluijmer, Wolvius, et al, 2017 ; Heike et al, 2016 ; Renkema et al, 2022 ). Mandibular anomalies in CFM range from mild unilateral hypoplasia of the ramus to absence of the temporomandibular joint, mandibular ramus, and/or the condyle ( Kaban et al, 1986 ; Kaya et al, 2019 ; Renkema et al, 2022 ).…”

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confidence: 99%

“…Mandibular abnormalities affect between 73% and 91% of individuals with CFM, although laterality and severity of involvement is highly variable ( Caron, Pluijmer, Wolvius, et al, 2017 ; Heike et al, 2016 ; Renkema et al, 2022 ). Mandibular anomalies in CFM range from mild unilateral hypoplasia of the ramus to absence of the temporomandibular joint, mandibular ramus, and/or the condyle ( Kaban et al, 1986 ; Kaya et al, 2019 ; Renkema et al, 2022 ). Hypoplasia of the masseter and/or other muscles of mastication have been observed in 85%–95% of patients with CFM ( Vento et al, 1991 ).…”

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Characterizing Speech Phenotype in Individuals With Craniofacial Microsomia: A Scoping Review

Kinter,

Kotlarek,

Meehan

et al. 2024

Am J Speech Lang Pathol

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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

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A decade of clinical research on clinical characteristics, medical treatments, and surgical treatments for individuals with craniofacial microsomia: What have we learned?

Cited by 8 publications

References 103 publications

Goldenhar syndrome, case report

Goldenhar syndrome, case report

Focuses, Trends, and Developments in Craniofacial Microsomia From 1992 to 2022: A Bibliometric Analysis

Characterizing Speech Phenotype in Individuals With Craniofacial Microsomia: A Scoping Review

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