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Taiwanese Journal of Obstetrics &... May 2022To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities.
OBJECTIVE
To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities.
CASE REPORT
We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third trimester (28 weeks); features of micrognathia, hypoplastic zygomatic arches and bilateral low-set microtia were detected. Due to the unknown severity of the craniofacial abnormalities and poor prognosis, the parents decided to terminate the fetus after through counselling. A normal female karyotype was detected. The parents consented to chromosome microarray analysis (CMA), which identified a de novo mutation of the TCS1 gene locus on chromosome 5.
CONCLUSION
Molecular CMA is an effective tool for prenatal diagnosis of congenital craniofacial abnormalities associated with Treacher Collins syndrome.
Topics: Female; Fetus; Humans; Mandibulofacial Dysostosis; Nuclear Proteins; Phosphoproteins; Pregnancy; Prenatal Diagnosis
PubMed: 35595448
DOI: 10.1016/j.tjog.2022.03.020 -
The Cleft Palate-craniofacial Journal :... Sep 2023To (1) appraise current international classification and clinical management strategies for craniofacial microsomia (CFM) and microtia, and (2) to assess agreement with...
To (1) appraise current international classification and clinical management strategies for craniofacial microsomia (CFM) and microtia, and (2) to assess agreement with the European Reference Network "European Guideline Craniofacial Microsomia" recommendations on screening and monitoring. This was a cross-sectional online survey study. The survey consisted of 44 questions on demographics, diagnostics and classification, obstructive sleep apnea, feeding difficulties, speech and language development, hearing, ocular abnormalities, visual development, orthodontic screening, genetic counselling, psychological wellbeing, and extracraniofacial anomalies. Respondents were participants of 3 international cleft and craniofacial conferences, members of the American Cleft Palate and Craniofacial Association and members of the International Society for Auricular Reconstruction. Respondents were requested to complete 1 questionnaire per multidisciplinary team. Fifty-seven responses were received from 30 countries (response rate ∼3%).The International Consortium for Health Outcomes Measurement diagnostic criteria were used by 86% of respondents, though 65% considered isolated microtia a mild form of CFM. The Orbit, Mandible, Ear, Facial Nerve and Soft Tissue classification system was used by 74% of respondents. Agreement with standardized screening and monitoring recommendations was between 61% and 97%. A majority of respondents agreed with screening for extracraniofacial anomalies (63%-68%) and with genetic counselling (81%). This survey did not reveal consistent agreement on the diagnostic criteria for CFM. Respondents mostly supported management recommendations, but frequently disagreed with the standardization of care. Future studies could focus on working towards international consensus on diagnostic criteria, and exploring internationally feasible management strategies.
Topics: Humans; Goldenhar Syndrome; Congenital Microtia; Cross-Sectional Studies; Mandible; Surveys and Questionnaires
PubMed: 35469463
DOI: 10.1177/10556656221093912 -
Chinese Medical Journal Apr 2022Hemifacial microsomia (HFM), which involves multiple sites with different levels of severity, is the second most common congenital craniofacial deformity after cleft lip...
BACKGROUND
Hemifacial microsomia (HFM), which involves multiple sites with different levels of severity, is the second most common congenital craniofacial deformity after cleft lip and palate. However, three-dimensional (3D) measurements of mandibular deformities have not yet been studied in detail. The objective of this study is to investigate the method of 3D measurements of mandibular deformities in HFM patients.
METHODS
A total of 48 HFM patients were included in this study. All clinical treatment for patients was performed in the Plastic Surgery Hospital of the Chinese Academy of Medical Sciences at Peking Union Medical College from June 2006 to June 2020. The patients' 3D computerized tomography scan data were processed using medical imaging software, following four iterative steps: 3D reconstruction, mirroring, differential analysis, and partition.
RESULTS
The characteristics of the mandibular bone in HFM patients are mainly presented as follows: (1) compared to the normal side, the part of the bone body that extends from the ascending ramus to the pogonion (Po-NB) is analyzed using a dynamic process: less fullness-fullness-more fullness; (2) absences were frequently observed among the angular zones, that is, the height of the ascending ramus is deficient.
CONCLUSIONS
HFM is a complicated condition with numerous variations in clinical presentation. We employed both 3D image reconstruction and computerization image processing techniques to investigate asymmetrical mandibular deformity in HFM patients in detail and with great accuracy. This will be of great use to clinicians for disease management.
Topics: Cleft Lip; Cleft Palate; Facial Asymmetry; Goldenhar Syndrome; Humans; Imaging, Three-Dimensional; Mandible
PubMed: 35442230
DOI: 10.1097/CM9.0000000000002116 -
Journal of Clinical Laboratory Analysis May 2022Mandibulofacial dysostosis with microcephaly (MFDM) is a rare multiple malformation syndrome characterized by malar and mandibular hypoplasia and congenital- or...
BACKGROUND
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare multiple malformation syndrome characterized by malar and mandibular hypoplasia and congenital- or postnatal-onset microcephaly induced by haploinsufficiency of (elongation factor Tu GTP-binding domain-containing 2) EFTUD2.
METHODS
We report the case of a 16-month-old boy with MFDM symptoms, including malar and mandibular hypoplasia, microcephaly, micrognathia, midline cleft palate, microtia, auditory canal atresia, severe sensorineural hearing loss, and developmental delay. Whole-exome sequencing (WES) analysis of the patient's family was performed to identify the genetic etiology responsible for this phenotype.
RESULTS
We identified a novel de novo missense mutation (c.671G>T, p.Gly224Val) in the EFTUD2. According to the American College of Medical Genetics and Genomics (ACMG) 2015 guidelines, the c.671G>T mutation was classified as likely pathogenic (PS2, PM1, PM2, and PP3). Based on our findings, prenatal diagnosis was performed on the second baby of the proband's parents to exclude the mutation and it was confirmed that the baby did not have the MFDM phenotype after 14 months of follow-up. Furthermore, the zebrafish model confirmed that the EFTUD2 c.671G>T mutation caused a loss of gene function in EFTUD2, and the pathogenicity of the EFTUD2 c.671G>T mutation was classified as pathogenic (PS2, PS3, PM1, and PM2).
CONCLUSION
Our results indicate that WES is a useful tool for identifying potentially pathogenic mutations, particularly in rare disorders, and is advantageous for genetic counseling and subsequent prenatal diagnosis. Moreover, the importance of functional assays cannot be underestimated, which could further confirm the pathogenicity of the genetic variants.
Topics: Abnormalities, Multiple; Animals; Humans; Mandibulofacial Dysostosis; Microcephaly; Mutation; Mutation, Missense; Peptide Elongation Factors; Phenotype; Ribonucleoprotein, U5 Small Nuclear; Exome Sequencing; Zebrafish
PubMed: 35435265
DOI: 10.1002/jcla.24440 -
The Cleft Palate-craniofacial Journal :... Sep 2023This paper describes 20 years of microtia and craniofacial microsomia (CFM) psychosocial and healthcare studies and suggests directions for clinical care and research. A... (Review)
Review
This paper describes 20 years of microtia and craniofacial microsomia (CFM) psychosocial and healthcare studies and suggests directions for clinical care and research. A narrative review of papers January 2000 to July 2021 related to psychosocial and healthcare experiences of individuals with microtia and CFM and their families. Studies (N = 64) were mainly cross-sectional (69%), included a range of standardized measures (64%), and were with European (31%), American (27%), or multinational (23%) samples. Data were generally collected from both patients and caregivers (38%) or patient self-report (35%). Sample sizes were 11 to 25 (21%), 26 to 50 (19%), 51 to 100 (22%), or over 100 (38%). Studies addressed 5 primary topics: (1) Healthcare Experiences, including Medical Care, Hearing Loss/Amplification, Diagnostic Experiences, and Information Preferences; (2) Psychosocial Experiences, including Teasing, Behavioral Adjustment, Psychosocial Support, and Public Perception; (3) Neurocognitive Functioning and Academic Assistance; (4) Pre- and Post-Operative Psychosocial Outcomes of Ear Reconstruction/Canaloplasty; and (5) Quality of Life and Patient Satisfaction. Care involved multiple specialties and was often experienced as stressful starting at diagnosis. Psychosocial and neurocognitive functioning were generally in the average range, with possible risk for social and language concerns. Coping and resiliency were described into adulthood. Satisfaction and positive benefit of ear reconstruction/canaloplasty were high. Care recommendations include increasing: hearing amplification use, microtia and CFM knowledge among providers, efficient treatment coordination, psychosocial support, academic assistance, and advances to minimize surgical scarring. This broad literature overview informs clinical practice and research to improve psychosocial outcomes.
Topics: Humans; United States; Goldenhar Syndrome; Congenital Microtia; Quality of Life; Cross-Sectional Studies; Adaptation, Psychological
PubMed: 35382590
DOI: 10.1177/10556656221091699 -
Journal of Plastic, Reconstructive &... Jun 2022This article provides a review of a decade of clinical research studies on clinical features, medical interventions, and surgical interventions for individuals with... (Review)
Review
AIM
This article provides a review of a decade of clinical research studies on clinical features, medical interventions, and surgical interventions for individuals with craniofacial microsomia (CFM). We also provide recommendations for future clinical research.
METHOD
A systematic search of literature was conducted in Embase and PubMed/MEDLINE Ovid. All publications from 2010 to 2020 that included at least 10 individuals with CFM were considered relevant for this study.
RESULTS
A total of 91 articles were included. In the past decade, many new studies on CFM have been published providing more insight on the diagnosis and management of patients with CFM. This review encompasses findings on the clinical difficulties patients with CFM encounter, including the craniofacial and extracraniofacial characteristics of patients with CFM and its related clinical consequences on breathing, feeding, speech, and hearing.
CONCLUSIONS
A considerable number of large multicenter studies have been published in recent years, providing new insights in the clinical consequences of CFM. The phenotypic variety between patients with CFM makes patient-specific treatment tailored to individual needs essential. The research and development of clinical care standards might be challenging because of the heterogeneity of CFM. Future research on clinical and patient-reported outcomes can help identify optimal treatment strategies. Cooperation between craniofacial centers, using uniform registration and outcome measurement tools, could enhance research and future care for these patients.
LEVEL OF EVIDENCE
Level IV.
Topics: Goldenhar Syndrome; Humans; PubMed
PubMed: 35365411
DOI: 10.1016/j.bjps.2022.02.058 -
Pediatric Research Dec 2022Accurate knowledge of the relationship between craniofacial anomalies (CFA), intellectual disability (ID) and autism spectrum disorder (ASD) is essential to improve...
BACKGROUND
Accurate knowledge of the relationship between craniofacial anomalies (CFA), intellectual disability (ID) and autism spectrum disorder (ASD) is essential to improve services and outcomes. The aim is to describe the association between CFA, ID and ASD using linked population data.
METHODS
All births (1983-2005; n = 566,225) including CFA births (comprising orofacial clefts, craniosynostosis, craniofacial microsomia and mandibulofacial dysostosis) surviving to 5 years were identified from the birth, death, birth defects and midwives population data sets. Linked data from these data sets were followed for a minimum of 5 years from birth until 2010 in the intellectual disability database to identify ID and ASD. These associations were examined using a modified Poisson regression.
RESULTS
Prevalence of ID and ASD was higher among CFA (especially with additional anomalies) than those without [prevalence ratio 5.27, 95% CI 4.44, 6.25]. It was higher among CFA than those with other gastrointestinal and urogenital anomalies but lower than nervous system and chromosomal anomalies. Children with CFA and severe ID had a higher proportion of nervous system anomalies.
CONCLUSIONS
Findings indicate increased ID and ASD among CFA but lower than nervous system and chromosomal anomalies. This population evidence can improve early identification of ID/ASD among CFA and support service planning.
IMPACT
Our study found about one in ten children born with craniofacial anomalies (CFA) are later identified with intellectual disability (ID). Prevalence of ID among CFA was higher than those with other gastrointestinal, urogenital, and musculoskeletal birth defects but lower than those with the nervous system and chromosomal abnormalities. Most children with craniofacial anomalies have a mild-to-moderate intellectual disability with an unknown aetiology. On average, intellectual disability is identified 2 years later for children born with non-syndromic craniofacial anomalies than those with syndromic conditions. Our findings can improve the early identification of ID/ASD among CFA and support service planning.
Topics: Child; Pregnancy; Female; Humans; Autism Spectrum Disorder; Intellectual Disability; Cleft Lip; Australia; Cleft Palate
PubMed: 35352007
DOI: 10.1038/s41390-022-02024-9 -
BMJ Case Reports Mar 2022A female patient in her early 20s, with a known diagnosis of hemifacial microsomia (unilateral microtia and mandibular hypoplasia) accompanied with an unoperated cleft...
A female patient in her early 20s, with a known diagnosis of hemifacial microsomia (unilateral microtia and mandibular hypoplasia) accompanied with an unoperated cleft palate, came for an infected mandibular distraction plate removal. The anticipated difficult airway and lack of enough literature about what to expect in such a scenario, along with the psychological impact on the patient, made this case challenging and thought-provoking. Inability to perform the awake tracheal intubation because of the uncooperative patient, along with the difficult fibreoptic owing to narrowed nostrils, offered an extra set of challenges.
Topics: Adult; Cleft Palate; Facial Asymmetry; Female; Goldenhar Syndrome; Humans; Mandible; Micrognathism
PubMed: 35338041
DOI: 10.1136/bcr-2021-247858 -
European Journal of Paediatric Dentistry Mar 2022Otodental syndrome and Treacher Collins syndrome are rare diseases that have similar clinical features, which can complicate the diagnostic process. These syndromes...
BACKGROUND
Otodental syndrome and Treacher Collins syndrome are rare diseases that have similar clinical features, which can complicate the diagnostic process. These syndromes cause skeletal and dental abnormalities, the differential diagnosis can be based on clinical signs but only the genetic analysis can confirm it. The aim of this case report is to describe and compare clinical signs of these syndromes.
CASE REPORT
A 7-year-old patient came to our department: he presented abnormal tooth shapes and sizes, delayed teeth replacement and micrognathia. After extra- and intra-oral examination and radiographic exams, a clinical diagnosis of otodental syndrome was made, and a genetic testing was requested to confirm the diagnosis.
CONCLUSION
Dental management of patients with otodental syndrome is challenging due to agenesis, teeth malformation, lack of space for permanent dentition. Proper treatment decision is crucial to obtain the best result for the patient.
Topics: Child; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 11; Coloboma; Diagnosis, Differential; Hearing Loss, Sensorineural; Humans; Male; Mandibulofacial Dysostosis; Tooth Abnormalities
PubMed: 35274545
DOI: 10.23804/ejpd.2022.23.01.12 -
Discovery Medicine 2021In eukaryotes, spliceosomes catalyze the splicing of pre-mRNA to mature mRNA. As the core subunit of U2 spliceosome, splicing factor SF3b4 plays not only a crucial role... (Review)
Review
In eukaryotes, spliceosomes catalyze the splicing of pre-mRNA to mature mRNA. As the core subunit of U2 spliceosome, splicing factor SF3b4 plays not only a crucial role in the splicing process, but also a role in transcription, translation, and cell signal transduction, and participates in the regulation of cell cycle, cell differentiation, and immune deficiency. In recent years, more and more research studies on SF3b4-related diseases, such as Nager syndrome and cancer, have been conducted. It has been found that SF3b4 mutations led to abnormal cell growth and were involved in the development and occurrence of these diseases. In this review, the diseases, mainly congenital diseases and tumors, in which SF3B4 is involved and the pathogenesis of them were summarized, aiming to provide a better understanding of the roles of SF3B4 in the prevention, diagnosis, and treatment of diseases in the future.
Topics: Humans; Mandibulofacial Dysostosis; Mutation; Neoplasms; RNA Splicing; RNA Splicing Factors
PubMed: 35220998
DOI: No ID Found