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Child's Nervous System : ChNS :... Nov 2022The foramen magnum (FM) presents various alterations in craniosynostoses, such as brachycephaly or Crouzon syndrome. However, to date, no study has been devoted to its...
PURPOSE
The foramen magnum (FM) presents various alterations in craniosynostoses, such as brachycephaly or Crouzon syndrome. However, to date, no study has been devoted to its morphology and morphometry in scaphocephaly, which is the most common of cranial deformities resulting from premature fusion of cranial sutures.
METHODS
We assessed the morphology and morphometry of FM using preoperative thin-cut CT scans of 107 children with non-syndromic sagittal craniosynostosis aged 1-12 months (mean age 5.38 months). A series of sagittal and transverse dimensions were taken and the FM area was calculated in each case. Obtained data were compared to the age-matched control group of 101 normocephalic children.
RESULTS
Dolichotrematous type of FM was dominant in the scaphocephaly group and observed in 63/107 cases (58.9%). The mean FM area in the scaphocephaly group was 519.64 mm and was significantly smaller compared to the control group (p = 0.0011). The transverse diameter and anterior sagittal diameter were also significantly smaller (p = 0.0112 and p = 0.0003, respectively).
CONCLUSION
The area of FM in scaphocephaly is smaller compared to normal individuals. This is associated with a significant reduction of the width of FM in children with sagittal craniosynostosis. FM in scaphocephaly is larger than in other reported series of children with brachycephaly or Crouzon syndrome.
Topics: Child; Humans; Infant; Foramen Magnum; Craniosynostoses; Craniofacial Dysostosis; Cranial Sutures; Tomography, X-Ray Computed; Skull
PubMed: 35931858
DOI: 10.1007/s00381-022-05624-2 -
Hand (New York, N.Y.) Sep 2016Carpal coalition and metacarpal synostosis are uncommon congenital anomalies of the carpus and hand. A comprehensive review of the literature was performed to help... (Review)
Review
Carpal coalition and metacarpal synostosis are uncommon congenital anomalies of the carpus and hand. A comprehensive review of the literature was performed to help guide surgical and non-surgical treatment of carpal coalition and metacarpal synostosis. The embryology, epidemiology, medical and surgical management, and associated outcomes are detailed. Most patients with these disorders will likely benefit from conservative measures. Surgery should be considered in patients with pain and limitations in wrist and hand function.
Topics: Carpal Bones; Humans; Metacarpal Bones; Radiography; Synostosis; Wrist Joint
PubMed: 27698627
DOI: 10.1177/1558944715614860 -
Journal of Comparative Pathology Apr 2020Brachycephalic dog breeds have experienced a marked rise in popularity in recent years. While numerous people clearly desire this phenotype in their pets, many of these... (Review)
Review
Brachycephalic dog breeds have experienced a marked rise in popularity in recent years. While numerous people clearly desire this phenotype in their pets, many of these dogs unfortunately experience several concomitant sequelae, including major problems with respiration and thermoregulation, as well as gastrointestinal, ophthalmological, dermatological, reproductive and even dental problems. This mini review focuses on the anatomical and pathological changes associated with brachycephalic skull shape, including brachycephalic obstructive airway syndrome and other co-existent disorders. It then details the known genetic contributors to brachycephaly, and concludes with a brief discourse on the welfare of these animals.
Topics: Animals; Craniosynostoses; Dog Diseases; Dogs
PubMed: 32359622
DOI: 10.1016/j.jcpa.2020.02.008 -
Foot (Edinburgh, Scotland) Dec 2021The standard of care in the treatment of symptomatic tarsal coalitions is open surgery. However, certain limitations exist with open surgery, which include limited... (Review)
Review
INTRODUCTION
The standard of care in the treatment of symptomatic tarsal coalitions is open surgery. However, certain limitations exist with open surgery, which include limited visualization leading to an incomplete resection and possible recurrence of the tarsal coalition. Arthroscopic tarsal coalition resection (TCR) is an alternative that is gaining traction, primarily as the safety profile of posterior ankle and subtalar arthroscopy is more well understood. This study provides a systematic review of the outcomes of arthroscopic TCR.
METHODS
PubMed and Embase were searched independently by 2 reviewers for relevant articles based on predetermined criteria. The subject heading "tarsal coalition" and its related key terms were used.
RESULTS
A total of 416 studies were revealed by the initial search, out of which only 6 met our predetermined inclusion criteria. A total of 42 patients (average age: 17.6 years) were treated with arthroscopic TCR. Thirty-three (78.6%) and 9 (21.4%) patients had talocalcaneal and calcaneonavicular coalitions, respectively. The follow-up period ranged from 6 to 60 months (mean: 26 months), and no recurrence of the tarsal coalition was detected (0.0%). Complications occurred in two (4.8%) patients only, with one developing complex regional pain syndrome (CRPS), and another patient developing hyperesthesia on the medial aspect of the calcaneus.
CONCLUSION
Arthroscopic TCR is a feasible and effective surgery for both CNC and TCC with minimal complications and no disease recurrence at an average of 26 months follow-up. Future high-level of evidence studies are needed to compare the outcomes of open versus arthroscopic TCR.
Topics: Adolescent; Arthroscopy; Calcaneus; Humans; Synostosis; Tarsal Bones; Tarsal Coalition
PubMed: 34597922
DOI: 10.1016/j.foot.2021.101864 -
Orthodontics & Craniofacial Research Jun 2017It is suggested that craniosynostosis is caused by a heterogeneous set of effects including gene mutations, teratogenic exposure during critical periods of development... (Review)
Review
It is suggested that craniosynostosis is caused by a heterogeneous set of effects including gene mutations, teratogenic exposure during critical periods of development and gene/environment interactions. Distinguishing between sufficient, additive and interactive effects is important to the study of gene/environment interactions and allows for segregation of environmental exposures effecting susceptible populations. Through the identification of sufficient and interactive effects, efforts in prevention of craniosynostosis may be successful. Here, we provide a brief review focusing on defining these categorized exposures and relevant literature that has interrogated gene/environment interactions for craniosynostosis.
Topics: Craniosynostoses; Gene-Environment Interaction; Humans; Mutation; Phenotype
PubMed: 28643932
DOI: 10.1111/ocr.12153 -
International Journal of Biological... 2019Craniosynostosis, is the premature fusion of one or more cranial sutures which is the second most common cranial facial anomalies. The premature cranial sutures leads to... (Review)
Review
Craniosynostosis, is the premature fusion of one or more cranial sutures which is the second most common cranial facial anomalies. The premature cranial sutures leads to deformity of skull shape and restricts the growth of brain, which might elicit severe neurologic damage. Craniosynostosis exhibit close correlations with a varieties of syndromes. During the past two decades, as the appliance of high throughput DNA sequencing techniques, steady progresses has been made in identifying gene mutations in both syndromic and nonsyndromic cases, which allow researchers to better understanding the genetic roles in the development of cranial vault. As the enrichment of known mutations involved in the pathogenic of premature sutures fusion, multiple signaling pathways have been investigated to dissect the underlying mechanisms beneath the disease. In addition to genetic etiology, environment factors, especially mechanics, have also been proposed to have vital roles during the pathophysiological of craniosynostosis. However, the influence of mechanics factors in the cranial development remains largely unknown. In this review, we present a brief overview of the updated genetic mutations and environmental factors identified in both syndromic and nonsyndromic craniosynostosis. Furthermore, potential molecular signaling pathways and its relations have been described.
Topics: Craniosynostoses; Humans; Mutation; Signal Transduction; Skull
PubMed: 30745822
DOI: 10.7150/ijbs.29183 -
American Journal of Human Genetics May 2023Heterozygous pathogenic variants in POLR1A, which encodes the largest subunit of RNA Polymerase I, were previously identified as the cause of acrofacial dysostosis,...
Heterozygous pathogenic variants in POLR1A, which encodes the largest subunit of RNA Polymerase I, were previously identified as the cause of acrofacial dysostosis, Cincinnati-type. The predominant phenotypes observed in the cohort of 3 individuals were craniofacial anomalies reminiscent of Treacher Collins syndrome. We subsequently identified 17 additional individuals with 12 unique heterozygous variants in POLR1A and observed numerous additional phenotypes including neurodevelopmental abnormalities and structural cardiac defects, in combination with highly prevalent craniofacial anomalies and variable limb defects. To understand the pathogenesis of this pleiotropy, we modeled an allelic series of POLR1A variants in vitro and in vivo. In vitro assessments demonstrate variable effects of individual pathogenic variants on ribosomal RNA synthesis and nucleolar morphology, which supports the possibility of variant-specific phenotypic effects in affected individuals. To further explore variant-specific effects in vivo, we used CRISPR-Cas9 gene editing to recapitulate two human variants in mice. Additionally, spatiotemporal requirements for Polr1a in developmental lineages contributing to congenital anomalies in affected individuals were examined via conditional mutagenesis in neural crest cells (face and heart), the second heart field (cardiac outflow tract and right ventricle), and forebrain precursors in mice. Consistent with its ubiquitous role in the essential function of ribosome biogenesis, we observed that loss of Polr1a in any of these lineages causes cell-autonomous apoptosis resulting in embryonic malformations. Altogether, our work greatly expands the phenotype of human POLR1A-related disorders and demonstrates variant-specific effects that provide insights into the underlying pathogenesis of ribosomopathies.
Topics: Humans; Mice; Animals; Mandibulofacial Dysostosis; Apoptosis; Mutagenesis; Ribosomes; Phenotype; Neural Crest; Craniofacial Abnormalities
PubMed: 37075751
DOI: 10.1016/j.ajhg.2023.03.014 -
The International Journal of... 2020Clinical dysmorphology is a medical specialty which requires training to systematically observe aberrations in facial development and to understand patterns in the... (Review)
Review
Clinical dysmorphology is a medical specialty which requires training to systematically observe aberrations in facial development and to understand patterns in the recognition of underlying genetic syndromes. An understanding of normal facial embryology and structure, genetic mechanisms that contribute to facial development and the influence of age, sex, epigenetic, environmental and teratogen effects that contribute to facial dysmorphology are essential. The role of software programmes and databases in achieving diagnoses in subtler phenotypes is growing. A description of specific dysmorphisms of various parts of the human face and key genetic and mechanistic pathways are discussed in this review. Recognizing facial patterns and genetic syndromes efficiently aids in planning appropriate tests, securing an accurate diagnosis, counselling and predicting outcomes and offering interventions and therapies where available.
Topics: Congenital Abnormalities; Craniosynostoses; Embryonic Development; Face; Female; Gene Expression Regulation, Developmental; Humans; Male; Mesoderm; Neural Crest
PubMed: 32658997
DOI: 10.1387/ijdb.190312mb -
The Pan African Medical Journal 2015
Topics: Abnormalities, Multiple; Child, Preschool; Humans; Male; Poland Syndrome
PubMed: 26889305
DOI: 10.11604/pamj.2015.22.124.7972 -
Orphanet Journal of Rare Diseases Sep 2022Against the backdrop of the European Directive on patients' rights in cross-border healthcare, 24 European Reference Networks (ERNs) were launched in 2017. ERNs are...
BACKGROUND
Against the backdrop of the European Directive on patients' rights in cross-border healthcare, 24 European Reference Networks (ERNs) were launched in 2017. ERNs are networks of specialised hospitals working together to support patients with rare and/or complex diseases. ERN CRANIO is the ERN for craniofacial anomalies and ear, nose and throat disorders. The aim of this study was to explore ERN CRANIO's patient coverage of craniosynostosis.
METHODS
ERN CRANIO members and applicants were asked to retrospectively report the number of 'new craniosynostosis patients' (isolated and syndromic) seen in 2017. The number of live births per country in 2017 was retrieved from EUROSTAT, the EU's statistical office. The number of new patients reported per country and the number of live births were used to generate country-specific prevalence figures per 10,000 live births. These figures were compared to expected prevalence ranges for craniosynostosis, and syndromic craniosynostosis specifically, defined by recent European studies. The percentage of syndromic craniosynostosis cases per country was also compared to the expected percentage range.
RESULTS
Based on previous studies, the expected prevalence ranges for craniosynostosis and syndromic craniosynostosis specifically were respectively defined as 4.4-7.2 and 0.9-1.6 patients/10,000 live births. For craniosynostosis ('total'; isolated + syndromic), 'new patient' data from the UK and Finland generated prevalence figures within the expected range, and those in France, Spain, Italy, Portugal and Germany are lower than expected. However, when including applicant data, the prevalence figures for France, Spain and Italy become in range. Data from the Netherlands and Sweden generated higher prevalence figures than expected. For France, Finland, Italy and Sweden, there is inconsistency between patient coverage of 'total' and syndromic patients. For France, Germany, Finland and Italy, the percentage of syndromic craniosynostosis was lower than the expected range.
CONCLUSION
ERN CRANIO's coverage of craniosynostosis varies across Europe. Results may be explained by data collection methods, genetic testing policies and/or national healthcare systems. With centre caseload a driving force for quality, additional ERN membership calls may not necessarily ensure sufficient patient coverage for countries with decentralised healthcare systems. Liaison with national health ministries should be encouraged to optimise patient coverage.
Topics: Craniosynostoses; Europe; Germany; Humans; Retrospective Studies; Spain
PubMed: 36056364
DOI: 10.1186/s13023-022-02475-7