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Birth Defects Research. Part C, Embryo... Sep 2014This review provides an overview of the state and future directions of development and pathology in the craniofacial complex in the context of Cranial Neural Crest Cells... (Review)
Review
This review provides an overview of the state and future directions of development and pathology in the craniofacial complex in the context of Cranial Neural Crest Cells (CNCC). CNCC are a multipotent cell population that is largely responsible for forming the vertebrate head. We focus on findings that have increased the knowledge of gene regulatory networks and molecular mechanisms governing CNCC migration and the participation of these cells in tissue formation. Pathology due to aberrant migration or cell death of CNCC, termed neurocristopathies, is discussed in addition to craniosynostoses. Finally, we discuss tissue engineering applications that take advantage of recent advancements in genome editing and the multipotent nature of CNCC. These applications have relevance to treating diseases due directly to the failure of CNCC, and also in restoring tissues lost due to a variety of reasons.
Topics: Animals; Cell Differentiation; Cell Movement; Craniosynostoses; Disease Models, Animal; Gene Regulatory Networks; Humans; Neural Crest; Tissue Engineering; Vertebrates
PubMed: 25227212
DOI: 10.1002/bdrc.21075 -
Indian Journal of Dermatology,... 2010
Topics: Acrocephalosyndactylia; Female; Humans; Infant; Isotretinoin; Male; Young Adult
PubMed: 21079334
DOI: 10.4103/0378-6323.72479 -
Scientific Reports Feb 2022Clinical diagnosis of craniofacial anomalies requires expert knowledge. Recent studies have shown that artificial intelligence (AI) based facial analysis can match the...
Clinical diagnosis of craniofacial anomalies requires expert knowledge. Recent studies have shown that artificial intelligence (AI) based facial analysis can match the diagnostic capabilities of expert clinicians in syndrome identification. In general, these systems use 2D images and analyse texture and colour. They are powerful tools for photographic analysis but are not suitable for use with medical imaging modalities such as ultrasound, MRI or CT, and are unable to take shape information into consideration when making a diagnostic prediction. 3D morphable models (3DMMs), and their recently proposed successors, mesh autoencoders, analyse surface topography rather than texture enabling analysis from photography and all common medical imaging modalities and present an alternative to image-based analysis. We present a craniofacial analysis framework for syndrome identification using Convolutional Mesh Autoencoders (CMAs). The models were trained using 3D photographs of the general population (LSFM and LYHM), computed tomography data (CT) scans from healthy infants and patients with 3 genetically distinct craniofacial syndromes (Muenke, Crouzon, Apert). Machine diagnosis outperformed expert clinical diagnosis with an accuracy of 99.98%, sensitivity of 99.95% and specificity of 100%. The diagnostic precision of this technique supports its potential inclusion in clinical decision support systems. Its reliance on 3D topography characterisation make it suitable for AI assisted diagnosis in medical imaging as well as photographic analysis in the clinical setting.
Topics: Artificial Intelligence; Computer Simulation; Craniosynostoses; Face; Head; Humans; Image Processing, Computer-Assisted; Imaging, Three-Dimensional; Infant; Tomography, X-Ray Computed
PubMed: 35140239
DOI: 10.1038/s41598-021-02411-y -
Journal of Medical Genetics Sep 1973A review of the radiographs of children previously classified as achondroplasiacs revealed six thanatophoric dwarfs. The main radiological differentiating features were...
A review of the radiographs of children previously classified as achondroplasiacs revealed six thanatophoric dwarfs. The main radiological differentiating features were the greater degree of shortening of the long bones, including the fibula, the curvature of the femora, the very small size of the thorax and, particularly, the very narrow ossified elements of the vertebral bodies. Perhaps the most important aspect of differential diagnosis lies in recognition . The reported association with clover-leaf deformity of the skull in sibs provides the strongest evidence for genetic differentiation from classical achondroplasia. More evidence might be obtained by a widespread search through hospital radiological museums.
Topics: Achondroplasia; Adult; Autopsy; Bone and Bones; Chromosome Aberrations; Chromosome Disorders; Craniofacial Dysostosis; Diagnosis, Differential; Dwarfism; Female; Fetal Death; Humans; Infant, Newborn; Ossification, Heterotopic; Pregnancy; Radiography; Skull
PubMed: 4204337
DOI: 10.1136/jmg.10.3.243 -
BMJ Case Reports May 2021Poland's syndrome (PS) is a rare developmental anomaly that can manifest mild (pectoralis muscles involvement) to severe deformities (rib hypoplasia and hand...
Poland's syndrome (PS) is a rare developmental anomaly that can manifest mild (pectoralis muscles involvement) to severe deformities (rib hypoplasia and hand deformities). We report a case of 69-year-old man who presented to the emergency department with a traumatic chest injury after a fall. It was initially thought to have a significant chest injury as the trauma survey revealed a palpable defect and tenderness in the right anterior chest wall. There was also a symbrachydactyly deformity in the right hand. CT of the chest showed lack of right pectoralis muscles, which were consistent with PS. This case highlights the importance of gathering detail history in adult trauma patients such as congenital disorder especially in the presence of bony deformity. With possibilities of several traumatic conditions in trauma patients eliminated, one can expand the non-traumatic differential, keeping in mind the possibility of a congenital disorder that can mimic traumatic chest injury.
Topics: Adult; Aged; Humans; Male; Pectoralis Muscles; Poland Syndrome; Syndactyly; Thoracic Injuries; Thorax
PubMed: 34059541
DOI: 10.1136/bcr-2020-241408 -
European Journal of Endocrinology Dec 2016Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which... (Review)
Review
OBJECTIVE
Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which encompasses rare, related and highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and the results of an in vitro assay to measure Gsa protein activity. However, this classification disregards other related diseases such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), as well as recent findings of clinical and genetic/epigenetic background of the different subtypes. Therefore, the EuroPHP network decided to develop a new classification that encompasses all disorders with impairments in PTH and/or PTHrP cAMP-mediated pathway.
DESIGN AND METHODS
Extensive review of the literature was performed. Several meetings were organised to discuss about a new, more effective and accurate way to describe disorders caused by abnormalities of the PTH/PTHrP signalling pathway.
RESULTS AND CONCLUSIONS
After determining the major and minor criteria to be considered for the diagnosis of these disorders, we proposed to group them under the term 'inactivating PTH/PTHrP signalling disorder' (iPPSD). This terminology: (i) defines the common mechanism responsible for all diseases; (ii) does not require a confirmed genetic defect; (iii) avoids ambiguous terms like 'pseudo' and (iv) eliminates the clinical or molecular overlap between diseases. We believe that the use of this nomenclature and classification will facilitate the development of rationale and comprehensive international guidelines for the diagnosis and treatment of iPPSDs.
Topics: Bone Diseases, Metabolic; Dysostoses; Europe; Humans; Intellectual Disability; Ossification, Heterotopic; Osteochondrodysplasias; Parathyroid Hormone; Parathyroid Hormone-Related Protein; Pseudohypoparathyroidism; Skin Diseases, Genetic
PubMed: 27401862
DOI: 10.1530/EJE-16-0107 -
European Journal of Human Genetics :... Jul 2022The existing knowledge about morbidity in adults with Rubinstein-Taybi syndrome (RTS) is limited and detailed data on their natural history and response to management...
The existing knowledge about morbidity in adults with Rubinstein-Taybi syndrome (RTS) is limited and detailed data on their natural history and response to management are needed for optimal care in later life. We formed an international, multidisciplinary working group that developed an accessible questionnaire including key issues about adults with RTS and disseminated this to all known RTS support groups via social media. We report the observations from a cohort of 87 adult individuals of whom 43 had a molecularly confirmed diagnosis. The adult natural history of RTS is defined by prevalent behavioural/psychiatric problems (83%), gastrointestinal problems (73%) that are represented mainly by constipation; and sleep problems (62%) that manifest in a consistent pattern of sleep apnoea, difficulty staying asleep and an increased need for sleep. Furthermore, over than half of the RTS individuals (65%) had skin and adnexa-related problems. Half of the individuals receive multidisciplinary follow-up and required surgery at least once, and most frequently more than once, during adulthood. Our data confirm that adults with RTS enjoy both social and occupational possibilities, show a variegated experience of everyday life but experience a significant morbidity and ongoing medical issues which do not appear to be as coordinated and multidisciplinary managed as in paediatric patients. We highlight the need for optimal care in a multidisciplinary setting including the pivotal role of specialists for adult care.
Topics: Adult; Child; Humans; Rubinstein-Taybi Syndrome; Surveys and Questionnaires
PubMed: 35388185
DOI: 10.1038/s41431-022-01097-8 -
Proceedings of the Royal Society of... Mar 1970
Topics: Adult; Humans; Klippel-Feil Syndrome; Laminectomy; Male; Neurologic Manifestations; Radiography
PubMed: 5445575
DOI: No ID Found -
The British Journal of Ophthalmology Mar 1953
Topics: Dysostoses; Facial Bones
PubMed: 13032374
DOI: 10.1136/bjo.37.3.171 -
Asian Journal of Surgery Jun 2022
Review
Topics: Craniofacial Dysostosis; Humans; Infant
PubMed: 35232642
DOI: 10.1016/j.asjsur.2022.02.015