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The Indian Journal of Medical Research Nov 2020
Topics: Humans; Rubinstein-Taybi Syndrome
PubMed: 35345227
DOI: 10.4103/ijmr.IJMR_2399_19 -
Developmental Dynamics : An Official... Sep 2020The spliceosome is a complex of RNA and proteins that function together to identify intron-exon junctions in precursor messenger-RNAs, splice out the introns, and join... (Review)
Review
The spliceosome is a complex of RNA and proteins that function together to identify intron-exon junctions in precursor messenger-RNAs, splice out the introns, and join the flanking exons. Mutations in any one of the genes encoding the proteins that make up the spliceosome may result in diseases known as spliceosomopathies. While the spliceosome is active in all cell types, with the majority of the proteins presumably expressed ubiquitously, spliceosomopathies tend to be tissue-specific as a result of germ line or somatic mutations, with phenotypes affecting primarily the retina in retinitis pigmentosa, hematopoietic lineages in myelodysplastic syndromes, or the craniofacial skeleton in mandibulofacial dysostosis. Here we describe the major spliceosomopathies, review the proposed mechanisms underlying retinitis pigmentosa and myelodysplastic syndromes, and discuss how this knowledge may inform our understanding of craniofacial spliceosomopathies.
Topics: Animals; Humans; Mandibulofacial Dysostosis; Mutation; Myelodysplastic Syndromes; Retinitis Pigmentosa; Spliceosomes
PubMed: 32506634
DOI: 10.1002/dvdy.214 -
Oral and Maxillofacial Surgery Clinics... Aug 2022Craniosynostosis, the premature fusion of the infant cranial skulls, can be recognized by characteristic head shape differences that worsen with head growth.... (Review)
Review
Craniosynostosis, the premature fusion of the infant cranial skulls, can be recognized by characteristic head shape differences that worsen with head growth. Craniosynostosis can be syndromic or nonsyndromic and can involve one suture or multiple sutures. Timely cranial vault surgery is recommended to expand and reshape the skull, with a goal of preventing increased intracranial pressure and providing sufficient space for brain growth. Several gene variants and environmental exposures are known to increase the risk of single suture craniosynostosis (SSC), including in utero constraint, exposure to specific toxins and medications, and medical conditions such as thyroid dysregulation and metabolic bone disorders.
Topics: Craniosynostoses; Humans; Infant; Skull
PubMed: 35787827
DOI: 10.1016/j.coms.2022.02.001 -
Neuro-Chirurgie Nov 2019In published series, a large proportion of patients with craniosynostosis show impaired vision. (Review)
Review
INTRODUCTION
In published series, a large proportion of patients with craniosynostosis show impaired vision.
MATERIALS AND METHODS
A literature review was performed, using the PubMed and Google Scholar databases, to identify original and review articles on the consequences of craniosynostosis on the eyes and visual pathways, and on the ophthalmological management of craniosynostosis.
RESULTS AND DISCUSSION
Many ophthalmic, potentially sight-threatening, complications, can occur in patients with craniosynostosis, especially when syndromic. Optic neuropathy, mostly resulting from the papilledema-optic atrophy sequence, secondary to raised intracranial pressure (ICP), should be diagnosed early, in order to promptly lower the ICP. Cyclovertical and horizontal strabismus and refractive errors are frequent in unicoronal synostosis (anterior plagiocephaly) and syndromic craniosynostosis. Exorbitism, encountered in some cases of syndromic craniofacial synostosis, leads to exposure keratopathy, which requires aggressive management to avoid severe irremediable corneal complications. Amblyopia can result from optic neuropathy, corneal opacities, strabismus, or refractive errors. If undiagnosed and untreated at a young age, it results in permanent visual impairment.
CONCLUSION
Children with craniosynostosis require a multidisciplinary care network including a pediatric ophthalmologist. Systematic ophthalmological follow-up enables papilledema to be diagnosed and amblyopia to be diagnosed and treated, in order to avoid visual impairment.
Topics: Adolescent; Child; Child, Preschool; Craniosynostoses; Eye Diseases, Hereditary; Humans; Infant; Vision Disorders; Visual Pathways
PubMed: 31574284
DOI: 10.1016/j.neuchi.2019.09.016 -
Child's Nervous System : ChNS :... Nov 2019Currently, the interest on craniosynostosis in the clinical practice is raised by their increased frequency and their genetic implications other than by the still... (Review)
Review
PURPOSE
Currently, the interest on craniosynostosis in the clinical practice is raised by their increased frequency and their genetic implications other than by the still existing search of less invasive surgical techniques. These reasons, together with the problem of legal issues, make the need of a definite diagnosis for a crucial problem, even in single-suture craniosynostosis (SSC). Although the diagnosis of craniosynostosis is primarily the result of physical examination, craniometrics measuring, and observation of the skull deformity, the radiological assessment currently plays an important role in the confirmation of the diagnosis, the surgical planning, and even the postoperative follow-up. On the other hand, in infants, the use of radiation or the need of sedation/anesthesia raises the problem to reduce them to minimum to preserve such a delicate category of patient from their adverse effects.
METHODS, RESULTS AND CONCLUSIONS
This review aims at summarizing the state of the art of the role of radiology in craniosynostosis, mainly focusing on indications and techniques, to provide an update not only to pediatric neurosurgeons or maxillofacial surgeons but also to all the other specialists involved in their management, like neonatologists, pediatricians, clinical geneticists, and pediatric neurologists.
Topics: Cephalometry; Craniosynostoses; Humans; Imaging, Three-Dimensional; Infant; Nervous System Malformations; Neurosurgical Procedures; Radiography; Plastic Surgery Procedures; Tomography, X-Ray Computed
PubMed: 31289853
DOI: 10.1007/s00381-019-04278-x -
Neuro-Chirurgie Nov 2019Various animal models mimicking craniosynostosis have been developed, using mutant zebrafish and mouse. The aim of this paper is to review the different animal models... (Review)
Review
BACKGROUND
Various animal models mimicking craniosynostosis have been developed, using mutant zebrafish and mouse. The aim of this paper is to review the different animal models for syndromic craniosynostosis and analyze what insights they have provided in our understanding of the pathophysiology of these conditions.
MATERIAL AND METHODS
The relevant literature for animal models of craniosynostosis was reviewed.
RESULTS
Although few studies on craniosynostosis using zebrafish were published, this model appears useful in studying the suture formation mechanisms conserved across vertebrates. Conversely, several mouse models have been generated for the most common syndromic craniosynostoses, associated with mutations in FGFR1, FGFR2, FGFR3 and TWIST genes and also in MSX2, EFFNA, GLI3, FREM1, FGF3/4 genes. The mouse models have also been used to test pharmacological treatments to restore craniofacial growth.
CONCLUSIONS
Several zebrafish and mouse models have been developed in recent decades. These animal models have been helpful for our understanding of normal and pathological craniofacial growth. Mouse models mimicking craniosynostoses can be easily used for the screening of drugs as therapeutic candidates.
Topics: Animals; Craniosynostoses; Disease Models, Animal; Humans; Mutation
PubMed: 31563616
DOI: 10.1016/j.neuchi.2019.09.010 -
The Journal of Pediatrics Oct 2019
Topics: Cranial Sutures; Craniosynostoses; Craniotomy; Female; Humans; Infant; Plagiocephaly; Skull; Strabismus
PubMed: 31255389
DOI: 10.1016/j.jpeds.2019.05.043 -
Facial Plastic Surgery Clinics of North... Feb 2024We describe the investigation and management of select pediatric craniofacial disorders their recent advances. Positional plagiocephaly: The incidence of positional... (Review)
Review
We describe the investigation and management of select pediatric craniofacial disorders their recent advances. Positional plagiocephaly: The incidence of positional plagiocephaly has increased since the institution of the "safe to sleep" campaign to reduce sudden infant death syndrome. Positional plagiocephaly may be associated with underlying developmental delay. Nonsyndromic craniosynostosis: Treatment of nonsyndromic craniosynostosis depends on the age of the patient and the suture involved. Pediatric skull lesions: Management of skull lesions depends on histologic diagnosis. Some benign skull lesions are managed conservatively, whereas erosive and malignant lesions may require surgical excision, radiotherapy, chemotherapy, or multimodality treatment.
Topics: Infant; Humans; Child; Plagiocephaly, Nonsynostotic; Skull; Combined Modality Therapy; Craniosynostoses; Neurosurgical Procedures
PubMed: 37981408
DOI: 10.1016/j.fsc.2023.06.004 -
Indian Journal of Ophthalmology Jul 2022The current literature review aims to evaluate the ocular findings and associated ophthalmic features in Crouzon syndrome. Craniosynostoses are syndromes characterized... (Review)
Review
The current literature review aims to evaluate the ocular findings and associated ophthalmic features in Crouzon syndrome. Craniosynostoses are syndromes characterized by premature fusion of sutures of the skull and Crouzon syndrome is the most common of the craniosynostosis syndromes. Early fusion of sutures results in craniofacial anomalies, including abnormalities of the orbits. To prepare this review of the ophthalmic findings in this disorder, an organized search on online databases such as PubMed, Scopus, Cochrane Library, and Ovid was carried out. The key terms searched were "Crouzon", "craniosynostosis", "eye" and "ophthalmic", and 51 research items were found. A total of 17 articles were included after scrutiny of the databases and a further 25 articles were added after augmented search. A detailed review was performed from the final 42 articles. A comprehensive description of associated anomalies is given along with the author's own technique of surgical management in cases with Crouzon syndrome having bilateral luxation bulbi with exposure keratopathy. However, for optimum management of cranial and oculo-facial dysmorphisms, a multidisciplinary team of specialists is required.
Topics: Craniofacial Dysostosis; Craniosynostoses; Eye; Face; Humans; Syndrome
PubMed: 35791116
DOI: 10.4103/ijo.IJO_3207_21 -
Child's Nervous System : ChNS :... Aug 2021The goal of this study was to review the current application and status of three-dimensional printing for craniosynostosis surgery. (Review)
Review
OVERVIEW
The goal of this study was to review the current application and status of three-dimensional printing for craniosynostosis surgery.
METHODS
A literature review was performed using the PubMed/MEDLINE databases for studies published between 2010 and 2020. All studies demonstrating the utilization of three-dimensional printing for craniosynostosis surgery were included.
RESULTS
A total of 15 studies were ultimately selected. This includes studies demonstrating novel three-dimensional simulation and printing workflows, studies utilizing three-dimensional printing for surgical simulation, as well as case reports describing prior experiences.
CONCLUSION
The incorporation of three-dimensional printing into the domain of craniosynostosis surgery has many potential benefits. This includes streamlining surgical planning, developing patient-specific template guides, enhancing residency training, as well as aiding in patient counseling. However, the current state of the literature remains in the validation stage. Further study with larger case series, direct comparisons with control groups, and prolonged follow-up times is necessary before more widespread implementation is justified.
Topics: Craniosynostoses; Humans; Printing, Three-Dimensional; Surgery, Computer-Assisted
PubMed: 33779807
DOI: 10.1007/s00381-021-05133-8