نتایج جستجو برای: premature craniosynostosis
تعداد نتایج: 62797 فیلتر نتایج به سال:
BACKGROUND Craniosynostosis, the premature fusion of one or more cranial sutures, occurs in ∼1 in 2250 births, either in isolation or as part of a syndrome. Mutations in at least 57 genes have been associated with craniosynostosis, but only a minority of these are included in routine laboratory genetic testing. METHODS We used exome or whole genome sequencing to seek a genetic cause in a coho...
A difficult extubation!
 An 8 y old male child suffered from Crouzon syndrome, in whom intubation was perceived to be difficult, but extubation expected much more difficult. syndrome is a genetic disorder characterized by the premature fusion of skull bones (craniosynostosis). This early prevents growing normally and affects shape head face.
Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated wit...
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations contributing to common non-syndromic midline (sagittal and metopic) craniosynostosis, we performed exome sequencing of 132 parent-offspring trios and 59 additional probands. Thirteen probands (7%) had damaging de...
Craniosynostosis is defined here as the premature closure of one or more of the skull vault sutures. While advances in molecular genetics have revolutionised our understanding of the various syndromes that may include craniosynostosis, and improved imaging techniques have provided new information about not only the calvarial sutures but also changes affecting the skull base and facial skeletons...
INSTRUCTION Craniosynostosis is a human disorder characterized by the premature fusing of the cranial sutures in infants. Point mutations in hotspot genes such as FGFRs are the well-recognized causes of syndromic craniosynostosis, but chromosomal abbreviations may also play an important role in developing this disease. Here, we report the case in China of a 2-year-boy dolichocephaly craniosynos...
Evolutionary history of Mammalia provides strong evidence that the morphology of skull and brain change jointly in evolution. Formation and development of brain and skull co-occur and are dependent upon a series of morphogenetic and patterning processes driven by genes and their regulatory programs. Our current concept of skull and brain as separate tissues results in distinct analyses of these...
Craniosynostosis, the premature closure of cranial suture, is a pathologic condition that affects 1/2000 live births. Saethre-Chotzen syndrome is a genetic condition characterized by craniosynostosis. The Saethre-Chotzen syndrome, which is defined by loss-of-function mutations in the TWIST gene, is the second most prevalent craniosynostosis. Although much of the genetics and phenotypes in crani...
Craniosynostosis is a heterogeneous condition caused by the premature fusion of cranial sutures, occurring mostly as an isolated anomaly. Pathogenesis of non-syndromic forms of craniosynostosis is largely unknown. In about 15-30% of cases craniosynostosis occurs in association with other physical anomalies and it is referred to as syndromic craniosynostosis. Syndromic forms of craniosynostosis ...
Abstract Craniosynostosis is a congenital disease characterized by the premature closure of one or multiple sutures infant’s skull. For diagnosis, 3D photogrammetric scans are radiation-free alternative to computed tomography. However, data only sparsely available and role augmentation for classification craniosynostosis has not yet been analyzed. In this work, we use 2D distance map representa...
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