نتایج جستجو برای: jarcho
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VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L). Ver...
The congenital malformation known as an intraspinal bronchiogenic cyst is a rare form of endodermal (neurenteric, enterogenous) cyst lined with respiratory tract epithelium. We describe 3 new cases of intradural extramedullary bronchiogenic cyst in the Department of Neurosurgery between the years 2006 and 2014. Three patients were performed resection of intradural extramedullary bronchiogenic c...
With advances in spine surgery, congenital spine deformity can now be treated with corrective fusion and osteotomy, even in young children. In these patients, the spine has various complications of vertebral anomalies and congenital fusion. A successful and safe outcome of corrective surgery requires evaluation by imaging preoperatively. Congenital spinal anomaly has conventionally been evaluat...
s from the First Meeting of Argentine Biology Societies XVI Annual Scientific Meeting of Córdoba Biology Society (Sociedad de Biología de Córdoba) IX Meeting of Argentine Biology Society (Sociedad Argentina de Biología) XXV Annual Meeting of Cuyo Biology Society (Sociedad de Biología de Cuyo) With the participation of Rosario Biology Society (Sociedad de Biología de Rosario) Tucuman Biology Ass...
Cervical vertebral anomalies are often associated with malformations or traumas, they may be completely asymptomatic and represent an occasional finding in vertigo or can cause severe neurologic complications (ie, compression of the upper cervical spine with myelopathy, epilepsy, or respiratory failure). This clinical case is a patient who came to us for observation for a peripheral harmonic ve...
Patterns of vertebral variation across mammals have seldom been quantified, making it difficult to test hypotheses of covariation within the axial skeleton and mechanisms behind the high level of vertebral conservatism among mammals. We examined variation in vertebral counts within 42 species of mammals, representing monotremes, marsupials and major clades of placentals. These data show that xe...
Two siblings with spondylothoracic dysostosis, and two siblings and three unrelated children with spondylocostal dysostosis are described. Both conditions are inherited and characterised by malformed thoracic and lumbar vertebrae. Spondylothoracic dysostosis produces "crab-like" deformities of the ribs, and is usually fatal during early infancy due to respiratory failure. Spondylocostal dysosto...
Congenital scoliosis is a scoliosis that occurs as a result of bony abnormalities that arise between 4 to 16 weeks of gestation. There are genetic and environmental factors involved in etio logy. The majority of congenital vertebral anomalies are in the thoracic spine (64%). The patients often have associated skeletal anomalies and can also be part of a syndrome. Skeletal, cardiac, genitourina...
Proteins of the bone morphogenetic protein (BMP) family are known to have a role in ocular and skeletal development; however, because of their widespread expression and functional redundancy, less progress has been made identifying the roles of individual BMPs in human disease. We identified seven heterozygous mutations in growth differentiation factor 6 (GDF6), a member of the BMP family, in p...
Mutations in the DELTA-LIKE 3 (DLL3) gene cause the congenital abnormal vertebral segmentation syndrome, spondylocostal dysostosis (SCD). DLL3 is a divergent member of the DSL family of Notch ligands that does not activate signalling in adjacent cells, but instead inhibits signalling when expressed in the same cell as the Notch receptor. Targeted deletion of Dll3 in the mouse causes a developme...
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