نتایج جستجو برای: jarcho levin
تعداد نتایج: 2796 فیلتر نتایج به سال:
The oculo-auriculo-vertebral spectrum (OAVS) (OMIM % 164210) is a common developmental disorder characterized by hemifacial microsomia, epibulbar tumours, ear malformation and vertebral anomalies. Although rare familial cases suggest that OAVS has a genetic basis, no genetic defect has been identified so far. In a patient with OAVS and a chromosomal translocation t(4;8) we have found that the c...
The diagnosis of idiopathic scoliosis is made after other known causes of the deformity have been excluded. This paper does not deal with scoliosis resulting from vertebral anomalies, nor with that associated with conditions of known genetic etiology, such as neurofibromatosis, Marfan’s syndrome or muscular dystrophy. Also, the diagnosis of idiopathic scoliosis is only made when the curve is st...
Introdução: A síndrome de Kleine-Levin (SKL) é uma condição neurológica rara que afeta principalmente adolescentes e jovens adultos. Caracteriza-se por episódios sono excessivamente prolongados, alterações comportamentais aumento do apetite. causa exata dessa ainda desconhecida, o diagnóstico baseado na observação dos sintomas clínicos característicos. Métodos: Pesquisadores conduziram revisões...
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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