نتایج جستجو برای: spondylocostal dysplasia
تعداد نتایج: 28681 فیلتر نتایج به سال:
Spondylocostal dysostosis (SCD) is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation (AVS). We have previously identified mutations in the Delta-like 3 (DLL3) gene as a major cause of autosomal recessive spondylocostal dysostosis. DLL3 encodes a ligand for the Notch receptor and, when mutated, defective somitogenesis occurs resulting in a consis...
Jarcho-Levin syndrome a very rare anomaly is described for a variety of clinical phenotypes consisting of short-trunk dwarfism associated with rib and vertebral anomalies. The patient is two months old infant with spondylocostal dysostosis and bilateral direct recurrent inguinal hernia. He was successfully operated by a new method and after 36 months follow up he did not have any problem.
The Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in organisms as diverse as insects, nematodes, echinoderms and mammals. Disruptions in conserved developmental pathways frequently result in inherited congenital anomalies in humans. Mutations in genes encoding Notch pathway components underlie three inherited...
In 1938, Jarcho and Levin1 first described a syndrome of congenital abnormalities affecting the spine and the thorax. The syndrome described a spectrum of radiological and skeletal anomalies including abnormal vertebral segmentation or formation defects, rib deformities and short trunk dwarfism. In 1978, Solomon et al2 subdivided patients with the above features into 2 distinct phenotypes: spon...
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