Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity
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چکیده
منابع مشابه
Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity.
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...
متن کاملJarcho-Levin syndrome.
literature(2,3). Recently, this syndrome has been divided into two major subtypes: spondylothoracic dysostosis and spondylocostal dysostosis(3,4). We describe two cases of the JarchoLevin syndrome, one of each subtype (spondylothoracic dysostosis and spondylocostal dysostosis). The cases illustrate the typical findings of the syndrome and highlight the differences between the two subtypes of th...
متن کاملMutated MESP2 causes spondylocostal dysostosis in humans.
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...
متن کاملSpondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report.
Jarcho Levin syndrome is a rare genetic disorder characterized by multipl vertebral and costal anomalies at birth. Jarcho Levin syndrome includes two phenotypic groups: spondylothoracic dysostosis and spondylocostal dysostosis. The prognosis of spondylothoracic dysostosis has worse than spondylocostal dysostosis, because of respiratory complications. Associated malformations include those of th...
متن کاملCongenital heart disease in spondylothoracic dysostosis: two familial cases.
Two familial cases of spondylothoracic dysostosis are reported. Both cases had severe congenital heart disease in addition to the skeletal malformations which are characteristic of the condition.
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ژورنال
عنوان ژورنال: The Journal of Bone and Joint Surgery. British volume
سال: 1988
ISSN: 0301-620X,2044-5377
DOI: 10.1302/0301-620x.70b1.3339042