Congenital heart disease in spondylothoracic dysostosis: two familial cases.
نویسندگان
چکیده
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.
منابع مشابه
Spondylocostal 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 کاملSpondylothoracic 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 کاملA child with Jarcho-levin syndrome
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...
متن کاملEpidemiologic Study of Congenital Heart Diseases and Its Related Factors in Children Referred to the Pediatric Cardiac Clinic of Birjand University of Medical Sciences, Iran
Background: Congenital heart disease is the most common type of maternal abnormality and is the leading cause of mortality in the first year of life. The aim of this study was to determine the epidemiological and related factors of congenital heart disease (CHD) in children referred to the pediatric heart clinic of Vali-e-Asr Hospital of Birjand, Iran. <e...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 32 8 شماره
صفحات -
تاریخ انتشار 1995