{"title":"峡部枢椎关节闭锁综合征。一个罕见的矮小和先天性脊柱侧凸的病例。","authors":"Swayamsidha Mangaraj, Arun Kumar Choudhury, Mamata Singh, Debasish Patro, Anoj Kumar Baliarsinha","doi":"10.11138/ccmbm/2017.14.2.258","DOIUrl":null,"url":null,"abstract":"<p><p>Spondylocarpotarsal synostosis is a very rare skeletal disorder characterized by vertebral malsegmentation defects. Apart from severe vertebral defects, the disease is associated with carpal and tarsal synostosis which is quite characteristic for the disease. We report a case of young child who presented with short stature and congenital scoliosis. The radiological and clinical findings were compatible with the above diagnosis. Apart from the classical findings, the patient had evidence of odontoid aplasia which has not earlier been described in association with this disorder. We report this case for rarity of this disorder and the associated novel finding.</p>","PeriodicalId":47230,"journal":{"name":"Clinical Cases in Mineral and Bone Metabolism","volume":"14 2","pages":"258-261"},"PeriodicalIF":0.0000,"publicationDate":"2017-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726223/pdf/258-261.pdf","citationCount":"3","resultStr":"{\"title\":\"Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis.\",\"authors\":\"Swayamsidha Mangaraj, Arun Kumar Choudhury, Mamata Singh, Debasish Patro, Anoj Kumar Baliarsinha\",\"doi\":\"10.11138/ccmbm/2017.14.2.258\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Spondylocarpotarsal synostosis is a very rare skeletal disorder characterized by vertebral malsegmentation defects. Apart from severe vertebral defects, the disease is associated with carpal and tarsal synostosis which is quite characteristic for the disease. We report a case of young child who presented with short stature and congenital scoliosis. The radiological and clinical findings were compatible with the above diagnosis. Apart from the classical findings, the patient had evidence of odontoid aplasia which has not earlier been described in association with this disorder. We report this case for rarity of this disorder and the associated novel finding.</p>\",\"PeriodicalId\":47230,\"journal\":{\"name\":\"Clinical Cases in Mineral and Bone Metabolism\",\"volume\":\"14 2\",\"pages\":\"258-261\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726223/pdf/258-261.pdf\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Cases in Mineral and Bone Metabolism\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.11138/ccmbm/2017.14.2.258\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2017/10/25 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Cases in Mineral and Bone Metabolism","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.11138/ccmbm/2017.14.2.258","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2017/10/25 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis.
Spondylocarpotarsal synostosis is a very rare skeletal disorder characterized by vertebral malsegmentation defects. Apart from severe vertebral defects, the disease is associated with carpal and tarsal synostosis which is quite characteristic for the disease. We report a case of young child who presented with short stature and congenital scoliosis. The radiological and clinical findings were compatible with the above diagnosis. Apart from the classical findings, the patient had evidence of odontoid aplasia which has not earlier been described in association with this disorder. We report this case for rarity of this disorder and the associated novel finding.
期刊介绍:
The Journal encourages the submission of case reports and clinical vignettes that provide new and exciting insights into the pathophysiology and characteristics of disorders related to skeletal function and mineral metabolism and/or highlight pratical diagnostic and /or therapeutic considerations.