{"title":"胫骨/股骨发育不全伴“钩形”骨盆:一种潜在的独特骨不全。","authors":"André Mégarbané, Ismat Ghanem","doi":"10.1002/ajmg.10684","DOIUrl":null,"url":null,"abstract":"<p><p>We report a 2-year-5-month-old girl with malformed lower limbs. The radiographic skeletal survey revealed agenesis of the ilio-pubic rami with pubic dehiscence, right hip dislocation, bilateral coxa vara, short femurs, femoro-tibial synchondrosis, bilateral hypoplastic tibiae more severe on the left side, and hypoplastic left calcaneus and talus. To the best of our knowledge, this combination of multiple congenital skeletal abnormalities has not been reported before.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"112 4","pages":"394-6"},"PeriodicalIF":0.0000,"publicationDate":"2002-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.10684","citationCount":"4","resultStr":"{\"title\":\"Tibial/femoral hypoplasia with \\\"hook\\\" pelvis: a potentially unique dysostosis.\",\"authors\":\"André Mégarbané, Ismat Ghanem\",\"doi\":\"10.1002/ajmg.10684\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>We report a 2-year-5-month-old girl with malformed lower limbs. The radiographic skeletal survey revealed agenesis of the ilio-pubic rami with pubic dehiscence, right hip dislocation, bilateral coxa vara, short femurs, femoro-tibial synchondrosis, bilateral hypoplastic tibiae more severe on the left side, and hypoplastic left calcaneus and talus. To the best of our knowledge, this combination of multiple congenital skeletal abnormalities has not been reported before.</p>\",\"PeriodicalId\":7708,\"journal\":{\"name\":\"American Journal of Medical Genetics\",\"volume\":\"112 4\",\"pages\":\"394-6\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2002-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1002/ajmg.10684\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"American Journal of Medical Genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1002/ajmg.10684\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1002/ajmg.10684","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Tibial/femoral hypoplasia with "hook" pelvis: a potentially unique dysostosis.
We report a 2-year-5-month-old girl with malformed lower limbs. The radiographic skeletal survey revealed agenesis of the ilio-pubic rami with pubic dehiscence, right hip dislocation, bilateral coxa vara, short femurs, femoro-tibial synchondrosis, bilateral hypoplastic tibiae more severe on the left side, and hypoplastic left calcaneus and talus. To the best of our knowledge, this combination of multiple congenital skeletal abnormalities has not been reported before.
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