Mathias Aeby, Tobias Wyss, Birgit Mentrup, Erdmute Kunstmann, Franz Jakob, Daniel Aeberli
{"title":"低能量创伤引发的股骨髁间骨折。","authors":"Mathias Aeby, Tobias Wyss, Birgit Mentrup, Erdmute Kunstmann, Franz Jakob, Daniel Aeberli","doi":"10.11138/ccmbm/2016.13.2.151","DOIUrl":null,"url":null,"abstract":"<p><p>We present a 44-year-old female patient with recurrent fragility fractures including an intercondylar femoral fracture and with normal planar bone densitometry. Diagnosis of hypophosphatasia was suggested by low volumetric cortical bone mineral density and laboratory findings. DNA sequencing revealed heterozygous mutations in the exons 5, 6 and 9 of the ALPL gene, thus confirming the suspected diagnosis.</p>","PeriodicalId":79466,"journal":{"name":"The Journal of the American Association of Gynecologic Laparoscopists","volume":"8 3 1","pages":"151-153"},"PeriodicalIF":0.0000,"publicationDate":"2016-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5119715/pdf/","citationCount":"0","resultStr":"{\"title\":\"Low-energy trauma-induced intercondylar femoral fracture.\",\"authors\":\"Mathias Aeby, Tobias Wyss, Birgit Mentrup, Erdmute Kunstmann, Franz Jakob, Daniel Aeberli\",\"doi\":\"10.11138/ccmbm/2016.13.2.151\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>We present a 44-year-old female patient with recurrent fragility fractures including an intercondylar femoral fracture and with normal planar bone densitometry. Diagnosis of hypophosphatasia was suggested by low volumetric cortical bone mineral density and laboratory findings. DNA sequencing revealed heterozygous mutations in the exons 5, 6 and 9 of the ALPL gene, thus confirming the suspected diagnosis.</p>\",\"PeriodicalId\":79466,\"journal\":{\"name\":\"The Journal of the American Association of Gynecologic Laparoscopists\",\"volume\":\"8 3 1\",\"pages\":\"151-153\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2016-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5119715/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Journal of the American Association of Gynecologic Laparoscopists\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.11138/ccmbm/2016.13.2.151\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2016/10/5 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Journal of the American Association of Gynecologic Laparoscopists","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.11138/ccmbm/2016.13.2.151","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2016/10/5 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
We present a 44-year-old female patient with recurrent fragility fractures including an intercondylar femoral fracture and with normal planar bone densitometry. Diagnosis of hypophosphatasia was suggested by low volumetric cortical bone mineral density and laboratory findings. DNA sequencing revealed heterozygous mutations in the exons 5, 6 and 9 of the ALPL gene, thus confirming the suspected diagnosis.
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