Ontology highlight
ABSTRACT:
SUBMITTER: von Vopelius E
PROVIDER: S-EPMC8387270 | biostudies-literature | 2021 Sep
REPOSITORIES: biostudies-literature
von Vopelius E E Oheim R R Amling M M Rolvien T T Beil F T FT
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 20210319 9
Hajdu-Cheney syndrome (HCS) is a rare genetic connective tissue disorder caused by gain-of-function mutations in the NOTCH2 gene. We report a 38-year-old male HCS patient with a history of multiple pathologic fractures, poor bone stock under intermittent antiresorptive therapy, and secondary osteoarthritis (OA) of the knee, in which we successfully performed total knee arthroplasty (TKA). Next to a detailed skeletal assessment including laboratory bone metabolism markers, dual energy X-ray absor ...[more]