{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T01:25:11Z","timestamp":1773278711750,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T00:00:00Z","timestamp":1625011200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T00:00:00Z","timestamp":1625011200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Singleton\u2010Merten syndrome (SMS) is a type I interferonopathy. In this report, we disclose the first\u2014to the best of our knowledge\u2014direct association of SMS with femoral head necrosis (FHN). The following case report presents the condition of a 38\u2010year\u2010old male suffering from SMS with FHN, characterized by acute symptoms and rapid disease progression. As per the recommendations of the Association Research Circulation Osseous (ARCO) and the S3\u2010guidelines, we successfully treated the FHN with core decompression. Our histological results correlate with the changes described in medical literature in patients with SMS and MDA5\u2010knockout in vivo experiments such as osteopenia, widened medullary cavity, and thin cortical bone. Moreover, the conducted immunohistochemistry shows strong CD56 positivity of the osteoblasts and osteocytes, as well as significant CD68 and CD163 positivity of the middle\u2010sized osteoclasts. Collectively, these findings suggest an underlying syndrome in the FHN. A six\u2010month post\u2010operative follow\u2010up revealed complete recovery with the absence of the initial symptoms and ability to resume normal daily activities. Taken together, our findings suggest that SMS is an additional cause of FHN in young adults. Early detection and adequate treatment using well\u2010established joint\u2010preserving techniques demonstrate a favorable improvement of the patient's clinical condition.<\/jats:p>","DOI":"10.1002\/ajmg.a.62395","type":"journal-article","created":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T23:11:26Z","timestamp":1625094686000},"page":"3170-3175","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp>Singleton\u2010Merten<\/scp>\n                    syndrome: A rare cause of femoral head necrosis"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3105-0356","authenticated-orcid":false,"given":"Elio","family":"Assaf","sequence":"first","affiliation":[{"name":"Department of Orthopedics and Trauma Surgery University Medical Centre, Medical Faculty Mannheim of the University of Heidelberg  Mannheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamad","family":"Bdeir","sequence":"additional","affiliation":[{"name":"Department of Orthopedics and Trauma Surgery University Medical Centre, Medical Faculty Mannheim of the University of Heidelberg  Mannheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Mohs","sequence":"additional","affiliation":[{"name":"Department of Orthopedics and Trauma Surgery University Medical Centre, Medical Faculty Mannheim of the University of Heidelberg  Mannheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franz\u2010Joseph","family":"Dally","sequence":"additional","affiliation":[{"name":"Department of Orthopedics and Trauma Surgery University Medical Centre, Medical Faculty Mannheim of the University of Heidelberg  Mannheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sascha","family":"Gravius","sequence":"additional","affiliation":[{"name":"Department of Orthopedics and Trauma Surgery University Medical Centre, Medical Faculty Mannheim of the University of Heidelberg  Mannheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cleo\u2010Aron","family":"Weis","sequence":"additional","affiliation":[{"name":"Institute of Pathology University Medical Centre, Medical Faculty Mannheim of the University of Heidelberg  Mannheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Darwich","sequence":"additional","affiliation":[{"name":"Department of Orthopedics and Trauma Surgery University Medical Centre, Medical Faculty Mannheim of the University of Heidelberg  Mannheim Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,6,30]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0035-1545901"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14073"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.08.007"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35732"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.11.019"},{"issue":"3","key":"e_1_2_12_7_1","first-page":"819","article-title":"Immunohistochemical analysis of bone metabolism in osteonecrosis of the femoral head","volume":"59","author":"Kamal K. 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