{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T14:47:44Z","timestamp":1781016464816,"version":"3.54.1"},"reference-count":12,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,1,5]]},"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>Proximal focal femoral deficiency (PFFD) is a rare congenital skeletal abnormality characterised by the partial absence of the proximal femoral segment with shortening of the entire lower extremity. It typically presents as a shortened thigh, which is flexed, externally rotated and abducted. Some other skeletal anomalies, especially fibular hemimelia, usually accompany the disorder. The diagnosis of PFFD is made in early childhood and based mainly on conventional radiography. However, the radiographic appearance of the disease evolves as the child grows. In addition, treatment procedures applied to the child affect the radiographic presentation of the disease in adulthood. Almost all cases of PFFD reported to date are in young children and in the current literature, there is a paucity of radiographic images of PFFD in mature skeleton. The aim of this case report is to present the radiographic appearance of PFFD in an adult patient and to increase awareness among radiologists about this disease.<\/jats:p>","DOI":"10.1136\/bcr-2019-232714","type":"journal-article","created":{"date-parts":[[2020,1,22]],"date-time":"2020-01-22T05:14:26Z","timestamp":1579670066000},"page":"e232714","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Isolated unilateral proximal focal femoral deficiency presenting in a young woman"],"prefix":"10.1136","volume":"13","author":[{"given":"Meltem","family":"\u00d6zdemir","sequence":"first","affiliation":[{"name":"Radiology, University of Health Sciences D\u0131\u015fkap\u0131 Y\u0131ld\u0131r\u0131m Beyaz\u0131t Training and Research Hospital, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasime Pelin","family":"Kavak","sequence":"additional","affiliation":[{"name":"Radiology, University of Health Sciences D\u0131\u015fkap\u0131 Y\u0131ld\u0131r\u0131m Beyaz\u0131t Training and Research Hospital, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arda Halil","family":"Ceylan","sequence":"additional","affiliation":[{"name":"Radiology, University of Health Sciences D\u0131\u015fkap\u0131 Y\u0131ld\u0131r\u0131m Beyaz\u0131t Training and Research Hospital, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeycan K\u00fcbra","family":"Cevval","sequence":"additional","affiliation":[{"name":"Radiology, University of Health Sciences D\u0131\u015fkap\u0131 Y\u0131ld\u0131r\u0131m Beyaz\u0131t Training and Research Hospital, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2020,1,21]]},"reference":[{"key":"2025082709093642000_13.1.e232714.1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.22306"},{"key":"2025082709093642000_13.1.e232714.2","article-title":"Unilateral isolated proximal femoral focal deficiency","volume":"2013","author":"Do\u011fer","year":"2013","journal-title":"Case Rep Obstet Gynecol"},{"key":"2025082709093642000_13.1.e232714.3","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1159\/000020839","article-title":"A case of congenital familial short femur diagnosed prenatally","volume":"13","author":"Makino","year":"1998","journal-title":"Fetal Diagn Ther"},{"key":"2025082709093642000_13.1.e232714.4","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.1996.08020127.x"},{"key":"2025082709093642000_13.1.e232714.5","unstructured":"Aitken GT: Proximal femoral focal deficiency: definition, classification, and management . Paper presented at a symposium on proximal femoral focal deficiency, Washington, D.C., June 1968, Washington, D.C., National Academy of sciences, 1969."},{"key":"2025082709093642000_13.1.e232714.6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.2106\/00004623-196244010-00001","article-title":"Dysgenesis of the proximal femur (coxa vara) and its surgical management","volume":"44-A","author":"Amstutz","year":"1962","journal-title":"J Bone Joint Surg Am"},{"key":"2025082709093642000_13.1.e232714.7","doi-asserted-by":"crossref","first-page":"151","DOI":"10.4103\/0975-3605.203706","article-title":"Proximal focal femoral deficiency: a case report","volume":"17","author":"Sharma","year":"2015","journal-title":"J Mar Med Soc"},{"key":"2025082709093642000_13.1.e232714.8","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1177\/112070000901906s05","article-title":"Proximal focal femoral deficiency (PFFD): management options and controversies","volume":"19","author":"Westberry","year":"2009","journal-title":"Hip Int"},{"key":"2025082709093642000_13.1.e232714.9","unstructured":"Paley D . Lengthening reconstruction surgery for congenital femoral deficiency. In: Herring JA , Birch J , eds. The child with a limb deficiency. 113. Rosemont, Ill: AAOS, 1998."},{"key":"2025082709093642000_13.1.e232714.10","first-page":"325","article-title":"Value of magnetic resonance imaging in early assessment of proximal femoral focal deficiency (PFFD)","volume":"89","author":"Bernaerts","year":"2006","journal-title":"JBR-BTR"},{"key":"2025082709093642000_13.1.e232714.11","doi-asserted-by":"publisher","DOI":"10.1007\/s00256-006-0218-x"},{"key":"2025082709093642000_13.1.e232714.12","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1097\/BPB.0000000000000515","article-title":"Outcomes and subjective assessment of rotation-plasty in patients with proximal femoral focal deficiency","volume":"27","author":"Kowalczyk","year":"2018","journal-title":"J Pediatr Orthop B"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2019-232714","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:09:43Z","timestamp":1756310983000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2019-232714"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,1,21]]},"published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1136\/bcr-2019-232714"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2019-232714","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1]]}}}