{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T05:30:14Z","timestamp":1777613414177,"version":"3.51.4"},"reference-count":70,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2022,2,23]],"date-time":"2022-02-23T00:00:00Z","timestamp":1645574400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>This paper describes the case of a 54-year-old woman diagnosed with Hajdu\u2013Cheney syndrome, who presents with characteristic craniofacial dysmorphia, short stature, premature loss of teeth, developmental skeletal disorders, fibrocystic mastopathy, bilateral hearing loss and an intermittent mild neutropenia. The patient received treatment with bisphosphonates and was awaiting evaluation for surgical arthroplasty of both hips when she suffered a motor vehicle accident, which led to a rapid progression in her disease by increasing her degree of dependence for most activities of daily living. The clinical presentation and radiologic findings seen in this case confirm the three main features of the syndrome: phenotypic variability, an age-dependent progression and the presence of generalized osteoporosis and acroosteolysis of distal phalanges. The main objective of the manuscript is to describe a new case of a patient diagnosed with Hajdu\u2013Cheney syndrome. Due to the low prevalence of the syndrome and the small number of cases reported in the scientific literature, obtaining a complete description and a global perspective of the disease is complex.<\/jats:p>","DOI":"10.3390\/diagnostics12030566","type":"journal-article","created":{"date-parts":[[2022,2,23]],"date-time":"2022-02-23T09:34:38Z","timestamp":1645608878000},"page":"566","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Hajdu-Cheney Syndrome: Report of a Case in Spain"],"prefix":"10.3390","volume":"12","author":[{"given":"Jonathan","family":"Cort\u00e9s-Mart\u00edn","sequence":"first","affiliation":[{"name":"Andalusia Research Plan, Junta de Andaluc\u00eda, Research Group CTS1068, School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"},{"name":"School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4650-2159","authenticated-orcid":false,"given":"Juan Carlos","family":"S\u00e1nchez-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Andalusia Research Plan, Junta de Andaluc\u00eda, Research Group CTS1068, School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"},{"name":"School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz","family":"Piqueras-Sola","sequence":"additional","affiliation":[{"name":"Andalusia Research Plan, Junta de Andaluc\u00eda, Research Group CTS1068, School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"},{"name":"Hospital University Virgen de las Nieves, 18014 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2086-1222","authenticated-orcid":false,"given":"Raquel","family":"Rodr\u00edguez-Blanque","sequence":"additional","affiliation":[{"name":"Andalusia Research Plan, Junta de Andaluc\u00eda, Research Group CTS1068, School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"},{"name":"School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6420-9757","authenticated-orcid":false,"given":"Mar\u00eda Isabel","family":"Tovar-G\u00e1lvez","sequence":"additional","affiliation":[{"name":"Andalusia Research Plan, Junta de Andaluc\u00eda, Research Group CTS1068, School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"},{"name":"School of Nursing, Faculty of Health Sciences, University of Granada, Ceuta Campus, 51001 Ceuta, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7906-5656","authenticated-orcid":false,"given":"Lourdes","family":"D\u00edaz-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Andalusia Research Plan, Junta de Andaluc\u00eda, Research Group CTS1068, School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"},{"name":"School of Nursing, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/ajmg.a.20181","article-title":"Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: A new syndrome?","volume":"121A","author":"Singh","year":"2003","journal-title":"Am. 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