{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T08:56:37Z","timestamp":1777366597410,"version":"3.51.4"},"reference-count":24,"publisher":"The Endocrine Society","issue":"5","license":[{"start":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T00:00:00Z","timestamp":1777334400000},"content-version":"vor","delay-in-days":7,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9lius Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015736","name":"Folkh\u00e4lsan Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015736","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005744","name":"Foundation for Pediatric Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005744","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010135","name":"Finska L\u00e4kares\u00e4llskapet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010135","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010116","name":"Medicinska Underst\u00f6dsf\u00f6reningen Liv och H\u00e4lsa","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010116","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010119","name":"Stiftelsen Dorothea Olivia, Karl Walter och Jarl Walter Perkle\u0301ns Minne","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010119","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Short stature is the most common reason for endocrinological investigations during childhood. With the expanding spectrum of recognized genetic causes for abnormal growth, establishing the correct diagnosis is often challenging. We present a 12-year-old girl who was first evaluated for short stature (&amp;lt;3rd percentile) and short fingers at age 2 years. Skeletal radiographs showed mild long bone metaphyseal abnormalities. She had slightly thin hair, unilateral elbow dislocations, and genu varum but no hematologic abnormalities or signs of immunodeficiency. Growth hormone testing and other endocrine investigations were normal. At age 12 years, when her height was \u22123.0 SD score, skeletal dysplasia was considered, and genetic testing revealed compound heterozygosity for 2 RMRP variants (n.97_98dup and n.-25_-12dup), confirming the diagnosis of cartilage-hair hypoplasia (CHH), a recessive skeletal dysplasia. Retrospective review of early radiographs showed that diagnostic features were present already at the first assessment. The described patient is the first reported case of CHH in Greece. The delayed diagnosis led to several unnecessary investigations. This case highlights the importance of considering skeletal dysplasia in children with short stature. Early diagnosis of CHH is important for careful follow-up because of increased risk for immunodeficiency and malignancies.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag102","type":"journal-article","created":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T12:43:38Z","timestamp":1774529018000},"source":"Crossref","is-referenced-by-count":0,"title":["Delayed diagnosis of skeletal dysplasia in a girl with cartilage-hair hypoplasia"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2708-0878","authenticated-orcid":false,"given":"Petra","family":"Loid","sequence":"first","affiliation":[{"name":"Children's Hospital, University of Helsinki and Helsinki University Hospital , Helsinki 00290 ,","place":["Finland"]},{"name":"Research Program for Clinical and Molecular Metabolism, University of Helsinki , Helsinki 00014 ,","place":["Finland"]},{"name":"Folkh\u00e4lsan Research Center, Genetics Research Program , Helsinki 00290 ,","place":["Finland"]},{"name":"Department of Molecular Medicine and Surgery, Karolinska Institutet , Stockholm 17176 ,","place":["Sweden"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleni P","family":"Kotanidou","sequence":"additional","affiliation":[{"name":"2nd Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University General Hospital , Thessaloniki 54636 ,","place":["Greece"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vasiliki Rengina","family":"Tsinopoulou","sequence":"additional","affiliation":[{"name":"2nd Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University General Hospital , Thessaloniki 54636 ,","place":["Greece"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Assimina","family":"Galli-Tsinopoulou","sequence":"additional","affiliation":[{"name":"2nd Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University General Hospital , Thessaloniki 54636 ,","place":["Greece"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4547-001X","authenticated-orcid":false,"given":"Outi","family":"M\u00e4kitie","sequence":"additional","affiliation":[{"name":"Children's Hospital, University of Helsinki and Helsinki University Hospital , Helsinki 00290 ,","place":["Finland"]},{"name":"Research Program for Clinical and Molecular Metabolism, University of Helsinki , Helsinki 00014 ,","place":["Finland"]},{"name":"Folkh\u00e4lsan Research Center, Genetics Research Program , Helsinki 00290 ,","place":["Finland"]},{"name":"Department of Molecular Medicine and Surgery, Karolinska Institutet , Stockholm 17176 ,","place":["Sweden"]},{"name":"Clinical Genetics, Karolinska University Hospital , Stockholm 17164 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