{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T11:26:31Z","timestamp":1783077991241,"version":"3.54.6"},"reference-count":36,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2024,2,2]],"date-time":"2024-02-02T00:00:00Z","timestamp":1706832000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,2,2]],"date-time":"2024-02-02T00:00:00Z","timestamp":1706832000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Skeletal dysplasias encompass a group of genetic conditions associated with cartilaginous and bone tissue abnormalities, exhibiting a variable phenotype depending on the involved genes and mechanisms. Differential diagnosis is challenging as there are many skeletal dysplasias with similar phenotypes. &lt;b&gt;&lt;i&gt;Summary:&lt;\/i&gt;&lt;\/b&gt; In this review, we describe the physiology of skeletal development and the classification of skeletal dysplasias, followed by a practical approach to the workup of a child with suspected skeletal dysplasia. Diagnosis requires clinical, laboratory, and radiological evaluation to differentiate potential conditions in the patient. Genotyping has emerged as a confirmatory tool in many cases, enabling personalized treatment through a multidisciplinary approach and assessment of associated comorbidities. &lt;b&gt;&lt;i&gt;Key Messages:&lt;\/i&gt;&lt;\/b&gt; As skeletal dysplasias often present with short stature, proportionate or disproportionate, the pediatric endocrinologist plays a crucial role in initial investigative and diagnostic guidance. Identifying the critical clinical manifestations, conducting appropriate initial screening tests, and referring for multidisciplinary follow-up contribute to expeditious diagnosis and family support. <\/jats:p>","DOI":"10.1159\/000536564","type":"journal-article","created":{"date-parts":[[2024,2,2]],"date-time":"2024-02-02T22:00:37Z","timestamp":1706911237000},"page":"1-12","source":"Crossref","is-referenced-by-count":5,"title":["Demystifying Skeletal Dysplasias: A Practical Approach for the Pediatric Endocrinologist"],"prefix":"10.1159","author":[{"given":"Guido de Paula","family":"Colares Neto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cr\u00e9sio de Arag\u00e3o Dantas","family":"Alves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2024,2,2]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.6065\/apem.2015.20.4.187"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63132"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35246"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-7020-3032-1.00004-4"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1302\/2058-5241.5.190088"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1159\/000520812"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.actbio.2013.04.012"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.47162\/RJME.62.3.05"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-021-00595-x"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1055\/s-0041-1723964"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.52"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2023.116674"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2017-01127"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2016.14"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000004200"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1007\/s11914-017-0355-2"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-019-0152-5"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/j.paed.2020.03.004"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2020.06.051"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2005.tb01909.x"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2004.050799"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1007\/s11604-021-01206-5"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1148\/rg.220067"},{"key":"ref24"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-019-04545-8"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1016\/j.nec.2022.02.001"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocd.2020.01.006"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-02025-7"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31861"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.670608"},{"key":"ref31"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1007\/s11136-023-03431-z"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1177\/0022034514529150"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1016\/j.neubiorev.2021.02.009"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2022.116472"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1007\/s00774-021-01298-z"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/hrp\/article-pdf\/doi\/10.1159\/000536564\/4258092\/000536564.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/hrp\/article-pdf\/doi\/10.1159\/000536564\/4258092\/000536564.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:08:25Z","timestamp":1745424505000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000536564"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,2]]},"references-count":36,"URL":"https:\/\/doi.org\/10.1159\/000536564","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,2]]}}}