{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:42:24Z","timestamp":1791229344338,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T00:00:00Z","timestamp":1763078400000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Hypochondroplasia (HCH) is a rare genetic skeletal dysplasia characterized by short stature, disproportionate limbs, and complications such as learning differences. Currently, no treatments are approved to address HCH\u2010related short stature, which can adversely affect quality of life. This study aimed to explore diagnostic processes, care pathways, daily life impacts, and unmet needs in HCH.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Ninety\u2010minute interviews were conducted with nine children and young adults and 25 caregivers who had physician\u2010confirmed HCH. Participants discussed diagnostic journeys, treatment considerations, and day\u2010to\u2010day challenges. Following interviews, two 90\u2010min focus groups among caregivers (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200910) were conducted to explore themes emerging during interviews.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We found that diagnostic pathways vary significantly, with signs of HCH identified in utero or during infancy or early childhood. Families described complex psychosocial burdens that include impacts on daily activities and emotional challenges due to height differences and disproportionate limb length. Additionally, many people with HCH have complications that go beyond short stature and include developmental delays, learning differences, and seizures. Families desire more support and resources related to HCH.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Future efforts should focus on holistic, patient\u2010centered strategies to better support individuals with HCH and their families.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70151","type":"journal-article","created":{"date-parts":[[2025,11,14]],"date-time":"2025-11-14T17:41:20Z","timestamp":1763142080000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Living With Hypochondroplasia: A Qualitative Exploration of Children's and Caregivers' Experiences, Challenges, and Unmet Needs"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6892-3958","authenticated-orcid":false,"given":"Elisabeth M.","family":"Oehrlein","sequence":"first","affiliation":[{"name":"Applied Patient Experience, LLC  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reni","family":"Pekala","sequence":"additional","affiliation":[{"name":"Hypochondroplasia Families Community  Greystones Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacie","family":"Cavallaro","sequence":"additional","affiliation":[{"name":"BioMarin Pharmaceutical Inc.  Novato California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Cho","sequence":"additional","affiliation":[{"name":"BioMarin Pharmaceutical Inc.  Novato California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chandler","family":"Crews","sequence":"additional","affiliation":[{"name":"The Chandler Project  Little Rock Arkansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Dauber","sequence":"additional","affiliation":[{"name":"Children's National Hospital  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankita","family":"Saxena","sequence":"additional","affiliation":[{"name":"Applied Patient Experience, LLC  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joe","family":"Vandigo","sequence":"additional","affiliation":[{"name":"Applied Patient Experience, LLC  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily S.","family":"Reese","sequence":"additional","affiliation":[{"name":"Applied Patient Experience, LLC  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,11,14]]},"reference":[{"key":"e_1_2_10_2_1","volume-title":"The Chandler Project","author":"Achondroplasia & Skeletal Dysplasia Research Conference","year":"2024"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1297\/cpe.2021-0043"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ghir.2021.101392"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100920"},{"key":"e_1_2_10_6_1","volume-title":"GeneReviews","author":"Bober M. B.","year":"2020"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63431"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eclinm.2024.102591"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2023.1229666"},{"key":"e_1_2_10_10_1","first-page":"280","article-title":"Limb Lengthening in Short\u2010Stature Patients Using Monolateral and Circular External Fixators","volume":"15","author":"Lie C. W. H.","year":"2009","journal-title":"Hong Kong Medical Journal"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35642"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.2217\/pgs.15.129"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11136-023-03431-z"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/ACM.0000000000000388"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40271-023-00658-3"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.3390\/children8070540"},{"key":"e_1_2_10_17_1","volume-title":"Hypochondroplasia Natural History","author":"Pauli R. M.","year":"2009"},{"key":"e_1_2_10_18_1","article-title":"A Manifesto From Global Heart Hub for Early Detection and Diagnosis of Cardiovascular Disease","volume":"46","author":"Pinto F. J.","year":"2024","journal-title":"European Heart Journal"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61912"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35327"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70151","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T07:06:09Z","timestamp":1764140769000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.70151"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":19,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1002\/mgg3.70151"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.70151","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"2025-05-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70151"}}