{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T22:11:42Z","timestamp":1757628702528,"version":"3.44.0"},"reference-count":4,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T00:00:00Z","timestamp":1748563200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory complications. These reports have likely guided perinatal counseling and management recommendations provided to expectant families with these specific dual\u2010dysplasia diagnoses. We present two clinical reports of unrelated children with both achondroplasia and type 2 collagenopathy who received multidisciplinary care and life\u2010sustaining medical interventions including a tracheostomy, gastrostomy tube, and neurosurgical management. With these interventions, these individuals have outlived the previously reported life expectancy, and their parents report a good quality of life.<\/jats:p>","DOI":"10.1002\/ajmg.a.64136","type":"journal-article","created":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T08:54:52Z","timestamp":1748595292000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy"],"prefix":"10.1002","volume":"197","author":[{"given":"Valerie R.","family":"Schwartz","sequence":"first","affiliation":[{"name":"Division of Academic General Pediatrics, Department of Pediatrics Nemours Children's Health  Wilmington Delaware USA"},{"name":"Sidney Kimmel Medical College Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Schelhaas","sequence":"additional","affiliation":[{"name":"Perinatal and Advanced Delivery Programs Nemours Children's Health  Wilmington Delaware USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2204-4659","authenticated-orcid":false,"given":"Angela L.","family":"Duker","sequence":"additional","affiliation":[{"name":"Division of Orthogenetics, Department of Pediatrics Nemours Children's Health  Wilmington Delaware USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9221-4879","authenticated-orcid":false,"given":"Ricki S.","family":"Carroll","sequence":"additional","affiliation":[{"name":"Sidney Kimmel Medical College Thomas Jefferson University  Philadelphia Pennsylvania USA"},{"name":"Division of Orthogenetics, Department of Pediatrics Nemours Children's Health  Wilmington Delaware USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,5,30]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_10_2_1","DOI":"10.1002\/pd.1525"},{"doi-asserted-by":"publisher","key":"e_1_2_10_3_1","DOI":"10.1002\/ajmg.a.20143"},{"doi-asserted-by":"publisher","key":"e_1_2_10_4_1","DOI":"10.1111\/j.1399\u20100004.1995.tb04051.x"},{"doi-asserted-by":"publisher","key":"e_1_2_10_5_1","DOI":"10.1136\/jmg.29.11.831"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64136","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T10:29:02Z","timestamp":1757500142000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64136"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,30]]},"references-count":4,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1002\/ajmg.a.64136"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64136","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2025,5,30]]},"assertion":[{"value":"2025-01-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-21","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e64136"}}