{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:14:42Z","timestamp":1753877682756,"version":"3.41.2"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,1,18]],"date-time":"2025-01-18T00:00:00Z","timestamp":1737158400000},"content-version":"vor","delay-in-days":17,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Acrodysostosis (ADO) is a rare form of peripheral dysostosis characterized by skeletal malformations, growth delays, short stature, and distinctive facial features caused by in part by underdeveloped (hypoplasia) of facial bones. Skeletal dysplasia is specific and includes disproportional short stature with short extremities and brachydactyly, multiple cone-shaped epiphyses, scoliosis or kyphosis with spinal stenosis, and advanced bone maturation. Herein, we are highlighting a case that presented with clinical features such as brachydactyly, delayed milestone, growth delay, muscle weakness and nasal hypoplasia. Patient genetic testing was in line with the diagnosis of acrodysostosis. The clinic-radiological correlation was also suggestive of the rare diagnosis of ADO.<\/jats:p>","DOI":"10.1093\/omcr\/omae169","type":"journal-article","created":{"date-parts":[[2025,1,18]],"date-time":"2025-01-18T13:30:10Z","timestamp":1737207010000},"source":"Crossref","is-referenced-by-count":0,"title":["A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report"],"prefix":"10.1093","volume":"2025","author":[{"given":"Muhammad Sheraz","family":"Hameed","sequence":"first","affiliation":[{"name":"Rawalpindi Medical University Department of Medicine, , Tipu Road, Chamanzar Colony, Rawalpindi 46000, Punjab,","place":["Pakistan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maimoona","family":"Maheen","sequence":"additional","affiliation":[{"name":"Rawalpindi Medical University Department of Medicine, , Tipu Road, Chamanzar Colony, Rawalpindi 46000, Punjab,","place":["Pakistan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sauban Mansoor","family":"Sadiq","sequence":"additional","affiliation":[{"name":"Shaheed Zulfiqar Ali Bhutto Medical University Department of Medicine, , Sector G-8\/3, Ravi Road, Islamabad 44000,","place":["Pakistan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Umer","family":"Farooq","sequence":"additional","affiliation":[{"name":"Rawalpindi Medical University Department of Medicine, , Tipu Road, Chamanzar Colony, Rawalpindi 46000, Punjab,","place":["Pakistan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6118-717X","authenticated-orcid":false,"given":"Abdur","family":"Rehman","sequence":"additional","affiliation":[{"name":"Rawalpindi Medical University Department of Medicine, , Tipu Road, Chamanzar Colony, Rawalpindi 46000, Punjab,","place":["Pakistan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arham","family":"Ihtesham","sequence":"additional","affiliation":[{"name":"Rawalpindi Medical University Department of Medicine, , Tipu Road, Chamanzar Colony, Rawalpindi 46000, Punjab,","place":["Pakistan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imran","family":"Khan","sequence":"additional","affiliation":[{"name":"PGY2 NYCH+H\/Woodhull Brooklyn Network Department of Medicine, , 760 Broadway, Brooklyn, NY 11206,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahzaib","family":"Maqbool","sequence":"additional","affiliation":[{"name":"Rawalpindi Medical University Department of Medicine, , Tipu Road, Chamanzar Colony, Rawalpindi 46000, Punjab,","place":["Pakistan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2627-685X","authenticated-orcid":false,"given":"Javed","family":"Iqbal","sequence":"additional","affiliation":[{"name":"Hammad Medical Corporation Nursing Department Communicable Diseases Center, , Doha 3050,","place":["Qatar"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,1,18]]},"reference":[{"key":"2025011813295629800_ref1","first-page":"2189","article-title":"Acrodysostosis","volume":"76","author":"Maroteaux","year":"1968","journal-title":"Presse Med"},{"key":"2025011813295629800_ref2","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/bonekey.2012.225","article-title":"Acrodysostosis syndromes","volume":"1","author":"Silve","year":"2012","journal-title":"Bonekey 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phosphorylation","volume":"9","author":"Hoppmann","year":"2017","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"2025011813295629800_ref10","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1186\/s12881-020-01127-6","article-title":"Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report","volume":"21","author":"Kartalias","year":"2020","journal-title":"BMC Med Genet"}],"container-title":["Oxford Medical Case 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