{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:14:45Z","timestamp":1753877685377,"version":"3.41.2"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T00:00:00Z","timestamp":1743120000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Aase-Smith syndrome type 2 is a rare genetic disorder that affects erythropoiesis and bone development, causing hypoplastic anemia and abnormalities in the fingers and toes, specifically triphalangeal thumbs. While there is no cure, treatment involves managing symptoms through blood transfusions, surgical intervention, and genetic counselling. A 15-year-old student presented with an unmeasured fever for two months, recurrent lung infections, difficulty in speech, and impaired gait. The patient had multiple congenital malformations including triphalangeal thumbs and a history of mild anemia. Bone marrow biopsy revealed an isolated slowing of erythroid lineage maturation. Radiology studies showed scoliosis, hand deformities, and multiple calcified lesions in the brain. The patient\u2019s fever exacerbated, and oxygen saturation deteriorated, necessitating tracheal intubation. Several hours later, the patient passed away.<\/jats:p>","DOI":"10.1093\/omcr\/omaf006","type":"journal-article","created":{"date-parts":[[2025,3,31]],"date-time":"2025-03-31T16:39:29Z","timestamp":1743439169000},"source":"Crossref","is-referenced-by-count":0,"title":["Aase-Smith syndrome type 2 with new neurological findings"],"prefix":"10.1093","volume":"2025","author":[{"given":"Sarah","family":"Aljarad","sequence":"first","affiliation":[{"name":"Department of haematology, Damascus University Faculty of Medicine, \u00a0 Damascus ,","place":["Syria"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmad","family":"Alhamid","sequence":"additional","affiliation":[{"name":"Biomedical Sciences, Nagasaki University Graduate School of Biomedical Sciences , Nagasaki ,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2970-7379","authenticated-orcid":false,"given":"Hamdah","family":"Hanifa","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Kalamoon , Al-Nabk ,","place":["Syria"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Obada","family":"Zayegh","sequence":"additional","affiliation":[{"name":"Healthcare, Royal Devon University Healthcare NHS Foundation Trust , Exeter, DE ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4848-6719","authenticated-orcid":false,"given":"Jamal","family":"Ataya","sequence":"additional","affiliation":[{"name":"Medicine, University of Aleppo Faculty of Medicine , Aleppo ,","place":["Syria"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3422-5780","authenticated-orcid":false,"given":"Ziad","family":"Aljarad","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, University of Aleppo , Aleppo ,","place":["Syria"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,3,28]]},"reference":[{"key":"2025042806361202900_ref1","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1016\/S0022-3476(69)80208-8","article-title":"Congenital anemia and triphalangeal thumbs: a new syndrome","volume":"74","author":"Aase","year":"1969","journal-title":"J Pediatr"},{"key":"2025042806361202900_ref2","doi-asserted-by":"crossref","first-page":"189","DOI":"10.3109\/08880019409141655","article-title":"Heterogeneity of the erythropoietic defect in two cases of Aase-Smith syndrome","volume":"11","author":"D\u2019avanzo","year":"1994","journal-title":"Pediatr Hematol Oncol"},{"key":"2025042806361202900_ref3","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/BF00441882","article-title":"The Aase syndrome. 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