{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T23:51:50Z","timestamp":1781567510781,"version":"3.54.5"},"reference-count":11,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,5,2]]},"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:p>A woman in her 30s underwent a 17-week ultrasound which revealed short bowed long bones. Fetal CT at 28 weeks\u2019 gestation showed decreased ossification of the skull, a small bell-shaped thorax, hypoplastic vertebrae, and shortening and bowing of the long bones, leading to the diagnosis of osteogenesis imperfecta (OI) type II. The newborn was delivered via caesarean delivery, and tracheal intubation was performed due to the respiratory distress. A heterozygous variant in <jats:italic>COL1A1<\/jats:italic> (c.1679G&gt;T, p. Gly358Val) was ascertained, confirming the diagnosis of OI type II.<\/jats:p>\n               <jats:p>Cyclic intravenous pamidronate was started at 41 days old with dose modification and was successfully administered every month. Currently, the infant is 8\u2009months old without any new bone fracture. He was extubated successfully at 7\u2009months of age and is now stable using high flow nasal cannula. The efficacy, safety, and optimal dose and timing of cyclic pamidronate for OI type II remain undefined. We report our experience of successful cyclic intravenous pamidronate treatment for an infant with OI type II.<\/jats:p>","DOI":"10.1136\/bcr-2022-252593","type":"journal-article","created":{"date-parts":[[2023,5,15]],"date-time":"2023-05-15T10:45:48Z","timestamp":1684147548000},"page":"e252593","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Cyclic intravenous pamidronate for an infant with osteogenesis imperfecta type II"],"prefix":"10.1136","volume":"16","author":[{"given":"Kyoko","family":"Fukahori","sequence":"first","affiliation":[{"name":"Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Nirei","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaoru","family":"Yamawaki","sequence":"additional","affiliation":[{"name":"Departments of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5882-661X","authenticated-orcid":false,"given":"Keisuke","family":"Nagasaki","sequence":"additional","affiliation":[{"name":"Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,5,15]]},"reference":[{"key":"2025082712025320000_16.5.e252593.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"key":"2025082712025320000_16.5.e252593.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36545"},{"key":"2025082712025320000_16.5.e252593.3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61366"},{"key":"2025082712025320000_16.5.e252593.4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170204"},{"key":"2025082712025320000_16.5.e252593.5","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.pedneo.2013.12.001","article-title":"Cyclic pamidronate infusion for neonatal-onset osteogenesis imperfecta","volume":"55","author":"Lin","year":"2014","journal-title":"Pediatr Neonatol"},{"key":"2025082712025320000_16.5.e252593.6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199810013391402"},{"key":"2025082712025320000_16.5.e252593.7","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.bone.2004.03.008","article-title":"Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta","volume":"35","author":"Munns","year":"2004","journal-title":"Bone"},{"key":"2025082712025320000_16.5.e252593.8","doi-asserted-by":"crossref","first-page":"2507","DOI":"10.2147\/DDDT.S141075","article-title":"Therapy with pamidronate in children with osteogenesis imperfecta","volume":"11","author":"Marginean","year":"2017","journal-title":"Drug Des Devel Ther"},{"key":"2025082712025320000_16.5.e252593.9","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025082712025320000_16.5.e252593.10","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181a1ff7b"},{"key":"2025082712025320000_16.5.e252593.11","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1111\/ped.13535","article-title":"Cyclic intravenous pamidronate in a very low-birthweight infant with osteogenesis imperfecta","volume":"60","author":"Eto","year":"2018","journal-title":"Pediatr Int"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-252593","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:02:59Z","timestamp":1756321379000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-252593"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5]]},"references-count":11,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2023,5,15]]},"published-print":{"date-parts":[[2023,5]]}},"alternative-id":["10.1136\/bcr-2022-252593"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-252593","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5]]}}}