{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T03:52:00Z","timestamp":1782964320540,"version":"3.54.5"},"reference-count":11,"publisher":"BMJ","issue":"7","license":[{"start":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T00:00:00Z","timestamp":1689120000000},"content-version":"unspecified","delay-in-days":11,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,6,17]]},"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:p>We report a severe form of osteogenesis imperfecta (OI) type VIII from a lower-middle income country. This is the first case report of this type in Tanzania. The term neonate was delivered normally via spontaneous vaginal delivery and presented at the neonatal unit with features of shortened limb girdles and macrocephaly. The long bones had multiple fractures. He was diagnosed clinically to have OI or a type of metaphysial dysplasia. A plain X-ray showed multiple fractures of the long bones. The eyes did not have blue sclerae. Clinically, the generic diagnosis of OI was made.<\/jats:p>\n               <jats:p>Genetic testing revealed typical prolyl 3-hydroxylase 1 (<jats:italic>P3HI<\/jats:italic>) gene mutations and a variant coordinate <jats:italic>NM_001243246.1:c.1095C&gt;G\u2009p<\/jats:italic>, indicating a severe, fatal form of autosomal-recessive OI type VIII which presents with white sclerae. This rare variant is described here for the first time in our setting. This case highlights the need for genetic testing.<\/jats:p>","DOI":"10.1136\/bcr-2022-253155","type":"journal-article","created":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T10:30:52Z","timestamp":1689157852000},"page":"e253155","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Osteogenesis imperfecta type VIII: highlighting the need for genetic testing"],"prefix":"10.1136","volume":"16","author":[{"given":"Haika","family":"Mariki","sequence":"first","affiliation":[{"name":"Paediatrics, Muhimbili National Hospital, Dar es Salaam, United Republic of Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kandi","family":"Muze","sequence":"additional","affiliation":[{"name":"Paediatrics and Child Health, Muhimbili National Hospital, Dar es Salaam, United Republic of Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Mussa","sequence":"additional","affiliation":[{"name":"Paediatrics and Child Health, Muhimbili University of Health and Allied Sciences, Dar es Salaam, United Republic of Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7069-6408","authenticated-orcid":false,"given":"Karim Premji","family":"Manji","sequence":"additional","affiliation":[{"name":"Paediatrics and Child Health, Muhimbili University of Health and Allied Sciences, Dar es Salaam, United Republic of Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,7,12]]},"reference":[{"key":"2025082723503708000_16.7.e253155.1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1968"},{"key":"2025082723503708000_16.7.e253155.2","first-page":"367","article-title":"Current and emerging treatments for the management of osteogenesis imperfecta","volume":"6","author":"Monti","year":"2010","journal-title":"Ther Clin Risk Manag"},{"key":"2025082723503708000_16.7.e253155.3","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e328332c68f"},{"key":"2025082723503708000_16.7.e253155.4","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/ajmg.a.61934","article-title":"A new case of osteogenesis imperfecta type VIII and retinal detachment","volume":"185","author":"de Souza","year":"2021","journal-title":"Am J Med Genet A"},{"key":"2025082723503708000_16.7.e253155.5","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31816b5cae"},{"key":"2025082723503708000_16.7.e253155.6","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"2025082723503708000_16.7.e253155.7","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2011.44"},{"key":"2025082723503708000_16.7.e253155.8","doi-asserted-by":"crossref","DOI":"10.3390\/genes14020322","article-title":"A founder intronic variant in P3H1 likely results in aberrant splicing and protein truncation in patients of Karen descent with osteogenesis imperfecta type VIII","volume":"14","author":"Kantaputra","year":"2023","journal-title":"Genes (Basel)"},{"key":"2025082723503708000_16.7.e253155.9","doi-asserted-by":"crossref","first-page":"3516","DOI":"10.1210\/jc.2016-1334","article-title":"Non-lethal type VIII osteogenesis imperfecta has elevated bone matrix mineralization","volume":"101","author":"Fratzl-Zelman","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"2025082723503708000_16.7.e253155.10","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M312807200"},{"key":"2025082723503708000_16.7.e253155.11","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.81"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-253155","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T06:50:50Z","timestamp":1756363850000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-253155"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7]]},"references-count":11,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2023,7,12]]},"published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1136\/bcr-2022-253155"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-253155","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7]]}}}