{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,19]],"date-time":"2026-04-19T12:48:18Z","timestamp":1776602898518,"version":"3.51.2"},"reference-count":8,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Osteopetrosis is a rare disease characterised by an increase in bone mass, skeletal malformations and bone marrow failure due to defective bone resorption. We report a 3-month-old male child presented with chest infections, failure to thrive and hepatosplenomegaly and diagnosed with osteopetrosis associated with acute myeloid leukaemia M<jats:sub>3<\/jats:sub> type (AML-M<jats:sub>3<\/jats:sub>). The patient died on day 7 of admission due to respiratory failure. To our knowledge, this is the first case where both osteopetrosis and AML is diagnosed in a patient.<\/jats:p>","DOI":"10.1136\/bcr-2013-009765","type":"journal-article","created":{"date-parts":[[2013,8,6]],"date-time":"2013-08-06T08:18:59Z","timestamp":1375777139000},"page":"bcr2013009765","source":"Crossref","is-referenced-by-count":1,"title":["Association of possible osteopetrosis with acute myeloid leukaemia in a child"],"prefix":"10.1136","volume":"2013","author":[{"given":"Rajniti","family":"Prasad","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Institute of Medical Sciences, Varanasi, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B P","family":"Jaiswal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nalanda Medical College, Patna, Bihar, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O P","family":"Mishra","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute of Medical Sciences, Varanasi, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Utpal Kant","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nalanda Medical College, Patna, Bihar, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,8,6]]},"reference":[{"key":"2025082805181672000_2013.aug06_1.bcr2013009765.1","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1111\/j.1365-2141.2008.06983.x","article-title":"Towards a better understanding and new therapeutics of osteopetrosis","volume":"2013","author":"Askmyr","year":"2008","journal-title":"Br J Haematol"},{"key":"2025082805181672000_2013.aug06_1.bcr2013009765.2","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1530\/eje.0.1340143","article-title":"Recent developments in the understanding of osteopetrosis","volume":"2013","author":"Felix","year":"1996","journal-title":"Eur J Endocrinol"},{"key":"2025082805181672000_2013.aug06_1.bcr2013009765.3","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1002\/humu.9266","article-title":"Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation","volume":"2013","author":"Shah","year":"2004","journal-title":"Hum Mutat"},{"key":"2025082805181672000_2013.aug06_1.bcr2013009765.4","first-page":"365","article-title":"R\u00f6ntgenbilder einer seltenen Knockenerkrankung","volume":"2013","author":"Albers-Sch\u00f6nberg","year":"1904","journal-title":"Munch Med Wochenschr"},{"key":"2025082805181672000_2013.aug06_1.bcr2013009765.5","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1542\/peds.93.2.247","article-title":"Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course","volume":"2013","author":"Gerritsen","year":"1994","journal-title":"Paediatrics"},{"key":"2025082805181672000_2013.aug06_1.bcr2013009765.6","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/S8756-3282(99)00244-6","article-title":"Type II autosomal dominant osteopetrosis: clinical and radiological manifestations in 42 patients","volume":"2013","author":"Benichou","year":"2000","journal-title":"Bone"},{"key":"2025082805181672000_2013.aug06_1.bcr2013009765.7","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0022-3476(77)80441-1","article-title":"Osteopetrosis in children: a report of 26 cases","volume":"2013","author":"Loria-Cortes","year":"1977","journal-title":"J Pediatr"},{"key":"2025082805181672000_2013.aug06_1.bcr2013009765.8","first-page":"1639","article-title":"Long term treatment of osteoporosis with recombinant human interferon gamma","volume":"2013","author":"Key","year":"1995","journal-title":"N Engl J Med"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-009765","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:18:24Z","timestamp":1756383504000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-009765"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,6]]},"references-count":8,"alternative-id":["10.1136\/bcr-2013-009765"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-009765","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,6]]}}}