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This retrospective study describes the clinical and laboratory features of patients with a genetic diagnosis of <jats:italic>OSTM1<\/jats:italic> MIOP made between January 2011 and December 2021 in the Department of Pediatrics, Al\u2010Adan Hospital, Kuwait. Twenty\u2010two children had confirmed homozygous deletion in <jats:italic>OSTM1<\/jats:italic> (13 females, nine males). Consanguinity was reported in almost all parents. 72.7% were diagnosed before the age of two months, most commonly incidentally with a high clinical suspicion. All 22 patients developed upper respiratory symptoms, hepatosplenomegaly, poor feeding, and had severe developmental delay. 80% of patients developed pain and\/or irritability, and 40.9% were diagnosed with primary seizures. Bone fractures developed in 27% of patients, most likely iatrogenic, and some patients had hernia and gum abnormalities. The mean survival was 10.9\u2009months. The clinical presentation, symptomatology, and mortality of our cohort were compared with other cases of <jats:italic>OSTM1<\/jats:italic> MIOP identified through a comperhensive search of the PubMed database. The findings conclude that <jats:italic>OSTM1<\/jats:italic> MIOP is a multi\u2010systemic disease with distinct clinical features, of which neurological complications are the most severe and include nociplastic pain and irritability. Although orthopedic complications influence the trajectory of most patients with other forms of osteopetrosis, <jats:italic>OSTM1<\/jats:italic> MIOP is driven by its neurological complications. Hence, OSTM1 should be regarded as a neurodegenerative disease with osteopetrosis as a comorbidity that warrants early palliative care referral.<\/jats:p>","DOI":"10.1002\/ajmg.a.63042","type":"journal-article","created":{"date-parts":[[2022,11,12]],"date-time":"2022-11-12T05:29:09Z","timestamp":1668230949000},"page":"459-468","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["The clinical features of <scp><i>OSTM1<\/i><\/scp>\u2010associated malignant infantile osteopetrosis: A retrospective, single\u2010center experience over one decade"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0240-2076","authenticated-orcid":false,"given":"Qutaibah","family":"Alotaibi","sequence":"first","affiliation":[{"name":"Pediatric Department Aladan Hospital  Al\u2010Masayel Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manjiri","family":"Dighe","sequence":"additional","affiliation":[{"name":"Pediatric Department Aladan Hospital  Al\u2010Masayel Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saad","family":"Aldaihani","sequence":"additional","affiliation":[{"name":"Pediatric Department Aladan Hospital  Al\u2010Masayel Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,11,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.80.3.273"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.4103\/1817-1745.111420"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.5144\/0256-4947.1993.81"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2021-242498"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/01913120701578098"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2008.06983.x"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-005-0027-6"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1113\/JP270057"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.6725"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm842"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-990267"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.108.3.793"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2018.00213"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(21)00392-5"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2003.18.10.1740"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2017-1002"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M113.537233"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.96"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.12342"},{"key":"e_1_2_9_21_1","unstructured":"International Association for the Study of Pain (IASP). 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