Research & Literature

Osteopetrosis of the Temporal Bone Treated with Cochlear Implant.

Szymanski M, Zasławska K, Trojanowska A, et al.

The journal of international advanced otology 2015; (11(2)):173-5 doi:10.5152/iao.2015.449.

Osteopetrosis - Classic Imaging Findings in the Spine.

Kirkland JD, O'Brien WT

Journal of clinical and diagnostic research : JCDR 2015; (9(8)):TJ01-2 doi:10.7860/JCDR/2015/13334.6348.

Oral Manifestations of Osteopetrosis.

Ullah A, Pervez N, Khan SR, et al.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2015; (25 Suppl 2()):S127-9 doi:10.2015/JCPSP.S127S129.

Marble Bone Disease: A Rare Bone Disorder.

Arumugam E, Harinathbabu M, Thillaigovindan R, Prabhu G

Cureus 2015; (7(10)):e339 doi:10.7759/cureus.339.

Ultrastructural Analyses of Alveolar Bone in a Patient With Osteomyelitis Secondary to Osteopetrosis: A Review of the Literature.

Mikami T, Miake Y, Bologna-Molina R, Takeda Y

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons 2016; (74(8)):1584-95.

Usefulness of liver stiffness measurement in predicting hepatic veno-occlusive disease development in patients who undergo HSCT.

Colecchia A, Marasco G, Ravaioli F, et al.

Bone marrow transplantation 2017; (52(3)):494-497 doi:10.1038/bmt.2016.320.

Clinical Characteristics and Treatment of Osteopetrosis Complicated by Osteomyelitis of the Mandible.

Sun HJ, Xue L, Wu CB, Zhou Q

The Journal of craniofacial surgery 2016; (27(8)):e728-e730 doi:10.1097/SCS.0000000000003048.

Autosomal recessive osteopetrosis with a unique imaging finding: multiple encephaloceles.

Sağlam D, Bilgici MC, Bekçi T, et al.

Skeletal radiology 2017; (46(5)):701-704 doi:10.1007/s00256-017-2595-8.

Carbonic anhydrase II deficiency: report of a novel mutation.

Alsharidi A, Al-Hamed M, Alsuwaida A

CEN case reports 2016; (5(1)):108-112 doi:10.1007/s13730-015-0205-y.

Hematopoietic cell transplantation for a child with OSTM1 osteopetrosis.

Overholt KM, Rose MJ, Joshi S, et al.

Blood advances 2017; (1(4)):279-281 doi:10.1182/bloodadvances.2016002345.

[Identification of new mutations in TCIRG1 as a cause of infantile malignant osteopetrosis in two Mexican patients].

Hernández-Martínez C, Guzmán-Martínez MN, Scheffler-Mendoza S, et al.

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) 2018; (65(1)):108-116 doi:10.29262/ram.v65i1.314.

Impact of hematopoietic stem cell transplant on VEP and ABR values of the patients with malignant infantile osteopetrosis.

Badv RS, Dehghani SS, Behfar M, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018; (22(4)):718-724 doi:10.1016/j.ejpn.2018.04.005.

Bilateral endoscopic optic nerve decompression in an infant with osteopetrosis.

Medsinge A, Sylvester C, Tyler-Kabara E, Stefko ST

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2019; (23(1)):40-42 doi:10.1016/j.jaapos.2018.05.012.

Comparison of Optic Canal Diameter in Children With Malignant Infantile Osteopetrosis and Normal Children and the Effects of Hematopoietic Stem Cell Transplantation on the Optic Canal Diameter.

Cao W, Wei W, Yu G, et al.

Journal of pediatric ophthalmology and strabismus 2019; (56(1)):35-42 doi:10.3928/01913913-20180921-01.

One Disease, Many Genes: Implications for the Treatment of Osteopetroses.

Penna S, Capo V, Palagano E, et al.

Frontiers in endocrinology 2019; (10()):85 doi:10.3389/fendo.2019.00085.

Stem cell transplantation for osteopetrosis in patients beyond the age of 5 years.

Stepensky P, Grisariu S, Avni B, et al.

Blood advances 2019; (3(6)):862-868 doi:10.1182/bloodadvances.2018025890.

Osteopetrosis: presenting as maxillary osteomyelitis.

Gupta S, Kumar R, Agrawal A

Tropical doctor 2019; (49(3)):230-232 doi:10.1177/0049475519833548.

Developmental origin, functional maintenance and genetic rescue of osteoclasts.

Jacome-Galarza CE, Percin GI, Muller JT, et al.

Nature 2019; (568(7753)):541-545 doi:10.1038/s41586-019-1105-7.

Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency.

Satapathy AK, Pandey S, Chaudhary MR, et al.

Journal of pediatric genetics 2019; (8(2)):91-94 doi:10.1055/s-0038-1675781.

Continuous Compressive Force Induces Differentiation of Osteoclasts with High Levels of Inorganic Dissolution.

Matsuike R, Nakai K, Tanaka H, et al.

Medical science monitor : international medical journal of experimental and clinical research 2019; (25()):3902-3909 doi:10.12659/MSM.913674.

When a pedodontic examination leads to the diagnosis of osteopetrosis: A case report.

Athanasiadou E, Vlachou C, Theocharidou A, et al.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2020; (40(1)):113-120 doi:10.1111/scd.12427.

Genetic testing is useful in adults with limited phenotypes of genetic skeletal conditions.

Cottard M, Vignot E, Fontanges E, et al.

Bone 2020; (134()):115218 doi:10.1016/j.bone.2019.115218.

Malignant Infantile Osteopetrosis: A Case Report.

Bubshait DK, Himdy ZE, Fadaaq O, Alshmas HI

Cureus 2020; (12(1)):e6725 doi:10.7759/cureus.6725.

Successful hematopoietic stem cell transplant in leukocyte adhesion deficiency type III presenting primarily as malignant infantile osteopetrosis.

Essa MF, Elbashir E, Alroqi F, et al.

Clinical immunology (Orlando, Fla.) 2020; (213()):108365 doi:10.1016/j.clim.2020.108365.

Skeletal Changes After Hematopoietic Stem Cell Transplantation in Osteopetrosis.

Shapiro G, Fishleder J, Stepensky P, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2020; (35(9)):1645-1651 doi:10.1002/jbmr.4037.

Extensive maxillary osteomyelitis following tooth extraction in a patient with osteopetrosis.

Nilesh K

BMJ case reports 2020; (13(6)) doi:10.1136/bcr-2020-235091.

Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis.

Chorin O, Yachelevich N, Mohamed K, et al.

Molecular genetics & genomic medicine 2020; (8(10)):e1405 doi:10.1002/mgg3.1405.

Intramedullary Canal-creation Technique for Patients with Osteopetrosis.

Kent J, Ferguson D

Strategies in trauma and limb reconstruction 2019; (14(3)):155-162 doi:10.5005/jp-journals-10080-1424.

A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage.

Ali A, Bin Arif T, Khan S, et al.

Cureus 2020; (12(7)):e9234 doi:10.7759/cureus.9234.

Haploidentical stem cell transplantation with post-transplant cyclophosphamide for osteopetrosis and other nonmalignant diseases.

Even-Or E, NaserEddin A, Dinur Schejter Y, et al.

Bone marrow transplantation 2021; (56(2)):434-441 doi:10.1038/s41409-020-01040-9.

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.

Di Zanni E, Palagano E, Lagostena L, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2021; (36(3)):531-545 doi:10.1002/jbmr.4200.

How we approach malignant infantile osteopetrosis.

Even-Or E, Stepensky P

Pediatric blood & cancer 2021; (68(3)):e28841 doi:10.1002/pbc.28841.

Hematopoietic stem cell transplantation in a patient with osteopetrosis and mutation in CLCN7: long-term follow-up.

Gaytán-Morales JF, Castorena-Villa I, Mendoza-Camargo FO, et al.

Boletin medico del Hospital Infantil de Mexico 2021; (78(3)):225-233 doi:10.24875/BMHIM.20000105.

Defibrotide in hematopoietic stem cell transplantation: A multicenter survey study of the Spanish Hematopoietic Stem Cell Transplantation Group (GETH).

González Vicent M, Díaz de Heredia C, González de Pablo J, et al.

European journal of haematology 2021; (106(6)):842-850 doi:10.1111/ejh.13618.

Case report of osteomyelitis of the mandible in osteopetrosis and management considerations.

Allal S, Rabuel V, Gengler C, et al.

International journal of surgery case reports 2021; (81()):105813 doi:10.1016/j.ijscr.2021.105813.

Managing challenging pain and irritability in OSTM1 mutation-related infantile malignant osteopetrosis.

Alotaibi Q, Dighe M

BMJ case reports 2021; (14(5)) doi:10.1136/bcr-2021-242498.

A novel mutation in TNFRSF11A gene causes pediatric osteopetrosis: case report.

Xu Y, Yu X, Huang M

BMC surgery 2021; (21(1)):269 doi:10.1186/s12893-021-01266-4.

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.

Liang H, Li N, Yao RE, et al.

Molecular genetics & genomic medicine 2021; (9(11)):e1815 doi:10.1002/mgg3.1815.

Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis.

Even-Or E, Schiesel G, Simanovsky N, et al.

Bone 2022; (154()):116229 doi:10.1016/j.bone.2021.116229.

Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians.

Kaur P, Panigrahi I, Kaur H, et al.

Case reports in genetics 2021; (2021()):7133508 doi:10.1155/2021/7133508.

Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease.

Lu K, Cheng B, Shi Q, et al.

BMC musculoskeletal disorders 2022; (23(1)):719 doi:10.1186/s12891-022-05687-x.

Early treatment of osteopetrosis: Paradigm shift to marrow cell transplantation.

Teti A

Bone 2022; (164()):116512 doi:10.1016/j.bone.2022.116512.

Imaging in osteopetrosis.

Calder AD, Arulkumaran S, D'Arco F

Bone 2022; (165()):116560 doi:10.1016/j.bone.2022.116560.

Malignant Infantile Osteopetrosis with Bone Marrow Involvement.

Khadga M, M Raihanur Rahman AZ, Benzamin MD, et al.

Kathmandu University medical journal (KUMJ) 2022; (20(77)):107-110.

Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations.

Spinnato P, Pedrini E, Petrera MR, et al.

Genes 2022; (13(11)) doi:10.3390/genes13111965.

Osteomyelitis Possibly Caused by Exfoliation of Primary Teeth in a Patient with Osteopetrosis.

Okawa R, Yokota Y, Morita Y, et al.

Children (Basel, Switzerland) 2022; (9(12)) doi:10.3390/children9121894.

Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis.

Ma Y, Xu Y, Zhang Y, Duan X

International journal of molecular sciences 2023; (24(12)) doi:10.3390/ijms241210412.

[Analysis of clinical presentation and genetic characteristics of malignant infantile osteopetrosis].

Wei A, Zhu GH, Qin MQ, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2023; (61(11)):1038-1042 doi:10.3760/cma.j.cn112140-20230822-00124.

A Case of Osteopetrosis with Orbital Inflammation Secondary to Maxillary Osteomyelitis.

Misaki T, Murao F, Shinomiya K, et al.

Case reports in ophthalmology 2024; (15(1)):92-99 doi:10.1159/000536140.

Carbonic Anhydrase II Deficiency: Unusual Presentation of the Arabic Mutation. A Case Report.

Alayed Y, Alghamdi W, Alyousef R

Global pediatric health 2024; (11()):2333794X241230873 doi:10.1177/2333794X241230873.

Osteopetrosis in the pediatric patient: what the radiologist needs to know.

McLuckey MN, Imel EA, Forbes-Amrhein MM

Pediatric radiology 2024; (54(7)):1105-1115 doi:10.1007/s00247-024-05899-4.

Infantile osteopetrosis with delayed development, organomegaly and wandering eyes: case report.

Prithvi A, Kodethoor D, K S, Lewin S

Paediatrics and international child health 2024; (44(2)):52-54 doi:10.1080/20469047.2024.2335423.

Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND.

Funck-Brentano T, Zillikens MC, Clunie G, et al.

European journal of medical genetics 2024; (69()):104936 doi:10.1016/j.ejmg.2024.104936.

Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report.

Shamsian BS, Momtazmanesh N, Saneifard H, et al.

Pediatric transplantation 2024; (28(3)):e14689 doi:10.1111/petr.14689.

Molecular Heterogeneity of Osteopetrosis in India: Report of 17 Novel Variants.

Arunachalam AK, Aboobacker FN, Sampath E, et al.

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2024; (40(3)):494-503 doi:10.1007/s12288-023-01732-4.

Management of Osteomyelitis in Autosomal Dominant Osteopetrosis: A Rare Case Report.

Almutairi M, Alharbi A, Almutairi H, et al.

Cureus 2024; (16(6)):e62660 doi:10.7759/cureus.62660.

Malignant osteopetrosis of infancy: A case report.

Avijgan F, Abbasian F, Dehnavi M, Sarchahi Z

International journal of surgery case reports 2024; (123()):110206 doi:10.1016/j.ijscr.2024.110206.

Benign Adult-Type Osteopetrosis with Recurrent Osteomyelitis of the Maxilla-A Rare Case Report.

Aswath N, Bhargavi R

Indian journal of dental research : official publication of Indian Society for Dental Research 2024; doi:10.4103/ijdr.ijdr_10_24.

Osteopetrosis with Typical Radiological Findings: A Report of a Rare Case.

Kibrom BT, Feleke TH, Admasu W, et al.

Ethiopian journal of health sciences 2024; (34(2)):163-167 doi:10.4314/ejhs.v34i2.8.

Rare Cause of Bone Marrow Failure: Osteopetrosis, Case Series.

Aktekin EH, Görükmez O, Sulaimanov U, et al.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2025; (28(4)):326-332 doi:10.1177/10935266251330174.

Bone Mineral Density Assessment by Dual-Energy X-Ray Absorptiometry (DEXA) Versus Serum Tartrate-Resistant Acid Phosphatase 5b (TRAP-5b) in Children With Classic Salt-Losing Congenital Adrenal Hyperplasia.

ElBakry NM, Khalf A, Ameen M, Mahgoob M

Cureus 2025; (17(5)):e83778 doi:10.7759/cureus.83778.

Malignant Infantile Osteopetrosis With Neurological and Hematological Complications: A Case Review.

Abdulsalam TA, Elmiaari M, ALRomithi LD, et al.

Cureus 2025; (17(6)):e85521 doi:10.7759/cureus.85521.

Subtrochanteric Femur Fracture in Osteopetrosis With Multiple Previous Fractures: A Case Report on Surgical Challenges and Outcome.

Bist O, Dahal S, Khati S, et al.

Clinical case reports 2025; (13(10)):e71203 doi:10.1002/ccr3.71203.

Autosomal Dominant Osteopetrosis - Identification of a New Mutation.

Monteiro I, Moutinho-Pereira S, Kornak U, Carneiro L

European journal of case reports in internal medicine 2025; (12(12)):006042 doi:10.12890/2025_006042.