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Monitoring is the only alternative in these patients because of bone fragility, which is a source of frequent complications. This study aimed to describe the fracture profile, possible complications, and management in this group of patients. Material and methods We conducted a retrospective, descriptive study including 21 fractures in 8 OP patients managed in our department between 1996 and 2022, with a minimum follow-up of 2 years. Patient data included age, sex, history of surgery, fractures, intraoperative difficulties encountered, and complications. Results All of our patients were young adults with a mean age of 28.4 years and an M/F ratio of 3:1. A total of 21 fractures (8 patients with OP) were managed in our department. The femur was the most frequent fracture site. The management of these fractures is surgical. Plate osteosynthesis is the most common indication. Three fractures were treated by orthopaedics. There were high rates of intraoperative and post-operative complications. Discussion Fractures in patients with OP often involve the long bones. As this is a rare disease, there are few studies on the appropriate management of fractures in this population. Most studies are case series with a small number of cases. Osteosynthesis is the recommended treatment for these fractures despite the risk of failure. Therefore, effective preoperative planning is essential. Great care must be taken when synthesizing these fractures to avoid intraoperative complications. Conclusion Fractures in patients with osteopetrosis present a challenge to orthopaedic surgeons. Planned surgery enables the appropriate synthesis of fractures. Long-term follow-up is essential for these patients to detect complications at an early stage. 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F1000Research 2025, 14 :308 ( https://doi.org/10.12688/f1000research.161715.1 ) NOTE: If applicable, it is important to ensure the information in square brackets after the title is included in all citations of this article. Close Copy Citation Details Export Export Citation Sciwheel EndNote Ref. Manager Bibtex ProCite Sente EXPORT Select a format first Track Share ▬ ✚ Clinical Practice Article Osteopetrosis and fracture: planning and management [version 1; peer review: 1 approved with reservations] Amine CHABCHOUB 1 , Mehdi Meddeb https://orcid.org/0000-0002-1253-5163 1 , Mohamed Ali TRIKI https://orcid.org/0009-0002-9825-2670 1 , Safouen BEN BRAHIM 1 , Hassen Makhlouf 1 , Mondher MESTIRI 1 Amine CHABCHOUB 1 , Mehdi Meddeb https://orcid.org/0000-0002-1253-5163 1 , [...] Mohamed Ali TRIKI https://orcid.org/0009-0002-9825-2670 1 , Safouen BEN BRAHIM 1 , Hassen Makhlouf 1 , Mondher MESTIRI 1 PUBLISHED 19 Mar 2025 Author details Author details 1 Universite de Tunis El Manar Faculte de Medecine de Tunis, Tunis, Tunis, Tunisia Amine CHABCHOUB Roles: Writing – Original Draft Preparation Mehdi Meddeb Roles: Validation, Visualization, Writing – Review & Editing Mohamed Ali TRIKI Roles: Writing – Original Draft Preparation, Writing – Review & Editing Safouen BEN BRAHIM Roles: Visualization Hassen Makhlouf Roles: Supervision Mondher MESTIRI Roles: Supervision OPEN PEER REVIEW DETAILS REVIEWER STATUS Abstract Introduction Osteopetrosis (OP) is a rare genetic disorder characterized by increased bone density. Monitoring is the only alternative in these patients because of bone fragility, which is a source of frequent complications. This study aimed to describe the fracture profile, possible complications, and management in this group of patients. Material and methods We conducted a retrospective, descriptive study including 21 fractures in 8 OP patients managed in our department between 1996 and 2022, with a minimum follow-up of 2 years. Patient data included age, sex, history of surgery, fractures, intraoperative difficulties encountered, and complications. Results All of our patients were young adults with a mean age of 28.4 years and an M/F ratio of 3:1. A total of 21 fractures (8 patients with OP) were managed in our department. The femur was the most frequent fracture site. The management of these fractures is surgical. Plate osteosynthesis is the most common indication. Three fractures were treated by orthopaedics. There were high rates of intraoperative and post-operative complications. Discussion Fractures in patients with OP often involve the long bones. As this is a rare disease, there are few studies on the appropriate management of fractures in this population. Most studies are case series with a small number of cases. Osteosynthesis is the recommended treatment for these fractures despite the risk of failure. Therefore, effective preoperative planning is essential. Great care must be taken when synthesizing these fractures to avoid intraoperative complications. Conclusion Fractures in patients with osteopetrosis present a challenge to orthopaedic surgeons. Planned surgery enables the appropriate synthesis of fractures. Long-term follow-up is essential for these patients to detect complications at an early stage. READ ALL READ LESS Keywords Osteopetrosis, Fracture, Fracture management Corresponding Author(s) Mohamed Ali TRIKI ( [email protected] ) Close Corresponding author: Mohamed Ali TRIKI Competing interests: No competing interests were disclosed. Grant information: The author(s) declared that no grants were involved in supporting this work. Copyright: © 2025 CHABCHOUB A et al . This is an open access article distributed under the terms of the Creative Commons Attribution License , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. How to cite: CHABCHOUB A, Meddeb M, TRIKI MA et al. Osteopetrosis and fracture: planning and management [version 1; peer review: 1 approved with reservations] . F1000Research 2025, 14 :308 ( https://doi.org/10.12688/f1000research.161715.1 ) First published: 19 Mar 2025, 14 :308 ( https://doi.org/10.12688/f1000research.161715.1 ) Latest published: 19 Mar 2025, 14 :308 ( https://doi.org/10.12688/f1000research.161715.1 ) Introduction Osteopetrosis (OP), or marble bone disease, is a rare inherited genetic disorder characterized by increased bone density. 1 This is due to defects in the development and function of osteoclasts. 1 Osteopetrosis occurs in approximately 1 in 300.000 births. 2 To date, there has been no definitive cure for OP. 3 For most patients, the treatment involves complications, such as fractures, which are observed in 75% of patients. 3 Treatment of these fractures is difficult and associated with a high rate of complications. 4 We aimed to describe the fracture profile, possible complications, and difficulty of management in patients with osteopetrosis. Methods This was a retrospective, descriptive study including patients followed for OP and managed for fractures at our institute over a 27-year period between 1996 and 2022, with a minimum 2-year follow-up. We excluded patients with a follow-up of less than 2 years and those with missing data. The diagnosis of OP was either already known and for which patients were regularly followed up or made following multiple fracture consultations and confirmed by radiological assessment. Patient data included age, sex, history of surgery, and fracture characteristics (type, site, and number). Indications for the management of patients with osteopetrosis and intraoperative challenges have been reported. We also recorded all the complications encountered. Clinical and radiological follow-up was carried out systematically in all patients at the second, sixth, and twelfth weeks postoperatively and at the final follow-up. Data were analyzed using SPSS software version 26.0. Patient anonymity was maintained during data collection. Written informed consent was obtained from all the participants. The various parties involved in this work declare that they have no conflict of interest. Results Based on these criteria, 21 fractures in eight patients with OP were included in our study. All patients were young adults in their second to fourth decade of life, with a mean age of 28.4 years, 17–42 years). They were predominantly male with an M/F ratio of 3:1. Four patients had a history of orthopaedic treatment for childhood fractures. A kinship was present in our series. Two patients had brothers. For the others, we found no family ties, but on questioning, four patients reported a fairly high rate of fractures in certain members of their families and were not followed up at our institute. The majority of fractures involved the femur (17 fractures), followed by both leg bones (3 fractures). Upper-limb involvement is rare. We report a single case of supra- and intercondylar fracture of the left elbow. The management of these fractures is surgical. Initial plate osteosynthesis was the most common indication (16 fractures), with a Dynamic Compression Plate (DCP) of 4.5 mm for diaphyseal fractures and a Dynamic Hip Screw (DHS) for subtrochanteric fractures ( Figure 1 and Figure 2 ). Figure 1. 5 surgically treated femur fractures (over a 16-year period). Figure 2. Subtrochanteric fracture, right and left, 7 years apart. Only one patient was treated with an external fixator for an open fracture of the two leg bones, and another patient was treated with intramedullary pinning with a poor radiological result, necessitating repeat surgery ( Figure 3 ). Three fractures (one femoral and two 2-leg fractures) were initially treated orthopaedically. Figure 3. Subtrochanteric fracture treated with intramedullary pinning; canal narrowness required revision with plate osteosynthesis. Owing to the hardness of the bone, there was a high rate of intraoperative incidents involving broken instruments and implants, especially drill bits. However, tapping is difficult. The tap broke twice. We also reported breakage of intraosseous screws ( Figure 4 ). Figure 4. Intraosseous fracture of proximal screws. Given the hardness of the bone, we used certain devices to perforate the bone, such as tungsten drill bits, square points, burs, and taps. Intraoperative bleeding was significant in most patients. Surgery in one patient was complicated by hemorrhagic shock, requiring transfusion of 6 packed red blood cells and a stay in the surgical intensive care unit. Post-operative complications were mainly represented by: ○ Early complications: - Early sepsis requiring two washouts. - Hemorrhagic shock due to significant blood loss. ○ Late complications: - Fractures above or below the osteosynthesis material in four patients ( Figure 5 ). - Two cases of plate breakage ( Figure 5 ). - One case of delayed consolidation. - Pseudarthrosis in two cases ( Figure 5 ). Iterative fracture case - One case of late plate sepsis requiring drainage and plate removal. Figure 5. Plate fracture treated with removal and replacement with a longer plate, complicated by pseudarthrosis. A summary of the management of each patient is given in Table 1 . Table 1. Summary of patient management and complications. Gender Age at fracture Fracture Treatment Evolution/Complications 1 st case Male ( Figure 1 , 3 , 5 ) 23 Fracture of proximal 1/3 of right femur Intramedullary pinning with a single pin, given the impossibility of inserting another pin Poor radiological result; Revision by removal of the pin and insertion of a 7-hole plate Subplate fracture at 4 months post-op; 9-hole anterior plate inserted without removing lateral plate; consolidation after 6 months 30 Mid-diaphyseal fracture of left femur Synthesis with 7-hole lateral plate Fracture under plate at 2 years post-op; Removal of old plate and synthesis with longer plate (9 holes) Plate fracture at 4 months post-op with no notion of trauma; Removal of plate and synthesis with 12-hole plate Pseudarthrosis; Cancellous contribution and insertion of a new plate; consolidation after 9 months 2 nd case Male ( Figure 2 ) 25 Right subtrochanteric fracture 4-hole nail-plate Early sepsis; Drainage washed 2 times; Consolidation with hip ankylosis after 4 mouths. 33 Left subtrochanteric fracture DHS 4-hole Pseudarthrosis and plate fracture; therapeutic abstention 42 Left supra- and inter-condylar elbow fracture 2 external and internal plates Consolidation after 3 months with elbow stiffness and mobility of 20/90 3 rd case male 21 Isolated tibia fracture Cast Iterative fracture at 10 months post-trauma; synthesis with 9-hole external plate; consolidation after 4 months 4 th case female 17 Right femur fracture Orthopaedic treatment with splint Consolidation after 4 months 41 Subtrochanteric fracture DHS 6 holes Significant bleeding with hemorrhagic shock and stay in intensive care unit; consolidation after 6 months 5 th case female ( Figure 4 ) 21 Fracture 1/3 proximal right femur 8-hole external plate Breakage of 2 screws proximally Fracture under the plate at 2 years post-operatively; Synthesis with 12-hole anterior plate with consolidation at 9 months post-operatively 27 Mid-diaphyseal fracture of left femur Synthesis with 12-hole lateral plate Delayed consolidation + plate breakage; Functional treatment with consolidation at 1 year postoperatively 29 Open fracture of 2 leg bones External tibio-tibial fixator Delayed consolidation; Walking boot cast then consolidation at 6 months post-op. 6 th case male 18 Mid-diaphyseal fracture of left femur 10-hole lateral plate fixation Consolidation at 9 months post-op. 24 Mid-diaphyseal fracture of right femur Synthesis with lateral plate Fracture above plate at 4 years post-operatively following mild trauma; plate removed and synthesis with 12-hole plate; consolidation at 6 months post-operatively 7 th case female 34 Diaphyseal leg fracture Cast Consolidation at 6 months with callus vicus 8 th case male 29 Mid-diaphyseal fracture of the left femur 8-hole lateral plate fixation Consolidation at 1-year post-op 31 Mid-diaphyseal fracture of right femur Synthesis with 12-hole lateral plate Late sepsis at 18 months post-op; Drainage and plate removal Discussion Osteopetrosis is a rare disease characterized by increased bone deposition in unresorbed calcified cartilage or primary spongiosis. 5 Its incidence is approximately 1 in 300.000 births. 2 The condition is diagnosed based on radiographic findings of generalized osteosclerosis, mainly affecting the axial skeleton and long bones without involvement of the medullary canal. 5 Brittle sclerotic bones are susceptible to severe fractures following relatively minor trauma, which would not result in fractures in healthy individuals. 5 Few studies have focused on this subject. Indeed, the majority of publications were case reports. 6 A personal history of fractures, as well as a family history, must be carefully considered. The diagnosis is often not made during the first consultation. 7 Standard X-rays can guide the diagnosis, showing sclerosis in the long bones, skull, pelvis, and spine, associated with a characteristic “Erlenmeyer flask” appearance of the distal femur, or a “bone-in-bone” appearance in the spine and phalanges. 8 Orthopaedic treatment is part of the therapeutic arsenal for these fractures. Indeed, cases of femoral fractures treated with casts and traction have been reported in the literature. 9 However, longer recovery periods are required, with immobilization averaging three months and reduction difficult to maintain. 5 This treatment can only be considered for diaphyseal fractures of long bones that are only slightly displaced, particularly in children. 9 Osteosynthesis is the recommended treatment, despite the risk of failure; however, good preoperative planning and great care during surgery are required to avoid intraoperative incidents. 6 Conventional plate fixation has shown limited success. 5 , 6 This could be explained by two factors. Screw holes and plate ends create stress zones, increasing the risk of fractures. Plates are prone to fracture because of the high stress they are subjected to during consolidation, which is generally delayed. Locked titanium plates are a good alternative, as they are less rigid implant systems and therefore less susceptible to damage. 5 With regard to drilling, some studies have recommended the use of a high-density metal drill bit, a diamond drill bit or a tungsten carbide drill bit considered to be reliable high-density drill. 10 Dawar et al. 11 reported the use of multiple drill bits of progressive sizes and introduced the use of powerful high-speed motors to avoid back-and-forth drilling with continuous saline irrigation, thus preventing the problem of thermal necrosis. In addition, self-tapping screws minimize the risk of instrument breakage, eliminating the need for an additional tapping step. 5 Plate fractures are generally caused by a short plate applied to the proximal femur. 6 , 12 Because stresses through the proximal femur are very high, any implant that terminates in this region creates stresses at the end of the plate. 12 Most authors recommend the use of longer plates to cover the entire bone. 6 Table 2 summarizes the difficulties encountered in managing patients with OP and their solutions. Table 2. Difficulties encountered in managing patients with osteopetrosis and their solutions. Problems Suggested solution Broken/deformed drill bit Multiple drill bits, diamond drill bits, use of progressive-size drill bits. Hard bone Low-speed, high-torque electric motors; clean drilling grooves. Bone overheating Frequent cooling with saline solution; drilling pauses. Narrow, hard medullary canal Drill patiently under fluoroscopy; use hand drill to mark entry point. Fragile bones Avoid excessive force and the use of a hammer. Difficulty while screw insertion Always use a tap prior to insertion of a cortical screw; always check for the required size with measuring device. Extremely difficult to exchange a screw if the wrong size is inserted. Screw breakage While insertion use a screw with a larger core diameter; avoid cancellous screw which has a lesser core diameter and might break while insertion. Brittle Bone – How to avoid fracture around the plate The last screw should be a unicortical screw, or should be inserted at an obtuse angle directed away from the fracture site to distribute the stress at the terminal end of the plate. Few authors have described the results of intramedullary pinning in the literature, but they are associated with a high rate of revision surgery. 7 Ding et al. 4 recommended predrilling the pin under fluoroscopic control. Intramedullary nailing is recommended to achieve long-term strength. However, it is very difficult to locate the medullary canal in long osteopetrotic bone. 13 The procedure is laborious and involves opening the canal using drills and reamers adapted to this bone. 13 Bone consolidation takes longer in patients with OP; therefore, the ban on weight-bearing must be prolonged. The time required for bone consolidation on the femoral shaft in these patients is approximately one year. 7 Complications associated with fixation in patients with osteopetrosis should be considered when managing these fractures. Early complications consist mainly of significant blood loss, which can lead to hemorrhagic shock due to laborious synthesis and early sepsis of the material due to prolonged operating time. 14 Late complications are fairly frequent, mainly delayed consolidation or pseudarthrosis due to the nature of the bone, 15 fracture above or below the plate due to the biomechanical constraints imposed by the implant, 5 and plate fracture due mainly to pseudarthrosis. 12 A less frequent complication is chronic sepsis, explained by some authors as a result of frequent haematological disorders in these patients, leading to disruption of the local vascularization of the bone and, hence, to poor resistance to infection. 7 The reoperation rate reported in the literature is 29%. 5 , 16 The limitations of our study lie in its retrospective nature and small sample size; however, this is a rare pathology, with a small series in the literature. A multicenter study would enable better generalization of the results and could potentially lead to a consensus regarding fracture management in patients with OP. Currently, there is no specific curative treatment for fractures in OP. 1 However, a better understanding of the pathology could eventually lead to the development of less invasive treatments with fewer complications. Conclusion OP fractures are a challenge for orthopaedic surgeons. Long-term follow-up is essential for the early detection of possible complications. Orthopaedic treatment may be indicated for fractures of the long bones that are only slightly displaced, particularly in children. In all other cases, surgical treatment with plates remains the gold standard treatment. However, this surgery is lengthy and difficult. The prolonged duration of the operation and risk of infection must be clearly explained to the patient. Good preoperative planning is essential to anticipate intraoperative technical difficulties. The risks and benefits of each fixation modality must be considered during planning. Consent to publish Written informed consent was obtained from all participants (or their legal guardians) for publication of this study, including relevant clinical details and accompanying images. Data availability No data are associated with this article. References 1. Palagano E, Menale C, Sobacchi C, et al. : Genetics of Osteopetrosis. Curr. Osteoporos. Rep. 2018; 16 (1): 13–25. Publisher Full Text 2. Fasth A, Porras O: Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation. Pediatr. Transplant. 1999; 3 (Suppl 1): 102–107. PubMed Abstract | Publisher Full Text 3. Teti A, Econs MJ: Osteopetroses, emphasizing potential approaches to treatment. Bone. 2017; 102 : 50–59. PubMed Abstract | Publisher Full Text 4. Ding H, Chen H, Lin H, et al. : Further understanding on osteopetrotic femoral fractures: a case report and literature review. BMC Surg. 2021; 21 (1): 117. PubMed Abstract | Publisher Full Text | Free Full Text 5. Hiyama S, Takahashi T, Matsumura T, et al. : Open reduction and internal fixation using a locking compression plate as treatment for subtrochanteric fracture in two patients with osteopetrosis. Injury. 2020; 51 (2): 565–569. PubMed Abstract | Publisher Full Text 6. Chawla A, Kwek EBK: Fractures in patients with osteopetrosis, insights from a single institution. Int. Orthop. 2019; 43 (6): 1297–1302. PubMed Abstract | Publisher Full Text 7. Yiğit Ş, Arslan H, Akar MS, et al. : Mid-term outcomes of surgical treatment in fractures in patients with osteopetrosis. Bone Jt. J. 2020; 102-B (8): 1082–1087. PubMed Abstract | Publisher Full Text 8. Bollerslev J, Andersen PE: Fracture patterns in two types of autosomal-dominant osteopetrosis. Acta Orthop. Scand. 1989; 60 (1): 110–112. PubMed Abstract | Publisher Full Text 9. Armstrong DG, Newfield JT, Gillespie R: Orthopedic management of osteopetrosis: results of a survey and review of the literature. J. Pediatr. Orthop. 1999; 19 (1): 122–132. PubMed Abstract | Publisher Full Text 10. Kunnasegaran R, Chan YH: Use of an Industrial Tungsten Carbide Drill in the Treatment of a Complex Fracture in a Patient with Severe Osteopetrosis: A Case Report. Malays. Orthop. J. 2017; 11 (1): 64–67. PubMed Abstract | Publisher Full Text 11. Dawar H, Mugalakhod V, Wani J, et al. : Fracture Management In Osteopetrosis: An Intriguing Enigma A Guide For Surgeons. Acta Orthop. Belg. 2017; 83 (3): 488–494. PubMed Abstract 12. Matsuo T, Lee SY, Iwakura T, et al. : Locking plate osteosynthesis for a femoral fracture and subsequent nonunion in a patient with osteopetrosis. Int. J. Surg. Case Rep. 2018; 51 : 395–399. PubMed Abstract | Publisher Full Text | Free Full Text 13. Kim J, Park YC, Moon H-S, et al. : Intramedullary nailing for subtrochanteric fracture in autosomal dominant Type II osteopetrosis: Case report of 2 patients. Medicine (Baltimore). 2020; 99 (32): e21648. PubMed Abstract | Publisher Full Text | Free Full Text 14. Seyfettinoglu F, Tuhanioğlu Ü, Ogur HU, et al. : Proximal femoral fracture surgery in a patient with osteopetrosis tarda: complications and treatment strategy. Int. Med. Case Rep. J. 2016; 9 : 347–351. PubMed Abstract | Publisher Full Text 15. Aslan A, Baykal YB, Uysal E, et al. : Surgical treatment of osteopetrosis-related femoral fractures: two case reports and literature review. Case Rep. Orthop. 2014; 2014 : 891963. 16. Bhargava A, Vagela M, Lennox CME: ‘Challenges in the management of fractures in osteopetrosis’! Review of literature and technical tips learned from long-term management of seven patients. Injury. 2009; 40 (11): 1167–1171. PubMed Abstract | Publisher Full Text Comments on this article Comments (0) Version 1 VERSION 1 PUBLISHED 19 Mar 2025 ADD YOUR COMMENT Comment Author details Author details 1 Universite de Tunis El Manar Faculte de Medecine de Tunis, Tunis, Tunis, Tunisia Amine CHABCHOUB Roles: Writing – Original Draft Preparation Mehdi Meddeb Roles: Validation, Visualization, Writing – Review & Editing Mohamed Ali TRIKI Roles: Writing – Original Draft Preparation, Writing – Review & Editing Safouen BEN BRAHIM Roles: Visualization Hassen Makhlouf Roles: Supervision Mondher MESTIRI Roles: Supervision Competing interests No competing interests were disclosed. Grant information The author(s) declared that no grants were involved in supporting this work. Article Versions (1) version 1 Published: 19 Mar 2025, 14:308 https://doi.org/10.12688/f1000research.161715.1 Copyright © 2025 CHABCHOUB A et al . This is an open access article distributed under the terms of the Creative Commons Attribution License , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Download Export To Sciwheel Bibtex EndNote ProCite Ref. Manager (RIS) Sente metrics Views Downloads F1000Research - - PubMed Central info_outline Data from PMC are received and updated monthly. - - Citations open_in_new 0 open_in_new 0 open_in_new SEE MORE DETAILS CITE how to cite this article CHABCHOUB A, Meddeb M, TRIKI MA et al. Osteopetrosis and fracture: planning and management [version 1; peer review: 1 approved with reservations] . F1000Research 2025, 14 :308 ( https://doi.org/10.12688/f1000research.161715.1 ) NOTE: If applicable, it is important to ensure the information in square brackets after the title is included in all citations of this article. COPY CITATION DETAILS track receive updates on this article Track an article to receive email alerts on any updates to this article. TRACK THIS ARTICLE Share Open Peer Review Current Reviewer Status: ? Key to Reviewer Statuses VIEW HIDE Approved The paper is scientifically sound in its current form and only minor, if any, improvements are suggested Approved with reservations A number of small changes, sometimes more significant revisions are required to address specific details and improve the papers academic merit. Not approved Fundamental flaws in the paper seriously undermine the findings and conclusions Version 1 VERSION 1 PUBLISHED 19 Mar 2025 Views 0 Cite How to cite this report: Cohen-Solal M. Reviewer Report For: Osteopetrosis and fracture: planning and management [version 1; peer review: 1 approved with reservations] . F1000Research 2025, 14 :308 ( https://doi.org/10.5256/f1000research.177787.r399148 ) The direct URL for this report is: https://f1000research.com/articles/14-308/v1#referee-response-399148 NOTE: it is important to ensure the information in square brackets after the title is included in this citation. Close Copy Citation Details Reviewer Report 22 Aug 2025 Martine Cohen-Solal , Universite Paris Cite, Paris, Île-de-France, France Approved with Reservations VIEWS 0 https://doi.org/10.5256/f1000research.177787.r399148 This paper describes the fracture profile of a cohort of osteopetrosis. Eight patients with 21 fractures were analyzed and the report includes a 2 year-follow-up. This is an interesting report since few cases reported the complications that may occur in ... Continue reading READ ALL This paper describes the fracture profile of a cohort of osteopetrosis. Eight patients with 21 fractures were analyzed and the report includes a 2 year-follow-up. This is an interesting report since few cases reported the complications that may occur in details. Few points should be added to improve the manuscript. The introduction should set better the importance of fractures and the possible complications by quoting the published data. It should be explained how the diagnosis of osteopetrosis was reached. Did the patients have autosomal or recessive osteopetrosis? Did they have any genetic tests? How was the informed consent collected? Is there any regulations needed such as ethical committee for the collection of the data? Please rephrase “a kinship was present in the study”. If available, report the inbreeding in the families. What means “Two patients had brothers ». Some words seem missing. Page 3 : what means « 2-leg fractures » : was there fractures of the tibia Results should be more detailed. For the age, provide the mean and the age limits. Provide how many fractures each patient had. Indicate why conservative orthopedic treatment was chosen for 3 fractures. Indicate the major complication details in the result section. Figure 1: provide more information about the profile of the patient since this seems to be after 16 years of surgery. The right femur shows 2 plates. Were these plates implanted at the same time because of the curvature or in 2 different time? What is the age of the patient at the time of the imaging and at what age did the fractures occur? Same comments for the Figure 2: indicate the age of the patient at the time of the imaging and at what age did the fractures occur. Could you provide, if possible, the duration of the surgery if available. The description of the complications should be separated as a paragraph by itself. They should be described in detail, indicating the figures to which they refer as well, this in addition to the table 1. Figure 3: could you provide the X-Ray of the revision. Was the intramedullary pin removed? Also indicate the age at the time of surgery The legends of the figures should be better explained and also indicate what should be seen. Figure 5; indicate the dates in the pictures or in the legend. Page 6: provide details about the infection: after how many surgeries? how was this managed? Is this possible to do a summary table of the characteristics of fractures by number and %: number, location, each complication and so one. The discussion should discuss the results, but not describing the disease. For example, the first 3 paragraphs should be in the introduction rather than in the discussion section. The discussion should explain the results in light of the literature quoted. Is the background of the cases’ history and progression described in sufficient detail? Partly Are enough details provided of any physical examination and diagnostic tests, treatment given and outcomes? Yes Is sufficient discussion included of the importance of the findings and their relevance to future understanding of disease processes, diagnosis or treatment? Yes Is the conclusion balanced and justified on the basis of the findings? Yes References 1. Funck-Brentano T, Zillikens M, Clunie G, Siggelkow H, et al.: Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND. European Journal of Medical Genetics . 2024; 69 . Publisher Full Text Competing Interests: No competing interests were disclosed. Reviewer Expertise: Pathophysiology and clinical research in bone diseases I confirm that I have read this submission and believe that I have an appropriate level of expertise to confirm that it is of an acceptable scientific standard, however I have significant reservations, as outlined above. Close READ LESS CITE CITE HOW TO CITE THIS REPORT Cohen-Solal M. Reviewer Report For: Osteopetrosis and fracture: planning and management [version 1; peer review: 1 approved with reservations] . F1000Research 2025, 14 :308 ( https://doi.org/10.5256/f1000research.177787.r399148 ) The direct URL for this report is: https://f1000research.com/articles/14-308/v1#referee-response-399148 NOTE: it is important to ensure the information in square brackets after the title is included in all citations of this article. COPY CITATION DETAILS Report a concern Respond or Comment COMMENT ON THIS REPORT Comments on this article Comments (0) Version 1 VERSION 1 PUBLISHED 19 Mar 2025 ADD YOUR COMMENT Comment keyboard_arrow_left keyboard_arrow_right Open Peer Review Reviewer Status info_outline Alongside their report, reviewers assign a status to the article: Approved The paper is scientifically sound in its current form and only minor, if any, improvements are suggested Approved with reservations A number of small changes, sometimes more significant revisions are required to address specific details and improve the papers academic merit. Not approved Fundamental flaws in the paper seriously undermine the findings and conclusions Reviewer Reports Invited Reviewers 1 Version 1 19 Mar 25 read Martine Cohen-Solal , Universite Paris Cite, Paris, France Comments on this article All Comments (0) Add a comment Sign up for content alerts Sign Up You are now signed up to receive this alert Browse by related subjects keyboard_arrow_left Back to all reports Reviewer Report 0 Views copyright © 2025 Cohen-Solal M. This is an open access peer review report distributed under the terms of the Creative Commons Attribution License , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. 22 Aug 2025 | for Version 1 Martine Cohen-Solal , Universite Paris Cite, Paris, Île-de-France, France 0 Views copyright © 2025 Cohen-Solal M. This is an open access peer review report distributed under the terms of the Creative Commons Attribution License , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. format_quote Cite this report speaker_notes Responses (0) Approved With Reservations info_outline Alongside their report, reviewers assign a status to the article: Approved The paper is scientifically sound in its current form and only minor, if any, improvements are suggested Approved with reservations A number of small changes, sometimes more significant revisions are required to address specific details and improve the papers academic merit. Not approved Fundamental flaws in the paper seriously undermine the findings and conclusions This paper describes the fracture profile of a cohort of osteopetrosis. Eight patients with 21 fractures were analyzed and the report includes a 2 year-follow-up. This is an interesting report since few cases reported the complications that may occur in details. Few points should be added to improve the manuscript. The introduction should set better the importance of fractures and the possible complications by quoting the published data. It should be explained how the diagnosis of osteopetrosis was reached. Did the patients have autosomal or recessive osteopetrosis? Did they have any genetic tests? How was the informed consent collected? Is there any regulations needed such as ethical committee for the collection of the data? Please rephrase “a kinship was present in the study”. If available, report the inbreeding in the families. What means “Two patients had brothers ». Some words seem missing. Page 3 : what means « 2-leg fractures » : was there fractures of the tibia Results should be more detailed. For the age, provide the mean and the age limits. Provide how many fractures each patient had. Indicate why conservative orthopedic treatment was chosen for 3 fractures. Indicate the major complication details in the result section. Figure 1: provide more information about the profile of the patient since this seems to be after 16 years of surgery. The right femur shows 2 plates. Were these plates implanted at the same time because of the curvature or in 2 different time? What is the age of the patient at the time of the imaging and at what age did the fractures occur? Same comments for the Figure 2: indicate the age of the patient at the time of the imaging and at what age did the fractures occur. Could you provide, if possible, the duration of the surgery if available. The description of the complications should be separated as a paragraph by itself. They should be described in detail, indicating the figures to which they refer as well, this in addition to the table 1. Figure 3: could you provide the X-Ray of the revision. Was the intramedullary pin removed? Also indicate the age at the time of surgery The legends of the figures should be better explained and also indicate what should be seen. Figure 5; indicate the dates in the pictures or in the legend. Page 6: provide details about the infection: after how many surgeries? how was this managed? Is this possible to do a summary table of the characteristics of fractures by number and %: number, location, each complication and so one. The discussion should discuss the results, but not describing the disease. For example, the first 3 paragraphs should be in the introduction rather than in the discussion section. The discussion should explain the results in light of the literature quoted. Is the background of the cases’ history and progression described in sufficient detail? Partly Are enough details provided of any physical examination and diagnostic tests, treatment given and outcomes? Yes Is sufficient discussion included of the importance of the findings and their relevance to future understanding of disease processes, diagnosis or treatment? Yes Is the conclusion balanced and justified on the basis of the findings? Yes References 1. Funck-Brentano T, Zillikens M, Clunie G, Siggelkow H, et al.: Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND. European Journal of Medical Genetics . 2024; 69 . Publisher Full Text Competing Interests No competing interests were disclosed. Reviewer Expertise Pathophysiology and clinical research in bone diseases I confirm that I have read this submission and believe that I have an appropriate level of expertise to confirm that it is of an acceptable scientific standard, however I have significant reservations, as outlined above. reply Respond to this report Responses (0) Cohen-Solal M. Peer Review Report For: Osteopetrosis and fracture: planning and management [version 1; peer review: 1 approved with reservations] . F1000Research 2025, 14 :308 ( https://doi.org/10.5256/f1000research.177787.r399148) NOTE: it is important to ensure the information in square brackets after the title is included in this citation. The direct URL for this report is: https://f1000research.com/articles/14-308/v1#referee-response-399148 Alongside their report, reviewers assign a status to the article: Approved - the paper is scientifically sound in its current form and only minor, if any, improvements are suggested Approved with reservations - A number of small changes, sometimes more significant revisions are required to address specific details and improve the papers academic merit. 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Extraction quality varies by source — PMC NXML preserves structure
cleanly, OA-HTML may include some navigation residue, and OA-PDF can
have broken hyphenation. The publisher copy
(via DOI)
is the canonical version.