Idiopathic Bilateral Brachymetacarpia–Brachymetatarsia with Third Metacarpal and Fourth Metatarsal Involvement- Case Report

preprint OA: closed CC-BY-4.0
📄 Open PDF Full text JSON View at publisher

Abstract

Abstract Background: Brachymetacarpia and brachymetatarsia are rare congenital deformities that develop as a result of premature closure of the epiphyseal plates of the metacarpal and metatarsal bones. The deformity is most often noticed during childhood or adolescence and may be associated with certain syndromic or endocrinological conditions. In cases of brachymetacarpia, in addition to functional problems, cosmetic reasons such as disruption of the joint contour during fist formation or asymmetry of finger lengths constitute indications for surgical intervention. In brachymetatarsia, in addition to cosmetic concerns, transfer metatarsalgia, pain, callus formation, and difficulty in wearing shoes are the main reasons requiring surgical intervention. It most frequently involves a single bone, and multiple and bilateral forms have been reported only rarely in the literature. Materials and Methods: In this case report, a 22-year-old female patient is described who is characterized by bilateral shortening of the third metacarpal and fourth metatarsal bones, without any accompanying syndromic features or endocrinopathy. Results: Radiological examinations revealed marked symmetry, and no pathological findings were detected in laboratory tests. Surgical and conservative treatment options were evaluated; according to the patient’s preference, surgical intervention was planned for the hand deformity, while the foot deformity was managed conservatively. Conclusions: This case contributes to the literature not only because of its rare multiple and bilateral bone involvement but also by the presence of a family history.
Full text 56,229 characters · extracted from preprint-html · click to expand
Idiopathic Bilateral Brachymetacarpia–Brachymetatarsia with Third Metacarpal and Fourth Metatarsal Involvement- Case Report | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Case Report Idiopathic Bilateral Brachymetacarpia–Brachymetatarsia with Third Metacarpal and Fourth Metatarsal Involvement- Case Report Abdulmetin Hartavi, Zeynettin Kasırga This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-7871221/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 14 You are reading this latest preprint version Abstract Background: Brachymetacarpia and brachymetatarsia are rare congenital deformities that develop as a result of premature closure of the epiphyseal plates of the metacarpal and metatarsal bones. The deformity is most often noticed during childhood or adolescence and may be associated with certain syndromic or endocrinological conditions. In cases of brachymetacarpia, in addition to functional problems, cosmetic reasons such as disruption of the joint contour during fist formation or asymmetry of finger lengths constitute indications for surgical intervention. In brachymetatarsia, in addition to cosmetic concerns, transfer metatarsalgia, pain, callus formation, and difficulty in wearing shoes are the main reasons requiring surgical intervention. It most frequently involves a single bone, and multiple and bilateral forms have been reported only rarely in the literature. Materials and Methods: In this case report, a 22-year-old female patient is described who is characterized by bilateral shortening of the third metacarpal and fourth metatarsal bones, without any accompanying syndromic features or endocrinopathy. Results: Radiological examinations revealed marked symmetry, and no pathological findings were detected in laboratory tests. Surgical and conservative treatment options were evaluated; according to the patient’s preference, surgical intervention was planned for the hand deformity, while the foot deformity was managed conservatively. Conclusions: This case contributes to the literature not only because of its rare multiple and bilateral bone involvement but also by the presence of a family history. brachymetacarpia brachymetatarsia metacarpal shortening metatarsal shortening congenital deformity Figures Figure 1 Figure 2 Figure 3 Figure 4 INTRODUCTION Structural shortenings that occur as a result of premature closure of the epiphyseal plates during the development of the metacarpal and metatarsal bones are termed brachymetacarpia (BMC) and brachymetatarsia (BMT), respectively. These conditions are congenital and arise due to interruption or insufficiency of bone growth at certain stages of development ( 1 ). Although both anomalies are mostly asymptomatic, they attract clinical attention because of cosmetic concerns and functional disturbances ( 2 ). Brachymetacarpia most commonly involves the fourth and fifth metacarpal bones, whereas the most frequent form of brachymetatarsia is shortening of the fourth metatarsal bone ( 1 , 2 ). These anatomical shortenings not only lead to aesthetic abnormalities but may also cause decreased hand strength, visible finger shortening, and plantar pain or metatarsalgia in the feet due to altered load transfer ( 1 , 3 ). Brachymetacarpia and brachymetatarsia are not only structural anomalies but also appear among the clinical manifestations of certain systemic diseases. Several studies have reported that these bone shortenings may occur particularly in association with Turner syndrome, pseudohypoparathyroidism, Albright hereditary osteodystrophy (AHO), Down syndrome, and other genetic or endocrine disorders( 1 , 4 , 5 ). However, rare cases have also demonstrated that these anomalies can appear idiopathically, that is, without an underlying systemic or genetic cause ( 6 ). Diagnosis is clinical and is supported by plain radiography, computed tomography, or magnetic resonance imaging ( 2 ). In the majority of case reports published in the literature, brachymetacarpia or brachymetatarsia cases have been described as unilateral, single-bone involvement, or as multiple involvement limited to either metacarpal or metatarsal bones ( 6 – 9 ). In this case report, we describe an idiopathic case of bilateral brachymetacarpia–brachymetatarsia characterized by shortening of the third metacarpal and fourth metatarsal bones, without any accompanying genetic syndrome, metabolic disorder, or systemic disease. The case, which exhibited no functional impairment and was identified solely due to its distinctive aesthetic appearance, is presented to increase clinical awareness and contribute to the literature. CASE REPORT A 22-year-old, single, university graduate woman living with her family presented to the outpatient clinic with congenital deformities of the hands and feet. She reported that the deformities had become more noticeable over time and were particularly disturbing in terms of cosmetic appearance. Her socio-demographic history revealed no history of trauma, surgery, or chronic illness. Family history disclosed that only her brother had shortening of the fourth metatarsal bone in the right lower extremity. Physical examination revealed marked bilateral shortening of the third metacarpal and fourth metatarsal bones. The hand deformities caused cosmetic problems, particularly difficulty wearing rings, but daily hand function was preserved. The foot deformity occasionally caused localized pain over the metatarsophalangeal joint, especially during prolonged standing; however, this did not significantly limit the patient’s walking capacity or daily activities. Radiological evaluation demonstrated marked bilateral symmetrical shortening of the third metacarpal and fourth metatarsal bones. Laboratory investigations were within normal limits, and no abnormalities suggestive of endocrinological, metabolic, or genetic diseases were detected. Physical and laboratory evaluations for syndromic findings revealed no signs of systemic disorder. Based on the clinical and radiological data, the case was considered idiopathic bilateral brachymetacarpia–brachymetatarsia without any underlying systemic cause. During treatment planning, bone-lengthening surgery for the lower extremity was proposed, but the patient declined this operation. However, she expressed willingness to undergo surgical intervention for correction of the hand deformity. Psychosocial assessment revealed that the patient had been distressed about her appearance during childhood but had gradually adapted psychologically and was currently experiencing no significant adverse impact on her social life. In both hands, marked shortening of the third metacarpal bones results in depression at the level of the metacarpophalangeal joints of the middle fingers and asymmetry of finger lengths. These are characteristic findings of brachymetacarpia (Fig. 1 ). The arrows indicate the areas of brachymetacarpia. Radiographic examination reveals marked and symmetrical shortening of the third metacarpal bones in both hands. The normal parabolic configuration of the metacarpal arch is disrupted due to the proximal positioning of the third metacarpal head, resulting in asymmetrical shortening of the fingers. These findings represent the typical radiographic features of brachymetacarpia. In addition, the shape of the metacarpal diaphyses, the articular surfaces, and the metacarpophalangeal joint configuration are within normal limits, with no evidence of dislocation, subluxation, or joint degeneration. Cortical integrity is preserved, and bone density is normal. These findings support that the shortening is due to premature closure of the epiphyseal plate rather than a traumatic, inflammatory, or metabolic process (Fig. 2 ). In the dorsoplantar clinical view of the patient’s feet, the fourth toes in both feet are relatively short and elevated, with a noticeable gap between the adjacent toes and mild lateral deviation particularly in the first–third toes. This clinical appearance represents a typical manifestation of brachymetatarsia due to shortening of the fourth metatarsal bones. The arrows indicate the areas of brachymetatarsia (Fig. 3 ). In the dorsoplantar radiographic examination of the patient’s feet, there is symmetrical and marked shortening of the fourth metatarsal bones, disruption of the normal parabolic curve formed by the metatarsal heads, and irregularity at the level of the metatarsophalangeal joints. Bone density, articular surfaces, and cortical integrity are within normal limits, with no evidence of traumatic, inflammatory, or degenerative processes. When these radiological and clinical findings are evaluated together, they strongly support the diagnosis of idiopathic bilateral brachymetatarsia and demonstrate both the aesthetic and functional consequences of the deformity (Fig. 4 ). DISCUSSION Brachymetacarpia (BMC) and brachymetatarsia (BMT) are rare congenital deformities resulting from premature closure of the metacarpal and metatarsal epiphyseal plates. While they usually involve a single bone and are unilateral, reports of multiple and bilateral bone shortenings are very limited. In this case, we present an idiopathic form of brachymetacarpia–brachymetatarsia characterized by bilateral shortening of the third metacarpal and fourth metatarsal bones. This case is distinctive compared with previously reported cases in the literature due to its rare involvement pattern and the presence of a positive family history. Most cases of brachymetacarpia and brachymetatarsia are asymptomatic and primarily present for cosmetic concerns ( 1 , 2 ). In metatarsal shortening, altered load distribution may cause transfer metatarsalgia, plantar callus formation, and difficulties in shoe wear ( 3 ). Although hand deformities generally do not cause functional loss, grip strength may be reduced, and asymmetry in finger lengths may result in cosmetic problems. In the present case, the foot deformity led to pain during prolonged standing but caused only minimal functional limitation, while the hand deformity did not impair function but was cosmetically distressing to the patient. This highlights the clinical heterogeneity of the brachymetacarpia–brachymetatarsia spectrum. As frequently reported in the literature, fourth metatarsal shortening is accompanied by a noticeable gap between adjacent toes and mild lateral deviation of the first–third toes ( 3 , 7 ). These findings were also prominent in our patient and, when assessed alongside disruption of the normal parabolic curve of the metatarsal heads, helped to differentiate brachymetatarsia from traumatic or degenerative deformities. This clinical and radiographic feature is an important clue supporting the congenital and symmetric nature of the deformity. Radiological evaluation revealed disruption of the curved alignment known as the “metatarsal parabola,” marked shortening of the fourth metatarsal bones, and mild lateral deviation of the first–third toes. Similarly, the metacarpal index (the relative length of the third metacarpal head to adjacent bones) was reduced. These radiographic findings reflect the typical appearance of brachymetatarsia and provide important diagnostic clues to differentiate it from traumatic or degenerative deformities ( 3 , 7 ). Anatomically, whereas the epiphyseal plates of the metacarpal and metatarsal bones normally close at around 14–16 years of age, the observed shortening in this case is consistent with premature closure, supporting the congenital pathogenesis of epiphyseal plate abnormalities. Reports of multiple and bilateral involvement are scarce. Libianto et al. reported successful lengthening with an external fixator in a case of multiple metatarsal shortening( 7 ). Suresh et al. documented functional and cosmetic improvement after surgical treatment in bilateral metatarsal shortening cases ( 9 ). However, most of these reports are either syndromic or involve only a single bone type ( 4 , 5 ). Our case represents one of the rare idiopathic examples with simultaneous, symmetric shortening of both metacarpal and metatarsal bones in the absence of syndromic or endocrine causes. Furthermore, the presence of a similar deformity in the family history strengthens the possibility of hereditary transmission and provides insights for future research on the role of genetic factors. Management should be individualized based on the patient’s symptoms, cosmetic expectations, and functional status. The literature describes both surgical options (lengthening with bone grafting, gradual distraction osteogenesis, etc.) and conservative approaches (orthotic support, activity modification) for brachymetacarpia and brachymetatarsia ( 1 , 2 ).In our case, the patient declined lower-extremity surgery but was amenable to surgical intervention for the hand deformity. This underscores how patient priorities significantly shape treatment planning. The patient’s choice of hand surgery for cosmetic reasons despite minimal symptomatology further highlights the importance of aesthetic expectations in the management of brachymetacarpia–brachymetatarsia. LIMITATIONS This case has three main limitations. First, as it is based on a single patient, the generalizability of the findings is limited. Second, although a positive family history was present, no genetic analysis was performed, which prevents confirmation of hereditary transmission. Third, while laboratory investigations were within normal limits, the absence of more comprehensive endocrinological and metabolic assessments means that all potential underlying causes could not be fully excluded. CONCLUSIONS This case represents the rare idiopathic, multiple, and bilateral form of brachymetacarpia and brachymetatarsia. The findings emphasize the need for careful exclusion of syndromic and systemic causes in such deformities. Individualizing treatment plans according to patient symptoms, functional status, and cosmetic expectations is crucial. The presence of a similar deformity in the family history highlights the necessity of further studies to clarify the role of genetic factors. By its unique features, this case contributes to deepening the current understanding of the clinical and genetic aspects of brachymetacarpia–brachymetatarsia and increases awareness of its rare forms. Declarations ARTICLE INFORMATION AND DECLARATIONS Ethics statement The patient provided written informed consent for the publication of this case report and the accompanying images. The study was conducted in accordance with ethical principles, ensuring the confidentiality of the patient’s personal data and obtaining voluntary consent. Publication Consent Statement Written informed consent was obtained from the patient for publication of this case report and any accompanying images. Authors’ statement AH: Conception, clinical evaluation, data collection, and drafting of the manuscript. ZK: Literature review, data interpretation, critical revision, and final approval of the manuscript. Acknowledgements The authors thank the patient for her valuable contributions to this case report. Funding This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors. Conflict of Interest The authors declare no conflict of interest. Availability of Data and Materials The data generated and analyzed during this study are available from the corresponding author upon reasonable request. Written informed consent was obtained from the patient for the use of clinical data and images included in this case report. References Barik S, Farr S. Brachymetacarpia and brachymetatarsia: do we need to operate?. EFORT Open Reviews, 2021, 6.1: 15-23. doi: 10.1302/2058-5241.6.200087 Sabry AO, Hermena S. Brachymetatarsia. StatPearls, Treasure Island (FL): StatPearls Publishing, 2025. (Bookshelf ID: NBK610683, PMID: 39808058 ) Sepulveda M, Orellana G, Sanchez F, et al. Brachymetatarsia. EFORT Open Reviews, 2024, 9(4), 235-240. doi: 10.1530/EOR-23-0011 Cho YJ, Lee JY, Lee WG, et al. Brachymetacarpia and Brachymetatarsia in Patients with Multiple Hereditary Exostosis. Clin Orthop Surg. 2020 Dec;12(4):549-553. doi: 10.4055/cios19121. (PMID: 33274034; PMCID: PMC7683195) Karunathilake P, Rajaratnam A, Kularatne WKS. A Rare Observation of Brachymetacarpia and Brachymetatarsia in a Patient with Primary Idiopathic Hypoparathyroidism. Case Rep Endocrinol. 2023 Feb 28;2023:4149677. doi: 10.1155/2023/4149677. (PMID: 36895827; PMCID: PMC9991468) Nkosi CS, Manaka KJ, Ismail AY, et al. Bilateral symmetrical brachymetacarpia of the ring fingers: a case report. Pan Afr Med J. 2025 Apr 23;50:108. doi: 10.11604/pamj.2025.50.108.41420. (PMID: 40656142; PMCID: PMC12245643) Libianto R, Wu KH, Devery S, et al. KBG syndrome presenting with brachydactyly type E. Bone. 2019 Jun;123:18-22. doi: 10.1016/j.bone.2019.03.012. (PMID: 30877071) Norliyana M, Yazid MB, Muhaimin AA. Bilateral brachymetatarsia: A rare case report. Med Health (Kuala Lumpur). 2018;13(1):279-285. doi: 10.17576/MH.2018.1301.30 Suresh SS, Abraham R, Ravi P. Isolated symmetrical brachymetacarpia of the thumb--case report. Hand (N Y). 2009 Dec;4(4):424-6. doi: 10.1007/s11552-009-9185-8. (PMID: 19319609; PMCID: PMC2787216) Additional Declarations No competing interests reported. Supplementary Files CAREchecklist.docx Cite Share Download PDF Status: Under Review Version 1 posted Editorial decision: Revision requested 23 Nov, 2025 Reviews received at journal 21 Nov, 2025 Reviews received at journal 20 Nov, 2025 Reviews received at journal 19 Nov, 2025 Reviewers agreed at journal 12 Nov, 2025 Reviews received at journal 10 Nov, 2025 Reviewers agreed at journal 10 Nov, 2025 Reviewers agreed at journal 09 Nov, 2025 Reviewers agreed at journal 09 Nov, 2025 Reviewers invited by journal 09 Nov, 2025 Editor invited by journal 04 Nov, 2025 Editor assigned by journal 27 Oct, 2025 Submission checks completed at journal 26 Oct, 2025 First submitted to journal 26 Oct, 2025 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-7871221","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":545343090,"identity":"8e0fdee1-68c9-4bc3-9c87-d5198c33cbbc","order_by":0,"name":"Abdulmetin Hartavi","email":"","orcid":"","institution":"Kilis Prof. Dr. Alaaddin Yavaşça Devlet Hastanesi","correspondingAuthor":false,"prefix":"","firstName":"Abdulmetin","middleName":"","lastName":"Hartavi","suffix":""},{"id":545343091,"identity":"5de17705-f0aa-42aa-9659-43472c152745","order_by":1,"name":"Zeynettin Kasırga","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAA9UlEQVRIie3PMWvCQBjG8UcCuhxkvRCIX+HAXb/KFSEuGRwFIY2LWcTZ0k/RvcMbAmaxdHWMCOnioFuRDF6CGc11FHp/CDxDfuENYDI9YVw9VK/eEpSLasm/ErYFyYaQhtyX33xfQ5w4O6Sz6xD9t+KF5DSE3QuEdfl8TFwWiORrPUbn3Sd1WApndRKg4jHxECBZrCxY7iRShCD2gSItl3n2T67IK7pOVpEQIx1xuRRJ9JuC8W51mAXBNcTZnESyiDLGmS+rf2F8V0xp10L49+R4icq514+3g/O5DD07Hn/ksxZS11mCNbseOqAq9a+YTCbTP+4Gp7lXZgj5B9YAAAAASUVORK5CYII=","orcid":"","institution":"Kilis 7 Aralık University","correspondingAuthor":true,"prefix":"","firstName":"Zeynettin","middleName":"","lastName":"Kasırga","suffix":""}],"badges":[],"createdAt":"2025-10-15 19:23:21","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-7871221/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-7871221/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":96285041,"identity":"4c9ce907-b62c-404a-ae6f-39ce383c53d0","added_by":"auto","created_at":"2025-11-19 11:55:53","extension":"docx","order_by":0,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":4797839,"visible":true,"origin":"","legend":"","description":"","filename":"RevisedIdiopathicBilateralBrachymetacarpiaBrachymetatarsiawithThirdMetacarpalandFourthMetatarsalInvolvement.docx","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/91f50690186a827ed55f8e9d.docx"},{"id":96363406,"identity":"153ff60a-13db-4bf1-b08d-8a04a2c053c2","added_by":"auto","created_at":"2025-11-20 10:06:41","extension":"json","order_by":1,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":4634,"visible":true,"origin":"","legend":"","description":"","filename":"2c1fae2292674b70860b89a4f2153776.json","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/09bc48c4196436aa39e29c2a.json"},{"id":96285048,"identity":"ff4a7d6f-50e3-41b6-b081-50402b40fe74","added_by":"auto","created_at":"2025-11-19 11:55:53","extension":"docx","order_by":2,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":106696,"visible":true,"origin":"","legend":"","description":"","filename":"CAREchecklist.docx","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/d785706857d8463742d1c916.docx"},{"id":96364285,"identity":"3338e5ff-96ab-4325-b301-b1771676c634","added_by":"auto","created_at":"2025-11-20 10:09:09","extension":"xml","order_by":3,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":40471,"visible":true,"origin":"","legend":"","description":"","filename":"2c1fae2292674b70860b89a4f21537761enriched.xml","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/fd04f3993bd2f41fd72531db.xml"},{"id":96285046,"identity":"d2522775-bbfd-4b5c-81b4-9a6aa72e9e34","added_by":"auto","created_at":"2025-11-19 11:55:53","extension":"png","order_by":4,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":1124258,"visible":true,"origin":"","legend":"","description":"","filename":"floatimage1.png","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/94674077f06861ba4aa61a2c.png"},{"id":96365693,"identity":"eea6a9cd-946a-4dc6-92d1-d5e4b158424f","added_by":"auto","created_at":"2025-11-20 10:10:42","extension":"png","order_by":5,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":1328011,"visible":true,"origin":"","legend":"","description":"","filename":"floatimage2.png","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/1cb0f07b6acf8d466947072c.png"},{"id":96285050,"identity":"088b4856-b521-4d6c-a9cc-74107cb61be3","added_by":"auto","created_at":"2025-11-19 11:55:53","extension":"png","order_by":6,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":1057625,"visible":true,"origin":"","legend":"","description":"","filename":"floatimage3.png","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/465c8f31ae513c0ea481e556.png"},{"id":96365020,"identity":"75b53d07-c90c-4dd9-98ad-d52cec81f903","added_by":"auto","created_at":"2025-11-20 10:09:56","extension":"png","order_by":7,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":1229263,"visible":true,"origin":"","legend":"","description":"","filename":"floatimage4.png","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/6602a034ce93620ee1e61377.png"},{"id":96363661,"identity":"59df909c-f37b-4833-a780-d9f2d1e5e812","added_by":"auto","created_at":"2025-11-20 10:07:39","extension":"png","order_by":8,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":159462,"visible":true,"origin":"","legend":"","description":"","filename":"Onlinefloatimage1.png","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/a1ba863771f6bab0514c94cd.png"},{"id":96285053,"identity":"eca71032-fd12-42e3-8b77-498f3d2ac934","added_by":"auto","created_at":"2025-11-19 11:55:53","extension":"png","order_by":9,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":173542,"visible":true,"origin":"","legend":"","description":"","filename":"Onlinefloatimage2.png","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/de6daa3d0c54221d1afbf00c.png"},{"id":96285054,"identity":"92af282a-76e1-4bfe-8672-f5668ac28149","added_by":"auto","created_at":"2025-11-19 11:55:53","extension":"png","order_by":10,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":147016,"visible":true,"origin":"","legend":"","description":"","filename":"Onlinefloatimage3.png","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/41aadf2febbab2cd4d77c97b.png"},{"id":96285060,"identity":"639682b0-ac88-4a3d-a040-f9f9c64d54ff","added_by":"auto","created_at":"2025-11-19 11:55:53","extension":"png","order_by":11,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":170650,"visible":true,"origin":"","legend":"","description":"","filename":"Onlinefloatimage4.png","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/530059a0a98c7148a458ebfb.png"},{"id":96285057,"identity":"f1f0477e-c2e5-4fa9-8102-b895e91de0e6","added_by":"auto","created_at":"2025-11-19 11:55:53","extension":"xml","order_by":12,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":38117,"visible":true,"origin":"","legend":"","description":"","filename":"2c1fae2292674b70860b89a4f21537761structuring.xml","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/b8dcef18d9db58b5a5faf482.xml"},{"id":96285059,"identity":"91d660ab-619f-463f-85f3-356f1ff09033","added_by":"auto","created_at":"2025-11-19 11:55:53","extension":"html","order_by":13,"title":"","display":"","copyAsset":false,"role":"acdc-reference","size":46153,"visible":true,"origin":"","legend":"","description":"","filename":"earlyproof.html","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/102840610a0f755f8e830205.html"},{"id":96285036,"identity":"6f864d17-66fe-4f02-8cd3-2b67fbc8085a","added_by":"auto","created_at":"2025-11-19 11:55:52","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":438051,"visible":true,"origin":"","legend":"\u003cp\u003eBilateral dorsopalmar view of the patient’s hands.\u003c/p\u003e","description":"","filename":"1.png","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/dbc8e5ac3e7f9b46ad55d567.png"},{"id":96285034,"identity":"8660bbe0-ed0a-4e66-b723-06fdbb252003","added_by":"auto","created_at":"2025-11-19 11:55:52","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":458424,"visible":true,"origin":"","legend":"\u003cp\u003eBilateral hand radiographs of the patient.\u003c/p\u003e","description":"","filename":"2.png","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/51062f7f5835d63872d77745.png"},{"id":96285042,"identity":"4f8fd058-2aab-4a73-a23f-dc0c1e0c5c58","added_by":"auto","created_at":"2025-11-19 11:55:53","extension":"png","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":313553,"visible":true,"origin":"","legend":"\u003cp\u003eBilateral dorsoplantar view of the patient’s feet.\u003c/p\u003e","description":"","filename":"3.png","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/9c93d58900365a7dac4e19e9.png"},{"id":96364883,"identity":"d4b0d83c-93b2-43e5-a0b0-a1a1d240f4e6","added_by":"auto","created_at":"2025-11-20 10:09:45","extension":"png","order_by":4,"title":"Figure 4","display":"","copyAsset":false,"role":"figure","size":368342,"visible":true,"origin":"","legend":"\u003cp\u003eBilateral dorsoplantar radiographs of the patient’s feet.\u003c/p\u003e","description":"","filename":"4.png","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/1c88d2f856b4b4c1333586cd.png"},{"id":96708267,"identity":"f8505f5a-2ac8-497f-9312-062ab9150820","added_by":"auto","created_at":"2025-11-25 09:59:55","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":2533506,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/3912048e-b479-46c4-8a87-cdd1bf3611e5.pdf"},{"id":96285033,"identity":"5b275deb-78e9-4590-bce6-198d63fdc1bf","added_by":"auto","created_at":"2025-11-19 11:55:52","extension":"docx","order_by":0,"title":"","display":"","copyAsset":false,"role":"supplement","size":106696,"visible":true,"origin":"","legend":"","description":"","filename":"CAREchecklist.docx","url":"https://assets-eu.researchsquare.com/files/rs-7871221/v1/4c5e04ef86683b5c1a2c8c30.docx"}],"financialInterests":"No competing interests reported.","formattedTitle":"Idiopathic Bilateral Brachymetacarpia–Brachymetatarsia with Third Metacarpal and Fourth Metatarsal Involvement- Case Report","fulltext":[{"header":"INTRODUCTION","content":"\u003cp\u003eStructural shortenings that occur as a result of premature closure of the epiphyseal plates during the development of the metacarpal and metatarsal bones are termed brachymetacarpia (BMC) and brachymetatarsia (BMT), respectively. These conditions are congenital and arise due to interruption or insufficiency of bone growth at certain stages of development (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e). Although both anomalies are mostly asymptomatic, they attract clinical attention because of cosmetic concerns and functional disturbances (\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eBrachymetacarpia most commonly involves the fourth and fifth metacarpal bones, whereas the most frequent form of brachymetatarsia is shortening of the fourth metatarsal bone (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e). These anatomical shortenings not only lead to aesthetic abnormalities but may also cause decreased hand strength, visible finger shortening, and plantar pain or metatarsalgia in the feet due to altered load transfer (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eBrachymetacarpia and brachymetatarsia are not only structural anomalies but also appear among the clinical manifestations of certain systemic diseases. Several studies have reported that these bone shortenings may occur particularly in association with Turner syndrome, pseudohypoparathyroidism, Albright hereditary osteodystrophy (AHO), Down syndrome, and other genetic or endocrine disorders(\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e, \u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e). However, rare cases have also demonstrated that these anomalies can appear idiopathically, that is, without an underlying systemic or genetic cause (\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e). Diagnosis is clinical and is supported by plain radiography, computed tomography, or magnetic resonance imaging (\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eIn the majority of case reports published in the literature, brachymetacarpia or brachymetatarsia cases have been described as unilateral, single-bone involvement, or as multiple involvement limited to either metacarpal or metatarsal bones (\u003cspan additionalcitationids=\"CR7 CR8\" citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e).\u003c/p\u003e\u003cp\u003eIn this case report, we describe an idiopathic case of bilateral brachymetacarpia\u0026ndash;brachymetatarsia characterized by shortening of the third metacarpal and fourth metatarsal bones, without any accompanying genetic syndrome, metabolic disorder, or systemic disease. The case, which exhibited no functional impairment and was identified solely due to its distinctive aesthetic appearance, is presented to increase clinical awareness and contribute to the literature.\u003c/p\u003e"},{"header":"CASE REPORT","content":"\u003cp\u003eA 22-year-old, single, university graduate woman living with her family presented to the outpatient clinic with congenital deformities of the hands and feet. She reported that the deformities had become more noticeable over time and were particularly disturbing in terms of cosmetic appearance. Her socio-demographic history revealed no history of trauma, surgery, or chronic illness. Family history disclosed that only her brother had shortening of the fourth metatarsal bone in the right lower extremity.\u003c/p\u003e\u003cp\u003ePhysical examination revealed marked bilateral shortening of the third metacarpal and fourth metatarsal bones. The hand deformities caused cosmetic problems, particularly difficulty wearing rings, but daily hand function was preserved. The foot deformity occasionally caused localized pain over the metatarsophalangeal joint, especially during prolonged standing; however, this did not significantly limit the patient\u0026rsquo;s walking capacity or daily activities.\u003c/p\u003e\u003cp\u003eRadiological evaluation demonstrated marked bilateral symmetrical shortening of the third metacarpal and fourth metatarsal bones. Laboratory investigations were within normal limits, and no abnormalities suggestive of endocrinological, metabolic, or genetic diseases were detected. Physical and laboratory evaluations for syndromic findings revealed no signs of systemic disorder. Based on the clinical and radiological data, the case was considered idiopathic bilateral brachymetacarpia\u0026ndash;brachymetatarsia without any underlying systemic cause.\u003c/p\u003e\u003cp\u003eDuring treatment planning, bone-lengthening surgery for the lower extremity was proposed, but the patient declined this operation. However, she expressed willingness to undergo surgical intervention for correction of the hand deformity. Psychosocial assessment revealed that the patient had been distressed about her appearance during childhood but had gradually adapted psychologically and was currently experiencing no significant adverse impact on her social life.\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eIn both hands, marked shortening of the third metacarpal bones results in depression at the level of the metacarpophalangeal joints of the middle fingers and asymmetry of finger lengths. These are characteristic findings of brachymetacarpia (Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e). The arrows indicate the areas of brachymetacarpia.\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eRadiographic examination reveals marked and symmetrical shortening of the third metacarpal bones in both hands. The normal parabolic configuration of the metacarpal arch is disrupted due to the proximal positioning of the third metacarpal head, resulting in asymmetrical shortening of the fingers. These findings represent the typical radiographic features of brachymetacarpia. In addition, the shape of the metacarpal diaphyses, the articular surfaces, and the metacarpophalangeal joint configuration are within normal limits, with no evidence of dislocation, subluxation, or joint degeneration. Cortical integrity is preserved, and bone density is normal. These findings support that the shortening is due to premature closure of the epiphyseal plate rather than a traumatic, inflammatory, or metabolic process (Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e2\u003c/span\u003e).\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eIn the dorsoplantar clinical view of the patient\u0026rsquo;s feet, the fourth toes in both feet are relatively short and elevated, with a noticeable gap between the adjacent toes and mild lateral deviation particularly in the first\u0026ndash;third toes. This clinical appearance represents a typical manifestation of brachymetatarsia due to shortening of the fourth metatarsal bones. The arrows indicate the areas of brachymetatarsia (Fig.\u0026nbsp;\u003cspan refid=\"Fig3\" class=\"InternalRef\"\u003e3\u003c/span\u003e).\u003c/p\u003e\u003cp\u003e\u003c/p\u003e\u003cp\u003eIn the dorsoplantar radiographic examination of the patient\u0026rsquo;s feet, there is symmetrical and marked shortening of the fourth metatarsal bones, disruption of the normal parabolic curve formed by the metatarsal heads, and irregularity at the level of the metatarsophalangeal joints. Bone density, articular surfaces, and cortical integrity are within normal limits, with no evidence of traumatic, inflammatory, or degenerative processes. When these radiological and clinical findings are evaluated together, they strongly support the diagnosis of idiopathic bilateral brachymetatarsia and demonstrate both the aesthetic and functional consequences of the deformity (Fig.\u0026nbsp;\u003cspan refid=\"Fig4\" class=\"InternalRef\"\u003e4\u003c/span\u003e).\u003c/p\u003e"},{"header":"DISCUSSION","content":"\u003cp\u003eBrachymetacarpia (BMC) and brachymetatarsia (BMT) are rare congenital deformities resulting from premature closure of the metacarpal and metatarsal epiphyseal plates. While they usually involve a single bone and are unilateral, reports of multiple and bilateral bone shortenings are very limited. In this case, we present an idiopathic form of brachymetacarpia\u0026ndash;brachymetatarsia characterized by bilateral shortening of the third metacarpal and fourth metatarsal bones. This case is distinctive compared with previously reported cases in the literature due to its rare involvement pattern and the presence of a positive family history.\u003c/p\u003e\u003cp\u003eMost cases of brachymetacarpia and brachymetatarsia are asymptomatic and primarily present for cosmetic concerns (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e). In metatarsal shortening, altered load distribution may cause transfer metatarsalgia, plantar callus formation, and difficulties in shoe wear (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e). Although hand deformities generally do not cause functional loss, grip strength may be reduced, and asymmetry in finger lengths may result in cosmetic problems. In the present case, the foot deformity led to pain during prolonged standing but caused only minimal functional limitation, while the hand deformity did not impair function but was cosmetically distressing to the patient. This highlights the clinical heterogeneity of the brachymetacarpia\u0026ndash;brachymetatarsia spectrum.\u003c/p\u003e\u003cp\u003eAs frequently reported in the literature, fourth metatarsal shortening is accompanied by a noticeable gap between adjacent toes and mild lateral deviation of the first\u0026ndash;third toes (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e, \u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e). These findings were also prominent in our patient and, when assessed alongside disruption of the normal parabolic curve of the metatarsal heads, helped to differentiate brachymetatarsia from traumatic or degenerative deformities. This clinical and radiographic feature is an important clue supporting the congenital and symmetric nature of the deformity.\u003c/p\u003e\u003cp\u003eRadiological evaluation revealed disruption of the curved alignment known as the \u0026ldquo;metatarsal parabola,\u0026rdquo; marked shortening of the fourth metatarsal bones, and mild lateral deviation of the first\u0026ndash;third toes. Similarly, the metacarpal index (the relative length of the third metacarpal head to adjacent bones) was reduced. These radiographic findings reflect the typical appearance of brachymetatarsia and provide important diagnostic clues to differentiate it from traumatic or degenerative deformities (\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e, \u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e). Anatomically, whereas the epiphyseal plates of the metacarpal and metatarsal bones normally close at around 14\u0026ndash;16 years of age, the observed shortening in this case is consistent with premature closure, supporting the congenital pathogenesis of epiphyseal plate abnormalities.\u003c/p\u003e\u003cp\u003eReports of multiple and bilateral involvement are scarce. Libianto et al. reported successful lengthening with an external fixator in a case of multiple metatarsal shortening(\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e). Suresh et al. documented functional and cosmetic improvement after surgical treatment in bilateral metatarsal shortening cases (\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e). However, most of these reports are either syndromic or involve only a single bone type (\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e, \u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e). Our case represents one of the rare idiopathic examples with simultaneous, symmetric shortening of both metacarpal and metatarsal bones in the absence of syndromic or endocrine causes. Furthermore, the presence of a similar deformity in the family history strengthens the possibility of hereditary transmission and provides insights for future research on the role of genetic factors.\u003c/p\u003e\u003cp\u003eManagement should be individualized based on the patient\u0026rsquo;s symptoms, cosmetic expectations, and functional status. The literature describes both surgical options (lengthening with bone grafting, gradual distraction osteogenesis, etc.) and conservative approaches (orthotic support, activity modification) for brachymetacarpia and brachymetatarsia (\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e).In our case, the patient declined lower-extremity surgery but was amenable to surgical intervention for the hand deformity. This underscores how patient priorities significantly shape treatment planning. The patient\u0026rsquo;s choice of hand surgery for cosmetic reasons despite minimal symptomatology further highlights the importance of aesthetic expectations in the management of brachymetacarpia\u0026ndash;brachymetatarsia.\u003c/p\u003e"},{"header":"LIMITATIONS","content":"\u003cp\u003eThis case has three main limitations. First, as it is based on a single patient, the generalizability of the findings is limited. Second, although a positive family history was present, no genetic analysis was performed, which prevents confirmation of hereditary transmission. Third, while laboratory investigations were within normal limits, the absence of more comprehensive endocrinological and metabolic assessments means that all potential underlying causes could not be fully excluded.\u003c/p\u003e"},{"header":"CONCLUSIONS","content":"\u003cp\u003eThis case represents the rare idiopathic, multiple, and bilateral form of brachymetacarpia and brachymetatarsia. The findings emphasize the need for careful exclusion of syndromic and systemic causes in such deformities. Individualizing treatment plans according to patient symptoms, functional status, and cosmetic expectations is crucial. The presence of a similar deformity in the family history highlights the necessity of further studies to clarify the role of genetic factors. By its unique features, this case contributes to deepening the current understanding of the clinical and genetic aspects of brachymetacarpia–brachymetatarsia and increases awareness of its rare forms.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eARTICLE INFORMATION AND DECLARATIONS\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eEthics statement\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe patient provided written informed consent for the publication of this case report and the accompanying images. The study was conducted in accordance with ethical principles, ensuring the confidentiality of the patient\u0026rsquo;s personal data and obtaining voluntary consent.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003ePublication Consent Statement\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eWritten informed consent was obtained from the patient for publication of this case report and any accompanying images.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthors\u0026rsquo; statement\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAH: Conception, clinical evaluation, data collection, and drafting of the manuscript.\u003c/p\u003e\n\u003cp\u003eZK: Literature review, data interpretation, critical revision, and final approval of the manuscript.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAcknowledgements\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors thank the patient for her valuable contributions to this case report.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConflict of Interest\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declare no conflict of interest.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAvailability of Data and Materials\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe data generated and analyzed during this study are available from the corresponding author upon reasonable request. Written informed consent was obtained from the patient for the use of clinical data and images included in this case report.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eBarik S, Farr S. Brachymetacarpia and brachymetatarsia: do we need to operate?. EFORT Open Reviews, 2021, 6.1: 15-23. doi: 10.1302/2058-5241.6.200087\u003c/li\u003e\n\u003cli\u003eSabry AO, Hermena S. Brachymetatarsia. StatPearls, Treasure Island (FL): StatPearls Publishing, 2025. (Bookshelf ID: NBK610683, PMID: 39808058 )\u003c/li\u003e\n\u003cli\u003eSepulveda M, Orellana G, Sanchez F, et al. Brachymetatarsia. EFORT Open Reviews, 2024, 9(4), 235-240. doi: 10.1530/EOR-23-0011\u003c/li\u003e\n\u003cli\u003eCho YJ, Lee JY, Lee WG, et al. Brachymetacarpia and Brachymetatarsia in Patients with Multiple Hereditary Exostosis. Clin Orthop Surg. 2020 Dec;12(4):549-553. doi: 10.4055/cios19121. (PMID: 33274034; PMCID: PMC7683195)\u003c/li\u003e\n\u003cli\u003eKarunathilake P, Rajaratnam A, Kularatne WKS. A Rare Observation of Brachymetacarpia and Brachymetatarsia in a Patient with Primary Idiopathic Hypoparathyroidism. Case Rep Endocrinol. 2023 Feb 28;2023:4149677. doi: 10.1155/2023/4149677. (PMID: 36895827; PMCID: PMC9991468)\u003c/li\u003e\n\u003cli\u003eNkosi CS, Manaka KJ, Ismail AY, et al. Bilateral symmetrical brachymetacarpia of the ring fingers: a case report. Pan Afr Med J. 2025 Apr 23;50:108. doi: 10.11604/pamj.2025.50.108.41420. (PMID: 40656142; PMCID: PMC12245643)\u003c/li\u003e\n\u003cli\u003eLibianto R, Wu KH, Devery S, et al. KBG syndrome presenting with brachydactyly type E. Bone. 2019 Jun;123:18-22. doi: 10.1016/j.bone.2019.03.012. (PMID: 30877071)\u003c/li\u003e\n\u003cli\u003eNorliyana M, Yazid MB, Muhaimin AA. Bilateral brachymetatarsia: A rare case report. Med Health (Kuala Lumpur). 2018;13(1):279-285. doi: 10.17576/MH.2018.1301.30\u003c/li\u003e\n\u003cli\u003eSuresh SS, Abraham R, Ravi P. Isolated symmetrical brachymetacarpia of the thumb--case report. Hand (N Y). 2009 Dec;4(4):424-6. doi: 10.1007/s11552-009-9185-8. (PMID: 19319609; PMCID: PMC2787216)\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"bmc-musculoskeletal-disorders","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"bmsd","sideBox":"Learn more about [BMC Musculoskeletal Disorders](http://bmcmusculoskeletdisord.biomedcentral.com/)","snPcode":"","submissionUrl":"https://author-welcome.nature.com/12891","title":"BMC Musculoskeletal Disorders","twitterHandle":"BMC_series","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"brachymetacarpia, brachymetatarsia, metacarpal shortening, metatarsal shortening, congenital deformity","lastPublishedDoi":"10.21203/rs.3.rs-7871221/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-7871221/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003eBackground: \u003c/strong\u003eBrachymetacarpia and brachymetatarsia are rare congenital deformities that develop as a result of premature closure of the epiphyseal plates of the metacarpal and metatarsal bones. The deformity is most often noticed during childhood or adolescence and may be associated with certain syndromic or endocrinological conditions. In cases of brachymetacarpia, in addition to functional problems, cosmetic reasons such as disruption of the joint contour during fist formation or asymmetry of finger lengths constitute indications for surgical intervention. In brachymetatarsia, in addition to cosmetic concerns, transfer metatarsalgia, pain, callus formation, and difficulty in wearing shoes are the main reasons requiring surgical intervention. It most frequently involves a single bone, and multiple and bilateral forms have been reported only rarely in the literature.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eMaterials and Methods: \u003c/strong\u003eIn this case report, a 22-year-old female patient is described who is characterized by bilateral shortening of the third metacarpal and fourth metatarsal bones, without any accompanying syndromic features or endocrinopathy.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eResults: \u003c/strong\u003eRadiological examinations revealed marked symmetry, and no pathological findings were detected in laboratory tests. Surgical and conservative treatment options were evaluated; according to the patient’s preference, surgical intervention was planned for the hand deformity, while the foot deformity was managed conservatively.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConclusions: \u003c/strong\u003eThis case contributes to the literature not only because of its rare multiple and bilateral bone involvement but also by the presence of a family history.\u003c/p\u003e","manuscriptTitle":"Idiopathic Bilateral Brachymetacarpia–Brachymetatarsia with Third Metacarpal and Fourth Metatarsal Involvement- Case Report","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-11-19 11:55:48","doi":"10.21203/rs.3.rs-7871221/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2025-11-23T20:28:12+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-11-21T15:24:36+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-11-20T05:59:44+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-11-19T12:18:25+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"206546170280133493564860733739833308797","date":"2025-11-12T10:45:58+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-11-11T00:22:13+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"23694008793175861697514624311930918454","date":"2025-11-11T00:08:07+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"140764891410061685133103967229760379283","date":"2025-11-10T01:37:06+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"72616007627333195800956750770742662587","date":"2025-11-10T01:05:50+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2025-11-10T00:20:22+00:00","index":"","fulltext":""},{"type":"editorInvited","content":"","date":"2025-11-04T05:23:33+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2025-10-27T05:03:29+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2025-10-26T21:21:07+00:00","index":"","fulltext":""},{"type":"submitted","content":"BMC Musculoskeletal Disorders","date":"2025-10-26T21:18:47+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"bmc-musculoskeletal-disorders","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"bmsd","sideBox":"Learn more about [BMC Musculoskeletal Disorders](http://bmcmusculoskeletdisord.biomedcentral.com/)","snPcode":"","submissionUrl":"https://author-welcome.nature.com/12891","title":"BMC Musculoskeletal Disorders","twitterHandle":"BMC_series","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"e626d277-8096-4355-af5e-99a769de9bd4","owner":[],"postedDate":"November 19th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"under-review","subjectAreas":[],"tags":[],"updatedAt":"2026-01-05T05:39:41+00:00","versionOfRecord":[],"versionCreatedAt":"2025-11-19 11:55:48","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-7871221","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-7871221","identity":"rs-7871221","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}

Text is read by the "Ask this paper" AI Q&A widget below. 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.

My notes (saved in your browser only)

Ask this paper AI returns verbatim quotes from the full text · source: preprint-html

Answers must be backed by verbatim quotes from this paper's full text. Hallucinated quotes are dropped automatically; if no verbatim passage answers the question, we say so. How this works

Citation neighborhood (no data yet)

We don't have any in-corpus citations linked to this paper yet. This is a recent paper (2025) — citers typically take a year or two to land, and the OpenAlex reference graph may still be filling in.

Source provenance

europepmc
last seen: 2026-05-20T01:45:00.602351+00:00
unpaywall
last seen: 2026-05-22T02:00:06.705733+00:00
License: CC-BY-4.0