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International Journal of Surgery Case Reports logoLink to International Journal of Surgery Case Reports
. 2025 Oct 25;137:112077. doi: 10.1016/j.ijscr.2025.112077

Clinical diagnosis and challenges in management of Osteogenesis Imperfecta in a resource-limited setting — A case report and review of literature

Dinesh Kumar Pandit 1,1, Samagya Paudel 1,⁎,1, Hem Shankar Yadav 1, Kshitiz Shrestha 1, Roshika Ghatani 1, Pia Rai 1
PMCID: PMC12596983  PMID: 41541169

Abstract

Introduction

Pediatric bone fragility presents a significant diagnostic challenge, often leading to misdiagnosis between conditions like rickets and Osteogenesis Imperfecta (OI). Accurate differentiation is crucial for effective management due to the varying underlying pathophysiologies.

Case presentation

This report details the diagnostic journey of a 10-year-old male who initially presented with recurrent femoral shaft fractures and was misdiagnosed with rickets. Despite conventional treatment, persistent symptoms and the emergence of classic OI features, such as grey sclera and dentinogenesis imperfecta, prompted re-evaluation and ultimately led to a diagnosis of Osteogenesis Imperfecta Type I.

Discussion

This case highlights the complexities of diagnosing rare genetic bone disorders that mimic more common conditions. Challenges include limited access to advanced diagnostics like genetic testing and the need for a high index of suspicion in atypical presentations. The importance of a multidisciplinary approach to OI management and early diagnosis for patient and family support is emphasized. The case also highlights the necessity of thoroughly investigating the underlying causes of pathological fractures.

Conclusion

This case report illustrates the diagnostic pitfalls in pediatric bone fragility and reinforces the need for comprehensive clinical assessment and appropriate investigations to avoid misdiagnosis of conditions like OI. Early and accurate diagnosis is crucial for effective management and improved patient outcomes.

Keywords: Bone fragility, Case report, Diagnostic challenge, Osteogenesis imperfecta, Misdiagnosis

Highlights

  • •

    Pediatric bone fragility poses diagnostic challenges due to overlapping features of OI and rickets. A child with recurrent fractures was misdiagnosed as having rickets, underscoring diagnostic difficulty.

  • •

    Re-evaluation reled OI Type I after persistent symptoms and new findings. Late signs like grey sclera, dentinogenesis imperfecta, and deformities aided OI suspicion.

  • •

    Limited imaging and genetic facilities in Nepal contribute to frequent OI misdiagnosis and delayed intervention.

  • •

    Early OI detention ensures better management and family preparedness, especially in mild cases. In low-resource settings, clinical suspicion remains vital where genetic testing is inaccessible.

1. Introduction

Pediatric bone fragility has varied etiologies and overlapping manifestations, which present a significant diagnostic challenge. Among these, rickets and osteogenesis imperfecta (OI) are two distinct conditions that can both lead to recurrent fractures in children. Rickets, primarily caused by deficiencies in vitamin D, calcium, or phosphate, results in defective bone mineralization and skeletal deformities [1]. In contrast, OI is a disease that arises due to defective collagen synthesis or processing. Often referred to as brittle bone disease, it is a heterogeneous group of disorders where, due to faulty collagen, there is increased bone fragility and increased chances of recurrent fractures [2]. Most OI cases result from autosomal dominant mutations in the COL1A1 and COL1A2 genes, which encode the α1(I) and α2(I) chains of type I collagen. Over 1500 such dominant mutations have been identified to date [3,4]. These mutations lead to a wide range of symptoms, which Sillence and colleagues classified into four types based on clinical, radiological, and genetic features. OI has several types with varying severity, Type I is the most common and mildest form, characterized by blue sclera, dentinogenesis imperfecta may be present, almost normal stature, fractures and minimal bone deformities. Patients usually achieve normal height and have few functional limitations. They may experience long bone fractures, especially when starting to walk, and are particularly at risk for vertebral compression fractures during rapid growth phases like puberty. These fractures can cause back pain, scoliosis, or be asymptomatic but generally respond well to treatment [5,6]. Type II is lethal form, often resulting in death shortly after birth due to multiple fractures and respiratory complications. Type III presents with severe deformities, kyphoscoliosis, major deformities, very small stature, triangular face, variable colour of sclera and frequent dentinogenesis imperfecta. Type IV varies widely in severity, with patients ranging from fully mobile to wheelchair-dependent. Types V, VI, and VII are less common forms with distinct clinical features such as hyperplastic callus, normal colour of sclera, fractures, coxa vara and no dentinogenesis imperfecta [[5], [6], [7]]. The incidence of OI is estimated at 1 in 15,000 to 20,000 births [8].

The accurate differentiation between conditions resulting in pathological fractures is paramount for appropriate management and prognosis, as their underlying pathophysiology and therapeutic approaches differ significantly. This case report details the diagnostic journey of a pediatric patient who initially presented with a right femur shaft fracture. He again presented to our institution after a year with a second fracture of the left femur shaft. We operated on the case with surgical management, closed reduction, and internal fixation (CRIF) with titanium elastic nails system (TENS). Initially, the differential diagnosis of the patient included rickets, for which he received conventional treatment. However, due to persistent symptoms and the emergence of additional clinical features with multiple fractures over time, a re-evaluation was undertaken, ultimately leading to the correct diagnosis of osteogenesis imperfecta. This case highlights the complexities involved in diagnosing rare genetic bone disorders, particularly when they mimic more common conditions, and underscores the importance of a comprehensive clinical assessment, appropriate investigations, and a high index of suspicion in atypical presentations. This case report was held in line with the Surgical Case Report (SCARE) checklist [9].

2. Case presentation and therapeutic intervention

A 12-year-old male presented with persistent, sharp, and throbbing pain localized to the right thigh. The pain was aggravated by movement or weight-bearing and relieved by rest, with no radiation. There was no clear inciting event, and symptoms had gradually worsened over time. No recent trauma was reported. On further history, it was revealed that the child had undergone multiple orthopedic surgeries for fractures sustained at different times in the past. There was no allergic history to any medicines.

Three years earlier, the patient had presented to our institution with similar complaints following a right femoral shaft fracture caused by a fall from a high chair. Initial laboratory investigations, including serum calcium, phosphate, liver function test (LFT), renal function test (RFT), and vitamin D levels, were within normal limits. Fracture management involved closed reduction and internal fixation (CRIF) using the titanium elastic nail System (TENS) under general anesthesia. Postoperative recovery was uneventful. At the 6-week follow-up, radiographs demonstrated callus formation, and complete fracture healing occurred by three months. The TENS nail was removed after one year. The legal guardian was not able to provide the radiographic images of this stage.

Nine months post-implant removal, the patient returned with pain in the left thigh, this time without any history of significant trauma. Radiographs revealed a left femoral shaft fracture. CRIF with TENS was initially planned, but the procedure failed intraoperatively due to an obliterated medullary canal. An open reduction and internal fixation (ORIF) with a five-hole plate was performed using available hardware, as there was insufficient time to procure a better-suited plate while the patient was already under general anesthesia. Postoperatively, a hip spica cast was applied. At this stage, rickets was suspected clinically due to the presence of bowed legs, genu valgus, frequent fractures, short stature, and spinal deformities (kyphosis, scoliosis). Serum alkaline phosphatase (ALP) was elevated (likely also influenced by fracture healing), while calcium, phosphate, and parathyroid hormone (PTH) levels were within low-normal ranges. A bone biopsy was performed to rule out malignancy or tuberculosis, both of which were negative. Treatment for suspected rickets, including calcium and vitamin D supplementation and dietary modifications was initiated. The patient was discharged with instructions for monthly follow-up.

At 1.5 months post-ORIF, the patient presented with persistent pain at the same site. X-rays showed no callus formation and partial backing out of the implant. The patient was referred to a higher center, but financial constraints prevented further evaluation at that time.

By the three-month follow-up, complete implant failure was evident. Poor bone quality and absence of healing raised strong suspicion of an underlying pathology beyond rickets. Previous investigations had already ruled out hyperparathyroidism, malignancy, and tuberculosis.

A detailed clinical examination now revealed late-appearing features of Osteogenesis Imperfecta (OI) like blue sclera (Fig. 1), dentinogenesis imperfecta (Fig. 2), and skeletal deformities like triangular facies (Fig. 3.1), frontal bossing (Fig. 3.2), scoliosis (Fig. 3.3), and asymmetrical chest (Fig. 3.4). These features had not been apparent in earlier presentations. Given the progressive course and characteristic phenotype, OI was strongly suspected. Due to limited implant options and no magnetic resonance imaging (MRI) availability at our institution, the patient was urgently referred to a higher center for advanced orthopedic management. At the referral center, the failed five-hole plate was removed and replaced with a dynamic compression plate (DCP) secured with multiple locking and cortical screws. A K-wire was placed for additional stabilization, followed by hip spica immobilization (Fig. 4). Intraoperatively, the bones were noted to be extremely brittle, reinforcing the suspicion of OI. Histopathology was not repeated, as prior results had excluded infection and malignancy. Postoperatively, the patient developed anemia (hemoglobin 8.6 g/dL), managed in consultation with pediatrics and hematology. The K-wire was removed after four months; the plate remained intact on follow-up imaging (Fig. 5). The informant of the patient also stated that a similar history of multiple fractures was present in their family.

Fig. 1.

Fig. 1

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Child with bilateral blue sclera. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)

Fig. 2.

Fig. 2

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Images showing the lower jaw of the child with enamel destruction and crowded teeth.

Fig. 3.1.

Fig. 3.1

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Portrait of the child showing triangular facies.

Fig. 3.2.

Fig. 3.2

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Portrait of child showing frontal Bossing.

Fig. 3.3.

Fig. 3.3

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Image of the back of the child showing mild scoliosis.

Fig. 3.4.

Fig. 3.4

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Image showing asymmetrical chest.

Fig. 4.

Fig. 4

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ORIF with DCP and K-wire fixed along the left femur for mid-shaft femoral fracture. Mid-anterior bowing deformity of the femur with signs of osteopenia were noted.

Fig. 5.

Fig. 5

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Removal of K-wire from left femur with intact plate post OI diagnosis.

Genetic testing for OI was unavailable in our facility, and the family could not afford testing abroad. Based on clinical presentation and radiographic findings, the child was diagnosed with Osteogenesis Imperfecta Type I. Radiologic features included generalized osteopenia, thin cranial vault with prominent sutures (Fig. 6), underdeveloped facial bones, thin ribs with multiple healed fractures (Fig. 7), curved spine with early scoliosis/kyphosis, vertebral compression deformities/anterior wedging (Fig. 8), and gracile thoracic cage.

Fig. 6.

Fig. 6

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Plain anteroposterior X-ray of cranium showing thin cranial vault, pronounced sutures, and underdeveloped facial bones at 10 years of age.

Fig. 7.

Fig. 7

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Antero-posterior X-ray of chest with thin ribs (osteopenia) and suggestive early scoliosis or kyphoscoliosis.

Fig. 8.

Fig. 8

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Plain X-rays of the thoraco-lumbar spine showing decreased bone density, vertebral compression deformities, mild scoliosis or kyphosis. Thoracic cage deformities are persistent.

Following diagnosis, the patient was started on bisphosphonates, calcium supplementation and vitamin D supplementation.

One month after K-wire removal, the patient sustained a new right femoral fracture near the site of a previous injury (Fig. 9). The left femoral implant remained intact. The fracture was managed with CRIF using TENS under general anesthesia (Fig. 10). The patient was discharged after clinical stabilization and completion of the routine postoperative work-up.

Fig. 9.

Fig. 9

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Third incidence of right femur fracture.

Fig. 10.

Fig. 10

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Closed reduction and internal fixation (CRIF) with titanium elastic nails (TENS) of right femur.

At the two-month follow-up, X-ray of the left femur showed plate in situ; no callus formation (Fig. 11), X-ray of the right femur showed TENS nail in situ; early callus formation was noted (Fig. 12.1). On examination, there was mild swelling and tenderness over the left thigh, along with the healed scar of DCP and K-wire insertion was seen; No signs of infection from the recent insertion of TENS, along with a healed scar from previous removal, were seen on the right thigh (Fig. 12.2).

Fig. 11.

Fig. 11

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Plain X-Ray of left femur showing plate in-situ with no callus formation.

Fig. 12.1.

Fig. 12.1

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Plain X-Ray of right femur shows callus formation around TENS.

Fig. 12.2.

Fig. 12.2

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Visible healed scars of previous TENS removal (Arrow), scar of DCP and K-wire insertion (Asterisk). No any signs of infection noted at the recent site of TENS insertion.

The parents of the child/caregivers were counseled regarding gentle handling and fall prevention, long-term follow-up requirements, physiotherapy for mobility and strengthening, and psychosocial support.

A table summarizing the laboratory tests done during the course of illness is presented (Table 1).

Table 1.

Tests performed in 2024; month-wise.

Month Test Results (Normal)
Feb HPE No evidence of malignancy or infections
May Blood Sugar (Fasting) 141 mg/dL (70–120 mg/dL)
Liver Function (ALP) 333 U K.A (3–150 U K.A)
Hemoglobin (Hb) 8.6 g/dL (13–18 g/dL)
Serum Calcium 8.9 mg/dL (8–11 mg/dL)
PTH 4.7 pg/mL (15–65 pg/mL)
Vitamin D (25 OH) 41 ng/mL (< 20 ng/dL)
Serum Magnesium 2.06 mg/dL (1.46–2.31 mg/dL)
June Hemoglobin (Hb) 14 g/dL (13–18 g/dL)
Liver Function (ALP) 318 U K.A (3–150 U K.A)
PTH 8.0 pg/mL (15–65 pg/mL)
Oct Serum Calcium 9.0 mg/dL (8–11 mg/dL)
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3. Timeline of events

A summary of the timeline of events is presented (Fig. 13).

Fig. 13.

Fig. 13

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Sequential timeline of events.

4. Discussion

We report a pediatric case of a pathological fracture that arises when weakened bone, compromised by intrinsic factors such as metabolic bone disease or tumors, or by extrinsic factors like surgical defects, premature fixation removal, or radiation, succumbs to stress [10]. A stress fracture, a variant of this condition, results from repetitive excessive forces that compromise the bone's remodeling capacity, occurring in both healthy and compromised bone. In children, such fractures should be suspected when minimal trauma produces a break or when imaging reveals unusual fracture patterns or sites suggestive of underlying pathology [11]. It is also important to note that diagnosis can sometimes be delayed if the focus is placed solely on treating the fracture itself without fully exploring potential underlying causes, highlighting the need for a thorough assessment alongside fracture management. Plastic fractures, toddlers, impaction, hairline, Salter-Harris type 1, angled, buckled fractures are commonly missed, and terrible consequences can follow [12,13]. Consequently, longer stay in hospitals, longer duration of follow-up and expenses regarding diagnosis and follow-up add up as a burden [[14], [15], [16]].

Parental ignorance, lack of definitive clinical and radiographic presentation, multiple doctor's visits, lack of suggestive procedures and communication are precipitating factors of delayed diagnosis [15,[17], [18], [19]].

As children become more active, they are more prone to long bone fractures, especially those with lower limb deformities who may require corrective surgery. Such deformities cause abnormal mechanical stress, increasing fracture risk. During rapid growth phases like puberty, children with OI are especially vulnerable to vertebral compression fractures and scoliosis. Repeated fractures can cause deformities and limit mobility. Severe OI cases may also experience complications such as coxa vara, basilar invagination, and protrusio acetabuli [5]. In this case, the symptoms had become more evident as they transitioned to puberty. As noted earlier, skeletal abnormalities and recurrent fractures in the weight-bearing lower limbs have become more apparent. The severity of OI ranges from perinatal lethality to mild forms that may go unnoticed until adulthood. Severe or lethal OI can be detected prenatally through ultrasound, CT, MRI, and confirmed by genetic testing, enabling early reproductive decision-making [20]. In Nepal, OI is rare and frequently misdiagnosed due to limited access to advanced imaging and genetic testing, with minimal prenatal detection. Advanced interventions, such as in-utero mesenchymal stem cell transplantation, are not currently feasible, and available postnatal treatments are non-curative, leaving severe cases with lifelong fractures and deformities. Mild to moderate OI is diagnosed postnatally based on clinical assessment and radiographic findings. Clinical symptoms in mild OI can vary widely, even among family members with the same mutation [14]. Moreover, distinguishing mild OI from child abuse or early-onset osteoporosis can be difficult [8].

The Emergency Department of the Academic Medical Centre (AMC) in Amsterdam introduced the SPUTOVAMO checklist, a Dutch screening tool with nine risk factors, designed to help identify cases of child maltreatment [21]. In the study by Sittig JS et al., patients were screened using the SPUTOVAMO-R checklist, a revised version of the original containing six yes/no questions [22]. A positive result was indicated if any question was abnormal. Due to the lack of a standard checklist, we adopted the revised SPUTOVAMO-R tool for evaluation and, combined with clinical correlation, used it to exclude physical child abuse [23]. The score was negative, excluding child abuse.

Marlowe et al. studied the effectiveness of biochemical testing to identify OI in children suspected of abuse, finding that 4.2 % of infants at risk of nonaccidental injury (NAI) were diagnosed with OI [24]. Due to the limited accuracy of clinical examination in distinguishing OI from suspected non-accidental injury (NAI), laboratory testing aids in precise diagnosis. Besides skeletal abnormalities, tissues expressing type I collagen may be affected, leading to features such as blue-grey sclera, dentinogenesis imperfecta, early adult hearing loss, muscle weakness, reduced respiratory function, and cardiac valvular regurgitation [25]. OI is a systemic, complex disease resulting from defects in type I collagen synthesis. Consequently, its management requires a multidisciplinary team comprising an orthopedic surgeon, endocrinologist, pulmonologist, neurologist, surgeon, radiologist, dentist, and nutritionist [8,26]. OI have varied symptoms in children, requiring early diagnosis for effective management. Early detection helps families understand the condition and establish support systems, especially for milder forms that are often overlooked. While genetic testing is increasingly accessible, a strong clinical suspicion based on detailed medical, family, social history, and physical examination is essential to guide further testing [27]. Although genetic testing is increasingly accessible globally, it is not readily available locally and requires travel abroad. In this case, due to financial constraints, genetic testing was not feasible. Additionally, with no family history and an initial presentation focused on trauma and fracture treatment, the patient was evaluated based on physical examination during the second visit, as OI is a rare condition not usually suspected initially.

Rickets, Ehlers-Danlos Syndrome, and hypophosphatasia are common to rare conditions which make the diagnosis of Osteogenesis imperfecta [[28], [29], [30]]; with detailed clinical history, biochemical tests, genetic evaluation and radiological markers being necessary to differentiate them. Radiographic features, standalone, cannot differentiate rickets, hypophosphatasia and osteogenesis imperfecta, bringing about the challenges like lack of enough resources, variability in presentation, along with depreciation of the patient if accurate and abrupt diagnosis are not made [[31], [32], [33]].

Among the various types of OI explained above, those who survive to adulthood are not exactly safe from experiencing fractures and hearing loss. Femoral and tibial fractures are common, scoliosis, respiratory insufficiency and chronic pain are higher than average in the non-affected population [[34], [35], [36], [37]].

Osteogenesis imperfecta (OI) belongs to a group of hereditary connective tissue disorders that also includes Ehlers-Danlos syndrome, Marfan syndrome, Hurler syndrome, and pseudoxanthoma elasticum. While cardiovascular complications are well recognized in Marfan syndrome, surgical management of valvular heart disease in OI is rarely reported, as the condition is primarily characterized by skeletal, ocular, auditory, skin, and dental abnormalities [38]. Aortic and mitral valve insufficiencies in osteogenesis imperfecta arise from defects in connective tissue formation [39]. Surgical interventions in OI patients carry increased risks due to tissue fragility and capillary weakness [40]. Anesthetic challenges include difficult intubation from musculoskeletal deformities, while kyphoscoliosis related ventricular impairment and limited mobility may prolong postoperative recovery [39].

Osteogenesis imperfecta (OI) may cause diverse neurological complications, primarily from skull base softening and upward migration of the upper cervical spine and odontoid process. This can result in brainstem compression, spinal canal narrowing, cerebrospinal fluid flow obstruction, and cranial nerve impingement. Neurovascular involvement may lead to carotid-cavernous fistulas, cervical artery dissection, and cerebral aneurysms. Brain parenchymal changes include cerebral atrophy, communicating hydrocephalus, and cerebellar hypoplasia. Bisphosphonate therapy remains the mainstay for moderate to severe OI (types III and IV), while neurosurgery may be indicated for severe basilar invagination. In type I OI, fracture frequency decreases post-puberty, with many patients attaining normal adult bone density [41].

Patients with osteogenesis imperfecta may exhibit a triangular facial shape with frontal bossing and mandibular deformities, causing malocclusion. Defective membranous and endochondral ossification often results in numerous Wormian bones accompanied by delayed fontanelle and suture closure. These Wormian bones may persist into adulthood [42].

Cerebral hemorrhage is a rare but potentially fatal complication of osteogenesis imperfecta. Reported causes include Moyamoya disease with subsequent subarachnoid hemorrhage, vertebral artery injury, vascular fragility, spontaneous intracranial hypotension, and friction between multiple cranial bone fragments [[43], [44], [45], [46]]. Associated vascular abnormalities include carotid-cavernous fistulas, cervical artery dissection, and cerebral aneurysms [44,47].

Radiological findings in osteogenesis imperfecta often reveal widespread spinal osteopenia, impaired development of the cortical bone, sclerosis of vertebral end plates, and vertebrae with a characteristic biconcave shape. Patients may develop severe spinal deformities such as kyphoscoliosis or pronounced combinations of lordosis and scoliosis. Another hallmark is the flattening of thoracic vertebrae, known as platyspondyly [48]. The primary pathophysiological hallmark of osteogenesis imperfecta is elevated bone turnover.

Medical management includes bisphosphonates, the gold standard pharmacological treatment for osteogenesis imperfecta, with evidence suggesting a reduction in fracture rates and alleviation of bone pain [49]. Alternative pharmacological options have also been explored; notably, teriparatide, an anabolic agent that stimulates bone formation, has demonstrated beneficial effects by increasing bone mineral density in adult patients with mild OI [50,51]. However, teriparatide has not proven effective in patients with moderate or severe OI [51]. Denosumab, a monoclonal antibody that reduces bone resorption, has been shown to improve bone mineral density in OI patients, although it carries a risk of hypercalcemia [52,53]. A clinical trial is currently assessing its safety and efficacy. Transforming growth factor beta (TGFβ) inhibition is also being explored as a treatment option [54]. Fresolimumab, a TGFβ-inhibiting antibody, is under clinical investigation for adult OI patients based on promising preclinical results [53,54]. Despite these advances, no definitive cure exists, particularly for severe or pediatric cases. The primary pathophysiological hallmark of osteogenesis imperfecta is elevated bone turnover. A significant breakthrough in its treatment has been the use of bisphosphonates, particularly for patients with moderate to severe disease [55]. These drugs work by suppressing osteoclast activity, thereby limiting bone breakdown. Long-term intravenous administration of pamidronate, given every 4 to 6 months, has demonstrated efficacy in lowering fracture risk and improving bone density, vertebral body height, and cortical bone thickening [56].

Surgical management includes operating on the fracture with open reduction internal fixation (ORIF), closed reduction internal fixation (CRIF) with TENS nail. A meta-analysis on the use of non-elongating intermedullary rods for long bone fractures following the diagnosis of OI has shown potential, but nearly 40 % of those cases require reoperation [57]. In patients with scoliosis as presentation of OI, use of growth-friendly surgical treatments in five patients with 2 years of follow-up showed consequent correction from initial presentation to final fusion [58]. A 10-year study in Romania, where 81 surgeries were performed on 32 patients with OI on bisphosphonate therapy, included a wide range of patients and shows evidence of eight children who were wheelchair-bound, returning to walking, either by support or independently [59]. Management of each fracture or deformity has its individual challenges and is not limited to post-operative complications or consequences. Peri-operative management of cases to prevent iatrogenic fracture is a must, and multi-disciplinary intervention is very much mandatory [60,61]. Recent advances in therapy include gene and stem cell treatments. Gene therapy aims to inhibit the expression of mutant alleles [62], while stem cell transplantation seeks to replace defective osteoblasts producing abnormal collagen with healthy cells [63,64].

OI does not have a one-step cure for disease as of now. Patients are expected to have repeated follow-ups, mostly because the diagnosis is itself difficult, followed by severe treatment-associated complications [32,65,66]. Societal views are detrimental, with low-income households possibly abandoning their young because of cost and repeated visits.

Counselling the parent is another difficulty. Consulting physicians may provide incomplete counselling, and are mostly limited to disease and complications associated with disease and treatment, rather than rehabilitation and new available therapies [67,68]. Prenatal diagnosis of OI leads to additional responsibility of counselling for medical service providers, with variation in use of terms and statements for possible management steps of the disease [69].

It should also be noted that no tool has been developed specifically to analyse the Quality of life and/or psychosocial status of patients with OI, with most studies using tools with overlapping subscales like PROMIS Ped and PODCI [70].

A patient living with OI or any rare genetic disorders may have a positive or negative psychosocial impact whose factors could be disease-related, psychological well-being, coping, illness perception, familial functioning and self-esteem [71]. Patients may feel isolated and a sense of difference, fear, difficulty in coping, and conflicting social relationships or have positive psychosocial impacts obtained with intellectual feats and adaptability [72]. This, however should be noted that all children in low-resource settings and/or low-income households are not equally fortunate.

As discussed earlier, patients with OI, depending on the time of diagnosis, survival, severity, and treatment modalities offered and available, will have variable lifestyles and quality of life. Although physical factors of disease, like disability, mobility, and functional outcome of limbs, are greatly variable with type and time of diagnosis and interventions available, Quality of Life, psychosocial status, and personal acceptance are greatly affected by the individual, family, and society. Although survivability is variable across types of OI, disability is inevitable until now. Newer forms of treatments, like gene therapy and cell therapy [73] are under consideration. Stem cell therapy as a treatment for OI is under clinical trial, named Boost Brittle Bones Before Birth (BOOSTB4), and promising results are seen [74]. With the future of OI greatly dependent on the development of the least invasive, most successful treatment available at the lowest cost possible, international-level patient and parental counselling regarding the future of life with OI needs to be urged. While the cost of healthcare resource utilization continues to rise in developed countries like the United States of America [75], low-resource countries and/or low-income families and patients are burdened with untimely diagnosis, lack of resources, incentives to intervene and unemployment [76,77].

5. Conclusion

This case illustrates the diagnostic and therapeutic challenges of Osteogenesis Imperfecta (OI) in resource-limited settings. The patient's initial fractures mimicked more common metabolic bone disorders such as rickets. OI often remains undiagnosed for extended periods, particularly in milder forms, due to subtle clinical signs and overlapping features with more common pediatric bone disorders. However, the combination of delayed bone healing, repeated implant failures, late-onset classical features, and characteristic radiologic findings led to the diagnosis. Maintaining a high index of suspicion for OI is essential, especially when a child presents with recurrent fractures following minimal trauma or without a clear metabolic cause. The case highlights the need for high clinical suspicion for OI in children with recurrent low-trauma fractures and delayed union, multidisciplinary management involving orthopedics, pediatrics, endocrinology, radiology, and physiotherapy. And early initiation of bisphosphonate therapy to improve bone strength with timely referral to higher centers for specialized surgical management. Including OI consistently in differential diagnosis of pediatric bone fragility can reduce delays, prevent unnecessary treatments, and improve long-term outcomes for affected children, In low-resource settings, where genetic confirmation and specialized implants are unavailable, coordinated care, patient education, parental counselling, psychological assessment of both the child and the parents, and ongoing follow-up are critical to improving functional outcomes and quality of life.

Research registration

None.

CRediT authorship contribution statement

Dinesh Kumar Pandit: Treating physician, supervision, concept and review.

Samagya Paudel: Conceptualization, resources, literature reviewed the manuscript, and the corresponding author who submitted the paper for publication.

Hem Shankar Yadav: Writing- literature review and editing, conclusion and image.

Kshitiz Shrestha: Writing- literature review and editing, conclusion and image.

Roshika Ghatani: Writing- review and editing, conclusion and image.

Pia Rai: Writing- review and editing, conclusion and image.

Ethical approval

Ethical review and approval were not required for the case report since the university waives ethical approval. The case report doesn't contain any personal information of the patient.

There is a requirement of consent before using images of the patient, which was obtained from the patient's guardian and is available for review by the Editor-in-Chief of this journal on request.

Name of the university: Tribhuvan University.

Name of the College: Janaki Medical College and Teaching Hospital.

Consent.

A written informed consent was obtained from the patients' legal guardian for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor -in Chief of this journal upon request.

Guarantor

Samagya Paudel accepts full responsibility for the work and /or the conduct of the study, had access to the data, and controls the decision to publish.

Patient perspective

“I was under immense stress regarding my child's condition. During my child's illness, the doctors were consistently supportive both through counseling and by providing financial relief with discounts on procedures. Initially, I was extremely worried, as nothing seemed to improve; my child was suffering multiple fractures, and our hospital visits became very frequent. Despite repeated treatments, there was no visible progress. However, after receiving thorough counseling from the doctors, I felt reassured and satisfied. Now, his treatment appears to be working much better than before, and I am grateful for the care and support we have received.”

Provenance and peer review

Not commissioned, externally peer-reviewed.

Sources of funding

The author(s) received no financial support for the research, authorship, and/or publication of this article.

Declaration of competing interest

The authors declare no conflict of interest.

Acknowledgements

None.

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