Search Results (37)

Background/Objectives: This study aimed to examine the prevalence of anatomical variations in the sacroiliac joints (SIJs) as observed through Magnetic Resonance Imaging (MRI), to characterize their manifestations, and to identify MRI features that may resemble inflammatory alterations. Methods: A retrospective review was conducted on consecutive MRI scans of the SIJ performed from January 2009 to January 2022. Eight anatomical variations, along with associated edematous and structural changes, were assessed. Results: The study encompassed 840 patients, with anatomical variations identified in 39.7% of the cohort, occurring more frequently among female participants. The most prevalent variations were accessory SIJ (36.2%) and the iliosacral complex (32.2%). Notably, isolated synostosis and persistent ossification center variations were absent. The increased frequency of variations in women, as well as their correlation with advancing age, was statistically significant (p = 0.034). Accessory SIJ and dysmorphic alterations were linked to bone marrow edema and structural modifications. In the iliosacral complex and semicircular defect variations, prominent vascular structures were observed extending along the bone surfaces. The number and depth of edema slices in sacroiliitis exceeded those observed in the variation (p < 0.001). Conclusions: Anatomical variations of the SIJ are prevalent among women and tend to increase with advancing age. Given that these variations, particularly accessory SIJ and dysmorphic alterations, may present with edematous and structural signal intensity changes that resemble sacroiliitis, it is crucial to recognize these variations. It is recommended to assess axial and coronal images concurrently and to exercise caution in the interpretation of SIJ MR images. Full article

Talocalcaneal coalition is a frequent cause of painful rigid flatfoot in adolescents and young adults, resulting from congenital failure of segmentation with fibrous, cartilaginous, or osseous bridging of the subtalar joint. Clinical presentation typically coincides with skeletal maturation and includes hindfoot pain, recurrent ankle sprains, progressive stiffness, and characteristic planovalgus deformity. Although prevalence is likely underestimated, advances in imaging have improved recognition and characterization. Diagnosis relies on the integration of clinical findings with imaging, where computed tomography (CT) remains the reference standard, while magnetic resonance imaging (MRI) enables accurate detection of both osseous and non-osseous coalitions and associated soft-tissue changes. This narrative review aims to provide a comprehensive and updated synthesis of current concepts in talocalcaneal coalition, with specific focus on its clinical implications and contemporary management strategies. We critically analyze diagnostic pathways, including emerging modalities such as weight-bearing CT, and discuss evidence-based indications for conservative treatment, coalition resection, and arthrodesis. Particular attention is devoted to patient selection, prognostic factors, and evolving minimally invasive techniques. Current limitations and areas of controversy are highlighted, emphasizing the need for standardized imaging criteria and optimized treatment algorithms to improve long-term functional outcomes. Full article

Congenital vertebral malformations (CVMs), affecting approximately 0.5–1 per 1000 live births, occur either in an isolated form or as part of syndromic disorders. Despite the identification of numerous causative genes for CVMs, the molecular etiology of most cases remains unknown. In this study, we applied a three-tiered diagnostic approach (chromosomal microarray analysis, followed by custom gene panel analysis, and exome/genome sequencing) in a cohort of 34 patients with CVMs. We achieved a 12% diagnostic success rate, identifying a deletion upstream of SOX9 and pathogenic or likely pathogenic variants in FLNB and KMT2D. Most pathogenic variants were detected by exome or genome sequencing, while earlier-tier analyses yielded limited results. We also identified two candidate genes, NSD2 and TBXT, that may contribute to the phenotype observed in our patients, but warrant future functional validation. Our work expands the molecular spectrum of CVMs and highlights the utility of comprehensive genomic testing for improving diagnosis and understanding of vertebral development disorders. Full article

Background/Objectives: The present case–control study aims to compare the symmetry of the sella turcica and cranial base of nine patients with anterior unicoronal synostotic plagiocephaly (ASP) and nine healthy patients referred to the maxillofacial unit of the Fondazione Policlinico Universitario Agostino Gemelli. The primary aim of this study is to assess changes in the morphology of the sella turcica and skull base in comparison with a healthy control population using both a 2D and 3D analysis of the sella turcica and skull base. Methods: Computed tomography (CT) scans of nine ASP patients from the Fondazione Policlinico Universitario Agostino Gemelli in Rome were retrieved. A quantitative evaluation of the skull base and the sella turcica was performed through the asymmetry index (A.I.), obtained from the comparison of the point-to-point distances ipsilateral and contralateral to the synostosis. A qualitative three-dimensional (3D) evaluation of the asymmetry of the sella turcica was performed by comparing each sella model with its mirrored counterpart; then, the root mean square (RMS) displacement between the original and mirrored 3D models was calculated. Results: The results showed higher A.I. values in the study group, particularly the length of the anterior cranial fossa, with A.I. values of 7.96 (study) vs. 0.02 (control). Conclusions: The higher values of the asymmetry index observed in the study group supported the presence of statistically significant asymmetries in the sella and cranial fossa measurements compared to the control group. Full article

Background: Syndactyly, the congenital fusion of digits, compromises hand function and esthetics. Although surgical separation is the standard treatment, the optimal timing of the intervention remains controversial. Methods: We prospectively analyzed 20 pediatric patients (86 operated fingers) undergoing syndactyly repair, comparing early (≤24 months) versus delayed (>24 months) surgery. Outcome measures included range of motion (ROM) at the metacarpophalangeal (MP), proximal interphalangeal (PIP), and distal interphalangeal (DIP) joints; complications (synostosis, nail deformities, finger length disparity, webbing); and patient-reported outcomes assessed by the Disabilities of the Arm, Shoulder, and Hand (DASH) and overall esthetic satisfaction scores. Results: The median age at surgery was 31 months (IQR25/75: 24.75–36.5), with a median follow-up of 72 months (IQR25/75: 42.0–86.25). Notably, digits III (28.24%) and IV (29.41%) were predominantly affected. Delayed surgery resulted in significantly improved MP ROM (90.98° ± 8.44° vs. 73.13° ± 22.37°, p = 0.004) and DIP ROM (76.28° ± 22.24° vs. 67.19° ± 22.78°, p = 0.028), with a non-significant trend toward better PIP ROM (93.00° ± 25.18° vs. 77.37° ± 30.29°, p = 0.075). Furthermore, the incidence of synostosis was markedly reduced in the delayed surgery group (6.0% vs. 38.9%, p = 0.001). Despite superior joint function associated with delayed intervention, early surgery patients reported higher satisfaction with cosmetic results (3.00 vs. 2.80, p = 0.028), while the DASH scores remained comparably low between groups (0.00 vs. 0.24, p = 0.141). Finger length disparities and webbing were minimal. Conclusions: Our study challenges the conventional advocacy for early syndactyly repair, by demonstrating that delaying surgery beyond 24 months significantly enhances joint mobility and reduces the synostosis rate. However, the higher satisfaction observed as a result of early intervention suggests that surgical timing should be individualized for affected fingers, joints, and severities to balance the functional and cosmetic outcomes. Further studies are needed to define the optimal surgical timing and techniques for pediatric syndactyly. Full article

Radio-ulnar synostosis is a rare complication which develops following forearm trauma, the main manifestation being stiffness and leading to the loss of pronation and supination. For the patient, it is a very frustrating experience due to the impairment of the normal function of the forearm, whereas for the surgeon the treatment is difficult as, unfortunately, there is no consensus regarding the best way to approach it. Many surgical techniques and other kinds of adjuvant therapies have been developed in an effort to solve this disability. This paper presents an overview of the principal factors which contribute to the development of synostosis and the best therapeutic approach methods found in the literature. Full article

A seven-month-old male Pomeranian presented with left forelimb lameness after a fall. Radiographic assessment confirmed proximal radial head and ulnar comminuted fracture. The initial surgical intervention involved the use of hybrid external skeletal fixation (ESF) to stabilize the radial head, concomitant with the application of a composite of bone morphogenetic protein type 2 (BMP-2)-loaded hydroxyapatite and gelatin microparticles at the fracture site. Although successful radial head healing was achieved, the ESF pinholes caused a defect in the proximal ulnar diaphysis. Subsequently, the ESF was removed, and a locking plate was applied in conjunction with the BMP-2-loaded collagen membrane to correct the radius defect. Clinical follow-up at 4.8 years postoperatively revealed a mildly decreased range of motion of the affected elbow joint, but no clinical symptoms such as lameness. Radiography revealed minimal degenerative changes and a radioulnar synostosis. Computed tomography revealed differences in the leg length and bone density. Gait analysis revealed that the left forelimb had a significant improvement in weight-bearing capacity based on weight distribution–peak vertical force metrics, compared with the right forelimb. Based on clinical outcomes, the combined application of hybrid ESF and bone tissue engineering techniques can be considered a feasible alternative treatment for radial head fractures. Full article

Objectives: Positional deformity (PD), also known as deformational plagiocephaly or non-synostosis, is a primary cause of abnormal head shape and asymmetry in infants. The most common type, occipital plagiocephaly, leads to flattening of one side of the back of the head or the entire head (positional brachycephaly). PD results from external forces on the growing skull, often due to childbirth and improper positioning during sleep. The incidence is approximately 1 in 300 births, with prevalence peaking between the seventh week and four months of age. Our objective was to monitor craniofacial parameters in patients with positional deformity (PD), to evaluate cranial asymmetry and PD severity, and to determine the relationship between craniofacial asymmetry and PD severity. Methods: This study included patients from the Department of Pediatric Neurosurgery at the National Institute of Children’s Diseases and the Faculty of Medicine, Comenius University in Bratislava, Slovakia. Craniofacial parameters on the right and left sides of the face were examined. Results: Significant differences were found in the upper and middle thirds of the face, indicating a strong association between positional deformity and facial asymmetry. Conclusions: the findings contribute new insights into craniofacial anthropometry and neurosurgery, enhancing the diagnosis of positional deformity in Slovakian patients. Full article

Background/Objectives: Congenital radioulnar synostosis (CRS) is a rare congenital disorder of the elbow joint caused by the abnormal fusion of the radius and ulna during fetal development, leading to limited forearm rotation and functional impairment. This narrative review aims to summarize the key aspects of diagnostic suspicion, treatment options, and lifestyle management strategies for individuals affected by CRS. Relevant sections: While CRS often occurs sporadically, there are familial cases with an autosomal dominant inheritance pattern. The diagnosis is established through a combination of clinical evaluation and radiological imaging, which confirms the presence and extent of the synostosis. Identifying the specific type and severity of CRS is critical for management decisions. Surgical interventions are considered based on factors such as the patient’s age, level of functional limitation, and symptom severity, while conservative treatment may be appropriate for cases with mild impairment. Discussion: Various surgical techniques have been described, but derotation osteotomy has emerged as a preferred option due to its predictable improvement in forearm function. Nevertheless, surgical treatment poses challenges, including potential complications like nerve injury and recurrence of deformity. Cultural and individual considerations, such as the desired forearm position, must be addressed to achieve optimal outcomes aligned with the patient’s lifestyle and needs. Conclusions: Managing CRS requires a nuanced and individualized approach, recognizing the unique challenges each patient presents. This review highlights the importance of continuous research to refine diagnostic and therapeutic strategies, ultimately aiming to enhance functional outcomes and quality of life for CRS patients. Full article

Introduction: Osteogenesis imperfecta (OI) is a hereditary disorder primarily caused by mutations in type I collagen genes, resulting in bone fragility, deformities, and functional limitations. Studies on upper extremity deformities and associated functional impairments in OI are limited. This cross-sectional study aimed to evaluate upper extremity deformities and functional outcomes in OI. Methods: We included patients regardless of their OI subtypes with a minimum age of 7 years. Radiographic analysis of radial head dislocation, ossification of the interosseous membrane, and/or radioulnar synostosis of the forearm were performed, and deformity was categorized as mild, moderate, or severe. Clinical evaluation was performed using the Quick Disabilities of Arm, Shoulder, and Hand (qDASH) questionnaire and shoulder-elbow-wrist range of motion (ROM). Three-dimensional motion analysis of the upper limb was conducted using the Southampton Hand Assessment Procedure (SHAP). The SHAP quantifies execution time through the Linear Index of Function (LIF) and assesses the underlying joint kinematics using the Arm Profile Score (APS). Additionally, the maximum active Range of Motion (aRoM) was measured. Results: Fourteen patients aged 8 to 73 were included. Radiographic findings revealed diverse deformities, including radial head dislocation, interosseous membrane ossification, and radioulnar synostosis. Six patients had mild, six moderate, and two severe deformities of the upper extremity. Severe deformities and radial head dislocation correlated with compromised ROM and worse qDASH scores. The qDASH score ranged from 0 to 37.5 (mean 11.7). APS was increased, and LIF was reduced in OI-affected persons compared with non-affected peers. APS and LIF also varied depending on the severity of bony deformities. aRoM was remarkably reduced for pro-supination. Conclusion: Patients with OI showed variable functional impairment from almost none to severe during daily life activities, mainly depending on the magnitude of deformity in the upper extremity. Larger multicenter studies are needed to confirm the results of this heterogeneous cohort. Level of evidence: Retrospective clinical study; Level IV. Full article

Study Design: This was a retrospective study at Noma Children Hospital, Sokoto, Nigeria, from January 2018 to December 2021. Objective: The main objective of this appraisal was to present Braimah-Taiwo et al.’s new classification system for mandibulo-maxillary synostosis secondary to noma and also to provide a guide to their treatment. Methods: Noma with mandibulo-maxillary synostosis was the main inclusion criteria. Excluded were cases of acute noma and noma without mandibulo-maxillary synostosis. Data retrieved include demographics of patients and extent of bony ankylosis and mandibulo-maxillary synostosis. Results: A total of 64 patients (30 (46.9%) males and 34 (53.1%) females) were managed. Ages ranged from 6 to 40 years with mean ± SD (18.2 ± 7.6) years. Regarding the new classification system of mandibulo-maxillary synostosis, 6 (9.4%) patients presented with Type 1 (Mild joint obliteration) ± Soft tissue scarring, 24 (37.5%) presented with Type II (Total joint obliteration) ± Soft tissue scarring, 21 (32.8%) presented with Type III (Coronoid, zygoma and maxilla) ± Soft tissue scarring, 4 (6.3%) presented with Type IV (Condyle, glenoid fossa, coronoid, sigmoid notch and zygoma) ± Soft tissue scarring, 7 (10.9%) presented with Type V (Condyle, glenoid fossa, coronoid, sigmoid notch, zygoma and pterygo-maxilla) ± Soft tissue scarring, while 2 (3.1%) patients presented with Type VI (condyle, glenoid fossa, coronoid, sigmoid notch, zygoma, pterygo-maxilla and the orbit) ± Soft tissue scarring. Conclusions: Pattern of tissue destruction in noma patients is complex involving both soft and hard tissues. This new classification will guide surgeons in the effective management of these patients. Full article

Isolated congenital pseudarthrosis of the fibula is a rare entity with a limited number of cases reported in the literature. Treatment is challenging because of recalcitrant nonunion and because no consensus about the best treatment plan exists. We report a case of isolated congenital fibular pseudarthrosis with valgus deformity of the ankle. The patient had a history of two failed operations. We used a novel surgical plan that combined tibiofibular synostosis with fibular segment transfer through a unilateral external fixator. The patient showed good early results with fibular union. We advocate the combination of tibiofibular synostosis and fibular segment transfer to restore the integrity and stability of the ankle in recalcitrant isolated congenital fibular pseudarthrosis cases with a history of failed surgery. Full article

Syndactyly is the most common congenital malformation of the hand, leading to the fusion of the digits and frequently affecting the ring and middle fingers. The incidence is 1 out of 2500 children, predominantly occurring in boys and Caucasians. Clinically, the malformation may present as a soft tissue or bony fusion, resulting in the union of the fingers characterised as complete or incomplete. This fusion may involve the phalanges but may also extend to the carpal/tarsal bones, even to the metacarpal or metatarsal level, rarely to the distal end of the forearm and lower leg. The malformation is mostly isolated but may occur together with other disorders or malformations such as synostosis, acro-syndactyly, cleft hand, clinodactyly, or polydactyly. Syndromic syndactyly can be observed in cases of Apert syndrome, Poland’s syndrome, Pfeiffer syndrome, and many others. A girl born in June of 2019 was diagnosed with congenital malformation of the right hand at birth—affecting the right middle, ring, and little fingers, respectively. After X-ray imaging, the fusion of the third and fourth proximal phalanges to a common metacarpal was identified, forming a unique diagnosis of clino-syndactyly with metacarpal aplasia. Surgical intervention was advocated for, including a wedge osteotomy to correct the synchondrosis at the phalangeal base and a dorsal flap to close the interdigital space created during the correction of the III and IV. fingers. A trapezoid flap for the release of the syndactyly of the IV and V. fingers was applied. The paper aims to present this surgical correction and its results regarding an atypical case of syndactyly with clinodactyly and metacarpal aplasia. Full article

Study Design: Cranial vault remodeling (CVR) for unicoronal synostosis is challenging due to the asymmetric nature of the deformity. Computer-automated surgical planning has demonstrated success in reducing the subjectivity of decision making in CVR in symmetric subtypes. This proof of concept study presents a novel method using Boolean functions and image registration to automatically suggest surgical steps in asymmetric craniosynostosis. Objective: The objective of this study is to introduce automated surgical planning into a CVR virtual workflow for an asymmetric craniosynostosis subtype. Methods: Virtual workflows were developed using Geomagic Freeform Plus software. Hausdorff distances and color maps were used to compare reconstruction models to the preoperative model and a control skull. Reconstruction models were rated as high or low performing based on similarity to the normal skull and the amount of advancement of the frontal bone (FB) and supra-orbital bar (SOB). Fifteen partially and fully automated workflow iterations were carried out. Results: FB and SOB advancement ranged from 3.08 to 10.48 mm, and
−1.75 to 7.78 mm, respectively. Regarding distance from a normal skull, models ranged from 0.85 to 5.49 mm at the FB and 5.40 to 10.84 mm at the SOB. An advancement of 8.43 mm at the FB and 7.73 mm at the SOB was achieved in the highest performing model, and it differed to a comparative normal skull by 0.02 mm at the FB and 0.48 mm at the SOB. Conclusions: This is the first known attempt at developing an automated virtual surgical workflow for CVR in asymmetric craniosynostosis. Key regions of interest were outlined using Boolean operations, and surgical steps were suggested using image registration. These techniques improved post-operative skull morphology. Full article

Background and Objectives: Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical features of a new patient with an 8q22.2q22.3 microdeletion, to compare her phenotype to other previously reported patients, and to further expand the phenotype associated with this microdeletion. Materials and Methods: We describe an 8½-year-old girl with developmental delay, congenital hip dysplasia, a bilateral foot deformity, bilateral congenital radioulnar synostosis, a congenital heart defect, and minor facial anomalies. Results: Chromosomal microarray analysis revealed a 4.9 Mb deletion in the 8q22.2q22.3 region. De novo origin was confirmed by real-time PCR analysis. Conclusions: Microdeletions in the 8q22.2q22.3 region are characterized by moderate to severe intellectual disability, seizures, distinct facial features and skeletal abnormalities. In addition to one already reported individual with an 8q22.2q22.3 microdeletion and unilateral radioulnar synostosis, this report of a child with bilateral radioulnar synostosis provides additional evidence, that radioulnar synostosis is not an incidental finding in individuals with an 8q22.2q22.3 microdeletion. Additional patients with similar microdeletions would be of a great importance for more accurate phenotypic description and further analysis of the genotypic-phenotypic relationship. Full article