Nail-patella syndrome (NPS) is an uncommon autosomal dominant condition marked by nail dysplasia, skeletal abnormalities, and variable renal manifestations, resulting from mutations in the LMX1B gene. We report a rare case of a 23-year-old male presenting with nephrotic-range proteinuria, characteristic skeletal manifestations of NPS, and a family history of renal failure. Genetic testing identified a previously unreported heterozygous missense variant in the homeodomain of LMX1B (c.791A>C; p.Gln264Pro), supporting its pathogenicity. The absence of patellar hypoplasia in our patient highlights the phenotypic variability of NPS. This case reinforces the importance of detailed physical examination and targeted genetic testing in diagnosing nephrotic syndromes.

Congenital radial head dislocation (CRHD) is a rare elbow condition that often remains undiagnosed until adulthood due to its asymptomatic nature. In contrast, isolated traumatic radial head dislocation (TRHD) is another uncommon entity that results from an elbow injury. Given their rarity and overlapping clinical features, distinguishing CRHD from isolated TRHD, particularly in adults with a history of trauma, poses a significant diagnostic dilemma. This review aims to enhance awareness about both conditions, and it is the first to address an in-depth comparison. A novel dual-algorithm approach is proposed as well to overcome the diagnostic challenges and guide clinicians' decisions. PubMed and Scopus were searched to identify reported cases of CRHD and isolated TRHD in adults. Key aspects, including epidemiology, clinical presentation, diagnostic modalities, and treatment strategies, were analyzed. Two diagnostic algorithms were developed based on clinical and radiographic parameters. CRHD is often asymptomatic until adulthood, typically lacks a history of trauma, shows bilateral involvement, and is frequently associated with congenital abnormalities. Conversely, isolated TRHD presents acutely with pain and a restricted range of motion (ROM) post-trauma. Imaging findings are crucial to differentiate the former two entities. Treatment differs significantly; CRHD is typically managed conservatively unless symptomatic, while isolated TRHD often requires closed reduction, with surgery reserved for irreducible cases or instability. CRHD and isolated TRHD in adults are exceptionally rare, and differentiation is crucial for proper management. This review highlights the diagnostic challenges of CRHD first identified in adulthood and emphasizes the value of clinical suspicion, imaging, and individualized treatment planning. Finally, the dual-algorithm approach provides the first structured diagnostic model to assist differential diagnosis of CRHD and isolated TRHD in adults, offering a cost-effective pathway and a more comprehensive option when initial evaluation is inconclusive.

Congenital radial head dislocation (CRHD) is a rare deformity of the upper extremity that may be sporadic or genetic in origin. While most of the cases are unilateral and asymptomatic, bilateral involvement is very rare. This condition may be related to genetic syndromes such as Ehlers-Danlos and Turner syndromes, or it may appear as an isolated anomaly. The current pathology is the deterioration of the anatomical relationship between the humerus and the head of the radius due to a developmental anomaly. In our study, we present a 71-year-old male patient who experienced elbow pain during daily activities for about 2 years. Our patient has no history of trauma. He has been able to move functionally independently throughout his life. Physical examination revealed flexion, supination, and pronation limitations in the range of motion of the elbow joint. Plain radiograph (X-ray) and three-dimensional-computed tomography imaging revealed bilateral anterior radius head dislocation, capitellum hypoplasia, ovoid radial head, long radial neck, and shallow trochlear incisura. This case shows that bilateral CRHD, which is extremely rare, can be managed with minimal symptoms and can be successfully managed with conservative treatment. Reporting similar cases will contribute to a better understanding of the natural history of this rare condition and the most appropriate treatment strategies.

Radial head dislocations in children can result from congenital anomalies, traumatic events, or as part of more complex injuries like Monteggia fractures. These dislocations are rare and may be overlooked unless considered in differential diagnoses. We describe a unique instance of a post-traumatic isolated lateral radial head dislocation in a 5-year-old boy with no previous medical concerns. The child presented with persistent pain and limited mobility in the left elbow following an unwitnessed fall at home. Diagnosis was confirmed via radiographs showing the dislocation without associated fractures. Closed reduction under anesthesia was successfully performed. This case underscores the importance of a high index of suspicion and thorough imaging in diagnosing pediatric radial head dislocations. Our discussion includes a review of the literature and the clinical approach for managing such injuries, highlighting the specifics of the closed reduction technique used. Isolated lateral radial head dislocations, although rare, can occur and are amenable to closed reduction. This case contributes to the limited reports of such dislocations in pediatric patients, emphasizing the need for awareness and precise management strategies to prevent long-term complications.

To review surgical management and outcomes of missed pediatric Monteggia fractures. A systematic review was conducted using PubMed, Medical Literature Analysis and Retrieval System Online (MEDLINE), Cumulative Index to Nursing and Allied Health Literature (CINAHL), and the Cochrane Library from inception through March 2, 2020. The keywords were "Monteggia fracture," "missed Monteggia," "neglected Monteggia," "chronic Monteggia," and "chronic radial head dislocation." All original human studies on missed pediatric Monteggia fractures were included. Congenital Monteggia fractures and isolated radial head dislocations were excluded. The revised Methodological Index for Nonrandomised Studies tool was used to assess the quality of studies. Each patient's data were retrieved individually. The χ2 test and Fisher exact test were used to analyze the difference in outcomes for different surgical managements. Multivariate analysis was performed for variables that were significant on univariate analysis. Thirty studies with 600 patients were included. Proximal ulnar osteotomies (P = 0.016) and the absence of transcapitellar pinning (P = 0.001) were the most significant predictors for eventual reduction of radial head. Other surgical management variables were not significant predictors. These include open or closed reduction approach of radial head reduction; presence or absence of ulnar osteotomy; presence or absence of lengthening, angular correction, overcorrection, or bone grafting of ulnar osteotomy; type of fixation for ulnar osteotomy; presence or absence of radial osteotomy; presence or absence of annular ligament repair or reconstruction; and repair or reconstruction of annular ligament. Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.