Search Results (6)

The treatment of shoulder dysplasia resulting from brachial plexus birth injury (BPBI) remains a matter of debate within pediatric orthopedic and neurosurgical communities. Various approaches have been proposed to address the muscular imbalance and joint incongruity that develop in affected children, with special attention paid to the roles of humeral head reduction and tendon transfers. Background/Objectives: These procedures aim to correct the disproportionate strength between internal and external rotators of the shoulder. However, the specific contribution of skeletal procedures such as glenoid osteotomy to restoring shoulder mechanics remains controversial. Glenoid osteotomy, a technique that involves surgically reorienting the glenoid cavity, is hypothesized to promote better containment of the humeral head and allow more physiological joint development. On one hand, altering the glenoid axis could enhance joint congruency and facilitate remodeling during growth. On the other hand, there is limited evidence supporting its efficacy and safety. Methods: This review aims to assess the available literature to determine whether glenoid osteotomy represents a safe and effective procedure for patients with BPBI-associated shoulder dysplasia. A comprehensive literature search yielded 1380 titles. After excluding studies focused on adults and those failing to meet inclusion criteria, only three studies were selected for final analysis. Due to the limited data and variability in study design, no statistical meta-analysis could be performed. Results: Findings suggest that glenoid osteotomy, particularly when combined with tendon transfers, may lead to improvements in shoulder abduction and external rotation. However, outcomes are often difficult to interpret in isolation, and the specific benefits attributable to the osteotomy remain unclear. The lack of standardized imaging, follow-up, and scoring systems limits the strength of current conclusions. Conclusions: Further multicenter, prospective studies are needed to evaluate the long-term efficacy of glenoid osteotomy, its role in skeletal remodeling, and its contribution to overall shoulder stability and function. Such studies would help clarify the true potential of this surgical technique in the broader context of BPBI treatment. Full article

Background/Objectives: Pneumatocysts, characterized by gas-filled cavities, are commonly found in the spine and pelvis but are rarely observed in the scapula. In this report, we describe two rare cases of scapular pneumatocysts mimicking bone tumors and exhibiting different image findings. Case Report: Case 1. A 47-year-old man who presented with neck pain underwent radiography, followed by magnetic resonance imaging (MRI). MRI showed heterogeneity with low and high signals on fat-suppressed T2-weighted images, suggestive of enchondroma or fibrous dysplasia (FD). However, preoperative computed tomography (CT) revealed gas-filled cavities within the tumor, in continuity with the shoulder joint, confirming the diagnosis of a pneumatocyst. Case 2. A 58-year-old woman who presented with neck pain underwent similar examinations to Case 1. MRI showed homogeneity with high signals on fat-suppressed T2-weighted images, leading to a suspicion of solitary bone cysts and FD. Preoperative CT revealed gas-filled cavities within the tumor, but no continuity with the joint, leading to the diagnosis of a pneumatocyst. While the exact etiology of pneumatocysts remains unclear, two potential causes are as follows: (i) gas migration from the joint to the bone, and (ii) gas replacement in cystic tumors. Thus, CT is particularly valuable in confirming the presence of gas-filled cavities and aiding in diagnosis. Conclusions: This report highlights two extremely rare cases of scapular pneumatocysts, reflecting two potential etiologies. The utility of CT in the diagnosis of pneumatocyst has been clarified. Full article

Pycnodysostosis (PD) is a rare autosomal recessive skeletal dysplasia from impaired bone resorption due to osteoclastic dysfunction. The features of PD are deformity of the skull, maxilla, and phalanges; osteosclerosis; and bone fragility. We describe the case of a patient with complaints of multiple fractures of the lower extremities in the anamnesis and pain in the lower extremities, cervical spine, and shoulder girdle during physical exertion. Genetic testing revealed a novel homozygous variant c.704T>C (p.Leu235Pro) in the CTSK gene. Biallelic pathogenic variants in this gene lead to PD. Thus, the diagnosis in the patient was established by finding a novel likely pathogenic variant in the CTSK gene. Full article

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with bulging calvaria, hypoplasia, or aplasia of clavicles permitting abnormal opposition of the shoulders; wide public symphysis; short middle phalanx of the fifth fingers; and vertebral, craniofacial, and dental anomalies. It is a rare disease, with a prevalence of 1–9/1,000,000, high penetrance, and variable expression. The gene responsible for CCD is the Runt-related transcription factor 2 (RUNX2) gene. We characterize the clinical, genetic, and bioinformatic results of four CCD cases: two cases within Mexican families with six affected members, nine asymptomatic individuals, and two sporadic cases with CCD, with one hundred healthy controls. Genomic DNA analyses of the RUNX2 gene were performed for Sanger sequencing. Bioinformatics tools were used to predict the function, stability, and structural changes of the mutated RUNX2 proteins. Three novel heterozygous mutations (c.651_652delTA; c.538_539delinsCA; c.662T>A) and a previously reported mutation (c.674G>A) were detected. In silico analysis showed that all mutations had functional, stability-related, and structural alterations in the RUNX2 protein. Our results show novel mutations that enrich the pool of RUNX2 gene mutations with CCD. Moreover, the proband 1 presented clinical data not previously reported that could represent an expanded phenotype of severe expression. Full article

Sternocostoclavicular hyperostosis (SCCH), the main clinical manifestation of chronic non-bacterial osteomyelitis (CNO) in adults, is associated with various degrees of chronic pain and restricted shoulder girdle function. We evaluated the impact of CNO/SCCH on quality of life (QoL) and its determinants in 136 adult patients with this rare auto-inflammatory bone disorder using the Short Form 36, Brief Pain Inventory, Brief Illness Perception, Utrecht Coping List, and Shoulder Rating questionnaires. Data were compared with those of the general Dutch population, patients with chronic pain, fibrous dysplasia, or osteoarthritis. Eighty-six (64%) predominantly female (85%) patients with completed questionnaires were included in the study. Sixty-four (75%) had isolated CNO/SCCH. Mean delay in diagnosis was 3.0 ± 5.5 (SD) years, 90% had variable pain, and 84% limited shoulder function. Compared to healthy and chronically diseased reference populations, CNO/SCCH patients demonstrated significant impairments in almost all aspects of QoL, maladaptive illness perceptions, and ineffective coping strategies. For patients with >5-year delay in diagnosis, higher pain scores and limited shoulder function were identified as determinants for impaired QoL. Patients with CNO/SCCH reported significant impairments in QoL associated with clinical and psychological determinants. Clinical measures such as shortening delay in diagnosis, effective pain management, and psychosocial interventions targeting these factors should help minimize the negative impact of CNO/SCCH on QoL. Full article

Background: Cleidocranial dysplasia (CCD) is a rare, autosomal dominant skeletal dysplasia with a prevalence of one per million births. The main causes of CCD are mutations in the core-binding factor alpha-1 (CBFA1) or runt-related transcription factor-2 (RUNX2), located at the 6p21 chromosomal region. RUNX2 plays important roles in osteoblast differentiation, chondrocyte proliferation and differentiation, and tooth formation. The disease is characterized by clavicular aplasia or hypoplasia, Wormian bones, delayed closure of cranial suture, brachycephalic head, maxillary deficiency, retention of primary teeth, inclusion of permanent teeth, and multiple supernumerary teeth. Materials and Methods: A 22-year-old girl suffering from cleidocranial dysplasia with short stature, narrow shoulders, craniofacial manifestations (short face, broad forehead, etc.) and dental anomalies (different lower dental elements under eruption, supernumerary and impacted multiple teeth, etc.) was examined at our service (Complex Operative Unit of Odontostomatology of Policlinico of Bari). RX Orthopantomography (OPG) and cone beam computed tomography (CBCT) were requested to better assess the position of the supernumerary teeth and their relationships with others and to evaluate the bone tissue. Results: Under eruption was probably caused by dental interferences with supernumerary teeth; hence, extractions of supernumerary upper canines and lower premolars were performed under general anaesthesia. Surgery outcome was excellent with good tissue healing and improvements in the therapeutic possibilities with future orthodontics. Conclusions: The objective of this article is to give an update about radiological, clinical, and molecular features of CCD and to alert the health team about the importance of establishing an early diagnosis and an appropriate treatment in these patients to prevent impacted teeth complications and to offer them a better quality of life. Full article