Although the anterior approach to cervical spine surgery is an important tool for managing pediatric spine conditions, there is limited literature on the topic. The aim of this single-institution study was to analyze the indications, surgical techniques, complication rates, and outcomes of anterior cervical spine surgery in pediatric patients. A single-center retrospective review of pediatric patients (age < 18 years) who underwent anterior cervical spine surgery from 2010 to 2022 was performed. Data collected included demographics, surgical indications, presenting symptoms, operative techniques and outcomes, fusion rate as defined in the postoperative note, complications, returns to the operating room, and rates of proximal/distal junctional issues. A total of 64 patients (mean age 13.3 ± 3.9 years, 73.4% male) with a mean follow-up period of 16 months were evaluated. The most common indication for surgery was trauma (73.4%), followed by deformity/nontraumatic instability (21.9%) and neoplasia (4.7%). Syndromic etiologies necessitating surgery were present in 9.4% of patients (Klippel-Feil syndrome [6.2%], achondroplasia [1.6%], and diastrophic dysplasia [1.6%]). Some patients (35.9%) had neurological deficits at presentation (6.2% motor only, 4.7% sensory only, 25.0% with motor and sensory deficits). Most patients (85.9%) underwent anterior surgery alone, whereas 14.1% underwent staged anterior surgery followed by posterior fixation. Two-level fusions were most common (45.3%), followed by single-level fusions (26.5%) and fusions of 3 or more levels (28.1%). An anterior plate was used in most cases (98.4%), 10.9% of which were small static cervical plate constructs. A synthetic cage was used in 14.1% of cases, most of which were polyetheretherketone (88.9%). A structural allograft was used in 85.9% of cases. Perioperative complications affected 9.4% of patients (hoarseness [4.7%], dysphagia [1.6%], hematoma [1.6%], and vascular injury [1.6%]). Arthrodesis across the anterior instrumented levels was successful in 98.4% of patients. Pseudarthrosis requiring revision surgery occurred in 1 patient within 1 year of the index surgery. Proximal junctional kyphosis was observed in 10.9% of patients, and 6.4% of patients required an unplanned return to the operating room (C3 pseudarthrosis [1.6%], hematoma evacuation [1.6%], and posterior implant failure [3.1%]). The authors report their single-institution experience with pediatric anterior cervical spine surgery. Most patients underwent anterior instrumented fusion alone with high rates of success. Larger, multicenter studies are needed to better elucidate factors that might contribute to unfavorable outcomes.

This cross-sectional study investigated mental health conditions, physical functioning, and health-related quality of life (HRQOL) in adults with short-statured skeletal dysplasia conditions across three centres; in New York, Newcastle-upon-Tyne and Norway. Questionnaires were sent to patients registered at the centres or distributed to adults attending clinics. The questionnaires included demographics, medical history, depression (PHQ-8), anxiety (GAD-7), pain catastrophizing, activities of daily living (HAQ), and HRQOL (SF 36/RAND-36 and PROMIS-29). Of the 142 participants, 62 (44%) had achondroplasia (n = 59) or hypochondroplasia (n = 3), and 80 (56%) had other skeletal dysplasia conditions (OSD), the largest groups being multiple epiphyseal dysplasia (n = 14), diastrophic dysplasia (n = 9), spondyloepiphyseal dysplasia congenita (n = 9) and pseudoachondroplasia (n = 8). Mean age was 41 (range 18-80) years. A prior psychiatric diagnosis was reported by 36%. Clinically significant symptoms of depression (PHQ-8 score ≥ 10) and anxiety (GAD-7 score ≥ 10) were reported by 23% and 13%. Almost all (99%) reported pain, while 9% had clinically significant levels of pain catastrophizing. For daily activities, the most affected domains were activities, reach and walking. The prevalence of current depression and anxiety symptoms was considerably higher in the study population than in the general US population. Participants with OSD reported more psychiatric diagnoses, depression and anxiety symptoms, more pain and challenges in performing daily activities, and lower HRQOL compared to participants with achondroplasia/hypochondroplasia. Adults with skeletal dysplasia appear to have an increased risk for mental health issues and reduced physical functioning, which may impact HRQOL. These findings underscore the importance of including a formal assessment of mental health, pain and daily activities as part of regular medical follow-up across the lifespan in these patients.

Skeletal dysplasias (SDs) are a broad and heterogeneous group of genetic disorders primarily affecting bone and collagen development. Diastrophic dysplasia (DTD) is a rare autosomal recessive chondrodysplasia caused by biallelic variants in the SLC26A2 gene. The current study aims to assess the clinical and molecular findings in Egyptian patients with DTD. This study enrolled fifteen patients who were clinically diagnosed with DTD. Exome sequencing identified nine homozygous variants in the SLC26A2 gene across ten patients; five of these variants were novel (p.Cys78Gly, p.Leu132Pro, p.Asp177Tyr, p.Thr546Ala, and p.Leu554Phe), while four had been previously reported. Novel variants were confirmed using Sanger sequencing and were predicted to be disease-causing based on in silico analyses and structural protein modeling. The exome sequencing analysis did not reveal any additional candidate genes that could contribute to the clinical phenotype in patients with negative SLC26A4 causative variants. Our findings expand the spectrum of variants associated with DTD, which may aid in early diagnosis and counseling for affected families. Further studies are needed to confirm computational predictions of novel variants and their consequences in disease mechanisms, and to identify causative genes in the undiagnosed cases.

The sulfate transporter gene SLC26A2 is crucial for skeletal formation, as evidenced by its role in diastrophic dysplasia, a type of skeletal dysplasia in humans. Although SLC26A2-related chondrodysplasia also affects craniofacial and tooth development, its specific role in these processes remains unclear. In this study, we explored the pivotal roles of SLC26A2-mediated sulfate metabolism during tooth development. We found that Slc26a2 was predominantly expressed in dental tissues, including odontoblasts and ameloblasts. Slc26a2 knockout (Slc26a2-KO-Δexon2) mice exhibited distinct craniofacial abnormalities, such as a retrognathic upper jaw, small upper incisors and upper molar hypoplasia. These mice also showed flattened odontoblasts and loss of nuclear polarity in upper incisors and molars, with significant reductions in odontoblast differentiation markers Dspp and Dmp1. Ex vivo and in vitro studies further revealed dentin matrix hypoplasia, tooth root shortening and downregulation of Wnt signaling in Slc26a2-deficient cells. These findings highlight the crucial role of SLC26A2-mediated sulfate metabolism in tooth development and offer insights into the mechanisms underlying dental abnormalities in patients with SLC26A2-related chondrodysplasias.