Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder, characterized by disproportionate dwarfism with short spine, short neck associated with variable degrees of coxa vara. Cervical cord compression is the most hazardous skeletal deformity in patients with SEDC which requires special attention and management.Ten patients with the clinical and the radiographic phenotypes of spondyloepiphyseal dysplasia congenita have been recognized and the genotype was compatible with single base substitutions, deletions or duplication of part of the COL2A1 gene (6 patients out of ten have been sequenced). Cervical spine radiographs showed apparent atlantoaxial instability in correlation with odontoid hypoplasia or os-odontoideum.Instability of 8 mm or more and or the presence of symptoms of myelopathy were the main indications for surgery. Posterior cervical fusion from the occiput or C1–3, decompression of C1–2 and application of autorib transfer followed by halo vest immobilization have been applied accordingly.Orthopedic management of children with spondyloepiphyseal dysplasia congenita (SEDC) should begin with the cervical spine to avoid serious neurological deficits and or mortality.

Design Presentation of clinical cases and literature analysis. Material and methods Clinical observation of patients with congenital cervical spine and shoulder girdle anomalies operated on with neuromonitoring was performed. Operative treatment of Sprengel's deformity was produced with the use of neuroimaging. Results Surgical treatment resulted in good clinical outcomes without neurological adverse events and good aesthetic and radiological appearance at the descended scapula. Discussion Consideration for intraoperative neuromonitoring should be given to prevent neurological complications at lowering the elevated scapula. Conclusion Review of outcomes showed efficacious application of the most valid methods used to descend the scapula with neuromonitoring. This was supported by clinical and radiological findings of the extent of cranial transposition after appropriate correction and absence of neurological adverse events early postsurgery and at a longterm follow-up. No recurrence of scapular dislocation was observed at a long-term follow-up.

The paper presents recommendations on the assessment and treatment of vertebral pathology in patients with various types of mucopolysaccharidosis. The recommendations are based on literature data and the authors’ own experience. The purpose of the publication is an invitation to the discussion in the format of an expert consensus.

The constantly changing information about the genetic nature of osteogenesis imperfecta (OI), new approaches to classification and diagnosis, and the growing interest in this pathology require careful analysis and generalization of the available data in the recent literature. Purpose Analysis of recent literature on epidemiology, pathogenesis, etiology, classification of osteogenesis imperfecta. Materials and methods The literature search was carried out in the scientific literature databases of PubMed, Web of Science, Scopus, eLIBRARY, RSCI, and references of the key works. The following inclusion criteria were used: literature reviews, review articles, multicenter studies, cohort studies of patients with osteogenesis imperfecta. Results This systematic review included 18 publications that met the inclusion criteria. All selected publications were published within the period from 2012 to 2020. The study designs were review articles or literature reviews. Discussion Osteogenesis imperfecta is one of the most common types of skeletal dysplasia, a phenotypically and genetically heterogeneous group of hereditary bone diseases. OI is characterized by high variability of manifestations, even within the same type and one family. The results of the analysis of the prevalence of this disease in different population groups remain not fully covered. The degree of genetic heterogeneity of the disease has not yet been determined. Research is ongoing to identify new genes involved in the pathogenesis of OI. The introduction of modern methods for determining mutations in genes contributed to the progress of research into the molecular pathogenesis of osteogenesis imperfecta, and identification of new genes, mutations in which lead to OI. The large number of causative genes complicates the process of creating an optimal classification of OI. The difficulty of creating a comprehensive classification of OI subtypes is the fact that there is no clear phenotype-genotype relationship; based on the mutation, conclusions about its clinical severity cannot be drawn. Conclusion The classification of various types of osteogenesis imperfecta is still the subject of ongoing debate and research.

Федеральное государственное бюджетное учреждение «Российский научный центр «Восстановительная травматология и ортопедия» им. акад. Г.А. Илизарова» Министерства здравоохранения Российской Федерации, г. Курган Perioperative risk reduction for vertebrologic surgeries in patients with hereditary diseases of the connective tissue