Osteochondrodysplasia: punctate chondrodysplasia (а literature reference and own clinical case)

Osteochondrodystrophies belong to the group of perixsomal diseases. Punctate chondrodysplasia is a genetic disorder of connective tissue, accompanied by the formation of punctate calcifications in the epiphyses, areas of the bone growth plate and in periarticular tissues, followed by shortening of the limbs, the development of flexion contractures and deformities of the feet and curvature of the spinal column. Foci of calcifications can be visualized using fetal ultrasound and radiography during the neonatal and infancy period. The clinical symptoms of this pathology are different, depending on the number of organs and systems involved in the pathological process. The diagnosis is based on the study of genealogical history, clinical manifestations, data from laboratory and instrumental research methods, DNA diagnostics. Treatment of the above pathology is syndromic. Osteochondrodysplasia is an example of a severe hereditary pathology, the prevalence of which tends to increase. Genetic heterogeneity and polymorphism of clinical symptoms indicate the need for an in-depth and detailed study of such diseases, the features of their metabolic disorders and their consequences in patients. Aim - to present a clinical case of a patient with punctate osteochondrodysplasia, as an example of the need for constant palliative care. Clinical case. Multiple malformations in a child are diagnosed prenatally, confirmed after birth. The boy's condition from birth is hard, the boy has no spontaneous breathing since birth, attempts at non-invasive artificial lung ventilation were unsuccessful. The child underwent a lower tracheostomy for further long-term invasive ventilation to sustain life. Throughout his life, the patient will need multidisciplinary supervision by doctors, long-term antibiotic therapy for the prevention of secondary bacterial infection, periodic sanitation of the tracheobronchial tree. Conclusions. Patients with osteochondrodysplasia almost always have a serious condition. Children with osteochondrodysplasia need specialized lifelong care, taking into account the individual manifestations of the disease and the needs of the child. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors.