Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.

Background: Pycnodysostosis (PD, OMIM # 265800) is a rare variant of skeletal dysplasia with an autosomal recessive type of inheritance, characterized by a combination of specific features such as disproportionate nanism, generalized osteosclerosis, and distinct craniofacial dysmorphism. Radiographic features include acro-osteolysis of the distal phalanges in association with sclerosing bone lesions with multiple fractures. The polymorphism of the clinical manifestations of pycnodysostosis and low prevalence of the disorder lead to the difficulties with early.

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We presented the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies caused by previously described and newly identified variants in the gene. Diagnosis confirmation was carried out by new generation sequencing of the target panel with subsequent validation of the identified variants using automated Sanger sequencing.

Spinal and extraspinal deformities in a patient with dysspondyloenchondromatosis.

Anisospondyly (irregularly shaped vertebral bodies) and enchondroma-like lesions in the metaphyseal and diaphyseal portions of the long tubular bones are the characteristic features in patients with dysspondyloenchondromatosis (DSC). Thoraco-lumbar scoliosis and windswept deformity of the lower limbs were the major abnormalities encountered in this patient. To the best of our knowledge this is the first case report delineating the spine pathology via reformatted CT scan and the correction of a windswept deformity by means of temporary hemiepiphysiodesis in a patient with (DSC).

Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome.

We describe the orthopaedic management of progressive genu varum in a child who manifested the full phenotypic characterization of Dyggve-Melchior-Clausen syndrome.