Osteoporosis is a systemic, multifactorial disorder of bone mineralization. Many factors contributing to the development of osteoporosis have been identified so far, including gender, age, nutrition, lifestyle, exercise, drug use, as well as a range of comorbidities. In addition to environmental and lifestyle factors, molecular genetic factors account for 50–85% of osteoporosis cases. For example, the vitamin D receptor (VDR), collagen type I (COL1), estrogen receptor (ER), apolypoprotein Е (ApoE), bone morphogenetic protein (BMP), and Low-density lipoprotein receptor-related protein 5 (LRP5) are all involved in the pathogenesis of osteoporosis. Among the candidate genes, the pathogenic variants in which are involved in the pathogenesis of osteoporosis is FGFR2. Additionally, FGFs/FGFRs-dependent signaling has been shown to regulate skeletal development and has been linked to a plethora of heritable disorders of the musculoskeletal system. In this study we present the clinical, biochemical and radiological findings, as well as results of molecular genetic testing of a 13-year-old male proband with heritable osteoporosis, arthralgia and multiple fractures and a family history of abnormal bone mineralization and fractures. Whole exome sequencing found a heterozygous previously undescribed variant in the FGFR2 gene (NM_000141.5) (GRCh37.p13 ENSG00000066468.16: g.123298133dup; ENST00000358487.5:c.722dup; ENSP00000351276.5:p.Asn241LysfsTer43). The same variant was found in two affected relatives. These data lead us to believe that the variant in FGFR2 found in our proband and his relatives could be related to their phenotype. Therefore, modern methods of molecular genetic testing can allow us to differentiate between osteogenesis imperfecta and other bone mineralization disorders.

Background: The broad phenotypic variability observed in patients with Xp22.31 deletion, traditionally associated with X-linked ichthyosis (XLI), is increasingly recognized as encompassing a wider spectrum of clinical manifestations. While ichthyosis, caused by STS gene deletion, remains the hallmark feature, recent studies and genomic analyses (e.g., chromosomal microarray and whole genome sequencing) have revealed additional extracutaneous phenotypes. These include corneal opacification, cryptorchidism, autism spectrum disorders, intellectual disability, epilepsy, developmental delay, renal anomalies, and an elevated risk of atrial fibrillation and other cardiac arrhythmias, particularly in males. Interestingly, duplications of this region are usually considered benign, underscoring the need for nuanced interpretation. Case Description: We describe three unrelated male patients carrying hemizygous Xp22.31 microdeletions (~1.6 Mb), all presenting with mild to moderate ichthyosis characterized by “plate-like” desquamation. Two patients exhibited intellectual disability and bradyarrhythmia, while one experienced seizures. None had major congenital anomalies, and all underwent chromosomal microarray analysis to confirm the diagnosis. Conclusions: Our findings emphasize the need for a multidisciplinary approach when evaluating patients with Xp22.31 deletions, extending beyond dermatologic assessment to include neurological and cardiological evaluations, even in the absence of overt symptoms. This broader phenotypic understanding may enhance clinical management, support more accurate genetic counseling, and inform prenatal diagnostic decision-making. Furthermore, our observations support the hypothesis that genes within the deleted region—such as STS, PNPLA4, and VCX family genes—may contribute to the pathogenesis of neurological and cardiac abnormalities, warranting further functional studies and long-term clinical monitoring.

Introduction: Neurodevelopmental disorders (NDs), including autism spectrum disorder and related conditions, are increasingly recognized among women of reproductive age, yet their unique needs during pregnancy and childbirth remain poorly studied. Communication differences, sensory sensitivities, and co-occurring psychiatric conditions may complicate maternity care, leading to higher risks of adverse outcomes and ethical challenges in clinical practice. This study aimed to examine pregnancy complications, delivery outcomes, and postpartum characteristics in women with NDs, compared with a control group, and to identify specific barriers in perinatal care. Methods: A retrospective observational study was conducted at the National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, including 18 pregnant women with confirmed NDs and 21 matched controls with uncomplicated pregnancies. Data were extracted from medical records and included demographic parameters, pregnancy course, complications, labor management, neonatal outcomes, and documented communication or ethical issues. Comparative analyses were performed using chi-square or Fisher’s exact tests for categorical variables and Student’s t-test or Mann–Whitney U test for continuous variables. Results: Pregnant women with NDs had significantly higher rates of pelvic girdle pain (66.7% vs. 23.8%, p = 0.01), vaginal bleeding (44.4% vs. 14.3%, p = 0.04), anxiety (61.1% vs. 19.0%, p = 0.007), and depression (50.0% vs. 14.3%, p = 0.02) compared with controls. Persistent daily nausea was also more common (50.0% vs. 14.3%, p = 0.03). Attendance of prenatal physician visits was lower in the ND group (66.7% vs. 95.2%, p = 0.02). Cesarean delivery occurred in 83.3% of ND women versus 23.8% of controls (p < 0.001), with psychiatric recommendations often cited as the indication. Breastfeeding was declined in 94.4% of ND cases versus 4.8% of controls. Labor duration was prolonged, and neonatal anthropometrics were lower in the ND group. Communication difficulties were documented in 83.3% of ND participants, and postpartum depressive symptoms were identified in 77.8%. Conclusions: Pregnant women with NDs face a multidimensional vulnerability in maternity care, including higher frequencies of pain, bleeding, nausea, anxiety, and depression, prolonged labor, markedly increased cesarean rates, reduced breastfeeding initiation, and smaller neonatal anthropometrics. Frequent communication barriers, guardian decision-making, and postpartum separation further complicate care. These findings underscore the necessity of neurodiversity-informed, individualized perinatal strategies, integrating sensory accommodations, trauma-informed communication, and proactive mental health support to improve both clinical outcomes and patient experiences.

Arrhythmogenic right ventricular dysplasia is a hereditary cardiomyopathy - a common cause of sudden cardiac death in children and young adults. Loeys-Dietz syndrome is an ultra-rare connective tissue disorder characterized by aneurysms of the aorta and other large arteries, arterial tortuosity, and joint hypermobility and is associated with pathogenic variants in genes encoding protein components TGF-β pathway. We present a rare case of a two-abovementioned genetic disorders combination in a proband with a complex and rapidly progressive cardiovascular syndrome.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition marked by heterogeneity in presentation. In recent decades, ASD prevalence has risen globally, yet data from non-Western and middle-income countries, including Russia, remain scarce. Official statistics report a prevalence of 0.41 per 1000 (0.041%), far below global estimates of 32.2 per 1000 (3.2%), indicating underdiagnosis. This study provides the first population-based estimate of ASD prevalence among Russian elementary school children and examines barriers to diagnosis and treatment. The study followed a two-phase epidemiological approach. ASD identification used standardized instruments (SCQ, ADOS-2, ADI-R). The target population included all students in grades 1–3 (n = 34 847), stratified into mainstream, special education, and resource classes. ASD prevalence was estimated using Bayesian regression correcting for screening misclassification. The estimated ASD prevalence was 22.2 per 1000 children (95% CIs: 18.6–36.0), substantially exceeding what is reported based on the RF administrative data. The diagnostic phase had a 25.6% participation rate. ASD was more frequently identified in students from special education and resource classes than in general education settings. A Bayesian sensitivity analysis confirmed the robustness of prevalence estimates across plausible values for sensitivity and specificity. These findings suggest that ASD prevalence in Russia is considerably underestimated via administrative data. Systemic barriers—including limited access to diagnostic services and stigma surrounding psychiatric labels—may hinder ASD identification. Addressing these challenges is essential for improving early detection and service provision in Russia and similar contexts.