Cardiofaciocutaneous (CFC) syndrome [Online Mendelian Inheritance in Man (OMIM) #115150] is characterized by craniofacial dysmorphism, heart malformation, ectodermal abnormalities, neuromotor delay and intellectual disability. It is not a frequent disease, about 300 cases have been reported in the medical literature. We describe the case of a 34-year-old patient presenting with CFC syndrome phenotype, monitored since the age of 1 1/2 years. Clinical findings included craniofacial dysmorphism, development delay, heart malformation and severe intellectual disability. The evolution was with progressive intellectual disability, hypogonadism, hypertrophic cardiomyopathy, wrinkled palms and soles. Molecular analysis showed a heterozygous variant in the B-Raf proto-oncogene, serine/threonine kinase (BRAF) gene (7q34): NM_001354609.2:c.1502A>G, with pathogenic significance. We report this case, observed along a period of 33 years, for illustration of clinical evolutive particularities, and for difficulties in establishing the positive diagnosis.

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The COVID-19 pandemic resulted in a global sanitary crisis and, in addition, elicited serious mental health consequences. The utilization of psychiatric hospital-based services acts as an indicator of public mental health. Therefore, this research sought to investigate differences in the numbers and characteristics of inpatient admissions for psychotic and affective disorders at the largest Romanian psychiatric hospital between the period of lockdown (March 16–May 15 2020) and another three corresponding periods: the same year in the pre-lockdown period (January 16–March 15 2020), the immediate post-lockdown period (May 16–July 15 2020), and two years later (March 16–May 15 2022). A retrospective analysis was performed. The study included a total of 6604 patients. Inpatient admissions decreased during lockdown in comparison with the pre-lockdown period and immediate post-lockdown period for psychotic disorders (p < 0.001 and p < 0.001, respectively) and affective disorders (p < 0.001 and p < 0.001, respectively). For both psychotic and affective disorders, a decrease in the age of the patients admitted during lockdown, as compared with the pre-lockdown period (p < 0.05 and p < 0.001, respectively), was observed. The length of the hospital stay for affective disorders was higher immediately post-lockdown in comparison with the lockdown period (p < 0.001). Collectively, the present findings provide a glimpse of the immediate and long-term consequences of the COVID-19 pandemic and lockdown measures on patients’ access to mental healthcare in the form of hospitalization, and these findings could provide the basis for the development of a different approach to times of crisis.

Examining specific patterns of major cranio-facial alterations through cephalometric measurements in order to improve the Prader–Willi (PWS) syndrome diagnostic poses a major challenge of identifying interlinkages between numerous credentials. These interactions can be captured through probabilistic models of conditional independence between heterogeneous variables. Our research included 18 subjects (aged 4 to 28 years) genetically diagnosed with Prader–Willi syndrome and a healthy control group (matched age and sex). A morphometric and cephalometric analysis was performed upon all the subjects in order to obtain the needed specific data. We have, therefore, firstly deployed several integrated Gaussian graphical models (GGMs) to capture the positive and negative partial correlations and the intensity of the connections between numerous credentials configured to determine specific cranio-facial characteristics of patients with PWS compared to others without this genetic disorder (case-control analysis). Afterwards, we applied structural equation modelling (SEM) with latent class analysis to assess the impact of these coordinates on the prevalence of the Prader–Willi diagnostic. We found that there are latent interactions of features affected by external variables, and the interlinkages are strapping particularly between cranial base (with an important role in craniofacial disharmonies) and facial heights, as important characteristic patterns in determining the Prader–Willi diagnostic, while the overall patterns are significantly different in PWS and the control group. These results impact the field by providing an enhanced comprehensive perspective on cephalometric characteristics and specific patterns associated with Prader–Willi syndrome that can be used as benchmarks in determining the diagnostic of this rare genetic disorder. Furthermore, the two innovative exploratory research tools applied in this paper are very useful to the craniofacial field to infer the connections/dependencies between variables (particularly biological variables and genes) on cephalometric characteristics and specific patterns associated with Prader–Willi syndrome.