Background: Congenital anomalies of the knee are a spectrum of rare disorders with wide clinical and genetic variability, which are mainly due to the complex processes underlying knee development. Despite progresses in understanding pathomechanisms and associated genes, many patients remain undiagnosed.
Objective: To uncover the genetic bases of a congenital patellar dislocation affecting multiple family members with variable severity.
Malaria is a global health challenge, and international efforts are underway to alleviate its impact by 2035. Within the 249 million global cases, 0.6 million occur in the Americas, mainly in Venezuela, Brazil, and Colombia.
View Article and Find Full Text PDFMoebius syndrome (MBS) is a rare congenital disorder characterized by non-progressive facial palsy and ocular abduction paralysis. Most cases are sporadic, but also rare familial cases with autosomal dominant transmission and incomplete penetrance/variable expressivity have been described. The genetic etiology of MBS is still unclear: de novo pathogenic variants in and are reported in only a minority of cases, suggesting the involvement of additional causative genes.
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