Diverse clinical manifestations of Cantú syndrome: The first case series in Vietnam.

Abstract

Cantú syndrome (CS) is an extremely rare autosomal dominant hereditary disease characterized by congenital hypertrichosis, distinct coarse facial features, cardiac defects, and other abnormalities in the skeletal and neurological systems. At present, cases with pathognomonic clinical manifestations are increasingly confirmed by genetic analysis. Two causative genes for CS are the well-known ABCC9 and the more rarely reported KCNJ8. Here, we report three Vietnamese children with CS, confirmed through genetic testing, presenting de novo ABCC9 mutations. The patients shared some common clinical manifestations, including congenital hypertrichosis, distinctive facial features, and a history of polyhydramnios during pregnancy. Concerning the various cardiac and neurological problems in the lifetime of patients with CS, an accurate diagnosis and appropriate management, especially genetic counseling, should be clinically applied in CS. Thus, our findings might modestly contribute to the global CS data, providing practical insights into CS manifestations.