Cantú syndrome: A new case and evolution of clinical conditions during first 2-year follow-up

Cantú syndrome, or hypertrichotic osteochondrodysplasia, is a rare autosomal dominant disease characterized by congenital hypertrichosis, characteristic dys morphisms, skeletal abnormalities and cardiomegaly. We report on a 7-year-old girl with congenital generalized hypertrichosis, coarse facial appearance and car diac involvement, with a de novo heterozygous mutation (c.3461G>A) in the ABCC9 gene. During the annual cardiac follow-up at the age of nine the echocar diogram showed mild left ventricular dilatation in consideration of which she started ramipril treatment. The progression of the clinical manifestations of Cantú syndrome highlights the relevance of an early diagnosis, including genetic analysis, and a multidisciplinary approach with long-term follow-up.