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

Abstract

Abstract Cantú syndrome, or hypertrichotic osteochondrodysplasia, is a rare autosomal dominant disease characterized by congenital hypertrichosis, characteristic dysmorphisms, skeletal abnormalities and cardiomegaly. We report on a 7‐year‐old girl with congenital generalized hypertrichosis, coarse facial appearance and cardiac 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 echocardiogram 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.

Keywords

• ABCC9 gene
• Cantú syndrome
• congenital hypertrichosis
• hypertrichotic osteochondrodysplasia