LEOPARD syndrome: Report of a case

Abstract

<span>LEOPARD syndrome is an autosomal dominant hereditary disease, which is characterized with cutaneous pigmented patches, electrocardiographic changes, ocular hypertelorism, retarded growth, pulmonic stenosis, genital abnormalities and congenital deafness. The gene of this disease have high penetrance but expression is varied and incomplete forms may be seen. We report a 23 year-old woman with mucocutaneous pigmented patches, congenital deafness, delayed puberty and ECG changes. It seems that this case is an incomplete form of LEOPARD syndrome.</span>