LEOPARD 증후군 1예

Abstract

LEOPARD syndrome is an autosomal dominantly inherited multiple congenital anomaly syndrome with high penetrance and a markedly variable expression. LEOPARD is an acronym of lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth, and deafness. We report a typical case of LEOPARD syndrome which developed in an 11-year-old girl who had symptoms of lentigines, EKG abnormality, ocular hypertelorism, pulmonary stenosis, growth retardation, and sensorineural hearing loss.