Korean J Dermatol.
2005 Jul;43(7):949-952.
A Case of LEOPARD Syndrome
- Affiliations
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- 1Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea. kychung@yumc.yonsei.ac.kr
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.
