A Case of LEOPARD Syndrome.
- Author:
Hee Jung LEE
1
;
Hye Jin CHUNG
;
Young Hun CHO
;
Kee Yang CHUNG
Author Information
1. Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea. kychung@yumc.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
LEOPARD syndrome;
Lentigines
- MeSH:
Child;
Deafness;
Electrocardiography;
Female;
Genitalia;
Hearing Loss, Sensorineural;
Humans;
Hypertelorism;
Lentigo;
LEOPARD Syndrome*;
Panthera*;
Penetrance;
Pulmonary Valve Stenosis
- From:Korean Journal of Dermatology
2005;43(7):949-952
- CountryRepublic of Korea
- Language:Korean
-
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.
