LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD
Annals of Dermatology
;
: 232-235, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-210665
ABSTRACT
LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. Clinical diagnosis is primarily based on multiple lentigines, typical facial features, and the presence of hypertrophic cardiomyopathy and/or cafe-au-lait macules. We report a typical case of LEOPARD syndrome with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, growth retardation, and sensorineural hearing loss.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Estenose da Valva Pulmonar
/
Cardiomiopatia Hipertrófica
/
Surdez
/
Síndrome LEOPARD
/
Panthera
/
Eletrocardiografia
/
Genitália
/
Perda Auditiva Neurossensorial
/
Hipertelorismo
/
Lentigo
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
Annals of Dermatology
Ano de publicação:
2011
Tipo de documento:
Artigo
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