LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD
Annals of Dermatology
; : 232-235, 2011.
Article
in English
| WPRIM (Western Pacific)
| ID: wpr-210665
Responsible library:
WPRO
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.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Pulmonary Valve Stenosis
/
Cardiomyopathy, Hypertrophic
/
Deafness
/
LEOPARD Syndrome
/
Panthera
/
Electrocardiography
/
Genitalia
/
Hearing Loss, Sensorineural
/
Hypertelorism
/
Lentigo
Type of study:
Diagnostic study
Language:
English
Journal:
Annals of Dermatology
Year:
2011
Document type:
Article