Cited 0 times in

50 18

PARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD

Authors
 Jihyun Kim ; Mi Ri Kim ; Min-Geol Lee ; Kyung-A Lee ; Hee Jung Kim 
Citation
 Annals of Dermatology, Vol.23(2) : 232~235, 2011 
Journal Title
 Annals of Dermatology 
ISSN
 1013-9087 
Issue Date
2011
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 café-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.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/95217
DOI
10.5021/ad.2011.23.2.232
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Laboratory Medicine
1. 연구논문 > 1. College of Medicine > Dept. of Dermatology
Yonsei Authors
사서에게 알리기
  feedback
Files in This Item:
T201105463.pdfDownload
Export
RIS (EndNote)
XLS (Excel)
XML

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse