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Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

Authors :
Coppin BD
Temple IK
Source :
Journal of medical genetics [J Med Genet] 1997 Jul; Vol. 34 (7), pp. 582-6.
Publication Year :
1997

Abstract

The multiple lentigines syndrome is an autosomal dominant condition which has many similarities to Noonan syndrome, except in the most striking feature from which its name is derived. The less neutral but very apt mnemonic, LEOPARD syndrome, was first used by Gorlin et al to whom the major debt in the definition of this syndrome lies, that is, Lentigines, ECG abnormalities, Ocular hypertelorism/Obstructive cardiomyopathy, Pulmonary valve stenosis, Abnormalities of genitalia in males, Retardation of growth, and Deafness. Not previously included in the mnemonic is cardiomyopathy which is an important feature because it is associated with significant mortality.

Details

Language :
English
ISSN :
0022-2593
Volume :
34
Issue :
7
Database :
MEDLINE
Journal :
Journal of medical genetics
Publication Type :
Academic Journal
Accession number :
9222968
Full Text :
https://doi.org/10.1136/jmg.34.7.582