RT Journal Article
SR Electronic
T1 Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 582
OP 586
DO 10.1136/jmg.34.7.582
VO 34
IS 7
A1 Coppin, B D
A1 Temple, I K
YR 1997
UL http://jmg.bmj.com/content/34/7/582.abstract
AB 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.