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Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).
- 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.
- Subjects :
- Abnormalities, Multiple diagnosis
Adult
Cafe-au-Lait Spots pathology
Cardiomyopathies genetics
Child
Diagnosis, Differential
Humans
Lentigo diagnosis
Lentigo genetics
Neurofibromatosis 1 diagnosis
Noonan Syndrome diagnosis
Peutz-Jeghers Syndrome diagnosis
Syndrome
Cardiomyopathies pathology
Lentigo pathology
Subjects
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