Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).
Open Access
- 1 July 1997
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 34 (7) , 582-586
- https://doi.org/10.1136/jmg.34.7.582
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.Keywords
This publication has 31 references indexed in Scilit:
- Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndromeHuman Mutation, 1996
- Watson syndrome: is it a subtype of type 1 neurofibromatosis?Journal of Medical Genetics, 1991
- ‘Leopard’ syndromeAnaesthesia, 1990
- Gerstmann tetrad in Leopard syndromePediatric Neurology, 1989
- Unifying link between Noonan's and Leopard syndromes?Pediatric Cardiology, 1983
- Hypertrophic obstructive cardiomyopathy and lentiginosis: A little known neural ectodermal syndromeThe American Journal of Cardiology, 1981
- Cardio‐cutaneous syndrome (the “LEOPARD” syndrome). Review of the literature and a new familyClinical Genetics, 1976
- The leopard (multiple lentigines) syndrome revisitedThe Laryngoscope, 1971
- Multiple lentigines syndrome: New findings of hypogonadotrophism, hyposmia, and unilateral renal agenesisThe Journal of Pediatrics, 1971
- Congenital heart disease, deaf-mutism and associated somatic malformations occurring in several members of one familyThe American Journal of Medicine, 1966