Journal of Medical Genetics · 1997 · 110 citations · 30 references
MedicineCardiologyGeneticsHuman GeneticsMedical GeneticsOcular DiseaseCongenital Heart DiseaseGenetic SyndromesInherited CardiomyopathiesMendelian Cardiovascular DisordersAutosomal Dominant InheritanceMnemonic SimilarityPulmonary Valve StenosisPulmonic Valve StenosisSyndromic Cardiomyopathy
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.
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Syndromes of the Head and Neck.
Robert J. Gorlin, Michael Cohen, Stefan L. Levin · Plastic & Reconstructive Surgery · 1992 · 593 citations · Full text
Robert J. Gorlin · American journal of diseases of children · 1969 · 328 citations
Syndromes of the Head and Neck
Michael J. Aldred · Journal of Medical Genetics · 1991 · 286 citations · Full text
Medicine, Oncology, Otolaryngology +10
David A. Voron, Hayes H. Hatfield, R K Kalkhoff · The American Journal of Medicine · 1976 · 195 citations