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LEOPARD syndrome (Moynahan's syndrome, multiple lentigenes syndrome)
The acronym LEOPARD stands for lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, & deafness
Pathology:
1) multiple lentigines, basal cell nevi
2) electrocardiographic changes
3) ocular hypertelorism
4) pulmonary stenosis
5) abnormal genitalia
6) retardation of growth
7) deafness
8) broad facies
9) rib anomalies
Genetics:
- associated with defects in PTPN11
- associated with defects in BRAF
Related
lentigo; melanocytic macule
General
developmental disorder syndrome (multisystem disorder)
genetic syndrome (multisystem disorder)
References
- Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed)
Lippincott-Raven, Philadelphia, 1998, pg 173
- Harrison's Principles of Internal Medicine, 13th ed.
Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038
- UniProt :accession Q06124