LEOPARD syndrome (Moynahan's syndrome, multiple lentigenes syndrome)

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Introduction

The acronym LEOPARD stands for lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, & deafness

Pathology

Genetics

  • associated with defects in PTPN11
  • associated with defects in BRAF

More general terms

Additional terms

References

  1. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 173
  2. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038
  3. UniProt http://www.uniprot.org/uniprot/Q06124.html