LEOPARD syndrome with PTPN11 gene mutation showing six cardinal symptoms of LEOPARD

Jihyun Kim, Mi Ri Kim, Hee Jung Kim, Kyung A. Lee, Min Geol Lee

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. Clinical diagnosis is primarily based on multiple lentigines, typical facial features, and the presence of hypertrophic cardiomyopathy and/or cafe-au-lait macules. We report a typical case of LEOPARD syndrome with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, growth retardation, and sensorineural hearing loss.

Original languageEnglish
Pages (from-to)232-235
Number of pages4
JournalAnnals of Dermatology
Volume23
Issue number2
DOIs
Publication statusPublished - 2011 May

All Science Journal Classification (ASJC) codes

  • Dermatology

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