Noonan-like/multiple giant cell lesion syndrome

M. M. Cohen, R. J. Gorlin

Research output: Contribution to journalArticlepeer-review

117 Citations (Scopus)

Abstract

A patient with the Noonan-like/multiple giant cell lesion syndrome is reported and the findings in 14 cases are reviewed. Impressive manifestations include short stature, low normal intelligence or developmental delay, ocular hypertelorism, prominent posteriorly angulated ears, giant cell lesions of bones, joints, and/or soft tissues, pectus excavatum, and pulmonic stenosis. It has been difficult to delineate the syndrome because problems in identifying the condition have resulted from incomplete or truncate ascertainment by various medical specialists.

Original languageEnglish
Pages (from-to)159-166
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume40
Issue number2
DOIs
Publication statusPublished - 1991

ASJC Scopus Subject Areas

  • Genetics(clinical)

PubMed: MeSH publication types

  • Case Reports
  • Journal Article
  • Review

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