Noonan-like/multiple giant cell lesion syndrome

M. M. Cohen, R. J. Gorlin

Résultat de recherche: Articleexamen par les pairs

117 Citations (Scopus)

Résumé

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.

Langue d'origineEnglish
Pages (de-à)159-166
Nombre de pages8
JournalAmerican Journal of Medical Genetics
Volume40
Numéro de publication2
DOI
Statut de publicationPublished - 1991

ASJC Scopus Subject Areas

  • Genetics(clinical)

PubMed: MeSH publication types

  • Case Reports
  • Journal Article
  • Review

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