Noonan-like/multiple giant cell lesion syndrome

M. M. Cohen, R. J. Gorlin

Producción científica: Contribución a una revistaArtículorevisión exhaustiva

117 Citas (Scopus)

Resumen

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.

Idioma originalEnglish
Páginas (desde-hasta)159-166
Número de páginas8
PublicaciónAmerican Journal of Medical Genetics
Volumen40
N.º2
DOI
EstadoPublished - 1991

ASJC Scopus Subject Areas

  • Genetics(clinical)

PubMed: MeSH publication types

  • Case Reports
  • Journal Article
  • Review

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