Phenotype mapping of the multiple endocrine neoplasia type II syndrome

Gary B. Talpos, Charles E. Jackson, Joann B. Yott, Daniel L. Van Dyke

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

The multiple endocrine neoplasia (MEN) IIb syndrome has been differentiated from MEN IIa by the presence of various phenotypic characteristics such as mucosal neuromas, marfanoid habitus, congenital skeletal anomalies, and prominent corneal nerves, as well as the lack of parathyroid involvement. Analysis of a kindred with some characteristics of both syndromes (including an associated chromosomal deletion) tends to unify the MEN II syndromes as a single disorder with variable expressivity. The linear map of the genetic determinants is postulated to conform with the following phenotype order: parathyroid tumors, medullary thyroid cancer, pheochromocytomas, skeletal changes, prominent corneal nerves, mucosal neuromas, and marfanoid habitus. Appreciation of this sequence can allow earlier identification and treatment of affected individuals.

Original languageEnglish (US)
Pages (from-to)650-654
Number of pages5
JournalSurgery
Volume94
Issue number4
StatePublished - 1983
Externally publishedYes

ASJC Scopus subject areas

  • Surgery

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    Talpos, G. B., Jackson, C. E., Yott, J. B., & Van Dyke, D. L. (1983). Phenotype mapping of the multiple endocrine neoplasia type II syndrome. Surgery, 94(4), 650-654.