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 language | English (US) |
|---|---|
| Pages (from-to) | 650-654 |
| Number of pages | 5 |
| Journal | Surgery |
| Volume | 94 |
| Issue number | 4 |
| State | Published - 1983 |
| Externally published | Yes |
Fingerprint
ASJC Scopus subject areas
- Surgery
Cite this
Phenotype mapping of the multiple endocrine neoplasia type II syndrome. / Talpos, Gary B.; Jackson, Charles E.; Yott, Joann B.; Van Dyke, Daniel L.
In: Surgery, Vol. 94, No. 4, 1983, p. 650-654.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Phenotype mapping of the multiple endocrine neoplasia type II syndrome
AU - Talpos, Gary B.
AU - Jackson, Charles E.
AU - Yott, Joann B.
AU - Van Dyke, Daniel L.
PY - 1983
Y1 - 1983
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0020618892&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0020618892&partnerID=8YFLogxK
M3 - Article
C2 - 6137880
AN - SCOPUS:0020618892
VL - 94
SP - 650
EP - 654
JO - Surgery (United States)
JF - Surgery (United States)
SN - 0039-6060
IS - 4
ER -