A CASE OF COSTELLO-SYNDROME WITH ENDOCRINE FEATURES

Citation
I. Yetkin et al., A CASE OF COSTELLO-SYNDROME WITH ENDOCRINE FEATURES, Annales de genetique, 41(3), 1998, pp. 157-160
Citations number
11
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00033995
Volume
41
Issue
3
Year of publication
1998
Pages
157 - 160
Database
ISI
SICI code
0003-3995(1998)41:3<157:ACOCWE>2.0.ZU;2-M
Abstract
The case of a 21-year-old woman with findings consistent with Costello syndrome (CS) is reported. Most previously reported cases of CS were in young children. In addition to the classic features, the patient ha d endocrine disturbances including secondary amenorrhea, goiter, and a drenal insufficiency. This last abnormality may be the cause of the hy poglycemic episodes seen in CS. Osteoporosis and anemia were additiona l features. This case provides new information on the endocrine featur es and prognosis of CS.