TY - JOUR
T1 - Coexistence of Prader-Willi Syndrome, Congenital Ectropion Uveae With Glaucoma, and Factor XI Deficiency
AU - Futterweit, Walter
AU - Ritch, Robert
AU - Teekhasaenee, Chaiwat
AU - Nelson, Elliot S.
PY - 1986/6/20
Y1 - 1986/6/20
N2 - A patient with Prader-Willi syndrome and unilateral congenital ectropion uveae with glaucoma was found to have factor XI deficiency and reduced levels of serum luteinizing hormone, follicle-stimulating hormone, and testosterone. Administration of gonadorelin (LH-RH) increased serum levels of luteinizing hormone and follicle-stimulating hormone, while clomiphene citrate had no effect, suggesting a primary hypothalamic defect. Patients with congenital ectropion uveae should be followed up for the development of both glaucoma and neural crest disorders.
AB - A patient with Prader-Willi syndrome and unilateral congenital ectropion uveae with glaucoma was found to have factor XI deficiency and reduced levels of serum luteinizing hormone, follicle-stimulating hormone, and testosterone. Administration of gonadorelin (LH-RH) increased serum levels of luteinizing hormone and follicle-stimulating hormone, while clomiphene citrate had no effect, suggesting a primary hypothalamic defect. Patients with congenital ectropion uveae should be followed up for the development of both glaucoma and neural crest disorders.
UR - https://www.scopus.com/pages/publications/0022609038
U2 - 10.1001/jama.1986.03370230086037
DO - 10.1001/jama.1986.03370230086037
M3 - Article
C2 - 3086578
AN - SCOPUS:0022609038
SN - 0098-7484
VL - 255
SP - 3280
EP - 3282
JO - JAMA - Journal of the American Medical Association
JF - JAMA - Journal of the American Medical Association
IS - 23
ER -