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June 20, 1986

Coexistence of Prader-Willi Syndrome, Congenital Ectropion Uveae With Glaucoma, and Factor XI Deficiency

Author Affiliations

From the Division of Endocrinology, The Mount Sinai School of Medicine (Dr Futterweit); the Department of Ophthalmology, The New York Eye and Ear Infirmary (Drs Ritch and Teekhasaenee); and the Department of Ophthalmology, Maimonides Medical Center (Dr Nelson), New York.

JAMA. 1986;255(23):3280-3282. doi:10.1001/jama.1986.03370230086037

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.

(JAMA 1986;255:3280-3282)