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Article |

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

Walter Futterweit, MD; Robert Ritch, MD; Chaiwat Teekhasaenee, MD; Elliot S. Nelson, MD
JAMA. 1986;255(23):3280-3282. doi:10.1001/jama.1986.03370230086037.
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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)


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