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

Walter Futterweit, Robert Ritch, Chaiwat Teekhasaenee, Elliot S. Nelson

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)3280-3282
Number of pages3
JournalJAMA - Journal of the American Medical Association
Volume255
Issue number23
DOIs
StatePublished - 20 Jun 1986

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