Familial blepharophimosis: an uncommon marker of ovarian dysgenesis.

doi:10.1515/jpem.1995.8.2.127

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Article

Familial blepharophimosis: an uncommon marker of ovarian dysgenesis.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000

Nicolino M, Bost M, David M, Chaussain J L

Abstract excerpt

We report on six young female patients from two families who were found to have a very rare form of ovarian failure. Hypogonadism is inherited with an ocular abnormality consisting of a congenital dysplasia of the eyelids. In one family inheritance is autosomal dominant and in the other it is a d...

Topics

Adolescent
Blepharophimosis
Child
Female
Follicle Stimulating Hormone
Humans
Hypogonadism
Karyotyping
Luteinizing Hormone
Male
Mutation
Ovary
Pedigree

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