This condition is sometimes associated with ovarian failure although breast development is often normal. The resultant infertility is an example of a sex-limited autosomal trait. The syndrome can result from cytogenetic aberrations as well but individuals with these usually have other malformations such as contractures, mental defects, microcephaly, growth retardation, etc.
Some authors have considered individuals with the typical features of BPES who also have genitourinary malformations and cognitive deficits as examples of BPES plus syndrome. A recent report, for example, describes two sibs, a male and a female, with some features of this syndrome plus posteriorly rotated ears, hypertelorism, telecanthus, micrognathia and severe psychomotor retardation. The responsible mutation was not identified and its relationship to BPES remains unknown. Another individual with typical ocular and systemic features of BPES in addition to cryptorchidism, developmental delay, and syndactyly, was found to have a mutation in the gene KAT6B in the absence of mutations in FOXL2.
The phenotypic spectrum of this condition is extensive and it is likely that multiple mutations are collectively responsible for the clinical heterogeneity.
