2 SIBS WITH CHORIORETINAL DYSTROPHY, HYPOGONADOTROPIC HYPOGONADISM, AND CEREBELLAR-ATAXIA - BOUCHER-NEUHAUSER-SYNDROME

We describe two sibs with chorioretinal dystrophy, hypogonadotrophic h ypogonadism, and cerebellar ataxia, Boucher-Neuhauser syndrome, a rare but distinct pleiotropic single gene disorder with an autosomal reces sive pattern of inheritance. The cases presented illustrate that this syndrome is still poorly recognised. We provide a review and analysis of previously reported cases and the differential diagnosis, which mig ht aid in the identification of additional cases.