title: Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome.
abstract: We describe two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia, Boucher-Neuhäuser syndrome, a rare but distinct pleiotropic single gene disorder with an autosomal recessive 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 might aid in the identification of additional cases.
authors.affiliation: Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
authors.forename: P
authors.initials: P
authors.lastname: Rump
authors.forename: B C
authors.initials: BC
authors.lastname: Hamel
authors.forename: A J
authors.initials: AJ
authors.lastname: Pinckers
authors.forename: P A
authors.initials: PA
authors.lastname: van Dop
mesh_terms: D000328:Adult; D002524:Cerebellar Ataxia / Q000235:genetics*; D015862:Choroid Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D011247:Pregnancy; D012160:Retina / Q000473:pathology; D012162:Retinal Degeneration; D013577:Syndrome