Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome. Issue 9 (September 1997)

• Record Type: Journal Article
• Authors: Rump, R; Hamel, B C; Pinckers, A J; van Dop, P A
• Is Part Of: Journal of medical genetics. Volume 34:Issue 9(1997)
• Page Start: 767
• Page End: 771
• Publication Date: 1997-09
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.34.9.767
• Languages: English
• ISSNs: 1468-6244

Abstract

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.