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Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome Rump P; Hamel BC; Pinckers AJ; van Dop PAJ Med Genet 1997[Sep]; 34 (9): 767-71We describe two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia, Boucher-Neuhauser 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.|Adult[MESH]|Cerebellar Ataxia/*genetics[MESH]|Choroid Diseases/*genetics[MESH]|Female[MESH]|Humans[MESH]|Hypogonadism/drug therapy/*genetics[MESH]|Male[MESH]|Pregnancy[MESH]|Retina/pathology[MESH]|Retinal Degeneration[MESH]|Syndrome[MESH] |
