Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome.
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.
Rump
P
P
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
Hamel
B C
BC
Pinckers
A J
AJ
van Dop
P A
PA
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