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. 1997 Sep;34(9):767–771. doi: 10.1136/jmg.34.9.767

Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome.

R Rump 1, B C Hamel 1, A J Pinckers 1, P A van Dop 1
PMCID: PMC1051065  PMID: 9321767

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.

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Selected References

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