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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome.

We describe a brother and sister and an unrelated boy with congenital cerebellar hypoplasia and endosteal sclerosis. All 3 children presented with ataxia and developmental delay, and were found to have microcephaly, short stature, oligodontia, strabismus, nystagmus, and congenital hip dislocation. A previously published case is reviewed. The disorder appears to represent a newly recognized autosomal recessive syndrome.[1]

References

  1. Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome. Charrow, J., Poznanski, A.K., Unger, F.M., Robinow, M. Am. J. Med. Genet. (1991) [Pubmed]
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