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

Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome.

We report on 2 sibs with the Fraser cryptophthalmos syndrome who had pulmonary hyperplasia and laryngeal stenosis. A third unrelated patient with Fraser syndrome had laryngeal stenosis, renal agenesis, and normal lung development, rather than the expected pulmonary hypoplasia. Three additional cases of pulmonary hyperplasia in the Fraser syndrome were ascertained from a review. In all of these cases the likely mechanism for pulmonary hyperplasia is retention of fetal lung fluid by laryngeal or tracheal obstruction.[1]

References

  1. Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome. Stevens, C.A., McClanahan, C., Steck, A., Shiel, F.O., Carey, J.C. Am. J. Med. Genet. (1994) [Pubmed]
 
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