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

The femoral hypoplasia-unusual facies syndrome: a genetic entity?

Nine patients with bilateral femoral hypoplasia have been investigated in an attempt to elucidate the syndromic identity and pathogenesis of the femoral hypoplasia-unusual facies syndrome (FH- UFS). We believe that the FH- UFS represents the end of the spectrum of a malformation complex and that it does not exist as a specific syndromic entity. Available evidence indicates that the pathogenesis is multifactorial rather than the result of any simple genetic mechanism.[1]


  1. The femoral hypoplasia-unusual facies syndrome: a genetic entity? Lord, J., Beighton, P. Clin. Genet. (1981) [Pubmed]
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