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Keywords:

  • Steinfeld syndrome;
  • holoprosencephaly;
  • limb reduction defects;
  • phocomelia

Abstract

Steinfeld syndrome, which was first reported in 1982, is characterized by holoprosencephaly, phocomelia, clefting, congenital heart defects, and other anomalies. There have been two additional reports since then. This report describes a fetus with clinical features consistent with Steinfeld syndrome and it is the first patient with this condition to have extensive genetic evaluation. This appears to be an autosomal dominant syndrome with widely variable expression. The clinical features of this syndrome are reviewed. © 2010 Wiley-Liss, Inc.