SEVERE LIMB DEFICIENCIES, VERTEBRAL HYPERSEGMENTATION, AND MIRROR POLYDACTYLY - 2 ADDITIONAL CASES THAT EXPAND THE PHENOTYPE TO A MORE GENERALIZED EFFECT ON BLASTOGENESIS

We report on 2 unrelated fetuses with a multiple congenital anomaly pa ttern of severe limb deficiencies, vertebral/rib alterations, and mirr or polydactyly similar to that described previously by us [Urioste et al., Hum Genet 97:214-217, 1996], In addition, the two cases we presen t here have a more extense alteration of blastogenesis, expanding the phenotype of the cases previously reported, We have suggested [Urioste ct al., Hum Genet 97:214-217, 1996] that this condition may be caused by a mutation in a developmental control gene that affects body-plan organization, The minimal estimate of the prevalence of this new entit y in our population (the Spanish Collaborative Study of Congenital Mal formations, ECEMC) is 3.0/1,000,000 live births. (C) 1997 Wiley-Liss, Inc.