We describe a 34-year-old woman with mental retardation, short stature, mac
rocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palm
ar and plantar creases who had evident Costello syndrome. Lacking papilloma
ta, she had wartlike lesions of the skin. The previously reported patients
with Costello syndrome are reviewed. Costello syndrome is probably an autos
omal dominant disorder, either caused by a mutation in a single gene or by
microdeletion. (C) 1999 Wiley-Liss, Inc.