Say syndrome: A new case with cystic renal dysplasia in discordant monozygotic twins

Say syndrome is a rare condition characterized by cleft palate, short stature, and microcephaly. Abu-Libdeh et al. [1993: Am J Med Genet 45:358–360] described a case with cystic renal dysplasia. We describe monozygotic twins discordant for the syndrome with kidney dysplasia. A postzygotic mutation is proposed as the cause of this autosomal dominant syndrome in this case. Am. J. Med. Genet. 70:353–356, 1997. © 1997 Wiley-Liss, Inc.