Cryptophthalmos in Two Families from Bahia, Brazil

Abstract

Two families with cryptophthalmos are reported. Both families came from the same town in Bahia State, Brazil. Consanguinity was known between the parents themselves, but not between the individual families reported here. However, a common ancestor for both families is very likely because the four parents were born in the same `municipio'. There was one affected girl in family 1 and four affected sibs in family 2. A pair of affected monozygotic twins and a case of possible low expressivity of the syndrome are described in family 2.