Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus

We describe an infant with clinically apparent oto-palatal-digital syndrome Type II (OPD II), who, in addition, also has hydrocephalus and cerebellar hypoplasia. This second X-linked disorder has not been reported previously to occur in association with OPD II. This patient had 2 maternal uncles who died neonatally with congenital hydrocephalus and digital abnormalities consistent with OPD II. We suggest that these 2 entities may be located near one another on the X chromosome, and that both loci are affected in this family.