Oto‐palato‐digital syndrome, type II—an X‐linked skeletal dysplasia

Abstract

We report on two male infants with a lethal skeletal dysplasia characterized by cleft palate, midface hypoplasia, downward‐slanting palpebral fissures, small thorax, and bowed limbs with absent fibulae. The clinical and radiographic changes are similar to those seen in the recently proposed oto‐palato‐digital syndrome, type II [Fitch et al, 1983]. The disorder is X‐linked with heterozygous females being more mildly affected.