Oral Facial Digital Syndrome

Abstract

We report a female infant with features suggestive of Oral Facial- Digital Syndrome (OFDS) Type I and associated cerebellar anomalies with Dandy-Walker malformation which suggest OFDS Type VI. The phenotypic overlap in this child with OFDS Type I and Type VI raises the question as to whether they represent separate genetic entities. This pattern of abnormalities appears to be unique.