Penile agenesis and clavicular anomaly in a child with an oral facial digital syndrome

Abstract

We report a male patient with the clinical characteristics of an OFDS (oral facial digital syndrome). He also has penile agenesis, clavicular flattening and cerebellar anomalies. This patient was classified as a severe form of OFD type II-Mohr syndrome but the possibility of this being OFDS VI-Varadi syndrome or a new form of OFDS cannot completely be excluded.