Goltz Syndrome with Absence of Fibula

Goltz syndrome (Focal Dermal Hypoplasia) is a rare syndrome results from developmental defects in tissues with meso-ectodermal origin such as skin, eyes, mouth and teeth, musculoskeletal and central nervous system.We report a 6 years old girl with FDH who had several features of skin, eyes and mouth involvement with multiple skeletal defects and absence of fibula which has not been reported previously.