Goltz Syndrome with Absence of Fibula

Document Type : Case report


1 Assistant professor of Dermatology, Mashhad University of Medical sciences, Mashhad, Iran

2 Associate professor of Dermatology, Mashhad University of Medical sciences


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.


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