Oro-facio-digital syndrome type 1: imaging findings in an 11-year-old girl.
We describe a uniquely illustrated case of orofaciodigital syndrome type 1. We document many of the possible features of this disorder in a young girl using multiple imaging modalities. Furthermore, we prove that the cysts in kidney and liver are not in contact with the excretory system using MRI, something that to our knowledge has not been previously reported.
Termote
B
B
Dept of Radiology, Ziekenhuis Oost Limburg, Genk, Belgium. brunotermote@gmail.com
Verswijvel
G
G
Palmers
Y
Y
D002648:Child; D003287:Contrast Media; D003560:Cysts / Q000175:diagnosis; D003952:Diagnostic Imaging; D005260:Female; D006801:Humans; D007089:Image Enhancement; D052177:Kidney Diseases, Cystic / Q000175:diagnosis; D008107:Liver Diseases / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D009958:Orofaciodigital Syndromes / Q000145:classification* / Q000175:diagnosis; D010181:Pancreatic Cyst / Q000175:diagnosis
D003287:Contrast Media