Urofacial syndrome: Uncommon and unforeseen cause of lower urinary tract dysfunction in children

Abstract

Dr. Ochoa proposed a condition known as Urofacial syndrome (UFS) which is characterized by the abnormal facial expression while smiling along with dysfunctional lower urinary tract in 1987. This study investigated 7 years old boy who presented with recurrent urine retention, dysuria, and inversion facial expression. Radiological and genetic work-up diagnosed him with UFS.

Keywords

• Urofacial syndrome
• Ochoa syndrome
• Voiding dysfunction
• Neurogenic bladder