Case of Multiple Pterygium Syndrome (Escobar) with Horseshoe Kidney

Abstract

We report a 25-year-old male with multiple pterygium syndrome (Escobar) complicated with a horseshoe kidney. He had clinical characteristics of Escobar syndrome, including palpebral ptosis, auricular anomalies, pterygia with contracture of the elbow and knee joints, syndactyly and polydactyly of the feet, and growth failure. Renal scintigraphy and abdominal MRI and CT demonstrated a horseshoe kidney, which was thought to be an incidental association. He had no auditory brainstem response, but he could respond to sounds of low-frequency and the voices of familiar persons. Neither brain MRI and CT nor SPECT demonstrated any abnormalities. Further neurophysiological and neuroradiological studies are necessary to elucidate neurological deficits in this syndrome.