HYDRONEPHROSIS IMPORTANT FOR DIAGNOSIS IN SCHINZEL–GIEDION SYNDROME

DR. ABNISH KUMAR; DR. MANOJ KUMAR SINGH; DR. NEERAJ YADAV; DR. PARVEEN KUMAR

Volume : III, Issue : V, May - 2014

HYDRONEPHROSIS IMPORTANT FOR DIAGNOSIS IN SCHINZEL–GIEDION SYNDROME

Dr. Abnish Kumar, Dr. Manoj Kumar Singh, Dr. Neeraj Yadav, Dr. Parveen Kumar

Abstract :

Schinzel–Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midfaceretraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown.The objective of this report was to emphasize the importance of congenital bilateral hydronephrosis for the diagnosisof Schinzel–Giedion syndrome.