Facial anomalies in D-2-hydroxyglutaric aciduria

D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. The biochemical defect is still unknown , and genetic heterogeneity has been suggested. Here, we report on facial a nomalies in two unrelated cases of D-2-hydroxyglutaric aciduria presenting with epileptic encephalopathy, In a review, we found that minor facial anom alies have been mentioned in three patients. A flat face with a broad nasal bridge and external ear anomalies were present in our patients and in repo rted cases. We suggest giving consideration to D-2-hydroxyglutaric aciduria as a cause of minor facial anomalies in epileptic encephalopathy of unknow n origin. (C) 1999 Wiley-Liss, Inc.