SIBS WITH AXENFELD-RIEGER ANOMALY, HYDROCEPHALUS, AND LEPTOMENINGEAL CALCIFICATIONS - A NEW AUTOSOMAL RECESSIVE SYNDROME

The Axenfeld-Rieger anomaly is a defect of the anterior chamber of the eye affecting the angle structures. If accompanied by hypodontia, mid face hypoplasia, and umbilical anomalies, the designation ''Rieger syn drome'' is appropriate. Both conditions are autosomal dominant traits. The Axenfeld-Rieger anomaly is also known to occur in a variety of ot her syndromes, We report on two sisters, born to consanguineous parent s, who presented with Axenfeld-Rieger anomaly, hydrocephalus, leptomen ingeal calcifications, and mild mental retardation. Their height was o n and just below the 3rd centile, respectively. One of them suffered f rom epilepsy and the other from sensorineural hearing loss. Two of the ir brothers died at young ages of hydrocephalus and possibly had intra cranial calcifications as well. The differential diagnosis is discusse d. Of the known syndromes associated with Axenfeld-Rieger anomaly, non e could be convincingly applied to the propositae. Possibly, they repr esent a previously unreported autosomal recessive syndrome. (C) 1998 W iley-Liss, Inc.