ASSOCIATION OF DUANE ANOMALY WITH MENTAL-RETARDATION, CARDIAC AND URINARY-TRACT ABNORMALITIES - A NEW AUTOSOMAL RECESSIVE CONDITION

The autors report on a child in which the occurrence of cardiac defect , urinary tract anomaly, and Duane anomaly was associated with mental retardation. The parents were first cousins. The index case was a 3-ye ar-old girl referred for mental retardation. Auricular septal defect w as diagnosed at birth. She was surgically treated for bilateral vesico -ureteral reflux at 2 years of age. At examination, she had a mild fac ial dysmorphism, microcephaly, spastic paraplegia and Duane anomaly. T he Duane anomaly may occur in association with various partly overlapp ing syndromes that may be part of the same clinical spectrum, as the c ervico-oculo-acoustic syndrome, the cat eye syndrome and syndromes inh erited in an autosomal dominant fashion : the acro-reno-ocular syndrom e and the Okihiro syndrome. Their patient seems to have a different co ndition from all of these previously reported syndromes associated wit h the Duane anomaly, Their suggest that this condition is best describ ed as a new syndrome.