Duane's retraction syndrome and associated congenital malformations

Congenital malformations present in four patients with Duane's retraction syndrome include: Goldenhar's syndrome, Klippel-Feil anomaly, malformations of the ear, vertebral anomalies, abnormalities of the caruncle and lacrimal punctum, bilateral seventh nerve weakness, and cleft palate. Embryologic considerations suggest that a disturbance of normal embryogenesis during the second month of gestation could result in such a pattern of malformations and hence should be considered as a possible pathogenetic mechanism in at least some cases of Duane's syndrome. However, no significant history of maternal illness or drug ingestion is present in our four cases. The true frequency of neural, skeletal, auricular, and other ocular anomalies in patients with the retraction syndrome is unknown, since most minor abnormalities will escape detection unless specifically investigated, as in two of our cases. Such investigations, in combination with detailed gestational histories, might provide additional insight into the etiology of Duane's retraction syndrome.