Okihiro syndrome

Okihiro Syndrome 454b19e 454b19e 454b19e 454b19e 454b19e 454b19e

General: Autosomal recessive syndrome of Duane syndrome (retraction syndrome).

Ocular: Narrowing of palpebral fissures on adduction, widening on abduction; primary global retraction.

Clinical: May be associated with craniofacial abnormalities and various associated syndromes, such as Duane syndrome, cervico-oculo-acoustic syndrome, acrorenoocular syndrome, cat's-eye syndrome; association with cardiac defects, urinary tract anomalies, Duane anomaly associated with mental retardation, thenar hypoplasia, and radial ray abnormalities.

Collins A, Baraitser M, Pembrey M. Okihiro syndrome: thenar hypoplasia and Duane anomaly in three generations, Clin Dysmorphol 1993;2:237-240,

McGowan KF, on RA. Okihiro syndrome [Letter]. Am J Med Genet 1994; 51:89.

Stoll C, Alembik Y, Dott B. Association of Duane anomaly with mental retardation, cardiac and urinary tract abnormalities: a new autosomal recessive condition? Ann Genet 1994; 37:207-209.