Duane-radial ray syndrome

Definition:

Duane-radial ray syndrome alias Okihiro syndrome is an autosomal dominant condition characterized by an association of Duane retraction syndrome (eye retraction) with radial malformations of the upper extremities and deafness. Mutations in the transcription factor SALL4 are the cause of the disorder.

References:

[1]. Demet Yüksel, et al. Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification. Vision Res. 2010 Nov 23;50(23):2334-47. [Content Brief]

[2]. Raidah Al-Baradie, et al. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet. 2002 Nov;71(5):1195-9. [Content Brief]

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