Article
A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome.
American journal of medical genetics. Part A - 1 Dec 2005
McCann Emma, Fryer Alan E, Newman William, Appleton Richard E, Kohlhase Jürgen
Abstract excerpt
A two-generation family is reported in which three members have Duane anomaly and distal limb abnormalities. All three affected have photopic electroretinogram responses that are abnormal or at the lower limit of the normal range with normal scotopic responses. Two affected family members also have hearing loss. The likeliest diagnosis is the syndrome listed as "arthrogryposis-ophthalmoplegia syndrome" on the...
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