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J Med Genet. Feb 1991; 28(2): 131–134.
PMCID: PMC1016784
The Ohdo blepharophimosis syndrome: a third case.
L G Biesecker
Department of Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor 48109-0718.
Abstract
A patient with a syndrome consisting of blepharophimosis, simple ears, hypoplastic teeth, developmental delay, and hypotonia is described. Previous case reports are reviewed and a differential diagnosis is described. Many of the features in the subject are similar to those described in two previous reports and they constitute a distinct syndrome.
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