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J Med Genet. 1991 Feb;28(2):131-4.

The Ohdo blepharophimosis syndrome: a third case.

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1
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.

PMID:
2002485
PMCID:
PMC1016784
[Indexed for MEDLINE]
Free PMC Article
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