The Ohdo blepharophimosis syndrome: a third case.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 2002485.
- Also identified by PMC identifier 1016784.
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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.
Medical subject headings
- Abnormalities, Multiple
- Eyelids
- Intellectual Disability
- Microcephaly