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Blepharofacioskeletal Syndrome

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Blepharofacioskeletal Syndrome" returned 0 free, full-text review articles. First 0 results:
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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Blepharofacioskeletal Syndrome" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Blepharofacioskeletal Syndrome" returned 0 free, full-text research articles. First 0 results:
Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient.
Last Updated: Nov 24, 2016

We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence that BFSS and Schilbach-Rott syndrome (SRS) are the same condition.

Newly recognized blepharofacioskeletal syndrome.
Last Updated: Nov 17, 2004

A mother and daughter are described with similar facial and skeletal manifestations. The syndrome consists of blepharophimosis, malar hypoplasia, small thin lips, and long tapering fingers. The facial phenotype changes with age. Autosomal dominant inheritance is suggested.

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