Article
Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome.
The Journal of craniofacial surgery - 1 Jun 2020
Poling Mikaela I, Dufresne Craig R, Chamberlain Robert L
Abstract excerpt
Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Since publication of the genotype-correlated clinical diagnostic criteria, no complete survey of the literature has been accomplished. As part of the clinical practice guideline development, we evaluate diagnostic accuracy for FBS from 1938 to 2019 and range of findings, complications, treatments, and outcomes. Published...
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