Advanced orbital involvement in cherubism (clinical case)
Abstract Cherubism (MIM:#118400) is a rare autosomal dominant fibro-osseous dysplasia caused by mutations in SH3BP2 gene. This is a self-terminating disorder which begins at 3–7 years old and stabilization at the forth decade of life. The main symptom is progressive bilateral enlargement of the upper and low jaws (often leading to the dental problems) and following with gradual prolapse of the soft tissue in the mid-face zone and lower lid retraction. Here we present a clinical case of orbital damage in patient with cherubism caused by p.P418L mutation in the SH3BP2 gene, and discuss our approach of orbital decompression.
Keywords:cherubism, orbital involvement in cherubism, familial fibro-osseous dysplasia, orbital surgery, SH3BP2, DNA diagnostics
Clin. Experiment. Surg. Petrovsky J. 2016. № 1. Р. 16–19.
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