title: Surgical Approach, Findings, and Eight-Year Follow-Up in a Twenty-Nine Year Old Female With Freeman-Sheldon Syndrome Presenting With Blepharophimosis Causing Near-Complete Visual Obstruction.
abstract: The authors describe the surgical approach, findings, and 8-year follow-up in a 29-year-old woman, with severe Freeman-Sheldon syndrome, presenting with congenital blepharophimosis of both upper eyelids resulting in near-complete functional visual obstruction. To avoid possible Freeman-Sheldon syndrome-associated complications of malignant hyperthermia, difficult vascular access, and challenging endotracheal intubation, the surgery was completed under local anesthesia without sedation, and anatomical and functional correction was immediate and remained stable at 8-year follow-up. Unlike many congenital craniofacial syndromes, which frequently involve life-long impairments, important implications exist for plastic surgeons to facilitate opportunities for patients to overcome functional limitations.
authors.affiliation: Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, WV.
authors.forename: Augusto L
authors.initials: AL
authors.lastname: Portillo
authors.forename: Mikaela I
authors.initials: MI
authors.lastname: Poling
authors.forename: Rodger J
authors.initials: RJ
authors.lastname: McCormick
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D016569:Blepharophimosis / Q000175:diagnosis / Q000601:surgery*; D019882:Blepharoplasty / Q000379:methods*; D003394:Craniofacial Dysostosis / Q000150:complications* / Q000175:diagnosis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D013997:Time Factors; D015354:Vision, Low / Q000175:diagnosis / Q000601:surgery*