Literature DB >> 27380584

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.

Augusto L Portillo1, Mikaela I Poling, Rodger J McCormick.   

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.

Entities:  

Mesh:

Year:  2016        PMID: 27380584     DOI: 10.1097/SCS.0000000000002781

Source DB:  PubMed          Journal:  J Craniofac Surg        ISSN: 1049-2275            Impact factor:   1.046


  4 in total

Review 1.  Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment.

Authors:  Mikaela I Poling; Craig R Dufresne; Rodger J McCormick
Journal:  J Pediatr Genet       Date:  2020-05-07

2.  Prolonged myosin binding increases muscle stiffness in Drosophila models of Freeman-Sheldon syndrome.

Authors:  Kaylyn M Bell; Alice Huang; William A Kronert; Sanford I Bernstein; Douglas M Swank
Journal:  Biophys J       Date:  2021-01-30       Impact factor: 4.033

Review 3.  Freeman-Burian syndrome.

Authors:  Mikaela I Poling; Craig R Dufresne; Robert L Chamberlain
Journal:  Orphanet J Rare Dis       Date:  2019-01-10       Impact factor: 4.123

4.  Drosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism.

Authors:  Yiming Guo; William A Kronert; Karen H Hsu; Alice Huang; Floyd Sarsoza; Kaylyn M Bell; Jennifer A Suggs; Douglas M Swank; Sanford I Bernstein
Journal:  Skelet Muscle       Date:  2020-08-15       Impact factor: 4.912

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.