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-Reference-Cited by-同舟云学术

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

Published:2016-07 Issue:5 Volume:27 Page:1273-1276
ISSN:1049-2275
Container-title:Journal of Craniofacial Surgery
language:en
Short-container-title:

Author:

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

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine,Otorhinolaryngology,Surgery

Reference7 articles.

1. Cranio-carpo-tarsal dystrophy: undescribed congenital malformation;Freeman;Arch Dis Child,1938

2. Clinical characteristics and natural history of Freeman-Sheldon syndrome;Stevenson;Pediatrics,2006

3. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome;Toydemir;Nat Genet,2006

4. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally;Tajsharghi;Arch Neurol,2008

5. The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle;Racca;Hum Mol Genet,2015

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3. Re: “Periocular Anomalies in Freeman-Sheldon Syndrome”;Ophthalmic Plastic & Reconstructive Surgery;2021-11-04

4. A case of blepharophimosis: Freeman Sheldon syndrome;Ophthalmic Genetics;2021-10-19

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