226 results match your criteria: "Floppy Eyelid Syndrome"
Ophthalmic Genet
December 2024
Department of Ophthalmology, Université de Montréal, Montreal, Québec, Canada.
Introduction: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a recently described syndromic disease linked to genetic variants. We present a novel variant associated with a phenotype of NEDDFSA in a pediatric patient presenting with multiple anomalies including bilateral congenital ptosis and blepharophimosis, floppy eyelids, telecanthus, downward palpebral slants, myopia, cryptorchidism, hallux valgus and developmental delay.
Methods: Genetic testing performed on a large panel revealed a likely pathogenic variant in the gene (heterozygous, c.
Sci Rep
September 2024
From UCSD School of Medicine Department of Ophthalmology, Shiley Eye Institute, La Jolla, CA, USA.
J Fr Ophtalmol
November 2024
Ophthalmology department, University Hospital of Nice, 30 Voie Romaine, 06000 Nice, France. Electronic address:
Diagnostics (Basel)
August 2024
Department of Ophthalmology, Campus Bio-Medico University Hospital, 00128 Rome, Italy.
J Pak Med Assoc
June 2024
Isra Postgraduate Institute of Ophthalmology, Karachi, Pakistan.
Sleep Sci
June 2024
Department of Neurology, The Iranian Center of Neurological Research, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Eur J Ophthalmol
November 2024
Department of Ophthalmology, Yuksek Ihtisas University, Liv Hospital, Ankara, Turkey.
Ophthalmic Plast Reconstr Surg
January 2024
Department of Ophthalmology and Visual Sciences, The Ohio State University Wexner Medical Center and The Ohio State University Comprehensive Cancer Center-James Cancer Hospital and Solove Research Institute, Columbus, Ohio, U.S.A.
Ophthalmic Plast Reconstr Surg
May 2024
Department of Ophthalmology, University of Colorado School of Medicine, Aurora, Colorado, U.S.A.
Ann Plast Surg
November 2023
From the Elson S. Floyd College of Medicine, Washington State University.
Surv Ophthalmol
August 2024
Yong Loo Lin School of Medicine, National University of Singapore (NUS), Singapore, Singapore; Department of Otorhinolaryngology-Head & Neck Surgery, Singapore General Hospital, Singapore, Singapore; SingHealth Duke-NUS Sleep Centre, Singapore, Singapore; Duke-National University of Singapore Medical School, Singapore, Singapore; Surgery Academic Clinical Program, SingHealth, Singapore, Singapore. Electronic address:
Surv Ophthalmol
August 2024
Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia; Department of Ophthalmology, Prince of Wales Hospital, Sydney, New South Wales, Australia. Electronic address:
Clin Case Rep
August 2023
Professional Eye Associates Dalton Georgia USA.
Graefes Arch Clin Exp Ophthalmol
December 2023
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Graefes Arch Clin Exp Ophthalmol
January 2024
Department of Ophthalmology and Surgery, Centre for Eye Research Australia, Victoria, 3002, Australia.
Front Physiol
May 2023
Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Beyoglu Eye J
March 2023
Department of Ophthalmology, Afyon Kocatepe University, Faculty of Medicine, Afyon, Türkiye.
Ophthalmic Plast Reconstr Surg
May 2023
Department of Ophthalmology, Royal Victorian Eye and Ear Hospital; Centre for Eye Research Australia, Melbourne, Victoria, Australia.
Obes Surg
February 2023
Department of Surgery, New Jersey Medical School, Rutgers, The State University of New Jersey, 185 South Orange Avenue, Newark, NJ, 07103, USA.
Surv Ophthalmol
February 2023
Yong Loo Lin School of Medicine, National University of Singapore (NUS), Singapore, Singapore; Department of Otorhinolaryngology-Head & Neck Surgery, Singapore General Hospital, Singapore, Singapore; SingHealth Duke-NUS Sleep Centre, Singapore, Singapore; Duke-National University of Singapore Medical School, Singapore, Singapore; Surgery Academic Clinical Program, SingHealth, Singapore, Singapore. Electronic address:
J AAPOS
February 2023
Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Mexico. Electronic address:
Graefes Arch Clin Exp Ophthalmol
June 2023
Ophthalmology Unit, Department of Experimental Medicine, University of Rome "Tor Vergata", Rome, Italy.
Ophthalmic Plast Reconstr Surg
March 2023
Corneoplastic Unit, Queen Victoria Hospital NHS Trust, East Grinstead, Sussex, United Kingdom.