Results 81 to 90 of about 1,007 (198)

Ellis–van Creveld syndrome with facial dysmorphic features in an Egyptian child [PDF]

, 2011
Ellis–van Creveld syndrome (EVC) is a chondroectodermal dysplasia. The tetrad of cardinal features includes disproportionate dwarfism, bilateral postaxial polydactyl of hands, hidrotic ectodermal dysplasia, and congenital cardiac malformations. This rare
Shawky, RM, Seifeldin, NS, Sadik, DI
core  

Summary of CHRDL1 mutations.

, 2014
(A) Schematic of CHRDL1 protein domains. The following abbreviations are used: SP, signal peptide; VWFC, von Willebrand factor, type C domain. (B) Schematic of the CHRDL1 gene. (C) CHRDL1 mutations previously reported in X-linked megalocornea families [3]
Pirro G. Hysi (110207), Jessica C. Gardner (610423), Marie Restori (610427), Alison J. Hardcastle (132051), Jens M. Hertz (610430), Stephen J. Tuft (610432), Nicole Carnt (610422), Hala Hassan (28048), Daniela T. Pilz (610431), Alice E. Davidson (610418), Anne Marie Jelsig (610426), Michael Cosgrove (610429), Hala Ali (610421), Isabelle Russell-Eggitt (179269), Christopher J. Hammond (110274), Else Gade (610424), Lisa Kearns (610425), Vincent Plagnol (50600), Cristina Venturini (610420), Sek-Shir Cheong (610419), Tom R. Webb (132038), David Laws (610428), Jonathan B. Ruddle (248940)   +22 more
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Pais diferentes megalocorneas iguais: caso clínico [PDF]

, 2011
Introdução: No Recém-nascido, a presença de córneas de tamanho aumentado deve levantar a suspeita de se estar perante um caso de glaucoma congénito.No entanto, outras patologias não glaucomatosas podem também originar córneas de tamanho aumentado, com ...
Gonçalves, A, Pêgo, P, Cavalheiro, D, Silva, F, Alves, S, Vaz, F   +5 more
core  

Magnetic resonance imaging findings in Axenfeld–Rieger syndrome

Clinical Ophthalmology, 2013
Matthew T Whitehead,1,2 Asim F Choudhri,1,2 Sarwat Salim31Department of Radiology, University of Tennessee Health Science Center, Memphis, TN, USA; 2Le Bonheur Neuroscience Institute, Le Bonheur Children’s Hospital, Memphis, TN, USA; 3Department of
Whitehead MT, Choudhri AF, Salim S
doaj  

Megalocornea [PDF]

Ophthalmologica, 2010
openaire   +2 more sources

Pediatric ophthalmic indications for examination under anesthesia in Ilorin, Nigeria

, 2010
Objective: To determine the ophthalmic indications and challenges for pediatric ocular examination under anesthesia (EUA). Methods: The surgical register and patients′ records of children who underwent EUA between 1990 and 2007 were examined to document
Mahmoud, Abdulraheem Olarongbe, Oyedepo, Olanrewaju Olubukola., Ayanniyi, Abdulkabir Ayansiji.   +2 more
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Ophthalmological aspects of Pierson syndrome.

, 2008
PURPOSE: To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of this condition. DESIGN: Retrospective, observational case series.
Kagan, Mikhail, Matejas, Verena, Bláhová, Kvĕta, Thompson, Dorothy, Koenig, Jens, Mendonça, Erica Laima, Saggar, Anand, Maruniak-Chudek, Iwona, Krastel, Hermann, Hennekam, Raoul C., Medeira, Ana, Gregson, Richard M., Bredrup, Cecilie, Fowler, Darren J., Kroes, Hester Y., Wittebol-Post, Dienke, Barrow, Margaret, Zenker, Martin, Woodruff, Geoffrey, Schittkowski, Michael, Swietliński, Janusz, Zurowska, Aleksandra, Bockenhauer, Detlef, Sawyer, Taylor, Russell-Eggitt, Isabelle, VanDeVoorde, Rene G.   +25 more
core   +1 more source

A Novel PGAP3 Gene Mutation-Related Megalocornea Can Be Misdiagnosed as Primary Congenital Glaucoma. [PDF]

Cureus, 2022
Alhaidari AI, Albakri AS, Alhumaidi SS.
europepmc   +1 more source

Pediatric ophthalmic indications for examination under anesthesia in Ilorin, Nigeria [PDF]

, 2011
Objective: To determine the ophthalmic indications and challenges for pediatric ocular examination under anesthesia (EUA).Methods: The surgical register and patients’ records of children who underwent EUA between 1990 and 2007 were examined to document ...
Ayanniyi, AA, Mahmoud, AO, Oyedepo, OO
core  

Megalokornealı bir hastada fakoemülsifikasyon ve göz içi lens yerleştirilmesi

, 2012
Bu makalede fakoemulsifikasyon cerrahisi yapılan nadir görülen iki taraflı megalokornea ve katarakt hastası anlatılmıştır. Sol göze tek parçalı akrilik göz içi lensi (GİL) ve sağ göze üç parçalı akrilik GİL yerleştirildi.
Taş, Mehmet, Öner, Veysi
core   +1 more source