Results 31 to 40 of about 20,731 (178)

Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management

Indian Journal of Ophthalmology, 2022
Purpose: Tessier classification is used to classify congenital facial cleft disorders utilizing the anatomical location of the cleft and its extension. The orbital and ocular morbidities associated with the birth disorder are numerous.
Deepsekhar Das, Sujeeth Modaboyina, Sahil Agrawal, Neelam Pushker, Rachna Meel, Mandeep S Bajaj   +5 more
doaj   +1 more source

Síndrome de fraser

Brazilian Journal of Health Review, 2022
Introdução: a Síndrome de Fraser é caracterizada por presença de criptoftalmo, sindactilia, anormalidades da genitália e outras malformações congênitas do nariz, ouvido ou laringe, defeitos esqueléticos, hérnia umbilical, agenesia renal e retardo mental. É uma expressão fenotípica que depende da consanguinidade dos pais.
Santos, Victória Bouez, Garcia, Joedna Virgínia Borges, Jordão, Júlia Cristina Miguel, Capelli, Larissa Borges, Alves, Taryane Barros, Santos, Suzane Coimbra, Ferreira, Stéffany, Ataides, Vitória Costa, Polo, Andre Luiz, de Paula, Anna Karollinna Pimenta, Santiago, Anthony Magalhães Morais, Peres, Caio Henrique Rezio, Rezende, Camilla da Rocha, Camargo, Jorge Humberto, Guimarães Filho, Mauro César Gobira, de Sousa, Nádia Germano, Shinyashiki, Marina Bava, Maia, Marina Aparecida, Paulino, Otávio Lotti, Brandão, Lara Mendes, Albuquerque, Laura Dianne Feitosa, Martins, Lorena Milhomem, Farinazzo, Lêda Maria Hamed   +22 more
openaire   +2 more sources

bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1. [PDF]

PLoS ONE, 2013
Fras1 is an extracellular matrix associated protein with essential roles in adhesion of epithelia and mesenchyme during early embryonic development. The adhesive function of Fras1 is achieved through interaction with a group of related proteins, Frem 1-3,
Kerry A Miller, Christopher T Gordon, Megan F Welfare, Georgina Caruana, John F Bertram, John F Bateman, Peter G Farlie   +6 more
doaj   +1 more source

Fraser syndrome without cryptophthalmos: A rare case report

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2015
Fraser syndrome is a rare autosomal recessive multisystem disorder characterized by features such as cryptophthalmos, syndactyly, congenital malformations, and abnormal genitalia.
Jimmy Kishan Sangtani, Ranjit Haridas Kamble, Sunita Shrivastav, Narendra Sharma   +3 more
doaj   +1 more source

Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas

Diagnostics, 2023
Background: Supernumerary teeth refer to extra teeth that exceed the usual number of dentitions. A mesiodens is a particular form of supernumerary tooth, which is located in the premaxilla region. The objective of the study was to investigate the genetic
Piranit Nik Kantaputra, Kanich Tripuwabhrut, Robert P. Anthonappa, Kanoknart Chintakanon, Chumpol Ngamphiw, Ploy Adisornkanj, Nop Porntrakulseree, Bjorn Olsen, Worrachet Intachai, Raoul C. Hennekam, Alexandre R. Vieira, Sissades Tongsima   +11 more
doaj   +1 more source

Fraser syndrome with extremely rare features of unilateral anophthalmia and penile torsion in an Afghan neonate: A case report

Global Pediatrics
Background: Fraser syndrome is a very rare genetic disorder with multiple organ-system abnormalities. The diagnosis is usually made on the basis of clinical examination, and management requires a multidisciplinary approach.
Turyalai Hakimi, Mansoor Aslamzai
doaj   +1 more source

Region-specific slowing of alpha oscillations associated with visual-perceptual abilities in children born very preterm

Frontiers in Human Neuroscience, 2013
Children born very preterm (≤32 weeks GA) without major intellectual or neurological impairments often express selective deficits in visual-perceptual abilities.
Sam McLeod Doesburg, Alexander eMoiseev, Anthony T Herdman, Urs eRibary, Ruth Eckstein Grunau   +4 more
doaj   +1 more source

Definition and surgical timing in cauda equina syndrome-An updated systematic review.

PLoS ONE, 2023
Study designSystematic review.ObjectivesTo conduct a systematic review identifying existing definitions of cauda equina syndrome (CES) and time to surgery in the literature for patients with CES.MethodsA systematic review was conducted in accordance with
Mohammad A Mustafa, George E Richardson, Conor S Gillespie, Abdurrahman I Islim, Martin Wilby, Simon Clark, Nisaharan Srikandarajah   +6 more
doaj   +1 more source

Simultaneous cochlear implantation and ipsilateral branchial cleft fistula excision in a pediatric patient

Otolaryngology Case Reports, 2021
Branchio-oto-renal syndrome (BOR), also known as Melnick-Fraser Syndrome, is an autosomal dominant genetic disorder resulting from a mutation of the EYA-1 gene and characterized by branchial cysts or fistulas, ear anomalies, hearing loss, agenesis or ...
Ali Khurram, Cynthia Wang, Charles Saadeh, Kenneth Lee   +3 more
doaj   +1 more source

Expression of Fraser syndrome genes in normal and polycystic murine kidneys. [PDF]

Pediatr Nephrol, 2012
Background Fraser syndrome (FS) features renal agenesis and cystic kidneys. Mutations of FRAS1 (Fraser syndrome 1) and FREM2 (FRAS1-related extracellular matrix protein 2) cause FS.
Kerecuk L, Long DA, Ali Z, Anders C, Kolatsi-Joannou M, Scambler PJ, Woolf AS.   +6 more
europepmc   +3 more sources