Results 41 to 50 of about 242,527 (163)

Ocular sequelae of congenital toxoplasmosis in Brazil compared with Europe [PDF]

, 2008
Toxoplasmic retinochoroiditis appears to be more severe in Brazil, where it is a leading cause of blindness, than in Europe, but direct comparisons are lacking.
Bahia Oliveira LM, Bahia-Oliveira Lilian M. G., Bahia-Oliveira, LM, Wallon M, Martine Wallon, Lilian M G Bahia-Oliveira, Petersen E, Miles R Stanford, Wallon Martine, Stanford MR, Ruth E Gilbert, Tan, HK, Freeman, K, Katherine Freeman, Stanford Miles R., Lago, EG, Lago EG, Hooi Kuan Tan, Stanford, MR, Tan Hooi Kuan, Freeman K, Gilbert RE, Tan HK, European Multicentre Study on Congenital T.o.x.o.p.l.a.s.m.o.s.i.s., Freeman Katherine, Gilbert, RE, Eskild Petersen, Gilbert Ruth E., European Multicentre Study on Congenital Toxoplasmosis (EMSCOT), Buffolano Wilma, Wilma Buffolano, Petersen, E, Lago Eleonor G., BUFFOLANO, WILMA, Eleonor G Lago, Buffolano, W, Wallon, M, Petersen Eskild   +37 more
core   +1 more source

Sex Differences in Congenital Aural Atresia: A Systematic Review and Meta‐Analysis

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To evaluate sex differences in the diagnosis and management of congenital aural atresia (CAA). Data Sources PubMed, SCOPUS, CINAHL, Cochrane Library. Review Methods A comprehensive literature search was conducted from inception through January 2026.
Angelica M. Walker, Pranav A. Patel, Shaun A. Nguyen, Clarice S. Clemmens, David R. White   +4 more
wiley   +1 more source

Otologic and Audiology Concerns of Microtia Repair

, 2017
Microtia is a congenital auricular deformity that commonly presents with associated congenital aural atresia. The most acute concern in these patients is concomitant hearing loss at birth.
Kriti Mohan, Kausar Ali, Yi-Chun Liu
core   +1 more source

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

Anatomic Variants on Computed Tomography in Congenital Aural Atresia and Stenosis [PDF]

Clinical and Experimental Otorhinolaryngology, 2015
ObjectivesTo quantitatively analyzing the anatomic variants on temporal computed tomography (CT) in congenital external auditory canal stenosis (EACS), congenital aural atresia (CAA), and normal ear structure.MethodsThrough a retrospective study, we ...
Feng-hua Qin, Tian-yu Zhang, Peidong Dai, Lin Yang   +3 more
doaj   +1 more source

Congenital heart block associated with Sjögren syndrome: case report [PDF]

, 2009
Background: Congenital heart block is a rare complication of pregnancy associated with Sjögren Syndrome that may result in the death of the foetus or infant, or the need for pacing in the newborn or at a later stage.Case report: The case is presented of ...
Poate, Timothy W.J., Penelope J Shirlaw, Michael P Escudier, Shirlaw, Penelope J., Moutasim, Karwan A., Timothy WJ Poate, Escudier, Michael P., Karwan A Moutasim   +7 more
core   +1 more source

Surgical concepts for reconstruction of the auricle [PDF]

, 1986
We compiled and evaluated the world literature on auricular reconstruction, for a total of over 400 publications, more than 200 authors, and over 3,300 reported cases. We found that partial reconstructions were already performed as early as 600 BC; total
Toplak, F., Berghaus, Alexander
core   +1 more source

Clinical and radiological evaluation in children with microtia

, 1999
The management of a child with congenital ear malformation, in particular if the external ear is severely involved, is difficult because of the complexity of the therapeutic problem, and that of parental anxiety.
GARANI, Giampaolo, MARTINI, Alessandro, CALZOLARI, Ferdinando, SENSI, Alberto   +3 more
core   +2 more sources

Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review

Molecular Genetics & Genomic Medicine, 2023
Background To date, over 400 syndromes with hearing impairment have been identified which altogether constitute almost 30% of hereditary hearing loss (HL) cases around the globe.
Fereshteh Jamshidi, Ebrahim Shokouhian, Marzieh Mohseni, Kimia Kahrizi, Hossein Najmabadi, Mojgan Babanejad   +5 more
doaj   +1 more source

Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Using whole‐exome sequencing, we identified a novel TCOF1 frameshift variant (c.1601_1602delCC, p.Pro534Leufs*15) in a Chinese family with Treacher Collins syndrome. The variant produces a severely truncated Treacle protein lacking key functional domains.
Feiyang Fan, Ying Chen, Tianyu Zhang, Jing Ma   +3 more
wiley   +1 more source