Results 51 to 60 of about 17,204 (212)

Tratamento da ptose mamária bilateral e do pectus excavatum através da mesma incisão no mesmo tempo cirúrgico [PDF]

, 2012
CONTEXT: Congenital deformities of the anterior thoracic wall are characterized by unusual development of the costal cartilages. All these medical conditions are frequently associated with a variety of breast deformities. Several surgical techniques have
Fagundes, Djalma José, Pires, Jefferson André, Rocha, Fernando Passos da, Torres, Vinicius Franchini   +3 more
core   +1 more source

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, EarlyView.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source

Comparative evaluation of “closed posterior levator advancement” in simple congenital and aponeurotic ptosis

Taiwan Journal of Ophthalmology
PURPOSE: The purpose of this study was to compare the outcomes of “closed posterior levator advancement” (CPLA) in acquired aponeurotic and simple congenital ptosis with good levator function (LF).
Ruchi Goel, Sonam Singh, Shalin Shah, Samreen Khanam, Priyanka Golhait, Tanvi Gaonker   +5 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome [PDF]

, 2016
PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study.
A v Cruz, A, Akaishi, P, Araujo Silva, W, Chodraui-Filho, S, Cintra, M, Duarte, AF, Molfetta, G, Toscano, A   +7 more
core   +1 more source

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

Ultrasound biomicroscopy image patterns in normal upper eyelid and congenital ptosis in the Indian population

Indian Journal of Ophthalmology, 2018
Purpose: To study the features of upper eyelid in healthy individual and different types of congenital ptosis in the Indian population using ultrasound biomicroscopy (UBM).
Abhidnya Surve, Rachna Meel, Neelam Pushker, M S Bajaj   +3 more
doaj   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Diplopia and eye movement disorders.

, 2004
Published ...
Danchaivijitr, C, Kennard, C
core   +2 more sources

Eyelid Retraction in Isolated Unilateral Congenital Blepharoptosis

Frontiers in Neurology, 2017
Isolated unilateral congenital ptosis is encountered relatively infrequently in clinical practice. It typically consists of a unilateral droopy eyelid, weak levator palpebrae superioris muscle function, lid lag, and an absent upper lid crease with no ...
Michael S. Salman, Michael S. Salman, Ian H. Clark, Ian H. Clark   +3 more
doaj   +1 more source