Results 91 to 100 of about 8,294 (239)

Childhood glaucoma: Implications for genetic counselling

Clinical Genetics, Volume 106, Issue 5, Page 545-563, November 2024.
Venn diagram representation of genes for which pathogenic variants have been identified to cause various types of childhood glaucoma. This diagram represents the genetic and phenotypic heterogeneity of childhood glaucoma illustrating the need for informed genetic counselling and testing as part of a multidisciplinary approach.
Giorgina Maxwell, Emmanuelle Souzeau
wiley   +1 more source

Endonasal endoscopic dacryocystorhinostomy in the paediatric population [PDF]

Rhinology Online, 2019
Background: Congenital nasolacrimal duct obstruction is frequent and paediatric endonasal endoscopic dacryocystorhinostomy (DCR) is increasingly used after conservative treatment failure.
Carla C. Moreira, Isabel M. Correia, Inês S. Cunha, Herédio Sousa, Ezequiel Barros   +4 more
doaj   +1 more source

Congenital Nasolacrimal Duct Obstruction [PDF]

Archives of Ophthalmology, 2012
To characterize anatomical abnormalities of the distal nasolacrimal duct (NLD) in children with congenital obstruction using high-resolution computed tomographic imaging.The anatomy of the bone and soft tissue of the NLD and the postductal anatomy of the inferior meatus in 6 children with a wide spectrum of NLD obstructions were imaged by computed ...
Avery H, Weiss, Francine, Baran, John, Kelly   +2 more
openaire   +2 more sources

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)

American Journal of Medical Genetics Part A, Volume 194, Issue 10, October 2024.
Abstract Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016–2023) and by collaborating specialists have facilitated deep phenotyping, genotyping and
Angela E. Lin, Eleanor R. Scimone, Robyn P. Thom, Duraisamy Balaguru, T. Bernard Kinane, Peter P. Moschovis, Michael S. Cohen, Weizhen Tan, Cole D. Hague, Katelyn Dannheim, Lynne L. Levitsky, Evelyn Lilly, Daniel V. DiGiacomo, Kara M. Masse, Sarah M. Kadzielski, Claire A. Zar‐Kessler, Leo C. Ginns, Ann M. Neumeyer, Mary K. Colvin, Jack S. Elder, Christopher P. Learn, Hongmei Mou, Kathryn M. Weagle, Karen A. Buch, William E. Butler, Kenda Alhadid, Patricia L. Musolino, Sadia Sultana, Dhrubajyoti Bandyopadhyay, Otto Rapalino, Zachary S. Peacock, Elizabeth L. Chou, Gena Heidary, Aaron T. Dorfman, Shaine A. Morris, James D. Bergin, Jonathan H. Rayment, Lisa A. Schimmenti, Mark E. Lindsay, MGH Myhre Syndrome Study Group, Luisa Paredes Acosta, Jennifer A. Bassetti, Sarah Bowdin, Joy A. Bress, Joseph A. Camarda, Joanne S. Chiu, C. Eduardo Corrales, Gregory Costain, Mary Beth P. Dinulos, Rajiv Devanagondi, Emily S. Doherty, John Dykes, Ann‐Christine Duhaime, Robert F. English, Elizabeth Fieg, Nora D. B. Friedman, Carl P. Garabedian, Samantha Glowacki, Barbara R. Gottlieb, Mary Hope Griffin, Frances J. Hayes, Stephanie R. Hicks, Alicia M. Hinze, Brigette A. Jason, Joel Krier, Kristen Lindgren, Michael Lyons, Adnan Majid, Hannah C. Mannem, Marie McDonald, Vinod Misra, Amy Morgan, Barbara J. Nath, Michele Ploutz, Eloise J. Prijoles, Margaret B. Pulsifer, Alicia M. Quesnel, Farrah Rajabi, Mersedeh Rohanizadegan, Ana Maria Rosales, Holly Rothermel, Edith Schussler, Elizabeth A. Sellars, Joseph Shieh, Stephanie Sherrill, Heidi Taska‐Tench, Matthew Thompson, George E. Tiller, Stephanie E. Vallee, David Viskochil, Stephanie Ware, Rachel C. Whooten, Samuel Yang, Elaine H. Zackai, Dala Zakaria   +94 more
wiley   +1 more source

NEONATAL RESPIRATORY DISTRESS ... A CASE FOR OPHTHALMOLOGY? [PDF]

, 2014
Introdução: O dacriocistocelo congénito é uma obstrução rara do canal lacrimo-nasal no recém-nascido, que pode dar sintomatologia precoce. A fisiologia deve-se à obstrução proximal e distal do canal lacrimo-nasal.
Gonçalves, C., Reis, M., Vaz, A.
core  

Congenital Nasolacrimal Duct Obstruction at Prince Rashed Hospital, Irbid, [PDF]

, 2008
Objectives: To estimate the frequency of congenital nasolacrimal duct obstruction (CNLDO) and to assess the results of its management. Material and Methods: A prospective study of 80 consecutive patients with congenital nasolacrimal duct ...
Bataineh, HA, Hammory, A, Nusier, Z
core   +2 more sources

Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant

Molecular Genetics &Genomic Medicine, Volume 12, Issue 9, September 2024.
Whole exome sequencing revealed a pathogenic variant c.1143G>A (p.Trp381*) in the RAD21 gene. We reviewed 36 patients with CdLS related to RAD21 gene variants reported worldwide. Frameshift variants constituted the predominant variant type, representing 36% (13/36) of cases.
Xinyu Yue, Meiping Chen, Xiaoan Ke, Hongbo Yang, Fengying Gong, Linjie Wang, Lian Duan, Hui Pan, Huijuan Zhu   +8 more
wiley   +1 more source

Endoscopic-assisted probing for congenital nasolacrimal duct obstruction [PDF]

Eye, 2005
To determine the success rate of initial probing in children with congenital nasolacrimal duct obstruction (CNLDO) at different ages using nasal endoscopy, and to identify the anatomical sites of blockage within the drainage system.A total of 87 eyes from 67 consecutive children with CNLDO underwent endoscopic nasolacrimal duct (NLD) probing under ...
E J, Wallace, A, Cox, P, White, C J, Macewen   +3 more
openaire   +2 more sources

Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis

American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.
Abstract CHARGE syndrome is a rare multi‐system condition associated with CHD7 variants. However, ocular manifestations and particularly ophthalmic genotype–phenotype associations, are not well‐studied. This study evaluated ocular manifestations and genotype–phenotype associations in pediatric patients with CHARGE syndrome. A retrospective chart review
Kunal Kanwar, Saffiya Bashey, Brenda L. Bohnsack, Andy Drackley, Alexander Ing, Safa Rahmani, Hantamalala Ralay Ranaivo, Patrick McMullen, Andrew Skol, Kailee Yap, Valerie Allegretti, Jennifer L. Rossen   +11 more
wiley   +1 more source

Congenital Nasolacrimal Duct Obstruction – Early Diagnosis and Graded Therapeutic Approach as Key Points for Successful Management

Seminars in Ophthalmology
Purpose Epiphora in childhood is a frequent symptom that is typically associated with Congenital nasolacrimal duct obstruction (CNLDO). Nevertheless, inflammatory pathologies of the ocular surface as well as inside the eye, or even congenital glaucoma ...
J. Heichel
semanticscholar   +1 more source