Results 71 to 80 of about 3,218 (207)

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

Unilateral congenital dacryocele

PAMJ Clinical Medicine, 2020
We report a case of a healthy, full term, 3 months old boy, who was referred for evaluating a bluish-gray cystic mass, measuring approximately 1-cm just below the medial canthal tendon of the right eye, present since birth.
Narjisse Taouri
doaj   +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

Interventionelle radiologische Therapie der Tränenwege [PDF]

, 2018
Zusammenfassung : Der Augenpatient, in dessen Diagnostik und Therapie der Radiologe involviert ist, leidet gewöhnlich unter ständigem Tränenträufeln, der Epiphora. Die Epiphora ist ein häufiges Krankheitsbild und wird bei ca.
Lachmund, Ulrich, Mironov, Angel, Remonda, Lucas, Schroth, Gerhard, Wilhelm, Kai   +4 more
core  

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

Canaliculus obstruction etiology [PDF]

, 2001
Purpose: There are few Brazilian studies about canaliculus obstruction etiology. To analyze the various etiologies of the obstruction was the goal in the present study.
Bison, Simone, Scarpi, Marinho Jorge, Soccol, Ovídio, Tongu, Maira Tiyomi Sacata   +3 more
core   +4 more sources

Prevalence of Amblyogenic Risk Factors in Congenital Nasolacrimal Duct Obstruction in a Developing Country [PDF]

, 2021
Usha Kaul Raina, Shruti Bhattacharya, Shantanu Gupta, Varun Saini, Banu Pavitra, Kumar Ravinesh, Russell Da Cruz   +6 more
openalex   +1 more source

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

A rare complication of hemolacria after Le fort I osteotomy: a case presentation

Maxillofacial Plastic and Reconstructive Surgery, 2022
Background Nasolacrimal duct obstruction (NDO) is a common pathology preventing the proper drainage of the tears, and its main symptom is epiphora. Secondary acquired nasolacrimal duct obstruction (SANDO) can be due to a variety of causes including ...
May S. Helal, Ramy M. Gaber, Marwa El-Kassaby   +2 more
doaj   +1 more source

OCULOPLASTIC TRAINING AND ITS ROLE IN EYE CARE SERVICES IN A NIGERIA TERTIARY HOSPITAL [PDF]

, 2018
Oculoplasty subspecialty in Ophthalmology was barely 7 years in Nigeria. National statistics show an increased number of cases that should have benefitted from this expertise that is rare.
Fasasi, Monsudi Kehinde, Olusola, Ayodapo Abayomi   +1 more
core   +2 more sources