Results 71 to 80 of about 1,996 (198)

A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 13, Issue 6, June 2025.
A novel synonymous variant of PAX2 in monochorionic diamniotic twins with bilateral renal dysplasia was demonstrated to be associated with PAX2‐disorders through the integration of clinical findings and minigene assay results. ABSTRACT Background Paired Box 2 (PAX2, NM_000278.5) encodes paired box gene 2, one of many human homologs of the Drosophila ...
Wencong Yao, Bocheng Xu, Hao Wang, Shanling Liu, He Wang, Jingqun Mai, Xihan Wang, Xin Chen, Zhu Zhang   +8 more
wiley   +1 more source

Persistent fetal vasculature with microphakia, lacrimal drainage disorder, and congenital ptosis: An unusual presentation

Indian Journal of Ophthalmology. Case Reports, 2021
Persistent fetal vasculature (PFV) is a rare congenital ocular anomaly, characterized by failure of regression of embryonal hyaloid vasculature and is known to cause a broad range of anomalies.
Surbhi Khurana, Parul C Gupta, Jagat Ram
doaj   +1 more source

On the Maxillofacial Development of Mice, Mus musculus

Journal of Morphology, Volume 286, Issue 3, March 2025.
This study focused on the craniofacial development of the mouse (Mus musculus), particularly the maxillofacial region. Using three‐dimensional reconstructions of histological sections combined with whole‐mount staining, we provided a detailed description of skeletal, neural, and vascular formation from the pharyngula (9.0 dpc) to late fetal stages (18 ...
Hiroki Higashiyama, Shunya Kuroda, Akiyasu Iwase, Naoki Irie, Hiroki Kurihara   +4 more
wiley   +1 more source

Retrospective study in 1020 cases on the rate of surgical site infections after lacrimal surgery without prophylactic systemic antibiotics

Acta Ophthalmologica, Volume 102, Issue 8, Page 963-967, December 2024.
Abstract Background/Aims Data regarding the effectiveness of prophylactic systemic antibiotics (PSA) in lacrimal surgery is scarce. Therefore, we determined the postoperative surgical site infection (SSI) rate in lacrimal surgery without PSA. Methods We retrospectively analysed files of patients who underwent external (extDCR) or endoscopic endonasal ...
R. O. B. de Keizer, J. S. Suwandi, J. C. van Limpt, C. Kluis, G. Hötte, A. P. Nagtegaal, D. Paridaens   +6 more
wiley   +1 more source

Success rates of endoscopic-assisted probing for congenital nasolacrimal duct obstruction in children

, 2013
Objective: To determine the success rate of initial probing in children with congenital nasolacrimal duct obstruction at different ages, using nasal endoscopy.
Blaikie, A., Sutherland, M. S.M., Haddow, K., Theodoropoulou, S.   +3 more
core   +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

Sella turcica and facial bones: Morphological integration in the human fetal cranium

Orthodontics &Craniofacial Research, Volume 27, Issue 6, Page 938-949, December 2024.
Abstract Objectives The cranial base plays a significant role in facial growth, and closer analyses of the morphological relationship between these two regions are needed to understand the morphogenesis of the face. Here, we aimed to study morphological integration between the sella turcica (ST) and facial bones during the fetal period using geometric ...
Natsuko Utsunomiya, Motoki Katsube, Yutaka Yamaguchi, Masanori Kumakiri, Naoki Morimoto, Shigehito Yamada   +5 more
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

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

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