Results 61 to 70 of about 257,574 (163)

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 ‐Related Noonan Syndrome

Clinical Genetics, Volume 110, Issue 4, Page 502-507, October 2026.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Frontal suspension for congenital ptosis using an expanded polytetrafluoroethylene (Gore-Tex®) sheet: one-year follow-up

, 2013
Kazuaki Nakauchi,1 Hidenori Mito,2 Osamu Mimura11Hospital of Hyogo College of Medicine, Hyogo, 2Ide Eye Hospital, Yamagata, JapanBackground: The frontalis suspension technique is the surgical method of choice in patients with ptosis and a levator ...
Nakauchi K, Mito H, Mimura O
core  

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1989-1999, September 2026.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Pragmatic Phenotype–Electrophysiology–Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single‐Center Study in China

CNS Neuroscience &Therapeutics, Volume 32, Issue 9, September 2026.
In 36 Chinese pediatric CMS patients, integrated phenotype, RNS, and genomic assessment revealed marked genetic heterogeneity across 17 CMS‐associated genes and frequent VUS‐related uncertainty. Genotype‐informed therapy improved MG‐ADL scores, while CHAT‐CMS identified a high‐risk subgroup for early respiratory failure and mortality.
Liya Cui, Kaiyue Ma, Xiaona Fu, Lin Ge, Bingbing Jia, Wenna Ma, Lei Yang, Zhimei Liu, Junlan Lv, Wenmiao Xu, Lijuan Wang, Guangyuan Zhao, Jiuwei Li, Jie Wu, Quan Wang, Changhong Ding, Xiaotun Ren, Xinming Shen, Hui Xiong   +18 more
wiley   +1 more source

Effect of Unilateral Congenital Ptosis on Ocular Higher Order Aberrations in Children [PDF]

, 2013
To analyse the effect of congenital unilateral ptosis on the ocular higher order aberrations (HOA) and to compare these eyes with normal fellow eyes this study has been performed.
Prakash, Gaurav, Packiyalakshmi, Sathiya, Agarwal, Athiya, Agarwal, Amar, Vajpayee Boptm, Neha, Ashok Kumar, Dhivya   +5 more
core   +2 more sources

Refractive status and ocular biometric parameters in children undergoing the levator muscle-conjoint fascial sheath complex suspension

BMC Ophthalmology
Purpose To evaluate the effect of the levator muscle-conjoint Fascial Sheath Complex Suspension on ocular biometric parameters and refractive status in children with congenital blepharoptosis.
Ting Fu, Shunguo Ma, Huiyang Ai, Yuan Zhang, Jingmin Guo, Yan Jiang, Rong Liu   +6 more
doaj   +1 more source

Congenital ptosis associated with fatty infiltration of levator eyelid muscle [PDF]

, 2006
OBJETIVO: Quantificar a gordura presente no músculo levantador da pálpebra de portadores de ptose congênita, correlacionando este achado com fatores clínico-epidemiológicos desta afecção.
Leite, Cristiano Pinheiro, Padovani, Carlos Roberto [UNESP], Padovani, Carlos Roberto, Marques, Mariângela Esther Alencar, Leite, Cristiano Pinheiro [UNESP], Pellizzon, Claudia Helena, Pellizzon, Claudia Helena [UNESP], Schellini, Silvana Artioli, Schellini, Silvana Artioli [UNESP], Marques, Mariângela Esther Alencar [UNESP]   +9 more
core   +1 more source

Causal Association Between Lifestyle Behavior and Potential Risk Factors With Blepharoptosis

Eye &ENT Research, Volume 3, Issue 3, Page 155-162, September 2026.
ABSTRACT Background Blepharoptosis is among the most common disorders of eyelid malposition that may influence appearance and damage visual function, and both of these can have negative effects on the quality of life. Various types of blepharoptosis have been reported, including neurogenic, traumatic, congenital, mechanical, psychogenic, and myogenic ...
Shiqi Hui, Zhijia Hou, Dong‐mei Li
wiley   +1 more source

Bilateral Fist Lid-Lift: A Novel Compensatory Behavior in an Infant with Blepharophimosis Syndrome

Children
Background/Objectives: To describe a previously unreported compensatory behavior used by an infant with severe bilateral congenital ptosis associated with blepharophimosis syndrome (BPES). Methods: Observational case report of a 4.5-month-old infant with
Biljana Kuzmanović Elabjer, Daliborka Miletić, Mirjana Bjeloš, Mladen Bušić, Iva Bulat, Adrian Elabjer   +5 more
doaj   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2250-2258, September 2026.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source