Results 41 to 50 of about 14,395 (225)

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, EarlyView.
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

Endoilluminator-assisted pediatric cataract surgery with hazy cornea

Indian Journal of Ophthalmology, 2018
The purpose of this study was to demonstrate the usefulness of endoilluminator in pediatric cataract with hazy corneas. We describe a series of three cases of pediatric cataract where visualization of intraocular structures was inadequate under the ...
Jyoti Himanshu Matalia, Vimal Krishna Rajput, Himanshu Matalia, Bhujang K Shetty   +3 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Posterior Capsular Opacification in Preschool- and School-Age Patients after Pediatric Cataract Surgery without Posterior Capsulotomy

, 2016
Objectives: We aimed to evaluate the development of posterior capsular opacification (PCO) in preschool- and school-age children with cataract who underwent cataract surgery without posterior capsulotomy and anterior vitrectomy.
Muhammed Batur, Adem Gül, Erbil Seven, Tekin Yaşar, Ertuğrul Can   +4 more
core   +1 more source

Previous studies on refractive changes after unilateral pediatric cataract surgery.

, 2022
Previous studies on refractive changes after unilateral pediatric cataract surgery.
Sun Young Shin (1571716), Shin Hae Park (9137575), Hae Ri Yum (2600932), Yooyeon Park (13206004)   +3 more
core   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Keratometry in Pediatric Eyes With Cataract [PDF]

Archives of Ophthalmology, 2008
To report the keratometry data of pediatric cataractous eyes (randomly selected single eye of bilateral cases; cataractous eye of unilateral cases) and to compare the keratometry data of the unilateral cataractous eye with the corresponding noncataractous fellow eye.Retrospective review of preoperative data of patients who had undergone cataract ...
Rupal H, Trivedi, M Edward, Wilson
openaire   +2 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Treatment of a Large Cohort of Childhood Chronic Noninfectious Uveitis in a Multicentric Large Study: Adalimumab Versus Methotrexate as First‐Line Therapy

Arthritis &Rheumatology, EarlyView.
Objective Treatment of childhood chronic idiopathic uveitis (cCIU) is predominantly based on studies in juvenile idiopathic arthritis–associated uveitis and expert opinion. Our aim was to report the treatment outcomes of our cohort of cCIU. Methods Retrospective multicenter study involving the rheumatology and ophthalmology units at Florence, Italy ...
Ilaria Maccora, Catherine Guly, Cinzia de Libero, Giulia Carreras, Athimalaipet V. Ramanan, Gabriele Simonini   +5 more
wiley   +1 more source