Results 91 to 100 of about 18,875 (272)
Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]
, 2014 We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S +4 more
core +1 more source
Decompensated Esophoria as a Benign Cause of Acquired Esotropia.
American journal of ophthalmology-glaucoma, 2018 PURPOSE To determine informative clinical and magnetic resonance imaging (MRI) characteristics of patients with symptomatic adult acquired, comitant esotropia due to decompensated esophoria. DESIGN Retrospective, interventional case series.
M. H. Ali +4 more
semanticscholar +1 more source
Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.ABSTRACT Background and Aims CMT1H is a rare, autosomal dominant, demyelinating subtype of CMT caused by variants in FBLN5. Symptomatic cranial nerve involvement has never been reported in patients with CMT1H. Case Report We report a 45‐year‐old woman with a history of long‐standing diplopia.
Georgios Koutsis +11 more
wiley +1 more source
Análise das alterações oculares em pacientes portadores de Sindrome de Down. [PDF]
, 2005 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Queiroz, Andrei Alves de.
core
Dupilumab Reduces Pruritus in Twins With Sjögren–Larsson Syndrome
Pediatric Dermatology, Volume 43, Issue 2, Page 395-397, March/April 2026.ABSTRACT Sjögren–Larsson Syndrome (SLS), now termed ALDH3A2‐syndromic epidermal differentiation disorder (sEDD), is a rare genetic disorder marked by thickened skin, spasticity, and intellectual disability. Intractable pruritus is a nearly universal and debilitating feature of SLS that remains poorly managed by current therapies. We describe 4‐year‐old
Kennedy Gallagher +3 more
wiley +1 more source
Beyoglu Eye Journal, 2018 INTRODUCTION[|] Btx A uses strabismus for congenital esotropia or large angle horizontal strabismus in adults and acute paretic strabismus when surgical treatment of the ocular muscles is not yet possible.
Ebru Demet Aygıt
doaj +1 more source
Ocular screening tests of elementary school children [PDF]
This report presents an analysis of 507 abnormal retinal reflex images taken of Huntsville kindergarten and first grade students. The retinal reflex images were obtained by using an MSFC-developed Generated Retinal Reflex Image System (GRRIS ...
Richardson, J.
core +1 more source
The consequences of strabismus and the benefits of adult strabismus surgery [PDF]
, 2016 Strabismus has a negative impact on patients’ lives regardless of their age. Factors such as self-esteem, relationships with others, education and the ability to find employment may all be negatively affected by strabismus.
Astle, Andrew T. +2 more
core
, 2008 O artigo relata o caso clínico de uma criança do sexo feminino, cinco anos de idade que apresenta a rara síndrome de Wilderwanck que consiste da síndrome de Klippel-Feil associada à síndrome de Duane e deficiência auditiva.
CAPELLA, João Luís Curvacho +2 more
core +2 more sources
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT Papillorenal syndrome (PAPRS), or renal coloboma syndrome, is a rare autosomal dominant disorder caused by PAX2 mutations. It classically manifests with renal hypodysplasia and optic nerve anomalies. However, recent literature suggests an expanding phenotypic spectrum.
Nadira Sultana +2 more
wiley +1 more source