Cargando…

Retinal Vascular Tortuosity in a Patient with Weill-Marchesani Syndrome

Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder with characteristic phenotypic skeletal and ocular manifestations. A 28-year-old myopic female presented with an 8-month history of bilateral blurred vision. On examination, she was noted to be of short stature with brachydactyly....

Descripción completa

Detalles Bibliográficos
Autores principales:	Gallagher, Kevin, Salam, Tahrina, Sin, Barron, Gupta, Sandy, Zambarakji, Hadi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2011
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350144/ https://www.ncbi.nlm.nih.gov/pubmed/22606482 http://dx.doi.org/10.1155/2011/952543

Ejemplares similares

A Case of Weill-Marchesani Syndrome with Inversion of Chromosome 15
por: Chung, Jae Lim, et al.
Publicado: (2007)

ADAMTS10-mediated tissue disruption in Weill–Marchesani syndrome
por: Mularczyk, Ewa J, et al.
Publicado: (2018)

Corneal Microstructural Analysis in Weill-Marchesani Syndrome by In Vivo Confocal Microscopy
por: Roszkowska, Anna M, et al.
Publicado: (2011)

Fibrin Glue-Assisted Intraocular Lens Fixation in Weill–Marchesani Syndrome
por: Kalamkar, Charudutt, et al.
Publicado: (2019)

Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review
por: Guo, Hui, et al.
Publicado: (2015)

Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation
por: Bhakta, Pradipta, et al.
Publicado: (2011)

Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance
por: Yang, Guo-Yuan, et al.
Publicado: (2021)

A Pedigree Report of a Rare Case of Weill–Marchesani Syndrome with New Compound Heterozygous LTBP2 Mutations
por: Lin, ZhiHong, et al.
Publicado: (2021)

Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature
por: Motawa, Mossa N.A. Al, et al.
Publicado: (2021)

Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions
por: Cain, Stuart A., et al.
Publicado: (2012)

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome
por: Steinkellner, Hannes, et al.
Publicado: (2015)

Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the ADAMTS17 gene: A case report
por: Yu, Xiaowei, et al.
Publicado: (2022)

Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome
por: Shah, Mohd Hussain, et al.
Publicado: (2014)

Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome
por: Li, Mojiang, et al.
Publicado: (2022)

Abnormal lens thickening in a child with Weill–Marchesani syndrome 4: A 3-year follow-up case report
por: Huang, Junting, et al.
Publicado: (2023)

Tumour necrosis factor alpha, lipid peroxidation and NO* are increased and associated with decreased free-radical scavenging enzymes in patients with Weill-Marchesani syndrome.
por: Evereklioglu, Cem, et al.
Publicado: (2004)

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features
por: Evans, Daniel R., et al.
Publicado: (2020)

Acute Macular Neuroretinopathy in a Patient with Retinal Vascular Tortuosity
por: Karska-Basta, Izabella, et al.
Publicado: (2021)

A Novel Missense Mutation in the TGF-β-binding Protein-Like Domain 3 of FBN1 Causes Weill–Marchesani Syndrome with Intellectual Disability
por: Hassani, Mahdieh, et al.
Publicado: (2023)

A Rare Coexistence of Isolated Unilateral Conjunctival Telangiectasia and Retinal Vascular Tortuosity
por: Hekimsoy, Hilal Kilinç, et al.
Publicado: (2020)

Unilateral congenital non-syndromic retinal vessel dilation and tortuosity
por: Waisberg, Ethan, et al.
Publicado: (2021)

Familial retinal arteriolar tortuosity and quantification of vascular tortuosity using swept-source optical coherence tomography angiography
por: Saraf, Steven S., et al.
Publicado: (2019)

Retinal vascular tortuosity in obstructive sleep apnea
por: Mohsenin, Amir, et al.
Publicado: (2013)

Unilateral vascular abnormality: A case of peripheral retinal arteriolar tortuosity associated with a prepapillary vascular loop
por: Patel, Parth S., et al.
Publicado: (2020)

Familial Retinal Arteriolar Tortuosity with Acute Hippocampal Infarction
por: Kim, Tae Hee, et al.
Publicado: (2017)

Multiple retinal hemorrhages in bilateral congenital venous tortuosity
por: Asensio-Sánchez, Víctor Manuel, et al.
Publicado: (2017)

Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan
por: Al Kaissi, Ali, et al.
Publicado: (2019)

A Case of Carotid Aneurysm in Familial Retinal Arterial Tortuosity
por: Seo, Je Hyun, et al.
Publicado: (2009)

Metabolic syndrome coexists with adult Léri–Weill dyschondrosteosis: A case report
por: Wang, Dongdong, et al.
Publicado: (2020)

Retinal Vascular Tortuosity Index Change after Idiopathic Epiretinal Membrane Surgery: Does Internal Limiting Membrane Peeling Affect Retinal Vascular Tortuosity?
por: Yanık, Özge, et al.
Publicado: (2023)

Retinal arterial tortuosity in Ehlers–Danlos syndromes
por: Ghoraba, Hashem H., et al.
Publicado: (2022)

Arterial tortuosity syndrome: A rare entity
por: Marwah, Ashutosh, et al.
Publicado: (2008)

An International Virtual Classroom: The Emergency Department Experience at Weill Cornell Medicine and Weill Bugando Medical Center in Tanzania
por: Jiang, Lynn G., et al.
Publicado: (2021)

Response to Galbraith and Weill
por: Harber, Philip, et al.
Publicado: (2009)

Retinal Vascular Tortuosity and Diameter Associations with Adiposity and Components of Body Composition
por: Tapp, Robyn J., et al.
Publicado: (2020)

Computational assessment of the retinal vascular tortuosity integrating domain-related information
por: Ramos, L., et al.
Publicado: (2019)

Maxillary Mucocele with Orbital Floor Remodelling
por: Salam, Tahrina, et al.
Publicado: (2012)

Arterial tortuosity syndrome in two Italian paediatric patients
por: Ritelli, Marco, et al.
Publicado: (2009)

A rare case of arterial tortuosity syndrome in an adult
por: Elnaggar, Mohamed Elsayed, et al.
Publicado: (2022)

A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene
por: Choi, Won Bok, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_8af920pt92njq9nlcboi150qdq