Literature DB >> 21389750

Moyamoya disease in children with congenital dwarfing conditions.

Parham Moftakhar1, Edward R Smith, Armen Choulakian, R Michael Scott, Moise Danielpour.   

Abstract

Congenital dwarfisms can be associated with a variety of vascular anomalies. Here, we describe 2 patients with congenital dwarfisms who presented with moyamoya syndrome and underwent indirect intracranial revascularization. The pathogenesis of moyamoya syndrome in this population is not well understood, but it is a major cause of stroke and early death in these patients, making their timely diagnosis and management critical.
Copyright © 2011 S. Karger AG, Basel.

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Year:  2011        PMID: 21389750     DOI: 10.1159/000322017

Source DB:  PubMed          Journal:  Pediatr Neurosurg        ISSN: 1016-2291            Impact factor:   1.162


  9 in total

1.  Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.

Authors:  Angela L Duker; Dagmar Kinderman; Christy Jordan; Tim Niiler; Carissa M Baker-Smith; Louise Thompson; David A Parry; Ricki S Carroll; Michael B Bober
Journal:  Orphanet J Rare Dis       Date:  2021-05-20       Impact factor: 4.123

2.  Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report.

Authors:  Raquel Segovia-Ortí; Natalia Espinosa de Los Monteros Aliaga Cano; Javier Lumbreras; Diego de Sotto-Esteban; María Dolores Rodrigo
Journal:  J Pediatr Genet       Date:  2020-09-07

3.  Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.

Authors:  Fei-Feng Li; Xu-Dong Wang; Min-Wei Zhu; Zhi-Hong Lou; Qiong Zhang; Chun-Yu Zhu; Hong-Lin Feng; Zhi-Guo Lin; Shu-Lin Liu
Journal:  Metab Brain Dis       Date:  2015-08-01       Impact factor: 3.584

Review 4.  Moyamoya Biomarkers.

Authors:  Edward R Smith
Journal:  J Korean Neurosurg Soc       Date:  2015-06-30

Review 5.  Moyamoya disease and syndromes: from genetics to clinical management.

Authors:  Stéphanie Guey; Elisabeth Tournier-Lasserve; Dominique Hervé; Manoelle Kossorotoff
Journal:  Appl Clin Genet       Date:  2015-02-16

6.  Occult moyamoya disease causing fulminant infarction after septorhinoplasty.

Authors:  Gabriel Djedovic; Ralph Verstappen; Johannes Matiasek; Timm O Engelhardt; Gerhard Pierer; Ulrich M Rieger
Journal:  Case Reports Plast Surg Hand Surg       Date:  2014-12-03

Review 7.  Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

Authors:  Michael B Bober; Andrew P Jackson
Journal:  Curr Osteoporos Rep       Date:  2017-04       Impact factor: 5.096

8.  Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome.

Authors:  Sciacca Francesca Luisa; Ambra Rizzo; Gloria Bedini; Fioravante Capone; Vincenzo Di Lazzaro; Sara Nava; Francesco Acerbi; Davide Sebastiano Rossi; Simona Binelli; Giuseppe Faragò; Andrea Gioppo; Marina Grisoli; Maria Grazia Bruzzone; Paolo Ferroli; Chiara Pantaleoni; Luigi Caputi; Jesus Vela Gomez; Eugenio Agostino Parati; Anna Bersano
Journal:  Int J Mol Sci       Date:  2018-11-20       Impact factor: 5.923

Review 9.  Pathophysiology of Vascular Stenosis and Remodeling in Moyamoya Disease.

Authors:  Brandon M Fox; Kirsten B Dorschel; Michael T Lawton; John E Wanebo
Journal:  Front Neurol       Date:  2021-09-03       Impact factor: 4.003

  9 in total

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