نتایج جستجو برای: neurofibromatosis type 1

تعداد نتایج: 3649069  

Journal: :Case Reports in Orthopedic Research 2018

Journal: :Postgraduate Medical Journal 2001

Introduction:Neurofibromatosis is a genetic disease characterized by multifocal benign tumors of peripheral nerves, called neurofibromas, and pigmented spots on the skin which inherited as autosomal-dominant. The most common form of the disease is neurofibromatosis type 1, also known as von Recklinghausen's disease of the skin. When an individual has small number of lesions in a limited region ...

Journal: :iranian journal of child neurology 0
siba prosad paul 1. specialty trainee year 8 in paediatrics, yeovil district hospital, yeovil, ba21 4at, uk shameem ahmed 2. consultant neurosurgen, gauhati medicalcollege, guwahati, 781032, india

how to cite this article: paul sp, ahmed s, painless loss of vision as the first presentation of undiagnosed neurofibromatosis 1 in a child. iran j child neurol. autumn 2015;9(4):58-60. abstract objective a 10 year old presented with painless loss of vision as the first manifestation of neurofibromatosis 1 (nf1). clinical assessment detected diagnostic features of nf1 and magnetic resonance ima...

Journal: :Pediatrics 2009
Virginia C Williams John Lucas Michael A Babcock David H Gutmann Bruce Korf Bernard L Maria

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a worldwide incidence of approximately 1 per 2500 to 3000 individuals. Caused by a germ-line-inactivating mutation in the NF1 gene on chromosome 17, the disease is associated with increased morbidity and mortality. In the past several years, significant progress has been made in standardizing management of the major clinical...

Bagherani Nooshin Yaghoobi Reza

Segmental neurofibromatosis type I (SNF-I) is a rare variant of neurofibromatosis (NF). It is classified as NF type V and defined as cafe'-au-lait macules and/or neurofibromas in a single ,unilateral segment of the body .We report two cases with SNF-I with striking similar manifestations.

Journal: :Pediatric Neurology Briefs 1998

Journal: :Annals of Maxillofacial Surgery 2018

Journal: :Journal of IMAB - Annual Proceeding (Scientific Papers) 2009

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