Results 111 to 120 of about 24,619,681 (234)

Optical Coherence Tomography Characteristics of Epiretinal Membranes in Neurofibromatosis 2

, 2008
Neurofibromatosis 2 is a neurocutaneous disorder that demonstrates unique ophthalmic manifestations. Several authors have noted a higher than expected incidence of epiretinal membranes in this population. In this brief case series, the authors document a
Sander R. Dubovy, Audina M. Berrocal, Amy C. Schefler, Schefler, Amy C, Dubovy, Sander R, Berrocal, Audina M   +5 more
core   +1 more source

ENFERMEDAD DE VON RECKLINGHAUSEN Y EMBARAZO

Revista Chilena de Obstetricia y Ginecología, 2002
La enfermedad de Von Recklinghausen (neurofibromatosis) es una condición autosómica dominante la cual ha tenido variables expresiones clínicas, con manifestaciones que van de lesiones cutáneas moderadas a complicaciones ortopédicas severas y alteraciones
Gregorio Evans M., Ronald Poulsen R., Cristián Mardones S.   +2 more
doaj  

Neurofibromatosis 2: rare constellation of findings with extensive cranial nerve involvement. [PDF]

Radiol Case Rep, 2021
Hiremath R, Dakshin V, Agrawal S.
europepmc   +1 more source

Walsh & Hoyt: Neurofibromatosis

, 2005
Clinical and genetic studies had for some time suggested two forms of neurofibromatosis. In 1988, a panel of specialists adopted a classification of the two types (Table 38.1) (2). The genes for each form were subsequentlycloned. Neurofibromatosis type 1
John Kerrison, MD
core   +1 more source

A collision of vestibular schwannoma and meningioma in the cerebellopontine angle: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2022
SHI Wei , WANG Shan, YAO Jing⁃jing, GUO Yi , YANG Xue⁃jun   +4 more
doaj   +1 more source

Optical coherence tomography significance in managing complex neurofibromatosis 2-related papilledema: Report of a case. [PDF]

JRSM Open, 2021
Maria Bacci G, Giordano F, Sardi I, Evans G, Pathmanaban O, Fonte C, Trabalzini F, Nappini S, Mura R, Caputo R.   +9 more
europepmc   +1 more source

A large multilobulated cutaneous nodule in infancy

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Hannah Wahida, Andy Yan, Stephan Forchhammer   +2 more
wiley   +1 more source

Loose Anagen Hair Syndrome: A Scoping Review

Pediatric Dermatology, EarlyView.
ABSTRACT Loose anagen hair syndrome (LAHS) is a rare, non‐scarring alopecia that may occur sporadically or follow autosomal dominant inheritance. The objective of this study was to review the etiology, clinical presentation, diagnostic features (including trichoscopy, trichogram, and microscopy), natural history, and treatment outcomes of LAHS.
Romy Shenderey, Hailey Land, Eric McMullen, Daniela Giansante, Grace Xiong, Katya Peri, Raquel Ocvirk, Justin Trasolini, Laurence Mainville, Shireen Dumont, Narachai Julanon, Cathryn Sibbald, Jeffrey Donovan   +12 more
wiley   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2454-2463, November 2026.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2443-2453, November 2026.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source