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Differential
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aneurysm
aneurysm, abdominal aortic
aneurysm, intracranial
aneurysm, intracranial, screening for
arachnodactyly
areflexia
arterial dissection
arterial dissection, carotid
arterial dissection, multiple
arterial dissection, recurrent
arterial dissection, renal artery
arterial dissection, ruptured
arterial dissection, vertebral
arthrogryposis multiplex
attention deficit disorder with hyperactivity
bruising
cardiomyopathy
cerebellar infarction
cerebrovascular accident
cerebrovascular accident, young adult
cerebrovascular disease
children
collagen vascular disease
congenital heart disease
congenital heart disease, CNS complications with
congenital myopathy
contractures, joint
cost effectiveness
cryptorchidism
delay in diagnosis
developmental retardation
diagnostic criteria
differential diagnosis
DNA probes
dysmorphic
ear, abnormal
ear, pain in
echocardiogram
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, classification
face, elongated
facial anomalies
facial appearance, abnormal
familial
feeding disorder
fistula, arterio-venous
fistula, arterio-venous, carotid-cavernous
fragile-X syndrome
gait, waddling
gastrointestinal perforation
gene
gene mutation
genetic counselling
genetic neurologic disorders
genetic screening
genetic testing
head circumference
headache
headache, throbbing
headache, unilateral
hearing loss
hemorrhagic diathesis
hepatosplenomegaly
hyperactivity
hypertelorism
hypertrophic cardiomyopathy
hypotonia
intellectual deficit
joint hypermobility
leg weakness, bilateral
lifestyle modification
malignant hyperpyrexia
Marfan syndrome
mental retardation
mental retardation, familial
misdiagnosis
molecular genetics
MRI
MRI, abnormal
multicore myopathy
multiminicore disease
muscle biopsy
muscle weakness
muscular dystrophy
muscular dystrophy, central nervous system abnormality
muscular dystrophy, classification
muscular dystrophy, congenital
muscular dystrophy, congenital, Fukuyama type
muscular dystrophy, congenital, Ullrich
myopathy
myopathy, centronuclear
neck pain
neck, webbed
neurologic complications of, systemic disease
neurologic disease, diagnoses of
next-generation sequencing
Noonan Syndrome
ophthalmoplegia
organ rupture
pain, flank
pain, head
paraspinal muscle weakness
pectus excavatum
pneumothorax
polyhydramnios
primary intracranial hypotension
prognosis
pulmonary stenosis
rectal prolapse
renal infarct
respiratory failure
retinal detachment
review article
scoliosis
seizure
seizure, children
seizure, injury following
short stature
simian crease
skin, biopsy
skin, hyperextensible
skin, lesions in neurologic disorders
skin, thin
skin, translucent
Southern immunoblot test
stare
systemic illness
testicular enlargement
treatment of neurologic disorder
valvulopathy
vasculopathy
visual impairment
vomiting, recurrent
Walker-Warburg syndrome
weakness
white matter disease
wound healing, poor
Showing articles 0 to 10 of 10

Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021

Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019

A 51-year-old Woman with Weakness and Stiff Neck
Neurol 85:e32-e36, Kassardjian, C.D. & Milone, M., 2015

Ehlers-Danlos Syndrome
NEJM 357:e12, Chen,C.-W. &Jao,S.-W., 2007

Congenital Muscular Dystrophy
eMedicine (Jan), Lopate,G., 2007

Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004

Spontaneous CSF Leaks: Underlying Disorder of Connective Tissue
Neurol 58:814-816, Mokri,B.,et al, 2002

A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
J Pediatr 129:611-614, Giangreco,C.A.,et al, 1996

Cerebrovascular Complications in Ehlers-Danlos Syndrome Type IV
Ann Neurol 38:960-964, North,K.N.,et al, 1995

A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992



Showing articles 0 to 10 of 10