Neudle.com: "dwarfism"

Differential
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abdominal distention

abducens nerve paralysis

adverse drug reaction

alcohol

alcohol, neurologic complications with

aqueduct of Sylvius, stenosis

atlanto-axial subluxation

autoimmune disease

basal ganglia, calcification of

basal ganglia, lesion, bilateral

basilar impression

Bassen-Kornzweig syndrome

battered child syndrome

behavior, combative

behavioral disorder

bitemporal visual field defect

bone marrow transplantation

brachial plexus neuropathy

brachial plexus neuropathy, familial

calcification, intracranial

carbonic anhydrase II deficiency

CAT scan, false negative

cataracts

celiac disease, adult

celiac disease, childhood

cerebellar ataxia, primary

cerebellar degeneration

cerebral cortical atrophy

cerebral palsy

cerebrospinal fluid, cytology

cerebrospinal fluid, elevated protein of

cerebrospinal fluid, lactic acid concentration

cerebrospinal fluid, pressure increased

cerebrovascular accident

cerebrovascular accident, familial occurrence

cerebrovascular accident, infancy and childhood

cerebrovascular accident, mimics

cerebrovascular accident, multiple

cerebrovascular accident, recurrent

cerebrovascular accident, young adult

chemotherapy, CNS treatment and complications with

child abuse

children

choreoathetosis

chorionic gonadotropin

chromosomal abnormality

chromosome 14

chromosome 15

chromosome 8

chronic graft versus host disease

chronic progressive external ophthalmoplegia

cisternogram, radionuclide

cleft palate

Clinical Pathologic Conference(C.P.C.)

Cockayne's syndrome

codfish vertebrae

cold hands sign

collagen vascular disease

coma

complications

compression fracture

congenital heart disease

congenital heart disease, CNS complications with

congenital malformation

corpus callosum, atrophy of

corpus callosum, thinning

cortical blindness

cranial nerve palsies

cultured skin fibroblasts

cystinuria

cytochrome c oxidase

cytochrome c oxidase, deficiency

deafmute

deafness

degenerative diseases of CNS

dementia

dementia, rapidly progressive

dentate nuclei, lesion of

dermatitis herpetiformis

developmental milestones, loss of

developmental retardation

differential diagnosis

difficulty climbing stairs

diplopia

dislocated hip, congenital

dissociated sensory loss

distal muscle atrophy

distal muscle weakness

dopa responsive dystonia

drooling

dural sinus thrombosis

electroencephalogram, abnormalities of

encephalopathy, progressive

enzyme, muscle disease

eye movement, disorders of

eyes, sunken

facial anomalies

facial appearance, abnormal

fetal alcohol syndrome

follicle stimulating hormone

gastrointestinal disease, neurologic complications

gastrointestinal motility

genetic diagnosis, prenatal

genetic neurologic disorders

glycogen debranching enzyme deficiency

glycogen storage disease

Gowers maneuver

gray hair

growth hormone

growth hormone deficiency

head injury, hypothalamic and pituitary damage

head injury, pediatric

hemorrhage, intracranial, newborn

hemorrhagic diathesis

hepatitis

hepatomegaly

hepatosplenomegaly

heralding manifestation

hereditary multiple exostoses

hydrocephalus, normal pressure

hydrocephalus, normal pressure in children

hypertrophic cardiomyopathy

hypopigmentation of skin

hypothalamus, disturbance of

hypothalamus, lesion of

hypothalamus, neoplasm of

hypothermia

hypothermia, causes of

hypothyroidism

hypotonia

hypotonia, infants

iatrogenic neurologic disorders

imbalance

imperforate anus

impulsivity

inability to stand on tiptoes

inclusion bodies, intranuclear

insulin resistance

intellectual deficit

intellectual deterioration

intestinal biopsy

intestinal pseudoobstruction

intracranial hemorrhage

intracranial hypertension, benign

intracranial hypertension, benign, differential diagnosis

intracranial hypertension, benign, pathogenesis of

intracranial pressure, increased

joint hypermobility

Kearns-Sayre syndrome

keratoconus

Krabbe's disease

kyphoscoliosis, neurologic causes of

lactate

lactic acidemia

laminar necrosis, cortical

Laurence-Moon-Bardet-Biedl syndrome

L-dopa

Leber's hereditary optic neuropathy

leg weakness, bilateral

lipid storage disorder of CNS

malformation, CNS, congenital

megalencephaly

melanomatosis, primary malignant

metabolic disorder, primary

metachromatic leukodystrophy

mitochondrial disease

mitochondrial encephalomyopathy

movement disorder, extrapyramidal

MRI

MRI, abnormal

MRI, CAT scan compared to

MRI, contrast enhanced

MRI, disappearing lesion on

MRS

mucopolysaccharidoses

muscle biopsy

muscle stiffness

muscle weakness

muscle weakness, proximal

myasthenia gravis, differential diagnosis

myasthenia gravis, misdiagnosis of

myopathy, distal, vacuolar

myopathy, inclusion body

myopathy, inclusion body, hereditary

myopathy, mitochondrial

neoplasm, primary of CNS

neoplasm, primary of CNS-children

neoplasm, primary of CNS-incidence of

neoplasm, primary of CNS-treatment of

neuritis

neurocutaneous disease

neuroendocrinology

neurologic complications of, systemic cancer

neurologic disease

neurologic disease, diagnoses of

neurologic examination, focal

neuroophthalmology

neuropathology, brain

neuropathy

neuropathy, peripheral

ophthalmoplegia, progressive external

optic atrophy

optic foramina

optic foramina, abnormal

optic nerve sheath fenestration

optic nerve, decompression of

optic neuropathy

oral ulcerations

osteogenesis imperfecta

Pallister-Hall syndrome

palpebral fissure, short

Parkinson disease, differential diagnosis of

Parkinsonism syndrome

pectus carinatum

pectus excavatum

personality change

philtrum, hypoplastic

photosensitivity, skin

pigmentary retinopathy

pinched face

pituitary

pituitary stalk

pituitary, hyppoplasia

PLEDs

PLEDs, bilateral independent

PLEDs, etiology of

polydactyly

polyhydramnios

posterior pituitary ectopia

postural abnormality

Prader-Labhart-Willi syndrome

precocious puberty

pregnancy, neurologic complications in

prenatal diagnosis by amniocentesis

progeria

prognathism

progressive neurologic disorder

proteinuria

pseudoretinitis pigmentosa

psychiatric disorder

psychiatric problems in neurologic disorders

psychomotor retardation

pupil, abnormality in neurologic disorders

putamen, lesion of

putamen, lesion of, bilateral

quadriparesis

radiation therapy, CNS treatment and complications with

ragged-red fibers

rapidly progressing neurologic illness

rash

renal failure

renal tubular acidosis

Schwartz-Jampel syndrome

sclerae, blue

scoliosis

scoliosis, neurologic association with

seizure

seizure, children

seizure, focal

seizure, injury following

sella turcica, enlargement of

sella turcica, hypoplasia of

sensorineural hearing loss

serologic testing

short neck

short stature

shunt procedure, lumboperitoneal

skin, biopsy

skin, darkening of

skin, lesions in neurologic disorders

skull x-ray, abnormal

skull x-ray, bony defect on

small vessel disease

somatosensory evoked potentials

spasticity

Spielmeyer Vogt syndrome

spinal cord, compression of

spongy degeneration of brain

standing difficulty

stem cell transplantation

subarachnoid hemorrhage

subdural hematoma

subdural hematoma, neonates and infants

temporal lobe, lesion

teratoma

third ventricle, mass of

toe walking

tongue, enlarged

tongue, protrusion of

treatment of neurologic disorder

visual acuity, decreased

visual field defect

visual field testing

visual fields, constricted

visual impairment

visual loss

vomiting, recurrent

walking, difficulty with

weakness

weakness, generalized

x-ray, cervical spine

Showing articles 0 to 50 of 58 Next >>

A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021

A 40-Year-Old Woman Presenting with Distal Leg Weakness
Neurol 92:242-247, Fam, D.,et al, 2019

Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017

Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016

A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016

Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015

Short Stature, Imperforate Anus, and Polydactyly
Neurol 84:e117, Dumitrascu, O.,et al, 2015

Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
Adams & Victors Principles of Neurology, Chp 30, pg 628, Ropper, A.H.,et al, 2014

Growth Hormone Treatment for Childhood Short Stature and Risk of Stroke in Early Adulthood
Neurol 83:780-786, Poidvin, a.,et al, 2014

A Prematurely Aging Patient Presenting with Severe Leukoaraiosis and Stroke
Neurol 78:e113-e114, Seixas,J.C.,et al, 2012

Neuroimaging in Cockayne Syndrome
AJNR 31:1623-1630, Koob,M.,et al, 2010

Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006

A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005

Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005

Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003

Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003

A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002

Craniofacial and Cutaneous Findings Expand the Phenotype of Hereditary Neuralgic Amyotrophy
Neurol 57:1963-1968, Jeannet,P.,et al, 2001

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

Age at Onset of Puberty Following High-Dose Central Nervous System Radiation Therapy
Arch Pediatr Adolesc Med 150:589-592, Obefield,S.E.,et al, 1996

Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995

Evidence of a Congenital Midline Brain Anomaly in Pituitary Dwarfs:A Magnetic Resonance Imaging Study in 101 Patients
Pediatrics 93:409-416, Triulzi,F.,et al, 1994

Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994

Accelerated Aging of the Brain in Werner's Syndrome
Neurol 42:922-924, Kakigi,R.,et al, 1992

Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992

Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992

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

Craniopharyngyoma in Children
In Brain Tumors in Children, W B Saunders Co, Phila, Neurologic Clinics 9:453-46591., Sanford,R.A.&Muhbauer,S., 1991

Physical Features of Prader-Willi Syndrome in Neonates
Am J Dis Child 144:1251-1254, Aughton,D.J.&Cassidy,S.B., 1990

MELAS Syndrome Involving a Mother & Two Children
Arch Neurol 44:971-973, Driscoll,P.F.,et al, 1987

Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986

Natural History of the Fetal Alcohol Syndrome:A 10-Year Follow-Up of Eleven Patients
Lancet 2:85-91, Streissguth,A.P.,et al, 1985

Mitochondrial Myopathies
Ann Neurol 17:521-538, DiMauro,S.,et al, 1985

Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984

Precocious Puberty after Hypothalamic & Pituitary Irradiation in Young Children
NEJM 311:920-921, Brauner,R.,et al, 1984

Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983

Mucopolysaccaridosis IV (Morquio Syndrome) , in The Metabolic Basis of Inherited Disease
(Ed) 5th Ed. , McGraw-Hill, New York, p. 766, Stanbury,J.B., 1983

Child Abuse as a Cause of Post-Traumatic Hypopituitarism
NEJM 302:724-728, Miller,W.L.,et al, 1980

Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
Am J Med 69:64-74, Whythe,M.P.,et al, 1980

Enlarged Cerebral Ventricular System in Infant Achondroplastic Dwarf
Neurol 30:767-769, Mueller,S.M., 1980

Paraparesis in Hereditary Multiple Exostoses:Case Report
Neurol 29:973-977, Ferrari,G.,et al, 1979

Lactic Acidemia, Mitochondrial Myopathy, & Basal Ganglia Calcification
Neurol 29:1057-1061, Markesbery,Wm.R., 1979

Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
Ann Neurol 6:340-348, 1979, Soffer,D.,et al, 1979

Kearns-Sayre Syndrome with Hypoparathyroidism
Ann Neurol 3:513, Horwitz,S.J.,et al, 1978

Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978

Familial Hypopituitarism with Large Sella Turcica
NEJM 298:698, Parks,J.S.,et al, 1978

A Case of Schwartz-Jampel Syndrome with Unusual Muscle Biopsy Findings
Ann Neurol 3:93, Fariello,R.,et al, 1978

Normal Pressure Hydrocephalus, Recog & Relation to Neuro Abnormalities in Cockayne's Sydrome
Arch Neurol 35:337, Brumback,R.A.,et al, 1978

Showing articles 0 to 50 of 58 Next >>