Differential (Click to cross reference) acral enlargement acromegaly acromicria adrenoleukodystrophy adverse drug reaction aggression alcohol alcohol, neurologic complications with alveolar hypoventilation amniocentesis Andersen syndrome anesthesia, general Angelman syndrome angiography, cerebral angiokeratoma anosmia anticonvulsants anticonvulsants, teratogenicity of anticonvulsants, untoward effects of areflexia arm weakness arrhythmia, cardiac arteriopathy arthropathy arylsulfatase B aspiration ataxia ataxia, cerebellar ataxia, hereditary ataxic gait atrial enlargement attention deficit disorder with hyperactivity attention span atypical autism autonomic dysfunction Babinski sign baldness basal ganglia, calcification of basilar impression behavior, combative behavioral disorder blinking blinking, reduced bone age bone density bone density, increased bone marrow transplantation brachial neuritis brachial neuritis, acute brachial neuritis, bilateral brachial plexus neuropathy brachial plexus neuropathy, bilateral brachial plexus neuropathy, familial brachial plexus neuropathy, recurrent brachycephaly bradykinesia bradykinesia, facial brain atrophy brain weight brainstem, lesion of breech delivery cachexia CAG repeats calcification, intracranial carcinoma cardiomyopathy caries carpal tunnel syndrome CAT scan CAT scan, abnormal cataracts cerebellar atrophy, primary cerebellar atrophy, secondary cerebellar degeneration cerebellar vermis cerebral arteries cerebral cortical atrophy cerebral embolism cerebral infarction cerebral vasculature cerebro hepato renal syndrome cerebrovascular accident cerebrovascular accident, infancy and childhood cerebrovascular accident, young adult chewing, impaired children chondrodysplasia punctata chromosomal abnormality chromosome 15 chromosome 17 chromosome 19 chromosome 9 chronic graft versus host disease cisterna magna, enlarged cleft palate Clinical Pathologic Conference(C.P.C.) clinodactyly clubfoot as related to neurologic disease Cockayne's syndrome codfish vertebrae Coffin-Siris syndrome cold temperature collagen vascular disease comorbidities complications congenital birth defects congenital heart disease congenital heart disease, CNS complications with congenital malformation congenital malformation, dilantin therapy causing congenital malformation, non CNS congenital myopathy consanguinity contractures, joint cornea, abnormal cornea, opacification in infancy-causes of cornea, opacity of Cornelia de Lange syndrome corpus callosum corpus callosum, atrophy of corpus callosum, hypoplastic corpus callosum, lesion of cost effectiveness cranial neuropathy, multiple creatine phosphokinase(CPK)elevated cry, abnormal cry, weak cryptorchidism cultured skin fibroblasts cyanosis cystinuria Dandy Walker malformation deafness deep tendon reflexes delay in diagnosis dental diastema dental malocclusion depression dermatoglyphics developmental disability developmental retardation diabetes mellitus differential diagnosis digits, abnormal dilantin dilantin, toxicity diplopia dislocated hip, congenital dissociated sensory loss distal muscle weakness DNA probes doppler, transcranial drooling dropped head syndrome dwarfism dysarthria dysmorphic dysostosis multiplex dysphagia dyspnea dyspraxia dystonia, face ear, abnormal ears, low set eating disorder echocardiogram echocardiogram, LVH echocardiogram, transesophageal ejection fraction ejection fraction, abnormal electrocardiogram, abnormal electroencephalogram electroencephalogram, abnormalities of electromyogram electron microscopy enzyme treatment enzyme, defect epicanthal folds epoxide hydrolase exercise exome sequencing eye closure eyebrows, abnormal eyes, sunken face, elongated facial anomalies facial appearance, abnormal facial expression abnormality facial hypoplasia facial nerve palsy facial weakness facial weakness, bilateral failure to thrive familial fatigable chewing fatigue fatty acid, elevated plasma content feeding disorder fetal alcohol syndrome fetal valproate syndrome fetus fingernails, abnormal fingernails, hypoplastic fish fluorescene in situ hybridization Fragile-X associated tremor/ataxia-syndrome fragile-X syndrome fragile-X syndrome, carrier frataxin Friedreich's ataxia frontal balding frontal bossing fucosidosis gait disorder galactorrhea gangliosidosis GM1 gangliosidosis GM2 gene gene mutation genetic counselling genetic diagnosis genetic diagnosis, prenatal genetic linkage genetic neurologic disorders genetic screening genetic testing genital hypoplasia glycoprotein growth hormone growth hormone antagonist growth hormone deficiency growth retardation hairline, abnormal hand flapping hands, large head circumference headache headache, recurrent hearing loss heart block heart murmur hemorrhage, intracranial, newborn hemorrhage, periventricular hemorrhagic diathesis hepatomegaly hepatosplenomegaly heralding manifestation heterotopia high arched palate hirsutism histochemistry of muscle homocystinuria Hunter's syndrome Hurler's syndrome hydrocephalus hyperactivity hypercapnia hyperhidrosis hyperhomocysteinemia hyperphagia hyperpigmentation of skin hyperreflexia hypertelorism hypertension hypertonia hypertrichosis hypertrophic cardiomyopathy hypertrophy, ventricular hypogonadism hypokinesia hypomyelination hypophonia hypopigmentation of skin hypoplastic left heart syndrome hypotelorism hypothyroidism hypothyroidism, congenital hypotonia hypotonia, infants imbalance inclusion bodies inclusion bodies, intracytopasmic infant, evaluation of infection, recurrent infertility insulin like growth factor 1 insulin resistance intellectual deficit intelligence quotient intracranial hemorrhage intracranial pressure, increased intrauterine iodine deficiency joint hypermobility karyotyping Krabbe's disease kyphoscoliosis, neurologic causes of kyphosis laughing, pathologic learning disability learning disability, in children leg weakness, bilateral leiomyoma, uterine lens, dislocation of lens, ectopic leukodystrophy libido, decreased lid lid abnormalities lid closure, weakness of life expectancy lip, abnormal lip, thickening lipid storage disorder of CNS lissencephaly livedo reticularis low birth weight lysosomal storage disease lysosomes, abnoral macrocephaly macrognathia malformation, CNS, congenital masked facies melanomatosis, primary malignant mental retardation mental retardation, familial metabolic disorder, primary metachromatic leukodystrophy micrencephaly microcephaly microdontia micrognathia micromelia micropolygyria microspherophakia microsurgery microsurgery, transsphenoidal middle cerebellar peduncle middle cerebellar peduncle, lesion middle cerebellar peduncle, lesion, bilateral misdiagnosis molecular genetics molybdenum cofactor deficiency mortality movement disorder MRI MRI, abnormal MRI, angiography MRI, fetal mucopolysaccharidoses mucopolysacchariduria multicore myopathy multiple system atrophy muscle atrophy, focal muscle atrophy, progressive muscle biopsy muscle diseases, characteristics of muscle wasting, diffuse muscle weakness muscle weakness, proximal muscular dystrophy muscular dystrophy, cardiovascular changes with mutism myasthenia gravis myasthenic sneer myelopathy myopathy myopia myotonia myotonia dystrophica myotonia dystrophica, classification myxedema, neurologic manifestations of nasal bridge, wide nasal regurgitation nasal speech neck weakness neck, webbed neoplasm, metastatic to CNS neoplasm, pituitary nerve growth factor neuroendocrinology neuroichthyosis neurologic disease, diagnoses of neurologic evaluation neurologic signs neurologic symptoms neuroophthalmology neuropathology neuropathology, brain neuropathy neuropathy, hereditary peripheral newborn, evaluation of Niemann-Pick disease Noonan Syndrome nose, abnormal nose, enlargement obesity oculodentodigital dysplasia oligodactyly ophthalmoplegia ophthalmoplegia, progressive external ophthalmoplegia, total optic atrophy optic nerve optic nerve, hypoplasia of optic neuropathy oropharyngeal weakness osteogenesis imperfecta osteoporosis otosclerosis ovarian insufficiency pachygyria pain pain, severe palpebral fissure, short papilledema paraparesis paraparesis, spastic Parkinson disease Parkinson disease, atypical pathology pectus carinatum pectus excavatum percussion induced muscle contraction periodic paralysis periventricular leukomalacia peroxisomal disease peroxisomes pes cavus philtrum, hypoplastic philtrum, tented phocomelia photosensitivity, skin pigmentary retinopathy pituitary, adenoma pituitary, enlargement pituitary, microadenoma polycystic kidneys polycystic ovarian syndrome polyhydramnios polyps, gastrointestinal tract postural abnormality Potter syndrome Prader-Labhart-Willi syndrome precipitating factors pregnancy, neurologic complications in premature infant prenatal prenatal diagnosis by amniocentesis prevention of neurologic disorders progeria prognathism prognosis progressive supranuclear palsy prolactin, elevated proximal muscle atrophy psychiatric problems in neurologic disorders psychological testing psychological testing, children psychomotor retardation psychosis psychosocial aspects ptosis ptosis, bilateral puberty, delayed puerperium pulmonary stenosis pupil, abnormality in neurologic disorders pupil, ectopic-congenital quadriparesis quadriplegia quality of life radiation therapy, CNS treatment and complications with rash recurrent Refsum's disease ReNU syndrome respiratory failure retinal degeneration retinopathy review article RFLPs rhizomelia risk factors root lesion, nerve saddle nose sclerae, blue sclerosteosis scoliosis scoliosis, neurologic association with screaming seizure seizure, children seizure, familial seizure, injury following seizure, intractable seizure, neonatal sella turcica, enlargement of sensorineural hearing loss short neck short stature simian crease skin, biopsy skin, lesions in neurologic disorders skin, thickened skull x-ray, abnormal skull x-ray, bony defect on sleep apnea slit lamp examination smiling sodium valproate sodium valproate, toxicity Southern immunoblot test speech disorder speech disorder, childhood speech, absence of speech, delayed development of spinal cord, compression of splenium of corpus callosum splenomegaly stem cell transplantation stimulant drugs stooped posture strabismus suck, poor sudden death symmetric brain lesions syndactyly synophrys syringobulbia syringomyelia systemic illness tantrum teeth, abnormal teeth, wide-spaced temper tantrums temporalis muscle wasting temporalis muscle weakness temporomandibular joint, dislocation teratogenesis teratogenic drugs term infant testicular enlargement titinopathy tongue, enlarged tongue, protrusion of transverse smile treatment of neurologic disorder tremor tremulousness trichopoliodystrophy trigeminal nerve, lesion of trigeminal neuropathy trinucleotide repeats trisomes trisomy 9p undiagnosed uric acid, low urinary incontinence valvulopathy vertebral fracture visual field defect visual impairment visual loss voice, abnormality of vomiting, recurrent weakness weakness, congenital weakness, fatiguable weakness, generalized weakness, progressive weakness, proximal wheelchair white matter disease whole genome sequencing wide based gait Williams syndrome winging of scapula workup x-linked intellectual deficit x-linked mental retardation

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