Differential (Click to cross reference) 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 arylsulfatase B aspiration ataxia ataxia, cerebellar ataxia, hereditary ataxic gait 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 calcification, intracranial 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 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 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 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 depression dermatoglyphics 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 eating disorder echocardiogram electrocardiogram, abnormal electroencephalogram electroencephalogram, abnormalities of electromyogram electron microscopy enzyme treatment enzyme, defect epicanthal folds epoxide hydrolase exercise 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 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 deficiency growth retardation hairline, abnormal hand flapping head circumference headache 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 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 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, in children leg weakness, bilateral lens, dislocation of lens, ectopic leukodystrophy libido, decreased lid closure, weakness of life expectancy lip, abnormal 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 middle cerebellar peduncle 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 neuroendocrinology neuroichthyosis neurologic disease, diagnoses of neurologic evaluation neurologic signs neurologic symptoms neuropathology neuropathology, brain neuropathy neuropathy, hereditary peripheral newborn, evaluation of Niemann-Pick disease Noonan Syndrome nose, abnormal 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 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 phocomelia photosensitivity, skin pigmentary retinopathy pituitary, adenoma polycystic kidneys polyhydramnios 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 puerperium pulmonary stenosis pupil, abnormality in neurologic disorders pupil, ectopic-congenital quadriparesis quadriplegia rash recurrent Refsum's disease 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 sensorineural hearing loss short neck short stature simian crease skin, biopsy skin, lesions in neurologic disorders skull x-ray, abnormal skull x-ray, bony defect on slit lamp examination smiling sodium valproate sodium valproate, toxicity Southern immunoblot test speech disorder speech disorder, childhood speech, delayed development of spinal cord, compression of splenomegaly stem cell transplantation stimulant drugs stooped posture strabismus suck, poor sudden death symmetric brain lesions syndactyly synophrys syringobulbia syringomyelia 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 tremulousness trichopoliodystrophy trigeminal nerve, lesion of trigeminal neuropathy trinucleotide repeats trisomes trisomy 9p undiagnosed uric acid, low urinary incontinence valvulopathy visual impairment visual loss voice, abnormality of vomiting, recurrent weakness weakness, congenital weakness, fatiguable weakness, generalized weakness, progressive weakness, proximal wheelchair white matter disease wide based gait Williams syndrome winging of scapula x-linked mental retardation

Showing articles 50 to 56 of 56 << Previous Fragile X Chromosome & X-Linked Mental Retardation CMA Journal 127:123-126, Larbrisseau,A.,et al, 1982 Brain Abnormalities in Infants with Fotter Syndrome (oligohydramnios tetrad) Neurol 31:1571-1574, Grunnet,M.L.,et al, 1981 Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature Ann Neurol 6:340-348, 1979, Soffer,D.,et al, 1979 Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger Ann Neurol 2:473, deLeon,G.A.,et al, 1977 Familiar Basilar Impression Neurol 22:554, Paradis,R.,et al, 1972 Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue (Ed) , 4th edition, The C. V. Mosby Company St. Louis, Chap. 8, pp. 390. , 1972, McKusick,V.A., 1972 The Cornelia de Lange Syndrome J Pediatr 63:1000-1020, Ptacek,L.J., 1963 Showing articles 50 to 56 of 56 << Previous