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Topic: Epilepsy microcephaly skeletal dysplasia

	Howstuffworks "Epilepsy: A Profile of a Seizure Disorder"
		Epilepsy is a disorder characterized by sudden surges of disorganized electrical impulses in the brain, which lead to seizures.
		Epilepsy is usually divided into two categories: idiopathic (of unknown cause) and acquired (caused by some known factor, such as a brain tumor or an injury).
		Epilepsy is diagnosed by observing the symptoms and by obtaining an electroencephalogram (EEG), which is a visual record of the electrical activity of the brain.
	health.howstuffworks.com /define-epilepsy.htm (1271 words)

	Epilepsy - microcephaly - skeletal dysplasia - WrongDiagnosis.com
		Epilepsy - microcephaly - skeletal dysplasia: A rare syndrome characterized by epilepsy, a small head and skeletal abnormalities.
		Symptoms of Epilepsy - microcephaly - skeletal dysplasia
		Prevalence and Incidence of Epilepsy - microcephaly - skeletal dysplasia
	www.wrongdiagnosis.com /e/epilepsy_microcephaly_skeletal_dysplasia/intro.htm (409 words)

	Epilepsy - WrongDiagnosis.com
		Epilepsy: Paroxysmal transient disturbances of brain function that may manifest as loss of consciousness, abnormal motor phenomena.
		Epilepsy is a brain disorder in which clusters of nerve cells, or neurons, in the brain sometimes signal abnormally.
		In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness.
	www.wrongdiagnosis.com /sym/epilepsy.htm (1153 words)

	Glossary for Alopecia - WrongDiagnosis.com
		Alopecia, epilepsy, oligophrenia syndrome of Moynahan: A rare condition characterized by alopecia, epilepsy, mental retardation and a small head.
		Mandibuloacral dysplasia with type A lipodystrophy: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities.
		Trichoscyphodysplasia: A rare inherited skeletal disorder involving abnormal bone development which results in short stature, short hands and feet and alopecia is also present.
	www.wrongdiagnosis.com /a/alopecia/glossary.htm (1477 words)

	[No title]
		HTT2 is an autosomal dominant multisystemic vascular dysplasia, characterized by recurrent epistaxis, muco-cutaneous telangiectases, gastro-intestinal hemorrhage, and pulmonary, cerebral and hepatic arteriovenous malformations; all secondary manifestations of the underlying vascular dysplasia.
		AMDM is an autosomal recessive skeletal dysplasia, characterized by disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of the appendicular skeleton.
		Patients affected with XLAG have severe congenital or postnatal microcephaly, lissencephaly, agenesis of the corpus callosum, neonatal-onset intractable epilepsy, poor temperature regulation, chronic diarrhea, and ambiguous or underdeveloped genitalia.
	pevsnerlab.kennedykrieger.org /flatfiles/swissprot-output-10.txt (20299 words)

	[No title] (Site not responding. Last check: )
		Microcephaly and intracranial calcification with repeated normal TORCH constitute the recognized diagnostic criteria of congenital intrauterine infection-like syndrome (Mckusick 251290) and Aicardi-Goutières syndrome (Mckusick 225750).
		The skeletal dysplasia and the associated clinical findings show significant intra- and interfamilial variability and the syndrome has been suggested to be an allelic variant of the Melnick Needles osteodysplasty, an X-linked (or autosomal) dominant entity.
		Spondylothoracic dysplasia (Jarcho-Levin syndrome) and Spondylocostal dysostosis, the confusing vertebral malsegmentation syndromes.
	mail.medacad.org /www.ichg2001.org/abstracts/clinical.htm (9164 words)

	www.whonamedit.com
		A syndrome characterised by craniosynostosis, arthrogryposis, and cleft palate associated with microcephaly, prominent occiput, hypertelorism, antimongoloid palpebral fissures, ophthalmoplegia, abnormal ear placement, and bifid uvula.
		Christian-Andrews-Conneally-Muller syndrome (Christian's syndrome I) A syndrome characterised by craniosynostosis, arthrogryposis, and cleft palate associated with microcephaly, prominent occiput, hypertelorism, antimongoloid palpebral fissures, ophthalmoplegia, abnormal ear placement, and bifid uvula.
		Malformation- and dysmorphy syndrome with the triad of dwarfism, mental retardation and skeletal anomalies.
	www.whonamedit.com /syndlist.cfm/21 (4092 words)

	[No title]
		Lissencephaly with frontal pachygiria and posterior agyria, intermediate increase in cortical thickness, agenesis of corpus callosum, neonatal intractable epilepsy and severe hypotonia, hypothalamic dysfunction with frequent hypothermia, ambiguous genitalia
		Microphthalmia, thumb and skeletal anomalies, urogenital and cardiovascular anomalies
		Microcephaly, agenesis of corpus callosum, arthrogryposis, renal dysplasia, hypospadias
	xlmr.interfree.it /1_Syn.htm (676 words)

	Partly Mapped Human Disease Genes
		Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities.
		A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma.
		3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures.
	www.mad-cow.org /00/human_inherited.html (5596 words)

	Homo sapiens diseases - Nervous system, skeletal muscles, smooth muscles, and sense organs
		malformations of the cerebral cortex (MCC) / cortical dysplasia are often associated with severe epilepsy and developmental delay.
		X-linked BPNH presents with epilepsy in females and prenatal lethality in most males.
		Patients present with faciopharingo-glosso-masticatory diplegia and epilepsy, which is severe in about 65% of patients.
	focosi.immunesig.org /pathohomotissuecns.html (7026 words)

	[No title]
		AB - Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal dysplasia caused by mutations in the osteoblast-specific transcription factor CBFA1.
		AB - Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant disorder characterized by distinctive craniofacies, cleft lip or palate, oligodontia or anodontia, hypoplasia of the nails, and a decrease in or absence of the sweat glands and hair follicles.
		Although conservative management of fibrous dysplasia affecting the jaws is widely practiced, orthognathic surgery is indicated in such cases to restore occlusion and correct dentofacial deformity brought on by the disease process.
	www.lib.umich.edu /dentlib/nihcdc/searches/shuler/shuler1DSdEM-1.txt (18057 words)

	Birth Disorder Information Directory - CA-CL
		Camera Stella Syndrome (Leonard Hughes Syndrome, Spondyloendochromatosis, Spondyloepimetaphyseal Dysplasia)
		Christian Demyer Franken Syndrome (Mental Retardation Skeletal Dysplasia Abducens Palsy)
		MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY; MRSD
	www.bdid.com /defectca.htm (705 words)

	FSP Syndromes
		MRI: Atrophy of cerebral hemispheres, corpus callosum, brainstem
		Spastic paraplegia, Optic atrophy, Microcephaly and XY sex reversal
		Infantile optic atrophy with chorea and spastic paraplegia
	www.neuro.wustl.edu /neuromuscular/spinal/fsp.html (1840 words)

	UK Dysmorphology Meeting
		Low birth weight, microcephaly, full cheeks and troublesome eczema are the main hallmarks and it was pointed out that a useful feature to look for here is that the profile of the nose has a “ski-jump” shape.
		It was pointed out that the skeletal features of the condition which include narrow interpedicular distance, long clavicles and a small and narrow pelvis are not always apparent at a very young age and X-rays carried out over the age of three years are more informative.
		On the skeletal front, a child who had originally been suggested to have achondroplasia re-presented at 13 years with short limbs, learning difficulties and optic atrophy.
	www.clingensoc.org /Dysmo (8711 words)

	callosal agenesis09
		In this report, we describe an 8-year-old girl with mental retardation, postnatal growth deficiency, generalized muscular hypotonia, seizures, microcephaly, cortical atrophy, partial agenesis of corpus callosum, cerebral ventriculomegaly, facial anomalies, patent ductus arteriosus, pectus excavatum, long fingers, and bilateral talipes equinovarus caused by the presence of a 46,XX,der(17)t(5;17)(p13.1;p13.3)mat chromosome complement.
		This study was a retrospective analysis of case notes of patients with pituitary dysfunction associated with either a midline cerebral anomaly and/or optic nerve hypoplasia.
		Forty patients were studied: 2 with semilobar holoprosencephaly, 2 with lobar holoprosencephaly, 18 with septo-optic dysplasia with an intact septum pellucidum, 7 with septo-optic dysplasia with an absent septum pellucidum, 7 with agenesis of the corpus callosum and 4 patients with isolated pituitary hypoplasia.
	www.indiana.edu /~pietsch/agenesis09.html (4247 words)

	eMedicine - Teratology and Drug Use During Pregnancy : Article by Noah S Scheinfeld, MD, JD, FAAD
		The infants of mothers with epilepsy who were not treated with anticonvulsant drugs were at no greater risk of birth defects then infants of mothers without epilepsy.
		Facial problems include microcephaly, brachycephaly, midfacial hypoplasia, wide fontanels, metopic ridging, mild micrognathia, low-set deformed ears, blepharoptosis, mild hypertelorism, strabismus, short nose with a broad depressed bridge and epicanthal folds, cupid's bow of the upper lip, and, occasionally, cleft lip and palate.
		An increased prevalence of fetal external, soft tissue, and skeletal anomalies (ie, meningocele, short snout, short maxillary bones) occurred in rabbits at the high dose (1 mg/kg/d), which was also maternally toxic.
	www.emedicine.com /med/topic3242.htm (10439 words)

	DOCTORED.BIZ :: List of Diseases - S (Site not responding. Last check: )
		Situs inversus totalis with cystic dysplasia of kidneys and pancreas
		Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
		Syndactyly ectodermal dysplasia cleft lip palate hand foot
	doctored.biz /diseases-s.html (85 words)

	TheFetus.net - Chromosome 14 ring-Heredia, Johns, Bircher, Jeanty, Dev
		The fetal biometry parameters show a 3-week discordance between abdomen and skeletal measurements.
		Counter CM, Avilion AA, LeFeuvre CE, Stewart NG, Greider CW, Harley CB, Bacchetti S (1992) Telomere shortening associated with chromosome instability is arrested in immortal cells which express telomerase activity.
		Epilepsy in ring chromosome 14 syndrome Arq Neuropsiquiatr 1989 Jun;47(2):205-11.
	www.thefetus.net /page.php?id=1040 (1023 words)

	Mowat-Wilson syndrome -- Mowat et al. 40 (5): 305 -- Journal of Medical Genetics
		Microcephaly is a common but not invariable feature, present
		Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22–q23.
		Hirschsprung’s disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.
	jmg.bmjjournals.com /cgi/content/full/40/5/305 (2984 words)

	Genetic Hearing Loss (Apr.2000)
		The material does not necessarily reflect the current or past opinions of members of the UTMB faculty and should not be used for purposes of diagnosis or treatment without consulting appropriate literature sources and informed professional opinion."
		Scheibe Aplasia (Cochlearsaccular dysplasia or pars inferior dysplasia)
		In Alexander aplasia, cochlear duct differentiation at the level of the basal coil is limited with resultant effects on the organ of Corti and the ganglion cells. Audiometrically these patients have a high frequency hearing loss with adequate residual hearing in the low frequencies to warrant the use of amplification.
	www.utmb.edu /otoref/Grnds/Genetic-HL-0004/Genetic-HL-0004.htm (1045 words)

	Orthopaedics Syndromes Second Page
		CAO (1977) - AGENESIS OF CORPUS CALLOSUM; MICROCEPHALY
		DONNAI-BARROW - DIAPHRAGMATIC HERNIA; EXOMPHALOS; ABSENT CORPUS CALLOSUM
		EKBOM (1975) - ATAXIA; PHOTOMYOCLONUS; SKELETAL ANOMALIES; LIPOMA
	freeortho.com /syndromes2.html (1167 words)

	MGI_3.54: Human Disease Vocabulary Browser
		Actin, Alpha, Skeletal Muscle 1; ACTA1 (1 mouse model)
		Agonadism, Xy, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
		Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
	www.informatics.jax.org /javawi2/servlet/WIFetch?page=omimVocab&subset=A (523 words)

	TheFetus.net - Supratentorial arachnoid cyst -Tae-Hee Kwon, MD*, Philippe Jeanty, MD, PhD
		Insufficient data are available regarding the prognosis of cases diagnosed either antenatally or in the newborn period.
		In many cases, arachnoid cysts are asymptomatic, but they may cause epilepsy, mild motor or sensory abnormalities, or hydrocephalus
		Depending on the location and extent of the lesion, these cysts can be resected
	www.thefetus.net /page.php?id=138 (1999 words)

	Molecular and Comparative Genetics of Mental Retardation -- Inlow and Restifo 166 (2): 835 -- Genetics
		, progressive epilepsy with mental retardation, one of
		with prominent skeletal and connective tissue involvement (
		syndrome, which includes highly penetrant skeletal and genital
	www.genetics.org /cgi/content/full/166/2/835 (6578 words)

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