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Topic: Mental retardation epilepsy bulbous nose

	Encyclopedia (Site not responding. Last check: 2007-11-03)
		Mental retardation or intellectual impairment is defined as permanent impairment of intelligence necessitating special care or training; in severe impairment the person is incapable of independent life or of protecting himself from exploitation.
		Mental retardation is usually profound, but may be so mild as to comprise a selective learning disorder, the degree of retardation correlating broadly with the size of the deletion.
		Epilepsy and, less often, the symptoms of raised intracranial pressure are the usual presenting features, and the diagnosis may be suspected from the expanded appearance of the middle fossa in a skull radiograph.
	www.eamg-med.com /members/encyclopedia/24/24_18.shtml (15574 words)

	Kids.Net.Au - Encyclopedia > List of rare diseases starting with M (Site not responding. Last check: 2007-11-03)
		Mental retardation short stature cleft palate unusual facies[?]
		Mental retardation short stature hand contractures genital anomalies[?]
		Mental retardation short stature ocular and articular anomalies[?]
	encyclopedia.kids.net.au /page/li/List_of_rare_diseases_starting_with_M (186 words)

	Parent Support for Children with Challenges - Definitions - L
		A genetic syndrome with mental retardation, growth deficiency, a peculiar facies with a bulbous nose, sparse scalp hair, loose skin, short fingers, and exostoses (tumors' bumps) of the long bones.
		Thus, students with learning disabilities and mental retardation view their failures as being due to their lack of ability despite possessing the skills required to accomplish the task.
		Mental retardation is common, and the syndrome occurs frequently in children who have had previous encephalopathy (brain damage due to lack of oxygen).
	www.childrenwithchallenges.net /definitions/L.html (4764 words)

	Dept of Kinesiology & Health
		Epilepsy is a group of symptoms caused from abnormal electrical activity in the brain which results in seizures of varying magnitude.
		Mental Retardation (MR) is defined by the American Association on Mental Retardation (AAMR) by the following three criteria: intellectual functioning level (IQ) is below 70-75; significant limitations exist in two or more adaptive skill areas; and the condition manifests before the age of 18.
		Zellweger syndrome is a rare, congenital (present at birth) disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain.
	www.uwosh.edu /phys_ed/programs/adaptedpe/disabilities_defined.php (6706 words)

	syndrome
		[MIM209900] mental* retardation, pigmentary retinopathy, polydactyly, obesity, and hypogenitalism; recessive inheritance.
		[MIM278800] xeroderma pigmentosum with mental* deficiency, dwarfism, and gonadal hypoplasia; recessive inheritance.
		The abnormalities include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, and transverse palmar crease.
	www.painhealth.com /word.asp?q=41363 (5183 words)

	ESHG Posters 3
		Mental retardation generally is moderate and the KS individuals have a positive personality.
		A mother and her son are described with neonatal trigonocephaly, multiple suture synostosis; shallow orbits; unusual nose; deviation of the terminal phalanges of fingers 1, 2 and 5; and broad toes which radiologically may show duplication of the terminal phalanx.
		The 3p- syndrome results from deletion of a terminal segment of the short arm of one chromosome 3, and is characterized by mental retardation, growth failure, hypotonia, and multiple congenital anomalies, such as microcephaly, blepharoptosis, hypertelorism, ear anomalies, heart defects and deafness.
	www.medacad.org /eshg/abstracts/posters3.htm (16548 words)

	ESHG Posters 5
		Mental retardation is a distressing disorder affecting approximately 3% of the population.
		He was moderately mentally retarded and had dysmorphic features: short stature, downslanted palpebral fissures, exophthalmus, prognathism, kyphosis, brachydactyly, micropenis etc. Cytogenetic analyses using GTG banding revealed partial deletion 18p in all cells studied.
		In a 8-year-old not mentally retarded boy, referred for cytogenetic examination because of growth retardation, a mos 47,XY,+mar[75]/46,XY[25] karyotype was determined.
	www.medacad.org /eshg/abstracts/posters5.htm (17215 words)

	Glossary - WrongDiagnosis.com
		Nose Lump: A lump in or on the skin occurring on the nose.
		Nose Tingling: Tingling, prickling or pins and needles sensation occurring on or around the nose.
		Nose foreign body: Having a foreign body inserted in a nostril or otherwise in the nose.
	www.wrongdiagnosis.com /symptoms/nose-symptoms/glossary.htm (755 words)

	ORPHANET® : Base de données sur les maladies rares et les médicaments orphelins
		Mental retardation short stature heart and skeletal defects
		Mental retardation - short stature - microcephaly - eye anomalies
		Mental retardation short stature wedge shaped epiphyses of knees
	www.orpha.net /Pat/GBM.html (222 words)

	No. 02-1667: Tennessee v. Lane - Appendix (Merits)
		Louisiana, 504 U.S. 71 (1992) (Louisiana statute allowing continued confinement of the mentally ill, who were acquitted of crimes by reason of insanity, resulted in unconstitutional confinement, in violation of the Due Process Clause, where the hospital review committee had reported no evidence of mental illness and recommended conditional discharge); City of Cleburne v.
		Mentally ill inmates, and mentally ill persons detained pending civil commitment proceedings, housed in five-by-six foot steel cage, sometimes for months (p.
		When mentally ill youth are receiving psychotropic medications at the time of entry into the facility, those "medications are automatically and permanently discontinued upon the youths' arrival" without individualized review by a medical professional (p.
	www.usdoj.gov /osg/briefs/2003/3mer/2mer/2002-1667.mer.aa.app.html (12791 words)

	Links
		The syndrome is marked mainly by mental retardation, midface hypoplasia, deeply set eyes, carp mouth, mild obesity, ataxia, hypotonia, malformed ears, and hyperactive and aggressive behavior.
		Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de Lange syndrome, whereas craniosynostosis, cleft palate, and urinary tract anomalies are more common in dup(3q).
		A non-profit organization concerned with a broad array of international issues relating to children and adults with mental retardation and developmental disabilities, their families, and the professionals who work with them.
	www.clsf.info /Links.htm (721 words)

	eMedicine - Mental Retardation : Article by Karen H Harum, MD (Site not responding. Last check: 2007-11-03)
		In particular, respiratory infections were the leading cause of death among a Finnish cohort of mentally retarded children.
		Chromosomal analysis is undergoing further refinement with the application of gene array hybridization techniques that may detect abnormalities in up to 20% of cases of idiopathic mental retardation.
		Flint J, Wilkie AO, Buckle VJ: The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.
	www.emedicine.com /neuro/topic605.htm (6493 words)

	PMID: 15366814 (Site not responding. Last check: 2007-11-03)
		Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis.
		A 1-year-old boy, presenting with hypotonia, blepharophimosis, ptosis, a bulbous nose, mild psychomotor retardation, and epilepsy, was found to have mosaicism of chromosome ring 14 and monosomy 14.
		He has marked growth retardation but less serious delays in mental and motor development than those with ring 14 described in the literature.
	lethargy.swmed.edu /cgi-bin/etblast/abstract_local?pmid=15366814&... (132 words)

	Medscape MEDLINE search: Facies
		Cortical dysplasia, temporal atrophy, mental retardation, dysmorphic facies, and partial epilepsy: an EEG and dynamic susceptibility contrast (DSC) MRI study in a new possible genetic syndrome.
		Costello syndrome is a disorder that primarily involves ectodermal tissues and is characterized by mental and growth retardation, distinctive coarse facies, redundant skin (neck, palms and soles), and papillomata (perioral, nasal and anal).
		Cardio-facio-cutaneous syndrome is a genetic disorder with a characteristic facies, abnormal skin and hair, mental retardation and congenital heart disease.
	search.medscape.com /uslclient/searchMedline.do?queryText=Facies (1039 words)

	Telomeres: a diagnosis at the end of the chromosomes -- De Vries et al. 40 (6): 385 -- Journal of Medical Genetics
		The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.
		Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes.
		An unbalanced half-cryptic translocation involving the 6q subtelomeric region and 2q25.3 in a child with mental retardation: uses and limitations of fluorescence in situ hybridization.
	jmg.bmjjournals.com /cgi/content/full/40/6/385 (8219 words)

	4p- Medical Articles by Year
		The importance of chromosome evaluation of older individuals with mental retardation syndromes is emphasized.
		AB A major challenge for human genetics is to identify new causes of mental retardation, which, although present in about 3% of individuals, is unexplained in more than half of all cases.
		At least 6% of unexplained mental retardation is accounted for by these relatively small chromosomal abnormalities, which will be an important resource in the characterization of the genetic basis of neurodevelopment.
	www.4p-supportgroup.org /medical/4p_1995.asp (2770 words)

	XLMR Update
		New X-linked mental retardation syndromes, new gene localizations, revised gene localizations, and gene identifications are presented in abbreviated form with appropriate references.
		An X-linked mental retardation syndrome with infantile onset epilepsy (not infantile spasms) has been mapped to Xp21.1-p11.4 maximum lod score 3.83 for several markers (Hedera et al., Ann Neurol 51:45, 2002).
		Two brothers with hydrocephalus, cerebellar vermis hypoplasia, agenesis of the corpus callosum, retinal colobomas, hypertelorism, small nose, micrognathia, severe developmental delay, hypotonia, seizures, absent reflexes, irregular respiratory pattern and death before age 4 years were reported by Kroes et al.
	www.ggc.org /xlmr.htm (4481 words)

	A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome) ...
		A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome) -- Brooks et al.
		A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)
		Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited.
	jmg.bmjjournals.com /cgi/content/full/36/6/485 (2324 words)

	TheFetus.net - Multicystic dysplastic kidney disease -Elke Sleurs, MD*, Gloria Valero, MD
		Congenital hypernephric nephromegaly with tubular dysgenesis4: inherited renal disorder characterized by oligohydramnios, the Potter phenotype, and enlarged non-functional kidneys.
		The kidneys are characterized by variably sized cysts resembling those seen in later life of adult polycystic kidney disease[13].
		Alagille syndrome: autosominal dominant disorder characterized by neonatal jaundice; characteristic facies (broad forehead, pointed mandible, bulbous tip of the nose); posterior embryotoxon and retinal pigmentary changes; “butterfly” vertebrae; peripheral arterial stenosis and pulmonic valvular stenosis.
	www.thefetus.net /page.php?id=553 (1505 words)

	Genetics advances and learning disability -- MUIR 176 (1): 12 -- The British Journal of Psychiatry
		bulbous nose, cleft palate, neonatal parathyroid and thymus
		Flint, J., Wilkie, A. M., Buckle, V.J., et al (1995) The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.
		Nuffield Council on Bioethics (1998) Mental Disorders and Genetics: The Ethical Context.
	bjp.rcpsych.org /cgi/content/full/176/1/12 (5245 words)

	[No title]
		Therefore, the diagnosis should be suspected at this age in case of minor signs such as unexplained fever, collodion-like membranes, prominent forehead, periorbital darkening and saddle nose in a male infant.
		Humans with CCD show all these features, including severely retarded ossification of the cranial base, strongly suggesting that both intramembranous ossification and endochondral ossification are affected.
		AB - Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction.
	www.lib.umich.edu /dentlib/nihcdc/searches/shuler/shuler1DSdEM-1.txt (18057 words)

	Disabilities
		Children with this syndrome have distinctive facial features because of their bushy eyebrows, bulbous nose, broad nasal bridge, and prominent philtrum (that crease that runs under your nose to your lip).
		Mental retardation, delayed speech development and hearing loss are common.
		They also have multiple exostoses, (bumps of bone that grow off the skeleton) and a host of things that are too difficult for me to understand, let alone explain.
	www.dickibus.co.uk /teamwork/teamwork.htm (2906 words)

	[No title]
		The patients have a triangular face, broad nasal bridge, bulbous nose tip, small palpebral fissures, short neck, long upper lip, and low hairline.
		Somatic and psychomotor retardation and recurrent bone fractures were common in both groups.
		[Am J Med Genet 47:660-678] described a new AFD with mental retardation in a Sicilian mother and her four sons characterized by intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, MFD without cleft palate, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, and cryptorchidism and hypospadias in males.
	www.lib.umich.edu /dentlib/nihcdc/searches/shuler/shuler1DSd-1.txt (18851 words)

	Intrinsic aetiology
		It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on paternal 15q11-13 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting.
		Miscarriages are frequent and most surviving offspring are severely mentally retarded, often with microcephaly, low birth weight, and congenital anomalies.
		Thomson's disease : an autosomal recessive skin disorder similar to Rothmund-Thomson syndrome except that saddle nose and cataract are not manifestations.
	focosi.immunesig.org /intrinsicaetiology.htm (10212 words)

	SMCs derived from the X (Site not responding. Last check: 2007-11-03)
		at birth agenesis of right eye, microphtalmia of left eye, microcephaly, scaphocephaly; bulbous nose, short neck, congenital heart defect; agenesis of corpus callosum, 11 ribs; profound developmental delay, died at 3d due to heart defect;
		toes; At 7y moderate mental retardation, seizures, dysmorphic features, high arched palate, poorly implanted decayed teeth, obese, bulbous nose, bifid tip, epicanthus, early hypotoni, later ataxia and hemiparesis, PDA at birth but normal at 11y;
		During these episodes she was noted to stare vacantly into space for up to a minute.
	mti-n.mti.uni-jena.de /~huwww/MOL_ZYTO/sSMC/13.htm (760 words)

	Prescription Drug Information » List of rare diseases starting with M (Dilacoran or Retard) (Site not responding. Last check: 2007-11-03)
		Prescription Drug Information » List of rare diseases starting with M (Dilacoran or Retard)
		List of rare diseases starting with M (Dilacoran or Retard)
		(Dilacoran or Retard) … the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp.
	namatx.com /935/list-of-rare-diseases-starting-with-m-dilacoran-or-r... (72 words)

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