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Topic: Warkany syndrome 2

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Warkany syndrome

Trisomy

Abnormality

XYY

Anomaly

	Ψ 10 years HANDANALYSIS RESEARCH: mini-course handanalysis (7/33) (Site not responding. Last check: 2007-10-12)
		The genetic material of 'trisomy syndromes' is characterized by an extra chromosome on one of the 23 pairs of chromosomes.
		In Down's syndrome (trisomie 21) this extra chromosome is always observed on the 21th chromosome pair: see figure A-8 on the last page.
		In Down's syndrome this percentage is usually a bit higher, and the highest percentage is observed in Edward's syndrome: see table B-1.
	www.handresearch.com /course/diseases-syndromes-1.htm (242 words)

	NDI Article: 289 (Site not responding. Last check: 2007-10-12)
		Before discussing the characteristics of the syndrome, a presentation of our studies is given, chiefly in the order that they were conducted.
		In three patients with diabetes insipidus of the "pituitary type," studied by Dr. John Talbott at the Massachusetts General Hospital, the sodium and potassium clearances were found to be normal.
		That there are variations in the characteristics of the syndrome is indicated by the many classifications that have been given.
	www.ndif.org /Article/jar-289.html (4977 words)

	Ψ 10 years HANDANALYSIS RESEARCH: mini-course handanalysis (9/33)
		For in these syndromes the axial triradius is usually positioned a bit lower compared to Patau's syndrome (trisomy 13) and Edward's syndrome (trisomy 18): see figure B-1.
		Edward's syndrome is usually featured with arch patterns on all 10 fingers (possibly combined with a radial loop on the thumb): see figure B-3a.
		Patau's syndrome is featured by a large number of arch patterns combined with radial loops on the ringfinger and the little finger: see figure B-3b.
	www.handresearch.com /course/diseases-syndromes-3.htm (309 words)

	Disease - New World Encyclopedia Preview
		Disease may be due to such factors as genetic defect, infection, diet, physical or mental stress, the environment, or a combination of these factors.
		Sometimes the term disease is used broadly to include injuries, disabilities, syndromes, symptoms, infections, deviant behaviors, and atypical variations of structure and function, while in other contexts these may be considered distinguishable categories.
		However, many conditions have been identified, yet continue to be referred to as "syndromes.” Furthermore, numerous conditions of unknown etiology are referred to as "diseases" in many contexts.
	www.newworldencyclopedia.org /preview/Disease (2239 words)

	Contraception/Pregnancy/Lactation
		Despite the variety of approaches a consistent trend is seen with infants of women with epilepsy having roughly 2 to 3 times the number of infants with malformations when compared to the general population (Table 1).
		A syndrome of facial dysmorphism, pre- and post-natal growth deficiency, developmental delay, and minor anomalies has been described in children exposed to phenobarbital.
		First described by Van Creveld (1957) and delineated as a syndrome by Mountain (1970), it was initially associated with exposure to phenobarbital or primidone but has subsequently also been described in children exposed to phenytoin, carbamazepine, diazepam, mephobarbital, amobarbital, and ethosuximide.
	www.seizures.net /articles_epilepsy/contra.html (6599 words)

	eMedicine - Cleft Lip and Palate : Article by Marie M Tolarova, MD, PhD, DSc (Site not responding. Last check: 2007-10-12)
		The palate cleft may take 2 distinguishable forms—a V shape, which is most common in isolated clefts, or a U shape, which is most common in Robin sequence (see Pierre Robin Malformation) and in syndromic clefts.
		From a clinical point of view, 2 factors are most important when evaluating the risk of recurrence for CL/P—the sex of the individuals (ie, patient and individual at risk) and the severity of the affect in the patient (eg, unilateral vs bilateral).
		Warkany J, Nelson RS: Appearance of skeletal abonormalities in the offspring of rats reared on a deficient diet.
	www.emedicine.com /ped/topic2679.htm (6142 words)

	Aneuploidy - ArticleWorld
		The trisomy of the 8 chromosome, known as the Warkany syndrome-2.
		Some common trisomies that involve a sexual chromosome are the triple X syndrome, Klinefelter's syndrome (extra X chromosome on males) and the XYY syndrome (extra Y chromosome on males).
		The common human monosomies are the Turner syndrome (a missing X chromosome on females) and the cri-du-chat syndrome, the partial monosomy of the 5 chromosome.
	www.articleworld.org /index.php/Aneuploidy (309 words)

	Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial ...
		Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation -- Cormier-Daire et al.
		Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation
		Azouz EM, Kozlowski E. Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome.
	jmg.bmj.com /cgi/content/full/37/7/520 (1649 words)

	The Increase in the Incidence of Malformed Babies in the German Federal Republic (West Germany) During the Years ...
		In this syndrome the legs are markedly attenuated.
		Warkany has shown that when pregnant mice are given six times the normal dose of salicylates they will produce litters exhibiting anencephaly and spinal rachischisis
		Warkany, J. and Schraffenberger, E.: Congenital Malformations Induced in Rats by Roentgen Rays.
	www.acpoc.org /library/1994_02_062.asp (5323 words)

	Down Syndrome Information
		Down syndrome (also Down's syndrome) or trisomy 21 is a genetic condition resulting from the presence of all or part of an extra 21st chromosome.
		Until the middle of the 20th century, the cause of Down syndrome remained unknown, although the presence in all races, the association with older maternal age, and the rarity of recurrence had been noticed.
		Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations).
	downsyndrome.researchtoday.net /about-downsyndrome.htm (4061 words)

	Genome Biology \| Full text \| Primary and secondary transcriptional effects in the developing human Down syndrome brain ...
		In Down syndrome, there is a primary transcriptional effect of disruption of chromosome 21 gene expression, without a pervasive secondary effect on the remaining transcriptome.
		However, for significantly regulated genes that were not assigned to chromosome 21 (Table 2), a large percent were abundantly expressed and significantly different between TS21 and euploid samples only in the heart, but not in the brain.
		Additional data file 2 is a word document entitled 'Results of test for whether individual genes assigned to any chromosome were differentially expressed in TS21 relative to euploid samples'.
	genomebiology.com /2005/6/13/R107 (8089 words)

	New dental findings in the median cleft facial syndrome -- HARO MONTERO et al. 136 (5): 631 -- The Journal of the ...
		DeMyer W. The median cleft face syndrome: differential diagnosis of cranium bifidum occultum, hypertelorism, and median cleft nose, lip, and palate.
		Prenatal diagnosis of frontonasal dysplasia (median cleft syndrome).
		Warkany J, Bofinger MK, Benton C. Median cleft face syndrome in half sisters: dilemmas of genetic counseling.
	jada.ada.org /cgi/content/full/136/5/631 (1821 words)

	A hundred and fifty years of misuse of mercury and dental amalgam
		In 1945 an American physician, Warkany, got the idea to send a urine sample to a laboratory for metal analysis, because of the similarity in symptoms with arsenic and thallium poisonings.
		Warkany wrote that "its seems rather odd that one could not detect the injurious mercury at the entrance of the alimentary canal, whereas it could be demonstrated at the end of the urinary tract." The onset of disease could be delayed weeks to months after the mercury exposure.
		Warkany pointed out that the disease disappeared without any acrodynia foundation, no parent support group, no research money and in silence.
	www.art-bin.com /art/hanson_en.html (9411 words)

	Oxford University Press (Site not responding. Last check: 2007-10-12)
		Clinical and laboratory data on 130 syndromes are presented in a concise and consistent manner.
		Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene.
		They have described new syndromes, regionally mapped disease loci on the X chromosome, and in several cases isolated the genes responsible for X-linked syndromes.
	www.oup.com /ca/isbn/0-19-512981-4 (254 words)

	TheFetus.net - Hydranencephaly -Thomas C. Wheeler, MD*, Anh Dao, MD, Philippe Jeanty, MD, PhD
		Her obstetric history was significant for 2 previous spontaneous abortions.
		4: Case #2: Layering of the necrotic brain tissue is evident when the mother is placed in different position (left: supine, right: left lateral decubitus).
		The vascularization of the posterior fossa (gray vessels) is preserved.
	www.thefetus.net /page.php?id=116 (2043 words)

	Warkany syndrome -
		Both are named after Joseph Warkany, an what is warkany syndrome American human geneticist and pediatrician, 1902-1992.
		A disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person.
		Sometimes the term is used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function, while in other contexts these may be considered distinguishable categories.
	www.medicalgeo.com /Med-Diseases-U---Z/Warkany-syndrome.html (155 words)

	Mercury Intoxication and Arterial Hypertension: Report of Two Patients and Review of the Literature -- Torres et al. ... (Site not responding. Last check: 2007-10-12)
		2 patients with an infrequent cause of hypertension.
		A syndrome simulating pheochromocytoma secondary to elemental mercury intoxication has been reported in 6 children since 1984.
		Warkany J, Hubbard C Medical progress: acrodynia and mercury.
	pediatrics.aappublications.org /cgi/content/full/105/3/e34 (1586 words)

	eMedicine - Neural Tube Defects in the Neonatal Period : Article by Richard G Ellenbogen, MD (Site not responding. Last check: 2007-10-12)
		This syndrome is characterized by an occipital encephalocele that is associated with holoprosencephaly, orofacial clefts, microphthalmia, polycystic kidneys, and cardiac anomalies.
		The 2 neurologic sequelae of major concern are shunt-dependent hydrocephalus and hindbrain injury from progressive hindbrain herniation through the foramen magnum (Chiari II malformation).
		In 2 studies performed in the 1980s and 1990s, approximately 85-90% of all patients with NTD required a VP shunt for progressive hydrocephalus.
	www.emedicine.com /ped/topic2805.htm (11081 words)

	Embryonic Gut Anomalies in a Mouse Model of Retinoic Acid-Induced Caudal Regression Syndrome : Delayed Gut Looping, ...
		O and P: Ventral view of gut whole mounts (E12.5); control (O) showing well-formed second gut loop, RA-treated (P) showing an absence of the second gut loop (asterisk) resulting in the malrotation of this gut region, which prevents the cecum to be exposed on the ventral site of the gut as seen in the control.
		Warkany J: Congenital malformations induced in rats by maternal vitamin A deficiency.
		Wilson JG, Warkany J: Malformations in the genito-urinary tract induced by maternal vitamin A deficiency in rat.
	ajp.amjpathol.org /cgi/content/full/159/6/2321 (6121 words)

	Pathways of Vitamin A Delivery to the Embryo: Insights from a New Tunable Model of Embryonic Vitamin A Deficiency -- ...
		Wilson JG, Warkany J 1948 Malformation in the genitourinary tract induced by maternal vitamin A deficiency in the rat.
		Wilson JG, Warkany J 1949 Aortic arch and cardiac anomalies in the offspring of vitamin A deficient rats.
		Warkany J, Schraffenberger E 1946 Congenital malformations induced in rats by maternal vitamin A deficiency.
	endo.endojournals.org /cgi/content/full/146/10/4479 (6836 words)

	Postgraduate Medicine: Seizuare Management Symposium: Women's issues in epilepsy
		Additionally, women with epilepsy are at higher risk for reproductive endocrine disorders, particularly polycystic ovarian syndrome and hypogonadotropic or hypergonadotropic hypogonadism, and for menstrual cycle disturbances that entail a higher incidence of anovulatory cycles (2).
		The risk of congenital fetal anomaly in the general population is estimated at 2% to 3%, but the risk is two to three times higher in mothers with epilepsy, regardless of medication (13).
		Current guidelines recommend the oral administration of 2 mg of vitamin K at birth, at the end of the first week, and in the fourth week of life (30).
	postgradmed.com /issues/1997/07_97/liporace.htm (3828 words)

	Prune Belly Syndrome
		The exact cause of Prune-Belly Syndrome is not known.
		The exact cause of Prune Belly Syndrome is unknown.
		Prune Belly Syndrome is a very rare disorder that is present at birth.
	hw.healthdialog.com /kbase/nord/nord478.htm (1170 words)

	Mercury Poisoning and Autism
		Autism, or Autistic Spectrum Disorder (ASD), is considered a neurodevelopmental syndrome, emerging early in life and exhibiting a constellation of seemingly unrelated features and a wide variation in symptom expression and level of severity by individual (Filipek et al, 1999; Bailey et al, 1996).
		Formerly regarded as a rare disease, autism is now said to affect one in 500 children (Bristol et al, 1996), with some estimates suggesting one in 100 for a broader phenotype often labeled as the "autism-spectrum" of disorders and which includes both higher and lower functioning individuals (Arvidsson et al, 1997; Wing, 1996).
		Acrodynia, a syndrome with symptoms similar to autistic traits, is considered a pathology mainly of the CNS arising from degeneration of the cerebral and cerebellar cortex (Matheson et al, 1980).
	www.mercury-poison.com /autism.htm (14831 words)

	Chromosome 8, Trisomy, Warkany Syndrome, and ...
		Giedion (1966) delineated a syndrome consisting of thin and slowly growing hair, pear-shaped nose with high philtrum, brachyphalangy with deformation of the fingers and wedge-shaped epiphyses...
		a kindred in which 9 persons in 4 generations showed a syndrome of sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening...
		differentiated from Ruvalcaba syndrome by the absence of mental retardation and microcephaly and the presence of other changes resembling those of trichorhinophalangeal syndrome...
	ibis-birthdefects.org /start/chrom8.htm (504 words)

	AUTISM RESEARCH INSTITUTE
		Autism is a syndrome characterized by impairments in social relatedness, language and communication, a need for routine and sameness, abnormal movements, and sensory dysfunction.
		Acrocyanosis is an uncommon disorder of poor circulation in which skin on the hands and feet turn red and blue; there is profuse sweating; and the fingers and toes are persistently cold (Carpenter and Morris, 1991).
		Some ASD individuals have unusual opioid peptide fragments in urine; these peptides are believed to enter the bloodstream due to a leaky gut and to result from an incomplete breakdown of gluten and casein in the diet possibly arising from "inadequacy of the [endopeptidase] enzyme systems which are responsible for their breakdown" (Shattock, 1997).
	www.angelfire.com /zine2/healthplan/autism.html (10742 words)

	Hisorical
		They indeed seemed to resemble the two children that I had seen; however, their radially deviated thumbs were different from my two cases, so I wasnât completely certain.
		In 1963, Dr. Taybi and I reported on seven children, 2 girls and 5 boys, that we had seen with broad thumbs and great toes together with âunusualâ facial features as a possible mental retardation syndrome (Fig 3).
		The 1998 International Family Conference on Rubinstein-Taybi Syndrome is very grateful for the generous support of The Special Friends Foundation.
	www.rubinstein-taybi.org /bluebook/hisorical.html (797 words)

	Amazon.fr : Message in a Bottle: The Making of Fetal Alcohol Syndrome: Livres en anglais: Janet Golden (Site not responding. Last check: 2007-10-12)
		For example, Josef Warkany's monumental 1971 work on congenital malformations did not indict alcohol nor even include it in the index (the complete syndrome includes malformations of the face, viscera, and brain).
		The concept of a fetal alcohol syndrome emerged in the 1960s and 1970s, during a revolutionary expansion of knowledge about teratogenesis.
		It was the era of the realization that "the face predicts the brain," when physicians recognized many face-brain malformation syndromes and correlated them with abnormal karyotypes or exogenous teratogens.
	www.amazon.fr /Message-Bottle-Making-Alcohol-Syndrome/dp/0674022378 (962 words)

	Warts: Oral zinc for warts - Literature Review & Commentary - Brief Article at The Medical Dictionary (Site not responding. Last check: 2007-10-12)
		At baseline, the mean serum zinc concentration was approximately 27% lower in the patients than in healthy controls, although none of the patients had signs or symptoms of zinc deficiency.
		In the zinc-treated group, 20 of 23 patients (86.9%) had complete disappearance of warts after 2 months, and 14 (60.9%) had complete disappearance of warts after 1 month.
		Signs and symptoms of wart regression occurred in all patients treated with zinc: these included itching, tenderness, and a transient increase in the size or number of warts.
	the-medical-dictionary.com /warts_article_6.htm (788 words)

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