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Topic: Karsch Neugebauer syndrome

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	Skeleton - DIAGNOSIS OF FETAL ABNORMALITIES - THE 18-23 WEEKS SCAN
		The incidental discovery of a skeletal dysplasia on routine ultrasound screening, in a pregnancy not known to be at risk of a specific syndrome, necessitates a systematic examination to arrive at the correct diagnosis.
		This lethal, autosomal recessive syndrome with a birth prevalence of 1 in 200 000 is characterized by shortening and bowing of the long bones of the legs, narrow chest, hypoplastic scapulae, and large calvarium with disproportionately small face.
		The three syndromes that should be considered part of the differential diagnosis include the VATER association (vertebral segmentation, ventricular septal defect, anal atresia, tracheoesophageal fistula, radial and renal defects, and single umbilical artery), Goldenhar syndrome and the Klippel–Feil syndrome.
	www.thefetus.net /html/chapter-09/skeleton.html (3214 words)

	The 18-23-week scan - Chapter 9.05 (Site not responding. Last check: 2007-10-19)
		The term ‘split hand and foot’ syndrome refers to a group of disorders characterized by splitting of the hand and foot into two parts; other terms include lobster-claw deformity and ectrodactyly.
		The atypical variety (found in 1 per 150,000 births) is characterized by a much wider cleft formed by a defect of the metacarpals and the middle fingers; the cleft is U-shaped and wide, with only the thumb and small finger remaining.
		Ectrodactyly–ectodermal dysplasia–cleft lip/palate syndrome (EEC syndrome), which is autosomal dominant, involves the four extremities with more severe deformities of the hands; the spectrum of ectodermal defects is wide, including dry skin, sparse hair, dental defects and defects of the tear duct.
	www.fetalmedicine.com /18-23scanbook/Chapter9/chap09-05.htm (219 words)

	[No title]
		In a father and daughter with split-hand/split-foot deformity, Karsch (1936) found horizontal undulatory nystagmus, squint, fundal changes and cataract, which in the father appeared at a late age and in the daughter appeared earlier.
		Neugebauer (1962) described affected half sibs, a brother and sister aged 7 months and 42 months, respectively.
		If this is the case, the report of 2 affected sibs born to healthy parents is the second instance of apparent gonadal mosaicism; Neugebauer (1962) described an affected male and female with the same unaffected mother but different fathers.
	srs.sanger.ac.uk /srsbin/cgi-bin/wgetz?[omim-ID:183800]+-e (280 words)

	TheFetus.net - Split hand — split foot syndrome -Elke Sleurs, MD&, Luc De Catte, MD, George E. Tiller, MD, PhD#
		Ectrodactyly - ectodermal dysplasia — cleft syndrome: ectrodactyly, syndactyly of hands and feet, atypical anhidrotic ectodermal dysplasia, cleft lip with or without cleft palate; lacrimal duct abnormalities and urogenital abnormalities can be associated (4), as well as omphalocele and anal atresia (5,6).
		Multiple synostoses syndrome: limb malformations are synostosis of elbows, fingers, wrist and foot; brachydactyly; absent/hypoplastic middle phalanges; absent/hypoplastic proximal interphalangeal flexion creases; short, broad metacarpals; radial head dislocation; abnormal toes; as well as absent /hypoplastic nails, thorax and nose deformities.(2)
		Adams-Oliver syndrome: variable distal limb reduction abnormalities in conjunction with defects of the calvarium and scalp.
	www.thefetus.net /page.php?id=374 (1162 words)

	Congenital disorder - Wikipedia, the free encyclopedia
		A congenital malformation is a deleterious physical anomaly, a structural defect perceived as a problem.
		A recognizable combination of malformations or problems affecting more than one body part is referred to as a malformation syndrome.
		Genetic diseases or disorders are all congenital, though they may not be expressed or recognized until later in life.
	www.wikipedia.org /wiki/Birth_defect (930 words)

	P63 mutations are not a major cause of non-syndromic split hand/foot malformation -- de Mollerat et al. 40 (1): 55 -- ...
		syndrome) and one with seizures and mental retardation.
		P63 mutations in EEC syndrome, Limb-Mammary Syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
		Rodini ES, Nardi A, Guion-Almeida ML, Richieri-Costa A. Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome.
	jmg.bmjjournals.com /cgi/content/full/40/1/55 (3720 words)

	Birth Disorder Information Directory - K
		Koussef Nichols Syndrome (Noonan-Like Contracture with Myopathy and Hyperpyrexia)
		Krauss Herman Holmes Syndrome (Carpal Deformity with Micrognathia and Microstomia)
		Krieble Bixler Syndrome (Hypotelorism with Cleft Palate and Hypospadias)
	www.bdid.com /defectk.htm (527 words)

	MedicalGeo.com - Diseases I - K
		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.
		The subject of systematic classification of diseases is referred to as nosology.
	www.medicalgeo.com /Med-Diseases-I---K (83 words)

	Split Hand Deformity
		Ectrodactyl-Ectodermal Dysplasia Clefting Syndrome is a genetic disorder which may be characterized by an absence of fingers and/or toes (ectrodactyly); an absence of tear ducts; cleft lip and/or palate; and sparse scalp hair, lashes and eyebrows.
		Investigators from the Intermountain Unit of Shriners Hospitals for Children, the University of Utah Department of Pediatrics, and the Eccles Institute of Human Genetics are collaborating on a project to map and characterize genes causing multiple congenital contracture disorders and limb deficiency/duplication syndromes.
		The disorders being studied are: autosomal dominant clubfoot, distal arthrogryposis type I, Gordon Syndrome, Freeman-Sheldon Syndome, Trismus Pseudocamptodactyly, autosomal dominant Multiple Pterygium Syndrome, autosomal ulnar hypoplasia ectrodactyly disorders, ulnar mammary syndrome, Holt-Oram Syndrome, and fibular hypoplasia.
	hw.healthdialog.com /kbase/nord/nord693.htm (893 words)

	Ultrasound Clinical Handbook - Browsing Documents
		The EEC syndrome is characterized by ectrodactyly, ectodermal defects and facial clefting (see separate text under this heading).
		Fontaine syndrome (mandibulofacial dysostosis) is an autosomal dominant disorder characterised by ectrodactyly and syndactyly of the foot (SF), with cleft palate and microretrognathia.
		The Karsch-Neugebauer syndrome is characterised by the association of SH/SF and congenital nystagmus.
	www.pear.co.nz /asum/doc.php?d=385&t=4182&tab=2 (211 words)

	A Risk-Benefit Assessment of Tramadol (Site not responding. Last check: 2007-10-19)
		Only few controlled studies have been published with tramadol for chronic non-malignant pain syndromes, although its use for this indication is widespread in Germany.
		Although tramadol is being used for a variety of acute pain syndromes in Germany, only one controlled double-blind studies has been published for these indications.
		In cancer pain patients it is not uncommon that pain relief from tramadol becomes inadequate after some weeks or month, as nociceptive input increases with tumour progression, requiring a change to more potent opioids; switching from tramadol to morphine is easy.
	www.uni-koeln.de /med-fak/anaesthesie/schmerz/publikationen/tramal/tramalrev.htm (8099 words)

	Entry Page (Site not responding. Last check: 2007-10-19)
		The second type, the EEC syndrome (129900), which combines ectrodactyly with ectodermal defects and cleft lip-palate, has monodactyly less frequently and has more variable limb malformations.
		They reviewed the clinical and genetic features of 9 types of syndromic ectrodactyly: EEC syndrome (129900), LADD syndrome (149730), ADULT syndrome (103285), EEC syndrome without cleft lip/palate (129810), Fontaine syndrome (183700), acral-renal-mandibular syndrome (200980), ECP syndrome (129830), ectrodactyly and hearing loss (220600), and Karsch-Neugebauer syndrome (183800).
		They also demonstrated that DLX5 (600028), a member of the distal-less homeo box gene family, and another DLX gene (DLX6; 600030) are located in the SHFM1 critical interval and thus are candidate genes.
	walnut.bioc.columbia.edu /srs7bin/cgi-bin/wgetz?-id+1cESV1MgpxI+[omim-ID:183600]+-e (2943 words)

	Lobster Claw Deformity (Site not responding. Last check: 2007-10-19)
		HYPEROSTOSIS CORTICALIS GENERALISATA Van de Berghe Dequeker Syndrome (Ulnar Hypoplasia Lobster Claw Deformity of Feet) Van de berghe dequeker syndrome ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF A case of congenital abnormalities; lobster claw deformity.
		Finally, his three fingered hand is similar to a birth defect known as the lobster claw deformity.
		split foot syndrome -Elke Sleurs, MD The common name of this is "lobster-claw" deformity, and the medical term is ectrodactyly.
	www.irock78.info /lobster-claw-deformity.html (584 words)

	lobster claw deformity : your one-stop shop for lobster claw deformity information (Site not responding. Last check: 2007-10-19)
		Fortunately extremely rare, it is associated with inherited skin conditions such as GOLTZ syndrome...
		Ulna hypoplasia mental retardation Ulna metaphyseal dysplasia syndrome Ulnar hypoplasia lobster claw deformity of feet Umbilical cord ulceration intestinal atresia Uncombable hair syndrome...
		dysplasia syndrome Ulnar / fibula ray defect, with brachydactyly Ulnar hypoplasia lobster claw deformity of feet Ulnar mammary syndrome Ulnar mammary syndrome of pallister Umbilical cord...
	www.lobsterz.net /q/lobsterclawdeformity (1033 words)

	Lobster Claw Deformity - Super Lobster Guide
		Ulnar hypoplasia lobster claw deformity of feet; Umbilical cord ulceration intestinal atresia; Uncombable hair syndrome; Uniparental disomy of 11...
		Van de Berghe Dequeker Syndrome (Ulnar Hypoplasia Lobster Claw Deformity of Feet).
		Van de berghe dequeker syndrome · ULNAR HYPOPLASIA WITH LOBSTER - CLAW...
	www.superlobsterguide.com /lobster-claw-deformity.html (773 words)

	Lobster Claw Hand - Super Lobster Guide
		Orodental abnormalities in lobster claw syndrome (a type of...
		ABSTRACT: Lobster Claw Syndrome is a type of syndactyly, where abnormalities in the hand -foot region as well as the orodental region occur.
		Split hand /foot malformation (SHFM) or ectrodactyly (the " lobster claw " anomaly), is a severe congenital malformation syndrome characterised by a profound...
	www.superlobsterguide.com /lobster-claw-hand.html (736 words)

	Ultrasound Clinical Handbook - Browsing Documents
		The defect can be isolated or may be part of a syndrome.
		Title: The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to
		Title: EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2 q21.3
	www.pear.co.nz /asum/doc.php?d=385&t=0&tab=5 (688 words)

	Information Center for Rare Diseases and Orphan Drugs
		This is a list of 6073 rare conditions (diseases and syndromes), compiled from different information sources (Orphanet, NORD etc.).
		It is not exhaustive, but can be used for educational and illustrative purposes.
		fanconi syndrome renal with nephrocalcinosis and renal stones
	www.raredis.org /modules/sections/index.php?op=printpage&artid=26 (196 words)

	published to july 97 (Site not responding. Last check: 2007-10-19)
		29 Axel DI, Frigge A, Dittman J, Runge H, Spyridopoulos I, Riessen R, Viebahn R, Karsch K. All-trans retinoic acid regulates proliferation, migration, differentiation and extracellular matrix turnover of human arterial smooth muscle cells.
		Microvessel damage in acute respiratory distress syndrome: the answer may not be NO. Br J Anaesthesia 2001; 87: 272-279
		Reissen R, Fenchel M, Chen H, Axel DI, Karsch KR, Lawler J. Cartilage oligomeric matric protein (Thrombospondin-5) is expressed by human vascular smooth muscle cells.
	www.bris.ac.uk /bhi/publications/2001.html (1880 words)

	[No title]
		Bacteraemia in 3 Amazon Parrots Diagnosed with Chronic Fatigue Syndrome (CFS).
		NEUGEBAUER U1, HOLZGRABE U2, POPP J1, 1Institut of Physical Chemistry, FSU Jena, Jena, Germany 2Institute of Pharmacy, University of Würzburg, Am Hubland, Würzburg, Germany.
		Category: Mechanisms of pharmacological importance 220 The Nociception/Antinociception of Sodium Channels Modulators Originating from Buthus martensi Karsch (BmK) Venom on the Inflammatory Pain.
	www.ehrlich2004.org /pdf/WCDA_Posters.txt (10966 words)

	[No title] (Site not responding. Last check: 2007-10-19)
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		Kaler garrity stern syndrome de Kallin syndrome de Kallmann syndrome cardiopathie Kallmann, syndrome de Kalyanraman syndrome de Kantaputra gorlin syndrome de Kaplan-Plauchu-Fitch, syndrome de...
		Kabuki make up syndrome Kalam Hafeez syndrome Kaler Garrity Stern syndrome Kallikrein hypertension Kallmann syndrome with Spastic paraplegia Kallmann syndrome with heart disease Kallmann syndrome, type 1, X...
	www.foersterwelt.de /9211 (318 words)

	Infotrieve Online (Site not responding. Last check: 2007-10-19)
		Renal defects and limb deficiencies in 197 infants: is it possible to define the "acrorenal syndrome"?
		Pfeiffer syndrome type 2: further delineation and review of the literature.
		Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations.
	www4.infotrieve.com /newmedline/summary.asp?presearch=1&term=Cobben%20JM (496 words)

	Acrorenal
		Lipoatrophy syndromes: when âtoo little fatâ is a clinical...
		The new syndrome is called "Acrorenal syndrome-Nallegowda type", The article
		Acrorenal syndrome recessive Acrorenoocular syndrome Acrospiroma ACTH deficiency
	health.cancer-help.org /web/Acrorenal.html (374 words)

	Birth Disorder Information Directory - N
		Nance Horan Syndrome (Cataract-Dental Syndrome; Cataract, X-Linked, with Hutchinsonian Teeth; Mesiodens-Cataract Syndrome)
		Nance Insley Syndrome (Chondrodystrophy with Sensorineural Deafness, Nance Sweeny Chondrodysplasia, Otospondylomegaepiphyseal Dysplasia)
		Nevus Sebaceus of Jadassohn (Epidermal Nevus Syndrome; Jadassohn Nevus Phakomatosis; Sebaceus Nevus Syndrome, Linear)
	www.bdid.com /defectn.htm (130 words)

	neugebauer - OneLook Dictionary Search
		We found one dictionary with English definitions that includes the word neugebauer:
		Tip: Click on the first link on a line below to go directly to a page where "neugebauer" is defined.
		Phrases that include neugebauer: becklin neugebauer object, karsch neugebauer syndrome
	onelook.com /?w=neugebauer (81 words)

	Hill Health Topics A-Z List: K
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	www.healthwise.net /hillhealth/Find/List.aspx?LETTER=K (184 words)

	The Levels of the bancal Product, a Drosophila Homologue of Vertebrate hnRNP K Protein, Affect Cell Proliferation and ...
		Three-dimensional structure and stability of the KH domain: molecular insights into the fragile X syndrome.
		Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome.
		Functional conservation of the transportin nuclear import pathway in divergent organisms.
	mcb.asm.org /cgi/content/full/19/11/7846 (6704 words)

	HistCite - index: Cost Effectiveness
		Cost-effectiveness analysis of enoxaparin versus unfractionated heparin in the secondary prevention of acute coronary syndrome
		Gandjour A; Schlichtherle S; Neugebauer A; Russmann W; Lauterbach KW A cost-effectiveness model of screening strategies for amblyopia and risk factors and its application in a German setting
		Costs and cost-effectiveness of Eptifibaticle in the treatment of coronary ischemic syndromes.
	www.garfield.library.upenn.edu /histcomp/cost-effectiveness_or/index-py-15.html (5799 words)

	HistCite - index: Cost Effectiveness
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		Serological testing for coeliac disease in patients with symptoms of irritable bowel syndrome: a cost-effectiveness analysis
	garfield.library.upenn.edu /histcomp/cost-effectiveness_or/index-17.html (6293 words)

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