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61. Searchalot Directory For Pallister Killian Mosaic Syndrome
Sponsored Links. Top Health Conditions and Diseases Genetic Disorders PallisterKillian Mosaic syndrome (3). Related Web Sites.
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62. Vindex, De Vindplaats Van Het Nederlandse Web
Health Conditions and Diseases Genetic Disorders Pallister Killian Mosaicsyndrome. Verwante Rubrieken, Links, NORD Pallister Killian Mosaic syndrome.
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Links NORD - Pallister Killian Mosaic Syndrome Gevonden in rubriek: Health Conditions and Diseases Genetic Disorders Pallister Killian Mosaic Syndrome Omschrijving: Offers the synonyms, a general discussion and further resources. Pediatric Database Gevonden in rubriek: Health Conditions and Diseases Genetic Disorders Pallister Killian Mosaic Syndrome Omschrijving: A definition of Pallister-Killian syndrome, the epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/PALLISTE.HTM National Library of Medicine Gevonden in rubriek: Health Conditions and Diseases Genetic Disorders Pallister Killian Mosaic Syndrome Omschrijving: The synonyms of Killian syndrome, a summary and a list of major features.

63. AnsMe Directory - Health > Conditions And Diseases > T
TaySachs Disease. Temporal Lobectomy Behavior syndrome. Tendonitis. Teschler-Nicolasyndrome. Testicular Cancer. Thalasemmia. Thoracic Outlet syndrome.
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64. Education & Research - Geisinger Health System - Internal Medicine Pediatrics Re
Ohman, AB Jr, Pride, HB, Papa, CA. What syndrome is This? KillianTeschler-Nicolasyndrome. Pediatr Dermatol 2001 17(2)151-3. McBride
http://www.geisinger.org/education/residencies/med_peds/abstracts.shtml
Abstracts Lewis, S. Culture Negative Endocarditis and PCR Analysis. In: Abstracts of ACP-ASIM Annual Session; March 29 - April 1, 2001; Atlanta, GA Ohman, AB Jr, Pride, HB, Papa, CA. What Syndrome is This? Killian-Teschler-Nicola Syndrome. Pediatr Dermatol 2001 17(2):151-3. McBride, T. Culture Negative Endocarditis and PCR Analysis. In: Abstracts of ACP-ASIM PA Coalition for Internal Medicine Scientific Meeting; Oct. 27-29, 2000; Harrisburg, PA Pope, S. Isocyanate Exposure Causing Diffuse Alveolar Hemorrhage in a Forty year-old Welder. In: Abstracts of ACP-ASIM Coalition for Internal Medicine Scientific Meeting; Oct. 27-29, 2000; Harrisburg, PA Spahr, J., Potteiger, C. Cardiac Tamponade as the Initial Presentation of Systemic Lupus Erythematosus in a 39 year-old male. In: Abstracts of ACP-ASIM Coalition for Internal Medicine Scientific Meeting; Oct. 27-29, 2000; Harrisburg, PA Burstynowicz, L. An Unusual Cause of Back Pain: Hemangiopericytoma Presenting as a Back Mass. In: Abstracts of ACP-ASIM Coalition for Internal Medicine Scientific Meeting; Oct. 27-29, 2000; Harrisburg, PA

65. Heiti Og Lýsingar Sjald
org/ygyh/mason/index Fragile X Marfan syndrome Hemophilia Cystic Fibrosis Duchenne/BeckerMuscular Dystropy PKU-Phenylketonuria Huntington Disease
http://www.islandia.is/viggast/Heiti sjukdoma.htm

66. Anthropologie
W. (1981) Case Report 72. syndrome Identification. Vol. 7, No. 1, 6.
http://www.nhm-wien.ac.at/NHM/Anthro/tpubl.html
a.o.Univ.Prof. Dr. Maria Teschler-Nicola Abteilungsdirektorin , Tel: +43 1 52177 maria.teschler@univie.ac.at Curriculum, Forschungsprojekte Download: M Teschler Publikationen.pdf (28 KB) Download: M Teschler Publikationen .rtf
Publikationsliste (Publications)
(Stand 1. November 2000)
Originalarbeiten (inklusive Abstracts)/Original articles and abstracts Mycobacterium tuberculosis . Coll. Antropol Coll. Antropol The FASEB Journal (Federation of American Societies for Experimental Biology), 13, No. 3, 559-562. Top 110 Latkoczy, C., Prohaska, T., Watkins, M., Stingeder, G., Teschler-Nicola, M., Online matrix separation by coupling liquid chromatography to an inductively coupled plasma sectorfield mass spectrometer (HPLC-ICP-SMS) for accurate strontium isotopic ratio determination in prehistoric samples (i.p.). Homo. 49, Suppl., p. 78 (A). XIIth European Meeting of the Paleopathology Association , Prag/Pilsen, 26.-29.8.1998, p. 10 (A).

67. Pallister-Killians Syndrom - Små Och Mindre Kända Handikappgrupper
K. A case of mosaic tetrasomy 12p (PallisterKillian syndrome) diagnosed prenatally Teschler-NicolaM, Killian W. Case report 72 Mental retardation, unusual
http://www.sos.se/smkh/1999-29-086/1999-29-086.htm
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68. EMedicine - Hearing Impairment : Article By Michael Lotke, MD
Mental (retardation) Noonan syndrome (Sp, SNHL, +); Killian/TeschlerNicolasyndrome (Sp, SNHL, +); Cockayne syndrome, type I (AR, SNHL, +);
http://www.emedicine.com/PED/topic931.htm
(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Otolaryngology
Hearing Impairment
Last Updated: January 24, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: deafness, hard-of-hearing, hearing loss, conductive hearing loss, CHL, sensorineural hearing loss, SNHL, mixed hearing loss, American Sign Language, English Sign Language, lip-reading, lipreading AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography
Author: Michael Lotke, MD , Pediatric Residency Program Director, Mount Sinai Hospital; Assistant Professor, Department of Pediatrics, Finch University School of Health Sciences/Chicago Medical School Michael Lotke, MD, is a member of the following medical societies: American Academy of Pediatrics , and American Public Health Association Editor(s): Orval Brown, MD , Director of Otolaryngology Clinic, Professor, Department of Otolaryngology-Head and Neck Surgery, University of Texas Southwestern Medical Center at Dallas; Robert Konop, PharmD

69. Hipotonoa
Translate this page S. Killian-teschler-nicola. 19 Guillain G, Barré JA, Strohl A. Sur un syndromede radiculoneurite avec hiperalbuminose du LCR sans reaction cellulaire.
http://ceril.cl/P28_hipotonia.htm
DIAGNOSTICO desarrollo psicomotor
EXAMENES COMPLEMENTARIOS: Sangre: Orina: LCR: Neuroimagen NEUROPATIAS HEREDITARIAS SENSITIVO-MOTRICES -Comienzo en la edad escolar. Incidencia de 1 cada 2.500 personas(15). -Clínica: - Hipotonía y deformidades segmentarias (pie plano-valgo, pie cavo, pie equinovaro con marcha en "steppage" compensatoria). -Hiporeflexia y arreflexia en fases posteriores. -Hipoestesia y temblor distal. -Biopsia de nervio: fenómeno de desmielinización-remielinización con imagen típica en "bulbos de cebolla" NHSM II: Forma neuronal de enfermedad de Charcot -Comienzan en edad adulta, pero existen casos precoces. -Reflejos osteotendinosos conservados. -Calambres y manifestaciones dolorosas. -Deformaciones segmentarias,sobre todo en pies. -LCR: hiperproteinorraquia. -Biopsia de nervio: Fenómeno de desmielinización-remielinización, con imagen en "bulbos de cebolla" LCR: hiperproteinorraquia VC: elentecimiento de la misma.

70. Pallister Killian Mosaic Syndrome Information Sites
Health Conditions and Diseases Rare Disorders. NORD Pallister Killian MosaicSyndrome - Offers the synonyms, a general discussion and further resources.
http://www.medicalorg.com/ConditionsandDiseases/GeneticDisorders/PallisterKillia
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71. Search Jablonski's Syndromes Database
Taylor J et al Nephrotic syndromes and hypertension in two children with Hurlersyndrome. J Pediat, 1986, 1087269 MEDLINE. teschler-nicola M, Killian W
http://cchs-dl.slis.ua.edu/cgi/clickthrough.cgi/CT=http_3a_2f_2fwww_2enlm_2enih_
Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
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Syndrome mucopolysaccharidosis (MPS) I Synonyms Ellis-Sheldon syndrome Hurler disease Hurler syndrome Hurler-Pfaundler syndrome Johnie McL syndrome Pfaundler-Hurler syndrome Thompson syndrome alpha-L-iduronidase (IDA, IDUA) deficiency chondro-osteodystrophy-corneal opacities-hepatosplenomegaly mental deficiency syndrome dysostotic idiocy-gargoylism-lipochondrodystrophy syndrome mucopolysaccharide storage disease I Formerly Known mucopolysaccharide storage disease V mucopolysaccharidosis (MPS) V Personalia Ellis, Richard White Bernhard (British pediatrician, 1902-1966) Hurler, Gertrud (German pediatrician, 1889-1965) Scheie, Harold Glendon (American ophthalmologist, born 1909) Sheldon, Sir Wilfrid (British pediatrician, born 1901) Spät Thompson, John Ullrich, Otto (German pediatrician, 1894-1957) von Pfaundler, Meinhard (German pediatrician, born 1901) MeSH Mucopolysaccharidosis I OMIM Summary Major Features Head and neck: Coarse (gargyloid) facies, macrocephaly with frontal bulging, scaphoidocephaly, premature closure of sagittal and metopic sutures, J-shaped sella turcica, full cheeks, and prominent nasolabial fold. Ears: Thick earlobes.

72. Pallister Killian Mosaic Syndrome Website Results :: Linkspider UK
Pallister Killian Mosaic syndrome Websites from Linkspider UK. KeywordPallister Killian Mosaic syndrome. Linkspider UK Directory
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73. Neurobio-www.uia.ac.be/neurobio/CJD/RefInternet/CJD_2000.txt
(2000). ³Analyses of GerstmannStraussler syndrome with 102Leu219Lys using monoclonal Jun46(4) 731-741. Schamall, D., M. Teschler Nicola, et al. (1999).
http://neurobio-www.uia.ac.be/neurobio/CJD/RefInternet/CJD_2000.txt
2000). ³UK and France still at 'war' over BSE.² Australian Veterinary Journal. 78(2): 130. (2000). ³The BSE inquiry: chairman's closing statement.² Veterinary Record. 146(1): 2-3. (2000). ³Study links BSE and deadly human brain disease.² Journal Of The American Veterinary Medical Association. 216(4): 473. (2000). ³CJD and the spongiform encephalopathies.² British Journal Of Ophthalmology. 84(4): 346. (2000). ³BSE still a big problem - EU had 3000 cases in 1999.² Australian Veterinary Journal. 78(4): 230. (2000). ³Global infection - It's official: even in countries that deny it, some cattle are likely to be harbouring BSE.² New Scientist. Jun 166(2242): 4. (2000). ³BSE confirmed in a cow born after August 1, 1996.² Veterinary Record. Jul 147(2): 30. (2000). ³BSE: new guidelines from MAFF.² Veterinary Record. Jun 146(26): 743-744. Aguzzi, A. (2000). ³Prion diseases, blood and the immune system: concerns and reality.² Haematologica . 85(1): 3-10. Aldhous, P. (2000). ³CJD survey offers Britain a glimmer of hope.² Nature . 405(6782): 7. Allroggen, H., G. Dennis, et al. (2000). ³New variant Creutzfeldt-Jakob disease: three case reports from Leicestershire.² Journal Of Neurology Neurosurgery And Psychiatry. 68(3): 375-378. Alperovich, A. (2000). ³Codon 129 prion protein genotype and sporadic Creutzfeld-Jakob disease (vol 353, pg 1673, 1999).² Lancet . 355(9197): 72. Alperovitch, A. (2000). ³Variant CJD: finding a needle in a haystack?² Hospital Medicine. 61(2): 145. Alter, M. (2000). ³How is Creutzfeldt-Jakob disease acquired?² Neuroepidemiology . 19(2): 55-61. Altman, M., P. Lee, et al. (2000). ³Conformational behavior of ionic self-complementary peptides.² Protein Science. Jun 9(6): 1095-1105. Andrews, N. J., C. P. Farrington, et al. (2000). ³Incidence of variant Creutzfeldt-Jakob disease in the UK.² Lancet . 356(9228): 481-482. Armstrong, R. A., N. J. Cairns, et al. (2000). ³The spatial pattern of the vacuolation in patients with sporadic Creutzfeldt-Jakob disease.² Neuroscience Letters. 281(2-3): 187-190. Armstrong, R. A. (2000). ³Analysis of spatial patterns in histological sections of brain tissue using a method based on regression.² Journal Of Neuroscience Methods. 95(1): 39-45. Arrigo, A. P. (2000). ³sHsp as novel regulators of programmed cell death and tumorigenicity.² Pathologie Biologie. 48(3): 280-288. Atlan, H. (1999). ³Epigenesis and self-organization: new perspectives in Biology and Medicine.² Bulletin De L Academie Nationale De Medecine 183(7): 1421-1437. Barclay, G. R., R. Munks, et al. (1999). ³Variant Creutzfeldt-Jakob disease is not related to underlying IgA deficiency.² Transfusion Medicine 9(4): 383-384. Baron, T. G. M., J. Y. Madec, et al. (2000). ³Comparison of French natural scrapie isolates with bovine spongiform encephalopathy and experimental scrapie infected sheep.² Neuroscience Letters. 284(3): 175-178. Baskakov, I. V., C. Aagaard, et al. (2000). ³Self-assembly of recombinant prion protein of 106 residues.² Biochemistry . 39(10): 2792-2804. Baumann, M. H., J. Kallijarvi, et al. (2000). ³Apolipoprotein E includes a binding site which is recognized by several amyloidogenic polypeptides.² Biochemical Journal. Jul 1: 77-84. Beck, J. A., S. Lloyd, et al. (2000). ³Genealogies of mouse inbred strains.² Nature Genetics. 24(1): 23-25. Beebe, D. W., G. N. Holmbeck, et al. (1999). ³Normative and psychometric data on the body image assessment-revised.² Journal Of Personality Assessment. 73(3): 374-394. Beekes, M. and P. A. McBride (2000). ³Early accumulation of pathological PrP in the enteric nervous system and gut-associated lymphoid tissue of hamsters orally infected with scrapie.² Neuroscience Letters. 278(3): 181-184. Benvenga, S., A. Campenni, et al. (1999). ³Internal repeats of prion protein and A beta PP, and reciprocal similarity with the amyloid-related proteins.² Amyloid International Journal Of Experimental And Clinical Investigation. 6(4): 250-255. Berger, D., M. Filippov, et al. (1999). ³Experimental determination of energy resolution and transmission characteristics of an electrostatic toroidal spectrometer adapted to a standard scanning electron microscope.² Journal Of Electron Spectroscopy And Related Phenomena. 105(2-3): 119-127. Beringue, V., M. Demoy, et al. (2000). ³Role of spleen macrophages in the clearance of scrapie agent early in pathogenesis.² Journal Of Pathology. 190(4): 495-502. Bidou, L., G. Stahl, et al. (2000). ³Nonsense-mediated decay mutants do not affect programmed-1 frameshifting.² Rna A Publication Of The Rna Society. Jul 6(7): 952-961. Birchard, K. (2000). ³BSE-testing time for European cattle.² Lancet . 355(9211): 1252. Blanquet Grossard, F., V. Sazdovitch, et al. (2000). ³Prion protein is not detectable in dental pulp from patients with Creutzfeldt-Jakob disease.² Journal Of Dental Research. 79(2): 700. Bleich, S., S. Kropp, et al. (2000). ³Creutzfeldt-Jakob disease and oxidative stress.² Acta Neurologica Scandinavica. 101(5): 332-334. Bohr, H. (2000). ³The intrinsic dynamics of proteins and the prion disease.² Mathematical And Computer Modelling. 31(4-5): 1-9. Bosque, P. J. and S. B. Prusiner (2000). ³Cultured cell sublines highly susceptible to prion infection.² Journal Of Virology. 74(9): 4377-4386. Brandner, S., M. A. Klein, et al. (2000). ³Mechanisms of neuroinvasion by prions: molecular principles and present status of research.² Schweizerische Medizinische Wochenschrift. 130(12): 435-442. Brown, W. M. and L. G. Skoglund (1999). ³High plains disease: virus, prion or extra-terrestrial? A review of a new disease.² Zeitschrift Fur Pflanzenkrankheiten Und Pflanzenschutz Journal Of Plant Diseases And Protection. 106(6): 660-663. Brown, K. L., K. Stewart, et al. (1999). ³Scrapie replication in lymphoid tissues depends on prion protein-expressing follicular dendritic cells.² Nature Medicine. 5(11): 1308-1312. Brown, D. R., B. S. Wong, et al. (2000). ³Normal prion protein has an activity like that of superoxide dismutase (vol 344, pg 1, 1999).² Biochemical Journal. 3: 767. Brown, D. R. (2000). ³Prion protein peptides: Optimal toxicity and peptide blockade of toxicity.² Molecular And Cellular Neuroscience. 15(1): 66-78. Brown, D. R., F. Hafiz, et al. (2000). ³Consequences of manganese replacement of copper for prion protein function and proteinase resistance.² Embo Journal. 19(6): 1180-1186. Brown, P., E. H. Rau, et al. (2000). ³New studies on the heat resistance of hamster-adapted scrapie agent: Threshold survival after ashing at 600 degrees C suggests an inorganic template of replication.² Proceedings Of The National Academy Of Sciences Of The United States Of America. 97(7): 3418-3421. Brown, D. R., N. K. Iordanova, et al. (2000). ³Functional and structural differences between the prion protein from two alleles prnp(a) and prnp(b) of mouse.² European Journal Of Biochemistry. 267(8): 2452-2459. Brown, K. L., D. L. Ritchie, et al. (2000). ³Detection of PrP in extraneural tissues.² Microscopy Research And Technique. Jul 50(1): 40-45. Bruce, M. E. (2000). ³'New variant' Creutzfeldt-Jakob disease and bovine spongiform encephalopathy.² Nature Medicine. 6(3): 258-259. Bryce, E. A., K. Dorovoni Zis, et al. (2000). ³Creutzfeldt-Jakob disease: Management of accidental contamination of neurosurgical instruments, pathology equipment, and solutions.² Infection Control And Hospital Epidemiology. 21(4): 247-248. Bugiani, O., G. Giaccone, et al. (2000). ³Neuropathology of Gerstmann-Straussler-Scheinker disease.² Microscopy Research And Technique. Jul 50(1): 10-15. Calzolai, L., D. A. Lysek, et al. (2000). ³NMR structures of three single-residue variants of the human prion protein.² Proceedings Of The National Academy Of Sciences Of The United States Of America. Jul 97(15): 8340-8345. Capellari, S., S. I. A. Zaidi, et al. (2000). ³Prion protein glycosylation is sensitive to redox change (vol 274, pg 34846, 1999).² Journal Of Biological Chemistry. 275(15): 11538. Casanova, B., M. de Entrambasaguas, et al. (1996). ³Lithium-induced Creutzfeldt-Jakob Syndrome.² Clinical Neuropharmacology. 1996 ; Vol 19(4): 356-359. Caselli, R. J. (2000). ³Focal and asymmetric cortical degenerative syndromes.² Corticobasal Degeneration And Related Disorders 82: 35-51. Caskie, P., J. Davis, et al. (1999). ³The economic impact of BSE: a regional perspective.² Applied Economics. 31(12): 1623-1630. Caughey, B. (2000). ³Transmissible spongiform encephalopathies, amyloidoses and yeast prions: Common threads?² Nature Medicine. Jul 6(7): 751-754. Chapman, J., L. Cervenakova, et al. (1998). ³APOE in non-Alzheimer amyloidoses: Transmissible spongiform encephalopathies.² Neurology. 1998 ; Vol 51(2): 548-553. Chernoff, Y. O., A. P. Galkin, et al. (2000). ³Evolutionary conservation of prion-forming abilities of the yeast Sup35 protein.² Molecular Microbiology. 35(4): 865-876. Chiesa, R. and D. A. Harris (2000). ³Nerve growth factor-induced differentiation does not alter the biochemical properties of a mutant prion protein expressed in PC12 cells.² Journal Of Neurochemistry. Jul 75(1): 72-80. Clive, C. and S. J. Haswell (2000). ³Functional and structural differences between the prion protein from two alleles prnp(a) and prnp(b) of mouse. (vol 267, pg 2452, 2000).² European Journal Of Biochemistry. Jun 267(12): 3915. Cochereau, I. (1999). ³Disinfection of non invasive medical devices against prions.² Journal Francais D Ophtalmologie. 22(10): 1084-1089. Cockcroft, P. D. (2000). ³Clinical sign profile likelihood ratios for bovine spongiform encephalopathy suspects.² Research In Veterinary Science. Jun 68(3): 285-290. Coghlan, A. (2000). ³Reservoir sheep - Did BSE start in sheep, and could it still be lurking there?² New Scientist. Jul 167(2249): 20. Cohen, F. E. (2000). ³Prions, peptides and protein misfolding.² Molecular Medicine Today. Jul 6(7): 292-293. Cohn, D. A., D. S. Crimmins, et al. (2000). ³Creutzfeldt-Jakob disease: the need for vigilance.² Journal Of Clinical Neuroscience. Jul 7(4): 277-279. Colgan, S., N. Shilton, et al. (2000). ³Production of single species derived meat and bone meal - The development of laboratory-scale rendering (LSR) technique.² Fleischwirtschaft 80(4): 133-135. Collier, A. P., C. J. D. Hetherington, et al. (2000). ³Alignment mechanisms between particles in crystalline aggregates.² Journal Of Crystal Growth. 208(1-4): 513-519. Collins, S., A. Boyd, et al. 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74. Rare Diseases List - Office Of Rare Diseases
Pallister mosaic syndrome. Isochromosome 12p syndrome. TeschlerNicolaand Killian syndrome. Tetrasomy 12p. Disease Information. PubMed
http://ord.aspensys.com/diseaseinfo.asp?ID=8421

75. Directory :: Look.com
Pallister Killian Mosaic syndrome (3) See Also. Sites. NORD Pallister Killian Mosaicsyndrome Offers the synonyms, a general discussion and further resources.
http://www.look.com/searchroute/directorysearch.asp?p=553124

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77. RARE DISEASES
OTHER NAMES Chromosome 12, Isochromosome 12p Mosaicism Killian syndrome Killian/TeschlerNicolasyndrome Pallister Mosaic syndrome Pallister Mosaic syndrome
http://www.kovaidoctors.com/diseases/p/p4.php
Pallister-Killian Mosaic Syndrome Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason.
OTHER NAMES
Chromosome 12, Isochromosome 12p Mosaicism
Killian Syndrome
Killian/Teschler-Nicola Syndrome
Pallister Mosaic Syndrome
Pallister Mosaic Syndrome Tetrasomy 12p
Teschler-Nicola/Killian Syndrome please click on the following Symptoms
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Patients with Pallister-Killian Mosaic Syndrome typically have low muscle tone at birth, sparse scalp hair, a high forehead, a coarse face, an abnormally wide space between the eyes, a broad nasal bridge, a highly arched palate, a fold of the skin over the inner corner of the eyes, and large ears with lobes that are thick and protrude outward. Other features frequently found in patients with this disorder may include: streaks of skin in which there is no color (hypopigmentation), extra nipples, seizures, droopy upper eyelids, crossed eyes (strabismus), joints that will not move (contractures), and delays in perceiving, recognizing, judging, sensing, reasoning or imagining (cognitive delays).

78. Explore Pallister Killian Mosaic Syndrome With Whizseek.net
WhizSeek.net Pallister Killian Mosaic syndrome Results. Top Health Conditionsand Diseases Genetic Disorders Pallister Killian Mosaic syndrome (3).
http://www.whizseek.net/explorer.cgi/Health/Conditions_and_Diseases/Genetic_Diso
WhizSeek.net - Pallister Killian Mosaic Syndrome Results.
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80. Congenital Malformations
PraderWilli syndrome; - Cohen's syndrome; - Killian-Teschler-Nicolasyndrome (Pallister mosaic syndrome, tetrasomy 12p); - Zellweger's
http://www.pathbase.com/xx_dev_malformations.htm
Malformations (Malformations) Definition: They are due to primary anomalies of the morphogenesis of organs. They differ from congenital deformations and congenital dysruptions. Classification according to the localization
  • Systemic malformations (Sequences - Associations) Monotopic developmental field defects - Localized malformations - Sirenomelia Polytopic developmental field defects - Microtia-auriculo-facio-vertebral syndrome (Goldenhar syndrome) - Di George sequence Disruptions - 1. Radiation disruption - 2. Teratogenic disruption Retinoid acid embryopathy (Accutane embryopathy, Fetal retinoid acid syndrome) Thalidomide Warfarin (Featl warfarin syndrome, warfarin embryopathy) Isotretinoin (Accutane) Alcohol (Fetal alcohol syndrome) Diphenylhydantoin (Fetal hydantoin syndrome) Trimethadione (Fetal trimethadione syndrome, tridione syndrome) Fetal valproate syndrome Aminopterin (Fetal aminopterin syndrome) Fetal methyl mercury syndrome Fetal iodine deficiency syndrome (Endemic cretinism) Cocain Chorionic villous sampling - 3. Metabolic disruptions

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