21. Medicalseek - Search Engine For The Healthcare Industry Nail Patella Syndrome Category Noonan Syndrome Category Opitz Syndrome CategoryOrganizations Category pallister killian mosaic syndrome Category Pallister http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders.html

CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Conditions and Diseases Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. drgreene.com/html/21614.html Gene Clinics Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. geneclinics.org Genetic Disorders: The Links to Diet Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy and homocystinuria and cystic fibrosis. mindspring.com/~sandysimmons/genetic_di... Genetic and Rare Conditions Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. kumc.edu/gec/support/

22. Electricbrain Home: Index: Health: Conditions And Diseases: Genetic Disorders Lemli Opitz Syndrome SmithMagenis Syndrome Shwachman Syndrome Proteus SyndromePopliteal Pterygium Syndrome pallister killian mosaic syndrome Pallister-Hall http://www.electricbrain.com/index/Health/Conditions_and_Diseases/Genetic_Disord

electricbrain Index Health Conditions and Diseases : Genetic Disorders home index write privacy ... Noonan Syndrome Famous quotes: The attacker must vanquish; the defender need only survive. Find someone: Old Friends New Friends Lost Love New Love ... privacy

23. Pallister Killian Mosaic Syndrome Syndrome Prune Belly Syndrome Pseudoxanthoma Elasticum. Pallister KillianMosaic Syndrome Pediatric Database http//www.icondata.com http://www.medlina.com/pallister_killian_mosaic_syndrome.htm

Academic Medicine Addiction Aging AIDS-HIV ... Women's Health The Web MEDLINA.com (partial) CDC WHO FDA NIH CATEGORIES Search: All Products Books Magazines Popular Music Classical Music Video DVD Baby Electronics Software Outdoor Living Wireless Phones Keywords: Home Up Pallister-Hall Syndrome Pallister Killian Mosaic Syndrome Parry-Romberg Syndrome Pickwickian Disease Pierre Robin Syndrome Prader-Willi Syndrome ... Pseudoxanthoma Elasticum Pallister Killian Mosaic Syndrome Pediatric Database - http://www.icondata.com A definition of Pallister-Killian syndrome, the epidemiology, pathogenesis, clinical features, investigations and management. National Library of Medicine - http://www.nlm.nih.gov The synonyms of Killian syndrome, a summary and a list of major features. SUBCATEGORIES Up powered by A merica M edica, I nc. info@medlina.com New York City

24. Conditions And Diseases: P | Treasure Coast Health T / U / V / W / X / Y / Z. Pain@ (45); pallister killian mosaic syndrome@(3); PallisterHall Syndrome@ (4); Pancreatic Cancer@ (31); http://treasurecoasthealth.com/treasurecoasthealth.php/Health/Conditions_and_Dis

Find Doctors on the Treasure Coast Select Specialty Ambulatory Care Anesthesiology Cardiology Dermatology Emergency Medicine Endocrinology Family Practice Gastroenterology Hematology/Oncology Infectious Diseases Internal Medicine Maxillofacial Surgery Neonatology Nephroology Neurology Neurosurgery Obstetrics/Gynecology Ophthalmology Orthopedic Surgery Otolaryngology Pathology Pediatics Physical Medicine Plastic Surgery Podiatry Psychiatry Psychology Pulmonary Radiation Oncology Radiology Rheumatology Surgery Thoracic Surgery Urology Vascular Surgery Select City Sebastian Palm Bay Vero Beach Fort Pierce Okeechobee Port St. Lucie Jensen Beach Stuart Palm City Hobe Sound Loxahatchee MENU Home Doctor Directory Health Resources Women Only ... About Us Conditions and Diseases: P Pain Pallister Killian Mosaic Syndrome Pallister-Hall Syndrome Pancreatic Cancer ... Pyromania Our Sponsers Home Doctors by Specialty Doctors by City Health Resources ... Contact Webmaster We subscribe to the HONcode principles Verify here.

25. Conditions And Diseases: Rare Disorders | Treasure Coast Health Ollier Disease (3); Opitz Syndrome@ (5); Osteogenesis Imperfecta@(6); pallister killian mosaic syndrome@ (3); PallisterHall Syndrome http://treasurecoasthealth.com/treasurecoasthealth.php/Health/Conditions_and_Dis

Find Doctors on the Treasure Coast Select Specialty Ambulatory Care Anesthesiology Cardiology Dermatology Emergency Medicine Endocrinology Family Practice Gastroenterology Hematology/Oncology Infectious Diseases Internal Medicine Maxillofacial Surgery Neonatology Nephroology Neurology Neurosurgery Obstetrics/Gynecology Ophthalmology Orthopedic Surgery Otolaryngology Pathology Pediatics Physical Medicine Plastic Surgery Podiatry Psychiatry Psychology Pulmonary Radiation Oncology Radiology Rheumatology Surgery Thoracic Surgery Urology Vascular Surgery Select City Sebastian Palm Bay Vero Beach Fort Pierce Okeechobee Port St. Lucie Jensen Beach Stuart Palm City Hobe Sound Loxahatchee MENU Home Doctor Directory Health Resources Women Only ... About Us Conditions and Diseases: Rare Disorders Aarskog Syndrome Aase Syndrome Abetalipoproteinemia Ablepharon-Macrostomia Syndrome ... Zollinger-Ellison Syndrome See also: Health: Conditions and Diseases: Genetic Disorders This category in other languages: Italian http://www.nutrisystem.com We have helped millions of people lose weight for more than 30 years. Lose up to 10 lbs. in your first month! National Organization for Rare Disorders, Inc.

26. NORD Rare Disease - Medical Transcription At Medword P Pachydermoperiostosis Paget's Disease Paget's Disease of the Breast Pallister HallSyndrome pallister killian mosaic syndrome Pallister W Syndrome Pancreatic http://www.medword.com/rardisP.html

For Transcriptionists - By Transcriptionists Home Books Business Courses ... Search Medword Resources NORD Rare Disease P This listing of rare diseases is provided for spelling reference. Clicking on the link will generate a new window and take you to NORD's home page, where you may search for an abstract of the disease or order a full text report of the disease. Please read the notice at the bottom of this page before using this list. A B C D ... Z Find on this page P Pachydermoperiostosis Paget's Disease Paget's Disease of the Breast Pallister Hall Syndrome ... Pyruvate Kinase Deficiency Please Click HERE for a comma-delimited list of the rare diseases that you may add to your speller. List made available by express written permission of NORD - National Organization for Rare Disorders, Inc. Print This Page Important: Please use the above list at your own risk. While we make every effort to ensure accuracy, we cannot be held responsible for errors in spelling or capitalization, or any circumstance that may result because of said error. In using the above list you also agree to never hold ANSO Consulting Inc. or Medword Medical Transcription responsible for any errors should they exist. Please Note: Medword's Lists of Medical Books Book Lists Menu Abbreviations Administration Atlases ... "Incredibly Easy" Medical Books

27. Genetic Disorders Noonan Syndrome; Opitz Syndrome; Organizations; PallisterHall Syndrome;pallister killian mosaic syndrome; Personal Pages; Popliteal http://www.ad.com/Health/Conditions_and_Diseases/Genetic_Disorders/

search Top Categories: Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. Category: Health > Conditions and Diseases > Genetic Disorders http://www.drgreene.com/html/21614.html Gene Clinics Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. Category: Health > Conditions and Diseases > Genetic Disorders http://www.geneclinics.org/ Genetic and Rare Conditions Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. Category: Health > Conditions and Diseases > Genetic Disorders http://www.kumc.edu/gec/support/ Genetic Disorders: The Links to Diet Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy and homocystinuria and cystic fibrosis. Category: Health > Conditions and Diseases > Genetic Disorders http://www.mindspring.com/~sandysimmons/genetic_disorders.html

28. P P. Top Health Conditions_and_Diseases P Categories PCC Deficiency; @ POEMSSyndrome; @ Pain; @ PallisterHall Syndrome; @ pallister killian mosaic syndrome; http://www.ad.com/Health/Conditions_and_Diseases/P/

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29. NEWS.TERADEX.COM - Health/Fitness/Diseases/Genetic Disorders BeckwithWiedemann Syndrome, Pallister-Hall Syndrome, Coffin Lowry Syndrome,pallister killian mosaic syndrome, Costello Syndrome, Personal Pages, http://news.teradex.com/Health_Fitness/Diseases/Genetic_Disorders/

preloadImages('as_free_x-mail','','as_ad-space'); Add your Web Site Add Search to your Site Search: Current Group Entire Site Results per page: Output format: Long Short URL Match: All Any Boolean Aarskog Syndrome Aase Syndrome Meckel-Gruber Syndrome Ablepharon-Macrostomia Syndrome ... Genetic Disorders Page 1 of 1 Add News Release News Headline Company Added ... News Release Submissions Activated Submit News Release! Sign Up User Name: Password: Administrative Approval Required E-Mail: webmaster@teradex.com Aaex Corp.

30. Browsing Health Conditions And Diseases P Category Pain pallister killian mosaic syndrome PallisterHall Syndrome Pancreatic CancerPancreatitis Panic Papillotonic Psuedotabes Parasitic Infections Paresthesia http://www.uksprite.com/search/search/Health/Conditions_and_Diseases/P/

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31. Open Classes's $p->page_title Svenska Open Directory Health Conditions and Diseases GeneticDisorders pallister killian mosaic syndrome Previous Catagory. http://dodo101.ath.cx/expat/odp.php/Health/Conditions_and_Diseases/Genetic_Disor

Open Directory Edit Add URL Update URL Description ... Svenska Open Directory - Health: Conditions and Diseases: Genetic Disorders: Pallister Killian Mosaic Syndrome [ Previous Catagory See also: Health: Conditions and Diseases: Rare Disorders Open Directory - Health: Conditions and Diseases: Genetic Disorders: Pallister Killian Mosaic Syndrome [ Previous Catagory National Library of Medicine - The synonyms of Killian syndrome, a summary and a list of major features. NORD - Pallister Killian Mosaic Syndrome - Offers the synonyms, a general discussion and further resources. Pediatric Database - A definition of Pallister-Killian syndrome, the epidemiology, pathogenesis, clinical features, investigations and management. Pallister Killian Mosaic Syndrome " search on: All the Web AltaVista Deja Google ... Yahoo Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

32. Katalog :  : Health : Conditions_and_Diseases : Genetic_Disorders :  - N Neurofibromatosis (*); NiemannPick (*); Noonan Syndrome; Opitz Syndrome;Osteogenesis Imperfecta (*); pallister killian mosaic syndrome; Pallister http://www.netz-tipp.de/kat/Health/Conditions_and_Diseases/Genetic_Disorders/

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33. Open Directory - Health: Conditions And Diseases: P T U V W X Y Z Pain@ (46); pallister killian mosaic syndrome@(3); PallisterHall Syndrome@ (6); Pancreatic Cancer@ (32); http://www.mptdo.com/Health/Conditions_and_Diseases/P/

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34. Health Library - Pallister Killian Mosaic Syndrome Your Health. Search. pallister killian mosaic syndrome. PallisterKillian MosaicSyndrome is a rare chromosomal disorder that occurs for no apparent reason. http://yourhealth.stlukesonline.org/Library/HealthGuide/IllnessConditions/topic.

35. Chromosome 12, 13, 14 Disorders Tetrasomy 12p Mosaicism Definition of pallister killian mosaic syndrome,from the National Organization for Rare Disorders. Trisomy http://rarediseases.about.com/cs/chromosome121314/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Chromosome 12, 13, 14 disorders Guide picks Links to information and resources for disorders associated with Chromomosomes 12, 13, or 14. Chromosome Deletion Outreach Provides a comprehensive introduction, with illustrations, to chromosome abnormalities. Chromosomal Disorders Forum Forum hosted by Rare Genetic Diseases in Children at New York University. Rare "Rare" Trisomy Disorder Messageboard Especially welcomes those with very rare disorders. Tetrasomy 12p- Mosaicism Definition of Pallister Killian Mosaic Syndrome, from the National Organization for Rare Disorders. Trisomy 13 Facts Facts from the Support Organization For Trisomy 18, 13, and Related Disorders (S.O.F.T.). Trisomy 14 Messageboard A bulletin board for patients, family, and friends.

36. Pallister-Killian Mosaic Syndrome You've just entered. pallisterkillian syndrome Home Page. an orientation site. http://www.pk-syndrome.org/

You've just entered Pallister-Killian Syndrome Home Page an orientation site The reasons for this site Useful Links A cosa serve questo sito PKS Description ... Punto di Incontro To contact us / per contattarci mailto: andrea@pk-syndrome.org Last update 03 February 2003

37. Pallister-Killian Mosaic Syndrome - Description to the NORD (National Organization for Rare Disorders) pallisterkillian MosaicSyndrome is a rare chromosomal disorder that occurs for no apparent reason. http://www.pk-syndrome.org/pks_desc_e.htm

Pallister-Killian Syndrome DESCRIPTION Pallister-Killian Syndrome can also be found with the following Synonyms: Chromosome 12, Isochromosome 12p Mosaic Killian Syndrome Killian/Teschler-Nicola Syndrome Pallister Mosaic Syndrome Pallister Mosaic Syndrome Tetrasomy 12p According to the NORD (National Organization for Rare Disorders) Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present. SYMPTOMS: Patients with Pallister-Killian Mosaic Syndrome typically have low muscle tone at birth, sparse scalp hair at birth, 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 at birth, droopy upper eyelids, crossed eyes (strabismus), joints that will not move (contractures), and delays in perceiving, recognizing, judging, sensing, reasoning or imagining (cognitive delays).

38. PALLISTER-KILLIAN MOSAIC SYNDROME A definition of pallister-killian syndrome, the epidemiology, pathogenesis, clinical features, investigat Category Health Conditions and Diseases......Pediatric Database (PEDBASE); Discipline GEN; Last Updated 4/17/97pallisterkillian mosaic syndrome. DEFINITION A congenital disorder http://www.icondata.com/health/pedbase/files/PALLISTE.HTM

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 4/17/97 PALLISTER-KILLIAN MOSAIC SYNDROME DEFINITION: A congenital disorder caused by chromosome 12p tetrasomy in affected cells resulting in distinct craniofacial features and neurological manifestations. EPIDEMIOLOGY: incidence: rare, over 30 cases reported age of onset: birth risk factors: sporadic M = F PATHOGENESIS: 1. Background also called Killian/Teschler-Nicola Syndrome, Pallister Mosaic Syndrome, Tetrasomy 12p, Killian Syndrome, Teschler-Nicola/ Killian Syndrome the phenotypic features are due to the presence of four copies of chromosome 12p in affected cells the presence of the isochromosome 12p gives 4 copies of chromosome 12p in the affected cells CLINICAL FEATURES: 1. Neurological Manifestations profound hypotonia at birth which persists seizures usually beginning in infancy developmental delay hypotonia with joint contractures developing between 5-10 years of age minimal speech development mental retardation (usually profound) sensorineuronal hearing loss 2. Craniofacial Features

39. Pallister-Killian Mosaic Syndrome - Description Web site dedicated to the pallisterkillian syndrome, a meeting point, a collection of link and useful information, Il sito raccoglie materiale utile per le famiglie con persone affette dalla sindrome di pallister-killian. Isochromosome 12p mosaic. Sindrome di killian. Sindrome di killian/Teschler-Nicola. Sindrome a mosaico di pallister To contact us / per contattarci. andrea@pk-syndrome.org http://www.mclink.it/personal/MC6746/pks_desc_i.htm

Sindrome di Pallister-Killian DESCRZIONE La sindrome di Pallister-Killian può assumere anche i seguenti sinonimi: Chromosome 12, Isochromosome 12p Mosaic Sindrome di Killian Sindrome di Killian/Teschler-Nicola Sindrome a Mosaico di Pallister Tetrasomia 12p Per altri sinonimi ci si riferisca alle pagine in Inglese su questo stesso sito Citando il NORD (National Organization for Rare Disorders) ed il PedBase (Pediatric Database): la sindrome a Mosaico di Pallister-Killian è una rara anomalia cromosomica di cui non si conosce ancora la causa. SINTOMI: I sintomi principali possono comprendere un viso rozzo con una fronte alta, capelli radi, ampia distanza tra gli occhi, una piega della pelle agli angoli degli occhi, un ampio ponte nasale, un'ampia arcata del palato, ritardo mentale, scarso tono muscolare (ipotonia), striature di pigmentazione alterata sulla pelle, strabismo, ipoacusia, convulsioni (in particolare alla nascita), contrattura delle articolazioni, ritardi cognitivi. Sono stati anche riscontrati casi di ernia del diaframma, difetti congeniti al cuore ed ai polmoni. CAUSE: La sindrome di Pallister-Killian è causata dalla tetrasomia del cromosoma 12p. Sono stati riscontrati quattro copie del braccio corto del cromosoma 12 invece delle normali due. Tutti i casi riscontrati sono stati ritenuti "Sporadici", ovvero non si ritiene ci sia ereditarietà.

40. Pallister-Killian Mosaic Syndrome - Phil's Story Web site dedicated to the pallisterkillian syndrome, a meeting point, a collection of link and useful information, Il sito raccoglie materiale utile per le famiglie con persone affette dalla sindrome di pallister-killian. an amniocentesis but the syndrome didn't show up. also known as pallister-killian syndrome. The syndrome is relatively http://www.pk-syndrome.org/Phil.htm

Pallister-Killian Syndrome Phil's story - by Andrea Colasanti (andrea@pk-syndrome.org) Filippo (Phil) Colasanti was born in Rome, ITALY, on 7th September 1996 after 39 weeks of pregnancy. His weight at birth was 3,750 Kg. His mother suffered from polyhydramnios probably caused by PKS. She also had an amniocentesis but the syndrome didn't show up. He suffered from breathing problems (distress) and he was in the Neonatal Intensive Care nursery for 4 weeks. He had low muscle tone at birth, sparse scalp hair, a high forehead , a wide space between the eyes, a broad nasal bridge and hypopigmentation (streaks of skin in which there is no colour). I will never forget many of the sensations I had during the first days of Phil's life. The first time I saw him with tubes and wires, the long time he spent in the hospital (4 weeks) with the daily visits taking hundreds of kilometres. The vague explanation that doctors gave us. We are Italians and we live in Rome. We didn't receive very good support from the Italian medical system at the beginning and we wasted a lot of time in finding the right specialists. PKS is still quite unknown in Italy. At the beginning we wasted a lot of time and money with doctors asserting the strangest hypothesis like the percentage of iron in his blood. One doctor told us that the child was almost perfect, another one told us that he was in terrible conditions. We were really confused and sad.

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