61. GREENSEEK features. » NORD pallister killian mosaic syndrome Offers the synonyms, a general discussion and further resources. » Pediatric http://www.greenseek.de/internet/index.php/Health/Conditions_and_Diseases/Geneti

SEITE ANMELDEN NEUZUGÄNGE IM KATALOG FORUM UND COMMUNITY WETTERBERICHTE ... WEBDESIGN-VORLAGEN an abmelden im Katalog deutschem Web gesamten Web internationaler Katalog KATALOG Health See also: Health: Conditions and Diseases: Rare Disorders 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. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The content of this directory is based on the Open Directory Powered by GREENSEEK

62. Lukol Directory - Health Conditions And Diseases Rare Disorders Osteogenesis Imperfecta (14). PallisterHall Syndrome (4). pallister killian mosaic syndrome (3). Pemphigoid (1). Pemphigus (5). Phenylketonuria (6). http://www.lukol.com/Top/Health/Conditions_and_Diseases/Rare_Disorders/

Lukol Directory - Health Conditions and Diseases Rare Disorders ... National Organization for Rare Disorders, Inc. Information about NORD, its programs, special events and the variety of services offered. Includes a rare disease, organization and orphan drug database. Diseases are listed alphabetically for easy searching. http://www.rarediseases.org/ Human Growth Foundation Information about growth-related disorders through education, research, and advocacy. Member driven organization. http://www.hgfound.org/ Contact a Family Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK. http://www.cafamily.org.uk Tetrahydrobiopterin Information on structure, biosynthesis and pathophysiology of BH4 and tetrahydrobiopterin deficiency. http://www.bh4.org Cherubs A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia. http://www.cherubs-cdh.org Office of Rare Diseases Information on more than 6000 rare diseases, including current research, publications from scientific and medical journals, completed research, ongoing studies, and patient support groups.

63. 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 09 April 2003

64. Pallister-Killian Syndrome / Family Village Search Google for "pallisterkillian syndrome" Where to Go to Chat with Others or other aspects of living with or taking care of those with pallister-killian mosaic syndrome http://www.familyvillage.wisc.edu/lib_pks.htm

Pallister-Killian Syndrome Where to Go to Chat with Others Learn More About It Web Sites Search Google for "Pallister-Killian Syndrome" Where to Go to Chat with Others PKS Support An international group for the sharing of information, experiences or other aspects of living with or taking care of those with Pallister-Killian Mosaic Syndrome. Learn More About It PKS Description Pallister-Killian Syndrome information from Ped Base Pallister-Killian Syndrome information from OMIM Pallister-Killian Syndrome Web Sites Pallister-Killian Syndrome Home Page Pallister-Killian Syndrome - The Contact a Family Directory Chromosome Deletion Outreach Back to [ O - P Family Village Home Library Coffee Shop ... Information Last Updated 7/8/2003 by familyvillage@waisman.wisc.edu Document Source: http://www.familyvillage.wisc.edu/lib_pks.htm

65. Pallister-Killian Mosaic Syndrome - Description to the NORD (National Organization for Rare Disorders) pallisterkillian mosaic syndrome 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).

66. Chromosome 12p Tetrasomy Syndrome syndrome. chromosome 12p syndrome. Synonyms. killian syndrome. pallister mosaic aneuploidy. pallister mosaic syndrome. pallisterkillian syndrome. Teschler-Nicola and killian syndrome http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome166.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome chromosome 12p tetrasomy syndrome Synonyms Killian syndrome Pallister mosaic aneuploidy Pallister mosaic syndrome Pallister-Killian syndrome Teschler-Nicola and Killian syndrome 12p mosaic tetrasomy 12p tetrasomy isochromosome 12p syndrome mosaic tetrasomy 12p tetrasomy 12p Summary Tetrasomy of the short arm of chromosome 12 associated with craniofacial abnormalities with coarse facies, growth and mental deficiency, slow growing hair, and other abnormalities. The adult phenotype is marked mainly by epilepsy, macroglossia, coarse facies, and severe mental retardation. Major Features Head and neck: High forehead and micrognathia. Ears: Malformed. Eyes: Strabismus, blepharoptosis, hypertelorism, and sparse eyebrows and eyelashes. Nose: Short nose with flat bridge, anteverted nostrils, epicanthal folds, and long philtrum. Mouth and oral structures: Downturned mouth, cupid-bow thin upper lip, protruding lower lip, macrostomia, and macroglossia. Dentition is usually delayed. Neck: Short neck. Short and webbed neck.

67. 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 pallister-killian syndrome. Phil's story - by Andrea Colasanti also known as pallister-killian syndrome. The syndrome is relatively "new about it makes it a complex syndrome to manage 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.

68. Health, Conditions And Diseases, Genetic Disorders: Pallister Killian Mosaic Syn pallisterkillian mosaic syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major symptoms may include http://www.combose.com/Health/Conditions_and_Diseases/Genetic_Disorders/Palliste

Top Health Conditions and Diseases Genetic Disorders ... Pallister Killian Mosaic Syndrome Related links of interest: Health:Conditions and Diseases:Rare Disorders NORD: Pallister Killian Mosaic Syndrome - Offers the synonyms, a general discussion and further resources. National Library of Medicine - The synonyms of Killian syndrome, a summary and a list of major features. Pediatric Database - A definition of Pallister-Killian syndrome, the epidemiology, pathogenesis, clinical features, investigations and management. 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. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The combose.com directory is based on the

69. Chromosome 12 Isochromosome 12p Mosaic,Killian Syndrome,Killian/Teschler-Nicola syndrome,pallister mosaic syndrome Tetrasomy 12p,TeschlerNicola/killian syndrome,pallister-killian mosaic syndrome,pallister mosaic Aneuploidy,Chromosome 12 http://www.icomm.ca/geneinfo/pallkill.htm

Chromosome 12 Isochromosome 12p Mosaic,Killian Syndrome,Killian/Teschler-Nicola Syndrome,Pallister Mosaic Syndrome,Pallister Mosaic Syndrome Tetrasomy 12p,Teschler-Nicola/Killian Syndrome,Pallister-Killian Mosaic Syndrome,Pallister Mosaic Aneuploidy,Chromosome 12 Isochromosome 12p Mosaic,Killian Syndrome,Killian/Teschler-Nicola Syndrome,Pallister Mosaic Syndrome,Pallister Mosaic Syndrome Tetrasomy 12p,Teschler-Nicola/Killian Syndrome,Pallister-Killian Mosaic Syndrome,Pallister Mosaic Aneuploidy For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Pallister-Killian (as defined by the National Organization for Rare Disorders also known as: Pallister-Killian Mosaic Syndrome Pallister Mosaic Aneuploidy Pallister Mosaic Syndrome Chromosome 12, Isochromosome 12p Mosaic Killian Syndrome Killian/Teschler-Nicola Syndrome Pallister Mosaic Syndrome Tetrasomy 12p Teschler-Nicola/Killian Syndrome (as defined by the National Organization for Rare Disorders Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason.

70. Pallister's Mosaicism Syndrome (www.whonamedit.com) chromosome 12. pallisterkillian mosaic syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major symptoms http://www.whonamedit.com/synd.cfm/1868.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Pallister's mosaicism syndrome Also known as: Killian’s syndrome Killian-Pallister syndrome Teschler-Nicola syndrome Pallister's syndrome Pallister's tetrasomy syndrome Pallister-Killian syndrome Pallister-Teschler-Nicola and Killian syndrome Teschler-Nicola's syndrome Teschler-Nicola and Killian syndrome Teschler-Nicola and Killian-Pallister syndrome Synonyms: Chromosome 12p tetrasomy syndrome, chromosome 12 mosaic tetrasomy, mosaic tetrasomy 12p, tetrasomy 12. Associated persons: Wolfgang Killian Philip David Pallister M. Teschler-Nicola Description: Tetrasomy of the short arm of chromosome 12. 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. The adult phenotype is marked mainly by epilepsy, macroglossia, coarse facies, and severe mental retardation.

71. TheFetus.net - Pallister Killian Syndrome -Fabrice Cuillier, M. Deshayes, J.F. C Individuals with pallisterkillian syndrome are often mosaic of isochromosom 12p, but in some case, the degree of mosaicism in the chorion villus sample is http://www.thefetus.net/page.php?id=1162

72. Entrez PubMed Collaborative study of mosaic tetrasomy 12p or pallisterkillian syndrome (nineteen fetuses or children). Mathieu M, Piussan C, Thepot http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9

73. OMIM - #601803 PALLISTER-KILLIAN SYNDROME; PKS 601803 pallisterkillian syndrome; PKS. Alternative titles; symbols. TETRASOMY 12p, mosaic ISOCHROMOSOME 12p syndrome. TEXT. A number http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=601803

74. Sindrome Pallister-killian Translate this page Buyse, ML, and Korf, BR killian syndrome, pallister mosaic syndrome, or mosaic tetrassomy 12p, Na analysis, J.Clin, Dismorph., I (3)2,1983. http://www.nicholas.yemal.nom.br/sindrome/sindrome.htm

Síndrome de Pallister-Killian - PKS Teschler Nicola e Killian descreveram uma paciente com 3 anos de idade com esse distúrbio, em 1981. Um segundo caso foi relatado por Schroer e Stevenson, em 1983. Subsequentemente foi reconhecido que dois adultos com um fenótipo similar e mosaicismo para um cromossomo marcados descrito por Pallister et al., em 1976, apresentavam a mesma condição. Recentemente, a tetrassomia 12p, seja em mosaico ou total, foi documentada em fibroblastos da pele de indivíduos afetados, mas não no sangue periférico. ANORMALIDADES Crescimento . Estatura, peso e circunferência cefálica normais ou aumentados ao nascimento com desaceleração do crescimento pós-natal da estatura e da circunferência cefálica, Frequentemente há o desenvolvimento de obesidade. Desempenho . Deficiência mental profunda com desenvolvimento mínimo da linguagem. Convulsões. Hipotononia com desenvolvimento de contraturas com o avançar da idade. Surdez. Craniofaciais . Cabelos esparsos na região anterior, sobretudo nas regiões temporais na infância, com sombrancelhas e cílios ralos. Fronte proeminente. A face se torna mais grosseira no decorrer do tempo. Fissuras palpebrais direcionadas para cima. Hipertelorismo ocular. Ptose palpebral. Estrabismo. Epicanto. Base nasal larga e achatada e nariz curto com narinas antevertidas. bochechas rechonchudas. Filtro longo com lábio superior fino e formato de "arco de cupido". Lábio inferior protruso. Erupção dentária retardada. Orelhas largas com lóbulos espessos protrusos. Pescoço curto.

75. PALLISTER-KILLIAN SYNDROME K, Heyborne, KD, Porecco, RP (1993) Sonographic and Cytogenetic Aspects of the Prenatal Diagnosis of mosaic Tetrasomy 12p (pallisterkillian syndrome) A Case http://www.cpdx.com/cpdx/palliste.htm

Pallister-Killian Syndrome PRESENTATION Obstetrical patient presented for evaluation of fetal hydramnios, short limbs and sacral appendage at 32 weeks gestation FINDINGS Targeted ultrasound examination confirms fetal hydramnios, short limbs and sacral appendage. In addition, Dandy-Walker Malformation and diaphragmatic defect were revealed. MANAGEMENT Amniocentesis was performed. Karyotype showed 46,XY/47,XY + i(12p) identified by G-banded metaphases and FISH analysis. Tetrasomy was observed in 18 of 20 colonies. DIAGNOSIS Tetrasomy 12p is consistent with Pallister-Killian syndrome (PKS). OUTCOME Spontaneous vaginal delivery of male infant at 35 weeks 5 days. Infant was intubated. Diaphragmatic hernia was confirmed through X-ray, baby was extubated and expired shortly thereafter. DISCUSSION A review of the literature indicates that all Pallister-Killian fetuses with diaphragmatic defects die shortly after birth. Hydramnios, short limbs and diaphragmatic defects are common in PKS. Sacral appendage has been reported in association with PKS. Hydrocephalus is also reported in PKS. This case appears to be the first associated with Dandy-Walker malformation. The extra chromosome is often not found in peripheral lymphocytes and may be lost in cultured cell lines. If cordocentesis had been used to obtain tissue for cytogenetics in this case, as it often is in the third trimester, the extra chromosome confirming the diagnosis of PKS may not have been found. The clinical features of PKS resemble Fryns syndrome, an autosomal recessive condition, which may have been diagnosed in the absence of an accurate karyotype. When diaphragmatic defect in association with other anomalies is detected in late gestation, an amniotic fluid sample rather than fetal blood sample would enable exclusion or confirmation of PKS. Once a correct diagnosis is made, appropriate prognosis and recurrence risk counseling can be provided to the patient.

76. Karger Publishers External Resources 15 Quarrell OW, Hamill MA, Hughes HE pallisterkillian mosaic syndrome with emphasis on the adult phenotype. Am J Genet 1988;31841-844. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

77. PALLISTER-KILLIAN SYNDROME: Contact A Family - For Families With Disabled Childr pallisterkillian syndrome (PKS) is a very rare chromosomal condition. the other cells having a normal chromosome type, the condition is described as mosaic. http://www.cafamily.org.uk/Direct/p075.html

printer friendly PALLISTER-KILLIAN SYNDROME home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no PKS affects both males and females equally. The condition is present at birth and the oldest known individuals with PKS are in their forties. The major symptoms of PKS include a characteristic facial appearance, learning difficulties , seizures (see entry, epilepsy ), loss of muscle tone ( hypotonia ) and streaks of skin in which there is no colour (hypopigmentation) or darker skin colour than normal (hyperpigmentation) anywhere on the body. Individuals may show some or all of these features and, in addition, may be differently affected in the severity of their symptoms. Typically individuals with PKS have a high forehead, sparse hair on the temple region of the scalp and eyebrows, an abnormally wide space between the eyes, a fold of skin over the inner corner of the eyes and a flat nose. At birth infants with PKS are profoundly hypotonic (floppy) and this may persist into later life. Between the ages of 5 and 10 years, children may have stiffness of joints (contractures). Children are almost always developmentally delayed with learning difficulties and minimal speech. Seizures may occur during infancy. Difficulties with vision (see entry

78. Registered Disorders Chromosome Deletion Outreach, Inc. (CDO) Tetraploidy 2. partial tetrasomy 8p. mosaic Tetrasomy 8p 1. Tetrasomy 9p 1. Tetrasomy 12p pallister killian syndrome 2. Tetrasomy 18p 1. http://www.chromodisorder.org/disorder3.htm

About CDO Contact Us Join CDO Donate ... Volunteer Select a Page More about Chromosome Deletion Outreach Registered Chromosome Disorders CDO Family Stories Intro to Chromosome Abnormalities Ask the Doctor Library Resources Secure Application Form CDO Angels NICU Stories Guestbook Renewal Form FAQS Inspirational Chromosome Disorders Registered with Chromosome Deletion Outreach, Inc. Section 3 Last updated April 19 2004 CDO represents over 2000 families and professionals living in 34 countries Detailed information regarding the number of members affected with a particular disorder is now also shown below in brackets beside each listing. Please do consider joining us even if you don't see your child's disorder currently listed. Our membership is growing rapidly and if your child's disorder is listed here we are more likely to receive inquiries from other families. For a listing of our many contact persons, please click here *New Members January - March 2004 Please contact any CDO Board member using the electronic Feedback Form for more information Deletions Inversions Trisomies / Duplications Translocations ... Other Disorders RING OF CHROMOSOME: unknown [1] ring 1 mosaic [2] mosaic ring syndrome [1] mosaic ring 2 [1] ring 5 mosaic [1] mosaic 15 p11.2, q26 [1]

79. ORPHANET - Rare Diseases - Orphan Drugs pallisterkillian syndrome is a rare and sporadic multiple congenital anomaly/mental retardation syndrome characterized by the mosaic tissue-limited presence http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=884

80. Pallister-killian2001.html about PKS pallisterkillian mosaic syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major symptoms may http://www.indiana.edu/~pietsch/pallister-killian2001.html

Return to ShuffleBrain main menu Return to PKS menu Pallister-Killian Syndrome PKS the literature, 2000-2001 (October) web contact: pietsch@indiana.edu A literature search at Indiana University, Bloomington, Indiana The following MEDLINE items were compiled by SilverPlatter and are presented with their generous co-operation and permission. ( See SilverPlatter's Worldwide Library for bibliographic search information NORD , The National Organization of Rare Diseases, has the following to say about PKS 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. Record 1 of 7 in MEDLINE(R) on CD 2001/07-2001/09 TITLE: Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker. AUTHOR: Dufke,-A; Walczak,-C; Liehr,-T; Starke,-H; Trifonov,-V; Rubtsov,-N; Schoning,-M; Enders,-H; Eggermann,-T

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 4     61-80 of 93    Back | 1  | 2  | 3  | 4  | 5  | Next 20