Top Health Conditions And Diseases T Takatsuki Syndrome Talipes Tangier Disease TaySachs Disease Temporal LobectomyBehavior Syndrome Tendonitis teschler-nicola syndrome Testicular Cancer http://www.freeseek.org/Health/Conditions_and_Diseases/T
Dominion Web Directory : Health : Conditions_and_Diseases : T Syndrome@ (4); Tendonitis@ (9); teschlernicola syndrome@ (3); TesticularCancer@ (22); Thalasemmia@ (21); Thromboangiitis Obliterans http://directory.dominion-web.com/Top/Health/Conditions_and_Diseases/T
Pallister-Killian Syndrome can also be found with the following Synonyms Chromosome 12, Isochromosome 12pMosaic Killian Syndrome Killian/teschlernicola syndrome Pallister Mosaic http://www.duennaportal.co.uk/knowledgebase/articles/178.html
M. Teschler-Nicola (www.whonamedit.com) M. teschlernicola. Associated eponyms Pallister's mosaicism syndrome. A multiple anomaly/mental retardation Elisabeth Ruttkay and M. teschler-nicola Zwei Gräber der Badener-Kultur http://www.whonamedit.com/doctor.cfm/481.html
Extractions: 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.
Extractions: 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:
Extractions: 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.
Syndrome DB - Table Of Contents involvement Taybi syndrome Teebi syndrome telecanthushypospadias syndrome ter Haarsyndrome teschler-nicola and Killian syndrome testicular feminization (TFM http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_t.html
Extractions: Tetrasomy 12p Chromosome 12p tetrasomy syndrome: Definition(s) via UMLS Code translations and terms via UMLS Chromosome 12p tetrasomy syndrome: specific sites Send Chromosome 12p tetrasomy syndrome to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these:
Index - A To Z Âå¾Ç¹Ï®ÑÀ] - °ê»Ú«p¥Í°·±d¶é°Ï - 24Drs.com Terminal 7p Monosomy, Included nord Terminal 8p syndrome (8p21 to 8p23-pter),Included nord teschler-nicola/Killian syndrome nord Testicular Biopsy http://www.24drs.com/Health_Guide/health.asp?who=4115.21633
Sindrome Pallister-killian Translate this page Hall, BD teschler-nicola/Killian syndrome A sporadic case in na11 year old male. J. Clin. Dismorph., I (3)1, 1983. Schroer, RJ http://www.nicholas.yemal.nom.br/sindrome/sindrome.htm
Extractions: 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.
Malattie Rare E Genetiche Lettera "T" Translate this page Teratome dandy walker hernie diaphragmatique{} * teschler-nicola e KillianSindrome di teschler-nicola and Killian syndromeTeschler Nicola http://fmfpc.altervista.org/T.htm
Karger Publishers External Resources 12 Pagon RA teschlernicola/Killian syndrome. External Resources14 Lubinsky M A case report of teschler-nicola/Killian syndrome. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=
LEONA E.V. - Kontaktvermittlung Translate this page Skelettdysplasie Smith-Lemli-Opitz-Syndrom Smith-Magenis-Syndrom Spinale MuskelatrophieTyp I Tandemduplikation 13q21-pter teschler-nicola-Syndrom Tetrasomie http://www.leona-ev.de/kontaktvermittlung/syndrome.html
