Pallister's Mosaicism Syndrome (www.whonamedit.com) KillianPallister syndrome teschler-nicola syndrome Pallister s syndrome Pallister-Killian syndrome Pallister-Teschler-Nicola and Killian syndrome http://www.whonamedit.com/synd.cfm/1868.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. 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.
Www.whonamedit.com TeschlerNicola and Killian-Pallister syndrome teschler-nicola syndrome Teschler-Nicola s syndrome Thaysens syndrome http://www.whonamedit.com/azeponyms.cfm/T.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.
Entrez PubMed Killianteschler-nicola syndrome. Ohman AB Jr, Pride HB, Papa CA. Department ofPediatrics, Geisinger Medical Center, Penn State Geisinger Health Systems, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
Entrez PubMed Killianteschler-nicola syndrome (Pallister-Killian syndrome, mosaic tetrasomy12p) Article in German Pankau R, Diebold U, Jenderny J, Kautza M, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
Webkatalog yeiii weisheits z hne prollkin Sie sind hier Startseite Fit Gesund Webkatalog. Pallister Killian Mosaic Syndrome Websites http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12 instead of the normal two. 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.
Pallister-Killian Mosaic Syndrome Web site dedicated to the PallisterKillian syndrome, a meeting point, a collection of link and useful information, Il sito raccoglie materiale utile http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Index Kikuchi s Histiocytic Necrotizing Lymphadenitis KikuchiFujimoto Disease Killian Syndrome Killian/teschler-nicola syndrome Kinky Hair Disease http://my.webmd.com/hw/index/index-topics-K.asp
Pallister-Killian Mosaic Syndrome - Description PATHOGENESIS Also called Killian/teschlernicola syndrome, Pallister MosaicSyndrome, Tetrasomy 12p, Killian Syndrome, Teschler-Nicola/ Killian Syndrome http://www.pk-syndrome.org/pks_desc_e.htm
Extractions: DESCRIPTION Pallister-Killian Syndrome can also be found with the following 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).
WebMD With AOL Health - Pallister Killian Mosaic Syndrome Pallister Killian Mosaic Syndrome is a rare chromosomal disorder caused by thepresence of Killian/teschler-nicola syndrome; Pallister Mosaic Syndrome http://aolsvc.health.webmd.aol.com/hw/raising_a_family/nord512.asp
Extractions: Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12 instead of the normal two. 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.
Pallister Killian Mosaic Syndrome PallisterKillian Mosaic Syndrome is a rare chromosomal disorder caused by thepresence of Killian/teschler-nicola syndrome; Pallister Mosaic Syndrome http://www.bchealthguide.org/kbase/nord/nord512.htm
Extractions: It is possible that the main title of the report Pallister Killian Mosaic Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12 instead of the normal two. 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 Arc (a national organization on mental retardation)
Pallister Killian Mosaic Syndrome subdivision(s) covered by this report. Synonyms. Chromosome 12, Isochromosome12p Mosaic; Killian Syndrome; Killian/teschlernicola syndrome; http://www.peacehealth.org/kbase/nord/nord512.htm
Extractions: It is possible that the main title of the report Pallister Killian Mosaic Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12 instead of the normal two. 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 Arc (a national organization on mental retardation)
