MeB - Elettroniche - Giugno 2005 - Caso Contributivo Translate this page The Alagille sindrome (arteriohepatic dysplasia) J Med Genet. AlagilleSyndrome (arteriohepatic dysplasia) and del (20) (p11.2) Am J Med Genet. http://www.medicoebambino.com/elettroniche/archivio/volume.8/numero.6/CL0806_01.
Extractions: It is possible that the main title of the report Alagille 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. Alagille Syndrome is a genetic liver disorder usually present at birth. It is characterized by insufficient passage of bile due to a lower than normal number of bile ducts inside the liver. In some cases, the child may be born with no bile ducts. Major symptoms include prolonged yellow skin discoloration (jaundice), eye and heart structure anomalies, abnormally shaped vertebrae of the spine, compression of nerve space inside the lower spine, an absence of deep tendon reflexes, mental deficiency, facial and kidney (renal) abnormalities, shortened fingers, and pancreatic insufficiency. The Arc (a national organization on mental retardation)
Current Opinion In Cardiology - UserLogin Alagille syndrome (MIM 118450), also known as arteriohepatic dysplasia, is anautosomal del(20p) with manifestations of arteriohepatic dysplasia. http://www.co-cardiology.com/pt/re/cocardio/fulltext.00001573-200105000-00006.ht
Alagille Syndrome Alagille s syndrome, arteriohepatic dysplasia, syndromic paucity of interlobularbile ducts. Printable version. Alagille syndrome is an autosomal dominant, http://www.humpath.com/article.php3?id_article=111
Alagille Syndrome / The Family Village See also arteriohepatic dysplasia, WatsonAlagille Syndrome, Syndromic HepaticDuctular Hypoplasia, Syndromic Intrahepatic Biliary Hypoplasia, http://www.familyvillage.wisc.edu/lib_alag.htm
Extractions: See also: Arteriohepatic Dysplasia, Watson-Alagille Syndrome, Syndromic Hepatic Ductular Hypoplasia, Syndromic Intrahepatic Biliary Hypoplasia, Cholestasis with Peripheral Pulmonary Stenosis, Syndromic Bile Duct Paucity, Intrahepatic Biliary Artresia or Dysgenesis. ASA's mission is to provide information about Alagille syndrome, networking services, and a forum for exchange of experiences for families with the syndrome. They also disseminate information to all those interested in this rare liver disorder, and will refer families to others in the same geographical area. The Alliance publishes a quarterly newsletter, LiverLinks , and has a brochure and a fact sheet available that explain the syndrome and treatment that is available. ASA offers a new parent packet that includes, the newsletter, fact sheet, brochure, and an information form for referrals. ASA collects information on physicians and research being done and makes this information available to its members on a limited basis. They are in the process of developing a bibliography of articles and they have a scientific advisory board.
MUMS List Of Disorders - A ArnoldChiari Syndrome w/Down Syndrome (1); Arnold-Chiari Syndrome w/SpinaBifida (22) *; arteriohepatic dysplasia (AHD) (Alagille Syndrome) (12) http://www.netnet.net/mums/mum_a.htm
Extractions: indicates there is a support group which covers that diagnosis. 2 Hydroxic Gluteric Urea (1) 2 Keto Adepic Aciduria (1) 3 Hydroxy 3-Methylglutaryl CoAlyase Deficiency (HMG) (1) * 3 Methycrotonyl CoA Carboxylase Deficiency (3MCCC) (1) 3 Methylglutaconic Aciduria (4) 4 Hydroxybutyric Aciduria (1) 4A Syndrome(Adrenocortical Insufficiency, Alacrima, Achalasia,Autonomic)(1) 5 Alpha Reductase Deficiency (1) * 5 Oxoprolinuria (Pyroglutamic Aciduria) (1) 18 Hydroxylase Deficiency (Adrenal Hyperplasia) (1) 21 Hydroxylase Deficiency (Adrenal Hyperplasia) (18) ** ACTH Deficiency (1) AIDS (Acquired Immune Deficiency Syndrome) (6) ** Aarskog Syndrome (8) ** Abdominal Chylous Ascites (abdomen fills w/fluid) (4) Abdominal Migraines (2) Abdominal Teratoma Tumor (5) Abetalipoproteinemia (4) * Abetalipoproteinemia (Bassen-Kornzweig Syndrome) (1) * Absence of Arm Below Elbow, Congenital (25) * Absence of Arms (Severed in accident) (2) * Absence of Arms, Hands attached to shoulder (1) *
The EOPS Author Index - J 9148 Alagille s syndrome (arteriohepatic dysplasia) hepatocellular carcinomaassociated with the syndrome in a 4-year old girl; 92-39 Ophthalmic http://www.helsinki.fi/laak/silk/perus/EOPSAUTJ.html
Extractions: Boston, Massachusetts, U.S.A. Metastatic breast "colloid" carcinoma simulating a primary ciliary epithelial tumour Anaplastic carcinoma of the lacrimal gland presenting with recurrent subconjunctival hemorrhages and displaying incipient sebaceous differentiation Adult extra-renal rhabdoid tumor of the lacrimal gland Prepartum capillary hemangioma (pseudo-Kaposi sarcoma) arising in a nevus flammeus Guest Copenhagen, Denmark Pseudoepitheliomatous hyperplasia of the retinal pigment epithelium Gliomatosis of the retina with secondary involvement of the orbit (? astrocytoma) Glomus tumour (glomangioma) of eyelid Retinal anlage tumour (progonoma melanoticum) of the maxilla Acute keratomalacia with corneal perforation, retinal protrusion and expulsive haemorrhage.
The EOPS Source Index 1991 9148 Jensen O A Alagille s syndrome (arteriohepatic dysplasia) hepatocellularcarcinoma associated with the syndrome in a 4- year old girl http://www.helsinki.fi/laak/silk/perus/EOPS1991.html
Extractions: Go to Home Previous Next 60's ... Notes Jakobiec F A Adult extra-renal rhabdoid tumor of the lacrimal gland Hidayat A A Congenital malignant rhabdoid tumor of the eye and orbit Garner A Lacrimal gland myoepithelioma Friedman A H Fibrous histiocytoma of the lacrimal sac Lee W R Malignant fibrous histiocytoma of orbit: infarction of optic nerve Kock E Chondroma of the orbit Font R L Recurrent well differentiated orbital liposarcoma with myxoid areas occurring in a teenager Tarkkanen A Malignant fibrous histiocytoma of the orbit with spontaneous resolution Latkovic Z Orbital carcinoma of unknown origin - a case for diagnosis Prause J U Castleman's disease in one orbit Goder G J Kimura's disease of the orbit McLean I Primary histiocytoid carcinoma of the eyelid Boniuk M Unusual bluish tumors of the eyelid and conjunctiva: angioleiomyoma and glomangioma Sterkers M An atypical case of tumour of the eyebrow: melanoma or sarcoma? Mullaney J Conjunctival nodule with testicular tumour Conjunctival malignant melanoma Frayer W C Granulomatous conjunctivitis Ferry A P Teddy bear granuloma of conjunctiva (synthetic fiber granuloma) Manschot W A Not-predictable melanoma reaction on empirical radiation doses Naeser P Proton beam treated malignant melanoma Crawford J B Spindle cell tumor of eyelid in patient with lymphoma de Wolff-Rouendaal D Ciliary body and iris metastasis of cutaneous melanoma in a patient with dysplastic naevus syndrome Albert D M Hepatoblastoma metastatic to the eye
Directory Of Open Access Journals Title, Scintigraphic progress of the liver in a patient with Alagillesyndrome (arteriohepatic dysplasia). Author, Jinguji M; Tsuchimochi S; Nakajo M; http://www.doaj.org/abstract?id=111497&toc=y
Arquivos De Gastroenterologia - The syndromic form is also termed Alagille syndrome or arteriohepatic dysplasia.It is a multisystem autosomal dominant disorder with a prevalence of http://www.scielo.br/scielo.php?pid=S0004-28032004000300010&script=sci_arttext&t
Extractions: Alagille syndrome is a genetic liver disorder usually present at birth. It is characterized by insufficient passage of bile due to a lower than normal number of bile ducts inside the liver. In some cases, the child may be born with no bile ducts. Major symptoms include prolonged yellow skin discoloration (jaundice), eye and heart structure anomalies, abnormally shaped vertebrae of the spine, compression of nerve space inside the lower spine, an absence of deep tendon reflexes, mental deficiency, facial and kidney (renal) abnormalities, shortened fingers, and pancreatic insufficiency.
Alagille Syndrome Notes for physicians on Alagille Syndrome (arteriohepatic dysplasia, AHD) coveringdiagnosis, clinical description, differential diagnosis, management, http://omni.ac.uk/browse/mesh/D016738.html
Extractions: low graphics broader: Abnormalities, Multiple other: Angelman Syndrome Beckwith-Wiedemann Syndrome Branchio-Oto-Renal Syndrome Cockayne Syndrome ... GeneReviews : Alagille syndrome Notes for physicians on Alagille Syndrome (Arteriohepatic Dysplasia, AHD) covering diagnosis, clinical description, differential diagnosis, management, molecular genetics and genetic counselling. Revised during May 2000, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Last updated in February 2005. Alagille Syndrome / genetics
JRSM -- Table Of Contents (May 1 1989, 82 [5]) BE Monk and JP Ellis arteriohepatic dysplasia (Alagille s syndrome) withkeratoderma JR Soc Med 1989 82 297298. RA Fisken, BA Walker, PH Buxton, http://www.jrsm.org/content/vol82/issue5/
Re: Sindrome De Alagille Translate this page Who to Contact See also arteriohepatic dysplasia, Watson-Alagille Syndrome,Syndromic Hepatic Ductular Hypoplasia, Syndromic Intrahepatic Biliary http://www.mipediatra.com.mx/5foro/_5foro/000002f8.htm
Extractions: Nombre remoto: El síndrome de Allagille tambien llamado displasia arteriohepática es una enfermedad de nacimiento en la cual no se forman los conductos biliares que están en el hígado. El diagnóstico se hace por la biopsia del hígado. Las manifestaciones clínicas asociadas a éste síndrome, aunque son variables son: rasgos faciales extraños como ojos hundidos y separados, frente amplia, nariz larga y recta y mandíbula poco desarrollada. Puede haber anomalías oculares, anomalías cardiovasculares como la estenosis pulmonar y la tetralogía de Fallot, defectos de las vértebras, alteraciones renales o nefropatías, retrazo del crecimiento. El pronóstico para la vida es favorable pero se pueden presentar complicaciones del sistema nervioso, y unos tumores llamados xantomas. Puede haber déficit de vitamina E. A continuación hay una lista de sitios en donde puede encontrar información, desgraciadamente la mayoria son en inglés. The Alagille Syndrome Alliance Worldwide Web Site!
Alagilles Syndrom - Små Och Mindre Kända Handikappgrupper arteriohepatic dysplasia and cardiovascular malformations. Wolfish NM, Shanon A.Nephropathy in arteriohepatic dysplasia (Alagille syndrome). http://www.sos.se/smkh/1998-29-079/1998-29-079.HTM
Extractions: Version: 2.2 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Orsak till sjukdomen/skadan Alagilles syndrom orsakas vanligtvis av en nymutation Praktiska tips Resurspersoner Professor Antal Nemeth, Barnmedicinska kliniken, Huddinge Universitetssjukhus, 141 86 Stockholm, tel 08-585 800 00.
CCS It may occur in tetralogy of Fallot, Williams syndrome, Noonan syndrome, VSD orarteriohepatic dysplasia. Valvar RVOTO, the most common form of RVOTO, http://www.ccs.ca/society/conferences/archives/1996/1996part-07.asp
Extractions: Canadian Consensus Conference on Adult Congenital Heart Disease 1996 Title: Section VII - Right ventricular outflow tract obstruction PART 1 - BACKGROUND INFORMATION RVOTO can occur at any level. Supravalvar RVOTO seldom occurs in isolation. It may occur in tetralogy of Fallot, Williams syndrome, Noonan syndrome, VSD or arteriohepatic dysplasia. Valvar RVOTO, the most common form of RVOTO, is almost always congenital in origin. In 15% of cases, the valve is dysplastic as well as stenotic. In adults, the valve may calcify from the fourth decade onwards. Subvalvar (infundibular) RVOTO usually occurs in combination with other lesions, particularly ventricular septal defect, and as part of tetralogy of Fallot. RVOTO (either valvar or subvalvar) may occur in association with subaortic stenosis. A separate but somewhat similar entity is ''double-cham- bered RV' with midcavity obstruction. This may be associated with a small VSD (see indications for intervention). Branch PA stenosis is not considered here.
