21. Alagille's Syndrome J. Reichen First described by Alagille in 1969, reported in the English literaturein 1975 (1). Synonyms arteriohepatic dysplasia, syndromatic ductopenia. http://www.ikp.unibe.ch/lab2/Alagille.htm

Alagille's syndrome Prof. J. Reichen First described by Alagille in 1969, reported in the English literature in 1975 (1). Synonyms: arteriohepatic dysplasia, syndromatic ductopenia. Genetics: Autosomal dominant disorder owing to mutations in the JAG1 gene on chromosome 20p12 (2;3). JAG1 codes for a NOTCH receptor ligand important in cell-cell interactions and in development. Different mutations have been described 70 % of which are sporadic (4). During embroygenesis JAG1 is expressed mainly in the cardiovascular system; in the liver it is associated with blood vessels. It is also expressed in other structures of mesenchymal origin suggesting that the variety of associated conditions are not chance associations (5). Clinical presentation, associated features: The classical syndrome consists of jaundice in early infancy, characteristic facies, pulmonary stenosis, butterfly vertebrae, growth and mental retardation and hypogonadism (1). In Emerick's series, 40 % had renal disease and stroke occurred in 14 % (6). The growth retardation is due to resistance to GH (7). Severe pruritus occurs in 45 % but can abate with age (6). Besides posterior embryotoxon a variety of other ocular anomalities have been described (8). Table 1 Frequency of main signs of Alagille's syndrome in the two largest series Alagille (9) (n= 80) Emerick (6) (n=92) Chronic cholestasis Characteristic facies Systolic murmur Butterfly vertebrae Posterior embryotoxon Other associated conditions include congenital mechanical obstruction of the small intestine (10), cystic renal disease (11), tubulo-interstitial nephropathy (12), exocrine pancreatic insufficiency (13), pancreas atrophy with diabetes mellitus (14), coproporphyrin abnormalities with photosensitivity (15).

22. Alagille's Syndrome - 5 Medicine. Alagille's Syndrome / arteriohepatic dysplasia Back (Date6/1981) - Xanthomata Compare with Alagille's Syndrome - 4. http://tray.dermatology.uiowa.edu/Alagil05.htm

Dept. of Dermatology - University of Iowa College of Medicine Alagille's Syndrome / Arteriohepatic Dysplasia - Back (Date: 6/1981) - Xanthomata Compare with Alagille's Syndrome - 4 For more information, see the American Liver Foundation and Online Mendelian Inheritance in Man (OMIM) Return to Image Index page. Return to Image Index page. Return to Dermatology's Home page. January, 1996

23. Arteriohepatic Dysplasia one click For Medical Professionals only. arteriohepatic dysplasia,,Print this article, the constellation of intrahepatic bile http://www.amershamhealth.com/medcyclopaedia/Volume VII/arteriohepatic dysplasia

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Arteriohepatic dysplasia, the constellation of intrahepatic bile duct hypoplasia, abnormal facies, pulmonary arterial hypoplasia and segmentation anomalies of the spine. It is an idiopathic disorder characterised by cholestatic jaundice, hepatomegaly and often splenomegaly. There is a nonsyndromic form of intrahepatic bile duct hypoplasia without the extrahepatic features. The natural history is for progressive liver damage leading to death in the second or third decades. In the syndromic type (see Alagille syndrome ) vertebral body abnormalities, which include butterfly and hemivertebra are present characteristically in the thoracic spine. Hepatic sonography is usually normal though a gallbladder may not be visible. There is no intrahepatic bile duct dilatation. Hepatobiliary scintigraphy reveals similar findings to that in extrahepatic biliary atresia, i.e. normal or slightly impaired hepatic uptake and no evidence of excretion of tracer into bile ducts or bowel. Differentiation from extrahepatic biliary atresia requires liver biopsy and/or cholangiography. See

24. Alagille Syndrome and butterfly vertebrae. See arteriohepatic dysplasia. HC The Encyclopaediaof Medical Imaging Volume VII. Disclaimer Legal Contact http://www.amershamhealth.com/medcyclopaedia/Volume VII/ALAGILLE SYNDROME.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Alagille syndrome, (Danielle Alagille, born 1925, French paediatrician), syndrome that typically presents with cholestatic jaundice in the neonatal period due to hypoplasia of the intralobular bile ducts. Associated abnormalities are facial dysmorphism, with a triangular face and low set ears, pulmonary stenosis and vertebral abnormalities and eye anomalies which include pigment clumping, chorioretinal atropy and posterior embryotoxon. Cytogenetic abnormalities are common. Butterfly vertebrae, or fused vertebrae are found on spinal radiographs. The liver echodensity may be increased at ultrasound examination but it is structurally normal. Radionuclide imaging shows slow bile excretion. The diagnosis is made by the demonstration of three of the five major manifestations: facial abnormalities, cholestasis, peripheral pulmonary artery stenosis or hypoplasia, posterior ocular embryotoxon and butterfly vertebrae. See

25. Harriet Lane Links 5. Alagille's Syndrome/arteriohepatic dysplasia Dermatologic Finding 5 http//tray.dermatology.uiowa.edu/Alagil05.htm0314-2000, Photograph of dermatologic http://derm.med.jhmi.edu/poi/search.cfm?PlasticSurgery=-1&SearchTitle=Plastic Su

26. Harriet Lane Links 16. Alagille's Syndrome/arteriohepatic dysplasia Dermatologic Finding 5 http//tray.dermatology.uiowa.edu/Alagil05.htm0314-2000, Photograph of dermatologic http://derm.med.jhmi.edu/poi/search.cfm?Dermatology=-1&SearchTitle=Dermatology

27. Alagille Syndrome arteriohepatic dysplasia OR ALAGILLE SYNDROME. Alagille Medicine. Alagille'sSyndrome/ arteriohepatic dysplasia Right elbow - Xanthomata. http://www.health-nexus.com/alagille_syndrome.htm

Health-Nexus.Net Health-Nexus.Org The #1 Health information site Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Alagille Syndrome Alagille Syndrome Alliance Worldwide support network for people who care about people with alagille syndrome hosted by talkcity. Children's Liver Alliance - Alagille Syndrome Contains intimate stories of this liver disease and its effect on families. Read symptoms, treatments and medical articles. Gastroenterology - Alagille Syndrome Gastroenterology. ARTERIOHEPATIC DYSPLASIA OR ALAGILLE SYNDROME. Alagille first described a syndrome consisting of a paucity of interlobular ... Alagille Syndrome / The Family Village Who to Contact. WebMD/Lycos - Article - Alagille Syndrome With Lycos, WebMD offers a comprehensive online health resource. Whether you want to get information about a medical condition, learn more about leading a healthier lifestyle, or talk to others...

28. Pharmacy Drug Index It is an anticholesterol drug used to reduce abnormally high bloodlevels of cholesterol and to treat arteriohepatic dysplasia. http://www.mythos.com/pharmacy/Index_DrugName.aspx?L=Q&P=1

29. HONselect - Alagille Syndrome English Alagille Syndrome, arteriohepatic dysplasia - Dysplasia, Arteriohepatic- arteriohepatic dysplasias - Dysplasias, Arteriohepatic - Syndrome, Alagille. http://www.hon.ch/HONselect/RareDiseases/C06.130.450.250.125.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Alagille Syndrome - Arteriohepatic Dysplasia - Dysplasia, Arteriohepatic - Arteriohepatic Dysplasias - Dysplasias, Arteriohepatic - Syndrome, Alagille Français: ALAGILL, SYNDROME - DYSPLASIE ARTERIOHEPATIQUE - SYNDROME ALAGILL Deutsch: Alagille-Syndrom - Arteriohepatische Dysplasie - Dysplasie, arteriohepatische Español: SINDROME DE ALAGILLE - DISPLASIA ARTERIOHEPATICA Português: SINDROME ALAGILE - DISPLASIA ARTERIO-HEPATICA HONselect ressources Definition: Yes Articles: Yes Images: Yes News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C06.130.450.250.125.html Last modified: Thu Jul 25 2002

30. Right Ventricular Outflow Tract Obstruction It may occur in tetralogy of Fallot, Williams syndrome, Noonan syndrome,VSD, arteriohepatic dysplasia or congenital Rubella syndrome. http://www.rbh.nthames.nhs.uk/Cardiology/Consensus/rightventricular.htm

Introduction General Recommendations Atrial Septal Defect Ventricular Septal Defect ... Coarctation of the Aorta Right Ventricular Outflow Tract Obstruction Tetralogy of Fallot Ebstein Anomaly Marfan syndrom Complete Transposition of the Great Arteries ... Management of Cyanotic Patients Appendices Appendix I - Patient who can be cared for in the Community Appendix II - Patients who should be seen at /National or Regional ACHD Centres ... Bibliography SECTION VII - RIGHT VENTRICULAR OUTFLOW TRACT OBSTRUCTION (RVOTO) Part I - Background Information Supravalvar RVOTO seldom occurs in isolation. It may occur in tetralogy of Fallot, Williams syndrome, Noonan syndrome, VSD, arteriohepatic dysplasia or congenital Rubella syndrome. Valvar RVOTO, the most common form of RVOTO, is almost always congenital in origin. Typically, the stenotic pulmonic valve is a thin, pliable, dome-shaped structure, with a narrow opening at its apex. In 10-15% of cases, the valve is dysplastic with thickened and immobile cusps. In adults, the valve may calcify late in life. Subvalvar (infundibular) RVOTO usually occurs in combination with other lesions, particularly ventricular septal defect, and as part of tetralogy of Fallot.

31. HealthScout-Health Library Syndrome Antioxidants Anxiety Aortic Aneurysms Aortic Valve Disease Aortic ValveStenosis Appendicitis arteriohepatic dysplasia Arthritis Arthroscopy http://www.healthscout.com/template.asp?page=ency&ap=1

32. ADULT CONGENITAL HEART DISEASE GLOSSARY ACHD, Adult Congenital Heart Disease. Alagille syndrome, see arteriohepatic dysplasia.ALCAPA, Anomalous left coronary artery arising from the pulmonary artery. http://www.cachnet.org/achd_a.html

aberrant innominate artery A rare abnormality associated with right aortic arch wherein the sequence of arteries arising from the aortic arch is: right carotid artery, right subclavian artery, then (left) innominate artery. The latter passes behind the esophagus. This is in contrast to the general rule that the first arch artery gives rise to the carotid artery contralateral to the side of the aortic arch (i.e.: right carotid artery in left aortic arch and left carotid artery in right aortic arch). syn . retro-esophageal innominate artery. aberrant subclavian artery The right subclavian artery arises from the aorta distal to the left subclavian artery. Left aortic arch with (retroesophageal) aberrant right subclavian artery is the most common aortic arch anomaly, first described 1735 by Hunauld, and occurring in 0.5% of the general population. absent pulmonary valve syndrome Pulmonary valvular tissue is absent, resulting in pulmonary regurgitation. This rare anomaly uncommonly may be isolated; or it may be associated with ventricular septal defect, obstructed pulmonary valve annulus and massive dilation and distortion of the pulmonary arteries. Absent pulmonary valve may also occur in association with other simple or complex congenital heart lesions. ACHD Adult Congenital Heart Disease Alagille syndrome see arteriohepatic dysplasia ALCAPA Anomalous left coronary artery arising from the pulmonary artery.

33. Alagille Watson Syndrome Alternative titles; symbols ALAGILLE WATSON SYNDROME; AWS CHOLESTASIS WITH PERIPHERALPULMONARY STENOSIS arteriohepatic dysplasia; AHD SYNDROMATIC HEPATIC http://ibis-birthdefects.org/start/alagsyn.htm

Alagille Watson Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Notice! For more about parental and patient support resources explore Support Groups . For general sources of information see Professional Associations and Information Sources AHD Alagille - Watson Syndrome Arteriohepatic Dysplasia AWS Cholestasis With Peripheral Pulmonary Artery Stenosis Syndromatic Hepatic Ductular Hypoplasia Notice: You may consider searching for Liver or Hepatic disorders Special Resources Alagille Watson Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group [Japanese] [*] [P] Alagille Syndrome from GENE Clinics by Lynn Bason, MS, et al., January 5, 2000 Clinical Finding, % of Patients: Bile duct paucity, 85% Chronic cholestasis, 96% Cardiac murmur, 97% Eye findings, 78% Vertebral anomalies, 51% Characteristic facies, 96% Renal disease, 40% Pancreatic insufficiency, 41%

34. Birth Defects - Syndromes - Malformations - Anomalies Muscle; Apraxia Manual; Arene Oxide Detoxification Defect; Arnold Chiary;Arsenic; arteriohepatic dysplasia; Arthrogryposis; Arthrogryposis http://ibis-birthdefects.org/start/drophealth.htm

Tips for printing Birth Defects - Syndromes - Malformations - Anomalies About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Notice! Special Resources Clinical Assistance By making a selection you agree to the terms of our This page Includes: fact sheets support groups Embryopathies Fetopathies The words "Syndrome", "Dysplasia", "Dystrophy" are avoided. Names - Eponyms A B C D ... Search this site powered by FreeFind Requests for additional topics 4p Monosomy 4p- Deletion 5p Monosomy 5p- Kromosom ... Search this site powered by FreeFind Requests for additional topics This site offers information mostly for educational purposes. This site is not intended to alter health care protocols nor to serve as a sole source of medical information. Please read full Always seek the advice of your local health care provider. Sponsor: I.B.I.S. Site Concept: W. W., D. C. Page Content: W. Wertelecki, M. D. Email: Webmaster 07/August/2002 R.C.

35. Syndrome DB - Table Of Contents syndrome 1 Arakawa syndrome 2 ArklessGraham syndrome arrhinia-choanal atresia-microphthalmiasyndrome arteriohepatic dysplasia (AHD) arthro-ophthalmopathia http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_a.html

Multiple Congenital Anomaly/Mental Retardation Syndromes Table of Contents Return to Entry Page A B C ... Z A Aarskog syndrome Aarskog-Scott syndrome (ASS) abdominal muscle deficiency anomalad abdominal muscle deficiency syndrome ... U.S. National Library of Medicine , 8600 Rockville Pike, Bethesda, MD 20894 National Institutes of Health Privacy Accessibility Last updated: 20 November 2001

36. Alagille Syndrome (AGS) WatsonMiller syndrome. arteriohepatic dysplasia (AHD). cardiovertebral syndrome.cholestasis-peripheral pulmonary stenosis. hepatic ductular hypoplasia. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome017.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Alagille syndrome (AGS) Synonyms Alagille-Watson syndrome (AWS) Watson-Miller syndrome arteriohepatic dysplasia (AHD) cardiovertebral syndrome cholestasis-peripheral pulmonary stenosis hepatic ductular hypoplasia hepatic ductular hypoplasia-multiple malformations syndrome hepatofacioneurocardiovertebral syndrome paucity of interlobular bile ducts (PILBD) Summary Intrahepatic cholestasis caused by paucity of interlobular bile ducts associated with cardiovascular and other anomalies. Major abnormalities include characteristic facies (prominent forehead, deeply set eyes, hypertelorism, straight nose, and pointed chin) sometimes referred to as cholestasis facies, hoarse voice, and a wide variety of other disorders. Moderate mental retardation occurs in about 15 %. Cerebrovascular complications may include the moyamoya syndrome (progressive obliteration of the intracranial carotid arteries and formation of an extensive vascular network of dilated small branches. The disorder was first reported in Japanese children, and the angiographic appearance of thus formed fine network was described by the Japanese expression "moyamoya," meaning "something hazy, like a puff of smoke drifting in the air," as seen on the radiograph). Major Features Head and neck: Prominent forehead, dysmorphic flat midface, prognathism, and pointed chin.

37. Daniel Alagille (www.whonamedit.com) M. Gautier, M. Odièvre, JP Dommergues Syndromic paucity of interlobular bileducts (Alagille syndrome or arteriohepatic dysplasia) review of 80 cases. http://www.whonamedit.com/doctor.cfm/153.html

Home List categories Eponyms A-Z Biographies by country ... Contact Daniel Alagille French paediatrician, born January 24, 1925, Paris. Associated eponyms: Alagille's syndrome A congenital familial syndrome marked by clinical picture with intrahepatic cholestasis, neonatal jaundice, and hepatomegaly. Biography: Daniel Alagille in 1954 graduated from the University of Paris, where he also obtained a diploma in biochemistry. From 1954 to 1964 he worked in the Hôpial Saint-Vincent-de Paul and was appointed associate professor in 1963. He as elevated to full professor of paediatrics and clinical genetics at the Université Paris-Sud in 1971, also being staff physician and chairman of the department of paediatrics, Hôpital de Bicêtre, where he founded a paediatric liver unit. From 1964 he was chief of the paediatric liver research unit of the Institut National de la Santé et de la Recherche. He remained with the Hôpital de Bicêtre until his retirement in 1990. Alagille was chief editor of the Revue internationale d'hépatologie (1954-1971) and Archives françaises de pédiatrie (1964-1990). He has published more than 500 articles and several books. He became Chevalier de l'Ordre National du Mérite in 1967 and Chevalier de la Légion d'Honneur in 1988. By 1996 he was professor emeritus at the Université Paris-Sud in Bicêtre. Bibliography: D. Alagille, E. C. Habib, N. Thomasin:

38. International Society For Adult Congenital Cardiac Disease ACHD Adult Congenital Heart Disease Alagille syndrome see arteriohepatic dysplasiaALCAPA Anomalous left coronary artery arising from the pulmonary artery. http://www.isaccd.org/profres/a.php

@import url(../css/hidden.css); Become a Member Professional Resources News Jobs/Training ... Home a Find terms beginning with: A B C D ... Z Revised April 2002 Contact (email) Jack Colman: j.colman@utoronto.ca Erwin Oechslin: erwin.oechslin@dim.usz.ch Dylan Taylor: dtaylor@cha.ab.ca Purpose The purpose of this glossary is to help guide those reading and researching in the area of adult congenital heart disease. It is meant to be a living document, constantly under revision, improvement, correction, as you, its users, find ways to ease the path for those who follow. To this end, if you cannot find a term you think should be here, or if you disagree with a definition, or see a way to improve it, drop us an e-mail before you move on. We promise to consider all feedback carefully, and to make additions and revisions often. We hope you find the glossary helpful. Prepared by: Jack M. Colman MD, FRCPC, FACC Erwin Oechslin MD Dylan Taylor MD, FRCPC, FACC Job Board: Search Post Professional Resources Mar 30, 2003 aberrant innominate artery A rare abnormality associated with right aortic arch wherein the sequence of arteries arising from the aortic arch is: right carotid artery, right subclavian artery, then (left) innominate artery. The latter passes behind the esophagus. This is in contrast to the general rule that the first arch artery gives rise to the carotid artery contralateral to the side of the aortic arch (i.e.: right carotid artery in left aortic arch and left carotid artery in right aortic arch).

39. Dorlands Medical Dictionary tachycardia arising in the right ventricle. arteriohepatic dysplasia,Alagille syndrome. bronchopulmonary dysplasia, a chronic lung http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

40. Radiology Cases In Pediatric Emergency Medicine Subject Index V3C18, V3C19, V4C10, V6C18 appendicolith V3C18, V4C10, V6C18 appendicolith seriesV6C18 Apt test V2C14 arteriohepatic dysplasia V6C5 arthrocentesis ankle http://www.hawaii.edu/medicine/pediatrics/pemxray/zindex.html

SUBJECT INDEX Editors: Loren G. Yamamoto, MD, MPH Alson S. Inaba, MD Robert M. DiMauro, MD Kapiolani Medical Center For Women And Children Dept. Pediatrics, University of Hawaii John A. Burns School of Medicine 1319 Punahou Street, Honolulu, HI 96826 Return to Univ. Hawaii Dept. Pediatrics Home Page Return to the Radiology Cases In Pediatric Emergency Medicine Home Page Vol 1 - Vol 6 Index A abdominal abscess: abdominal distention: abdominal pain appendicitis: see also: appendicitis bowel obstruction - see bowel obstruction cholecystitis: imperforate hymen: intussusception: see also intussusception Meckel's diverticulitis: non-specific: leukemia: pneumonia: psoas abscess: spinal fracture: volvulus - see volvulus abdominal radiographs, series, test your skill: abscess: abdominal - see abdominal abscess prevertebral - see retropharyngeal abscess psoas - see psoas abscess retropharyngeal - see retropharyngeal abscess absent liver edge sign of intussusception: acetabular fracture: Achille's tendonitis - see Sever's disease acquired immunodeficiency syndrome - see HIV acromioclavicular (AC) injury: AIDS - see HIV airway obstruction: Alagille's syndrome: aneurysmal bone cyst: angiography: aortography - see aortogram cerebral: magnetic resonance: ankle sprain: ankle fracture: ankle radiographs, series, test your skill:

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