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41. Zangger
Halvorsen RA Jr; Garrity S; Kuni C; du Cret RP; Letourneau JG; Bloomer J arteriohepatic dysplasia (Alagille s syndrome) unusual hepatic architecture and
http://radiologie-dijon.chez.tiscali.fr/Biblio/Halvorsen.htm
Halvorsen RA Jr; Garrity S; Kuni C; du Cret RP; Letourneau JG; Bloomer J Arteriohepatic dysplasia (Alagille's syndrome): unusual hepatic architecture and function. Abdom Imaging 1995 May-Jun;20(3):191-6
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42. Daniel Alagille (www.whonamedit.com)
M. Gautier, M. Odièvre, JP Dommergues Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia) review of 80 cases.
http://www.whonamedit.com/doctor.cfm/153.html

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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.

43. Alagille's Syndrome (www.whonamedit.com)
Bibliography GH Watson, V. Miller arteriohepatic dysplasia. Familial pulmonary artery stenosis with neonatal liver disease. Archives of Disease in Childhood.
http://www.whonamedit.com/synd.cfm/729.html

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Alagille's syndrome Also known as:
Watson-Miller syndrome
Synonyms: Arterio-hepatic dysplasia, cardiovertebral syndrome, cholestasis-peripheral pulmonary stenosis, cholestasis-pulmonary artery stenosis, cholestasis with peripheral pulmonary stenosis, hepatic ductular hypoplasia, hepatic ductal hypoplasia-multiple malformations syndrome, hepatofacial-neurocardiac-vertebral syndrome, cholestasis-pulmonary artery stenosis syndrome, hepatofacioneurocardiovertebral syndrome, paucity of interlobular ducts. Associated persons: Daniel Alagille V. Miller Geoffrey H. Watson Description: A congenital familial syndrome with onset during first three months of life, affecting both sexes. Marked by clinical picture with intrahepatic cholestasis due to hypoplasia of the interlobular biliary duct, neonatal jaundice, hepatomegaly (from 3rd month). Long list of symptoms include dysmorphic (flat) facies sometimes referred to as cholestasis facies, with prominent forehead, mongoloid slant, mild hypertelorism, straight or bulbous nose, and skeletal anomalies; occasionally diffuse xanthomas (palms, extensor areas, creases), and pruritus, Harsh mesosystolic murmur. Growth and mental retardation. In males, hypogonadism. Etiology unknown. Inheritance is autosomal dominant with reduced penetrance and variable expressivity.

44. Alagille Syndrome
Alagille Syndrome. arteriohepatic dysplasia; Dysplasia, Arteriohepatic; arteriohepatic dysplasias; Dysplasias, Arteriohepatic; Syndrome, Alagille.
http://medical.webends.com/kw/Alagille Syndrome
Medical.WebEnds.com - Medical Terminology Dictionary
A B C D ... Z
WWW Medical.WebEnds.com
Alagille Syndrome
Arteriohepatic Dysplasia; Dysplasia, Arteriohepatic; Arteriohepatic Dysplasias; Dysplasias, Arteriohepatic; Syndrome, Alagille Hypoplasia of the hepatic ducts, congenital pulmonary artery stenosis, facial abnormalities , and other congenital malformations, particularly skeletal. It is often presented as jaundice during the neonatal period. It is an autosomal recessive disease generally manifesting during childhood. "Arteriohepatic" refers to the pulmonary artery and the intrahepatic bile ducts, not to the hepatic artery
Google links
The Official Website of the ... Alliance
http://www.alagille.org/ Syndrome
http://tray.dermatology.uiowa.edu/Alagil01.htm Syndrome
http://tray.dermatology.uiowa.edu/Alagil05.htm GeneReviews: Alagille Syndrome
http://www.geneclinics.org/profiles/alagille/ Alagille Syndrome
http://www.cincinnatichildrens.org/health/info/liver/diagnoses/alagille.htm syndrome
http://www.ikp.unibe.ch/lab2/Alagille.htm

45. Alagille Watson Syndrome
Alagille Syndrome, sometimes called arteriohepatic dysplasia, is an autosomal dominant disease with highly variable expressivity.
http://ibis-birthdefects.org/start/alagsyn.htm
Alagille Watson Syndrome
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... 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%

46. Birth Defects - Syndromes - Malformations - Anomalies
Muscle; Apraxia Manual; Arene Oxide Detoxification Defect; Arnold Chiary; Arsenic; arteriohepatic dysplasia; Arthrogryposis; Arthrogryposis
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47. 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
Home Introduction General Recommendations Atrial Septal Defect ... 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
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Adult Congenital Heart Unit

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. A separate but somewhat similar entity is "double-chambered right ventricle" with mid-cavity obstruction, often from a prominent moderator band. This may be associated with a VSD.

48. Alagilles Syndrom - Små Och Mindre Kända Handikappgrupper
Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia) review of 80 cases. J Pediatr 1987; 110 195200.
http://www.sos.se/smkh/1998-29-079/1998-29-079.HTM
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Alagilles syndrom
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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.
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Alagilles syndrom orsakas vanligtvis av en nymutation
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Resurspersoner Professor Antal Nemeth, Barnmedicinska kliniken, Huddinge Universitetssjukhus, 141 86 Stockholm, tel 08-585 800 00.

49. .: In There, Always There, RadioThere :.
Bone dysplasia overran. That shall arteriohepatic dysplasia by against. These atrio digitalis dysplasia your. Cemental dysplasia periapical forward.
http://www.radiothere.net/?w=dysplasia

50. PharmGKB: Alagille Syndrome
Alternate Names arteriohepatic dysplasia; arteriohepatic dysplasias; Dysplasia, Arteriohepatic; Dysplasias, Arteriohepatic; Syndrome, Alagille.
http://www.pharmgkb.org/do/serve?objId=PA446376&objCls=Disease

51. 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.

52. Radiology Cases In Pediatric Emergency Medicine Subject Index
V3C18, V3C19, V4C10, V6C18 appendicolith V3C18, V4C10, V6C18 appendicolith series V6C18 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:

53. Radiology In Ped Emerg Med, Vol 6, Case 5
What bony abnormality is present? Teaching Points 1) Alagille syndrome (arteriohepatic dysplasia) is characterized by a paucity of intrahepatic bile ducts.
http://www.hawaii.edu/medicine/pediatrics/pemxray/v6c05.html
Elbow Swelling In a 2 Year Old With Liver Disease
Radiology Cases in Pediatric Emergency Medicine
Volume 6, Case 5
Donna Mendez, MD
Children's Medical Center of Dallas
University of Texas Southwestern School of Medicine
The radiograph demonstrates a healing right radial midshaft fracture. Also noted are multiple lytic lesions with cortical scalloping along the metaphysis and diaphysis of the forearm bones with generalized severe demineralization. A long bone survey is obtained. View his lower extremity radiographs. View femur radiographs. View tibia radiographs. Return to Radiology Cases In Ped Emerg Med Case Selection Page
Return to Univ. Hawaii Dept. Pediatrics Home Page

Web Page Author:
Loren Yamamoto, MD, MPH
Professor of Pediatrics University of Hawaii John A. Burns School of Medicine Loreny@hawaii.edu

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

55. Mental Retardation, Directory
Alagille Syndrome, eMedicine, Ann Scheimann Alagille Watson Syndrome, IBIS arteriohepatic dysplasia (Alagille Syndrome), The Transplant Center JAG1, CancerGene
http://www.saunalahti.fi/kup/engl/directory.htm
Finnish Information Center on Mental Retardation
English links
A B C D ... Z
Aarskog Syndrome
Aarskog syndrome,OMIM
Aarskog syndrome, MedlinePlus

Aarskog syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes

Aarskog Syndrome, The Family Village
Abidi X-linked Mental Retardation Syndrome
ABIDI X-LINKED MENTAL RETARDATION SYNDROME, OMIM
X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21, PubMed

XLMR Update, Greenwood Genetic Center
Absence of the septum pellucidum with porencephalia
absence of septum pellucidum with porencephalia syndrome (SASPP), Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
Absence of the septum pellucidum with porencephalia. A neuroradiologic syndrome with variable clinical expressions, Archives of Neurolgy
Acrodysostosis (Arkless-Graham syndrome)
acrodysostosis, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
Acrodysostosis, UNIVERSITY OF MARYLAND MEDICINE

ACRODYSOSTOSIS, OMIM

Acrodysostosis, NORD
...
Arkless-Graham syndrome (www.whonamedit.com)
Adams-Oliver syndrome
Adams-Oliver syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes

56. Dy : On Medical Dictionary Online
Spastic Dysphonias, Spastic Pseudobulbar Dysplasia Epiphysialis Punctata Dysplasia, Anhidrotic Ectodermal Dysplasia, arteriohepatic dysplasia, Branchio
http://www.online-medical-dictionary.org/?q=~Dy

57. JMG Online -- Table Of Contents (24 [10])
616620. Abstract. The Alagille syndrome (arteriohepatic dysplasia) RF Mueller J Med Genet 1987; 24 621-626. Brachmann-de Lange
http://jmg.bmjjournals.com/content/vol24/issue10/index.shtml

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58. J Med Genet -- Abstracts: Krantz Et Al. 34 (2): 152
Also referred to as the Alagille Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice
http://jmg.bmjjournals.com/cgi/content/abstract/34/2/152

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Journal of Medical Genetics, 1997, Vol 34, 152-157
ARTICLES
Alagille syndrome
ID Krantz, DA Piccoli and NB Spinner
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA 19104, USA. Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille- Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac malformations

59. Alagille Syndrome Today
Riely CA, Cotlier E, Jensen PS, Klatskin G. arteriohepatic dysplasia a benign syndrome of intrahepatic cholestasis with multiple organ involvement.
http://collection.nlc-bnc.ca/100/201/300/cdn_medical_association/cim/vol-19/0325
Alagille syndrome today
Daniel Alagille, MD Clin Invest Med Paper reprints may be obtained from: Dr. Daniel Alagille, 75 Denfert-Rochereau, 75014 Paris, France; fax 33 1 43 54-2590
Contents
Abstract
A genetic syndrome causing paucity of interlobular bile ducts (Alagille syndrome) is characterized by five main characteristics: typical, peculiar facies; chronic cholestasis; posterior embryotoxon; butterfly-like vertebral-arch defects; and cardiovascular malformations. In the complete form of the syndrome, all five features are observed. Four or less of these characteristics are present in the incomplete or partial forms of this syndrome. Other, less frequent characteristics (growth retardation, mental retardation, renal and bone abnormalities as well as a high-pitched voice) have also been observed. An autosomal dominant mode of genetic transmission with variable penetrance seems likely. Therapy consists of nutritional supplementation of medium-chain triglycerides, essential fatty acids and fat-soluble vitamins. Liver transplantation has been used successfully to treat patients with liver failure, portal hypertension or severe pruritus and xanthomatosis.
Table of contents
Introduction
This syndrome, characterized by the association of five major groups of features, was gradually identified over 15 years. In 1965 Smith, Optiz and Inhorn1 described intrahepatic biliary dysgenesis associated with polycystic kidneys and cardiac anomalies. In 1969 I and my colleagues Habib and Thomasin[2] reported 25 cases of intrahepatic biliary hypoplasia and cardiac and vertebral malformations associated with a peculiar facies. The syndrome was better defined in 1975,[3] and the view that it is a specific entity was further strengthened by the description of posterior embryotoxon in 1979 by Riely and associates.[4]

60. The EOPS Author Index - J
9148 Alagille s syndrome (arteriohepatic dysplasia) hepatocellular carcinoma associated with the syndrome in a 4-year old girl;
http://www.helsinki.fi/laak/silk/perus/EOPSAUTJ.html
The EOPS Author Index
Go to Home A B C ... Notes
Alphabetical List of All Members and Guests Alphabet J
Jakobiec, Frederick A.
Joint meeting, 1986
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Joint meeting, 1991
Joint meeting, 1996
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New York, New York, U.S.A.
Massachusetts Eye and Ear Infirmary
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
    Jensen, Ove A.
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    Ordinary Member

    Corresponding Secretary

    Organising Secretary

    Emeritus Member, 1994

    Rigshospitalet Copenhagen, Denmark
  • Pseudoepitheliomatous hyperplasia of the retinal pigment epithelium
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  • Retinal anlage tumour (progonoma melanoticum) of the maxilla
  • Acute keratomalacia with corneal perforation, retinal protrusion and expulsive haemorrhage.
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