Biomaterial Database

Biliary hypoplasia in Williams syndrome. 2006

K O'Reilly, and S F Ahmed, and V Murday, and P McGrogan

Royal Hospital for Sick Children, Glasgow, UK. oreillykmor@yahoo.co.uk

Neonatal hepatitis and biliary hypoplasia are not recognised features of Williams syndrome. A case of Williams syndrome, presenting with neonatal conjugated hyperbilirubinaemia leading to an initial misdiagnosis is reported.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008099	Liver	A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.	Livers
D008297	Male		Males
D003951	Diagnostic Errors	Incorrect or incomplete diagnoses following clinical or technical diagnostic procedures.	Diagnostic Blind Spots,Errors, Diagnostic,Misdiagnosis,Blind Spot, Diagnostic,Blind Spots, Diagnostic,Diagnostic Blind Spot,Diagnostic Error,Error, Diagnostic,Misdiagnoses
D004549	Elastin		alpha-Elastin,kappa-Elastin,alpha Elastin,kappa Elastin
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006932	Hyperbilirubinemia	A condition characterized by an abnormal increase of BILIRUBIN in the blood, which may result in JAUNDICE. Bilirubin, a breakdown product of HEME, is normally excreted in the BILE or further catabolized before excretion in the urine.	Bilirubinemia,Bilirubinemias,Hyperbilirubinemias
D001659	Biliary Tract	The BILE DUCTS and the GALLBLADDER.	Biliary System,Biliary Tree,System, Biliary,Tract, Biliary,Tree, Biliary
D016738	Alagille Syndrome	A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).	Arteriohepatic Dysplasia,Dysplasia, Arteriohepatic,Alagille Syndrome 1,Alagille Syndrome 2,Alagille Watson Syndrome,Alagille's Syndrome,Alagille-Watson Syndrome,Arteriohepatic Dysplasia (AHD),Cardiovertebral Syndrome,Cholestasis with Peripheral Pulmonary Stenosis,Hepatic Ductular Hypoplasia,Hepatic Ductular Hypoplasia, Syndromatic,Hepatofacioneurocardiovertebral Syndrome,Paucity of Interlobular Bile Ducts,Watson Alagille Syndrome,Watson Miller Syndrome,Watson-Miller syndrome,Alagilles Syndrome,Ductular Hypoplasia, Hepatic,Dysplasia, Arteriohepatic (AHD),Hypoplasia, Hepatic Ductular,Syndrome, Alagille,Syndrome, Alagille Watson,Syndrome, Alagille's,Syndrome, Alagille-Watson,Syndrome, Cardiovertebral,Syndrome, Hepatofacioneurocardiovertebral,Syndrome, Watson Alagille,Syndrome, Watson Miller,syndrome, Watson-Miller
D017404	In Situ Hybridization, Fluorescence	A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.	FISH Technique,Fluorescent in Situ Hybridization,Hybridization in Situ, Fluorescence,FISH Technic,Hybridization in Situ, Fluorescent,In Situ Hybridization, Fluorescent,FISH Technics,FISH Techniques,Technic, FISH,Technics, FISH,Technique, FISH,Techniques, FISH

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