Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur.

Abstract

Among 30 children with hepatic ductular hypoplasia and normal extrahepatic bile ducts, 15 formed a hemogeneous, readily recognizable group. In addition to chronic cholestasis, they have characteristic facies, a mesosystolic murmur, vertebral arch defects, growth retardation, mental retardation, and hypogonadism. Typical biochemical and histologic features aid in differentiation of this group from patients with other varieties of biliary disease.

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Articles referenced by this article (17)

L'atrésie des voies biliaires intrahépatiques avec voies biliaires extrahépatiques perméables chez l'enfant
Alagille
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L'atrésie des voies biliaires intrahépatiques avec voies biliaires extrahépatiques perméables chez l'enfant
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Etude de l'excrétion fécale et urinaire du Rose bengale marqué par l'iode radioactif au cours des ictères obstructifs du nouveau-né et du nourrisson
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Jag1 insufficiency alters liver fibrosis via T cell and hepatocyte differentiation defects.
Mašek J, Filipovic I, Van Hul N, Belicová L, Jiroušková M, Oliveira DV, Frontino AM, Hankeova S, He J, Turetti F, Iqbal A, Červenka I, Sarnová L, Verboven E, Brabec T, Björkström NK, Gregor M, Dobeš J, Andersson ER
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Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.
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Association of Very Rare <i>NOTCH2</i> Variants with Clinical Features of Alagille Syndrome.
Ferrandino M, Cardiero G, Di Dato F, Cerrato Y, Vitagliano L, Mandato C, Morisco F, Spagnuolo MI, Iorio R, Di Taranto MD, Fortunato G
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Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert MA, Keefer-Jacques E, Jadhav T, Antfolk D, Ming Q, Valente N, Shaw GT, Sottolano CJ, Matwijec G, Luca VC, Loomes KM, Rajagopalan R, Hayeck TJ, Spinner NB
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Alagille syndrome with unusual common bile duct hypoplasia and gallbladder dysmorphism: Lesson based on a case report.
Farina R, Garofalo A, Valerio Foti P, Inì C, Motta C, Galioto S, Clemenza M, Ilardi A, Gavazzi L, Grippaldi D, D'Urso M, Basile A
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https://en.wikipedia.org/wiki/Alagille_syndrome

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Diseases in OMIM

ALAGILLE SYNDROME 1; ALGS1(OMIM - 118450)

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Protein jagged-1(UniProt - P78504)
Neurogenic locus notch homolog protein 2(UniProt - Q04721)

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Abstract

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References

L'atrésie des voies biliaires intrahépatiques avec voies biliaires extrahépatiques perméables chez l'enfant

L'atrésie des voies biliaires intrahépatiques avec voies biliaires extrahépatiques perméables chez l'enfant

Etude de l'excrétion fécale et urinaire du Rose bengale marqué par l'iode radioactif au cours des ictères obstructifs du nouveau-né et du nourrisson

Lipoprotéines sériques et atrésie des voies biliaires intrahepatiques chez l'enfant

Hormonal changes in puberty. I. Correlation of serum luteinizing hormone and follicle stimulating hormone with stages of puberty, testicular size, and bone age in normal boys.

Studies on testicular function in children: plasma concentrations of testosterone, dehydroepiandrosterone and its sulfate before and after stimulation with human chorionic gonadotrophin. (1).

Tentatives chirurgicales au cours des atrésies des voies biliaires intrahépatiques avec voie biliaire extrahépatique perméable

Observations on the natural history of pulmonary artery coarctations.

Courtecuisse V, Girard F, Limal JM, and Dommergues JP: Statural growth, skeletal and endocrine abnormalities in hepatic ductular hypolasia in children (11 case reports), submitted for publication.

Xanthomatous biliary cirrhosis; a clinical syndrome.

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Smart citations by scite.ai
Explore citation contexts and check if this article has been supported or disputed.
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Article citations

Jag1 insufficiency alters liver fibrosis via T cell and hepatocyte differentiation defects.

Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.

Association of Very Rare <i>NOTCH2</i> Variants with Clinical Features of Alagille Syndrome.

Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.

Alagille syndrome with unusual common bile duct hypoplasia and gallbladder dysmorphism: Lesson based on a case report.

Other citations

Wikipedia

Data

Data that cites the article

Diseases in OMIM

Proteins in UniProt (2)

Reactome

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