Alagille syndrome: Prenatal sonographic findings

Ghidini, Alessandro; Incerti, Maddalena; Andreani, Marianna

doi:10.1002/jcu.20292

Cited by 12 publications

(4 citation statements)

References 7 publications

(7 reference statements)

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“…Therefore, the timing of the development of the liver abnormality is not fully understood. Previously, an aborted fetus with ALGS was found to have paucity of intrahepatic bile duct at gestational age 22 weeks [Alessandro et al, ], but the mouse model of ALGS due to Jag1 and Notch2 double knock out revealed the absence of liver pathology during embryogenesis [Lozier et al, ]. Hence, liver pathology associated with ALGS probably emerges during the second trimester, when the discordance between twins was detected.…”

Section: Discussionmentioning

confidence: 99%

Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non‐genetic factors

Izumi

Hayashi

Grochowski

et al. 2015

American J of Med Genetics Pt A

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Alagille syndrome is a multisystem developmental disorder characterized by bile duct paucity, congenital heart disease, vertebral anomalies, posterior embryotoxon, and characteristic facial features. Alagille syndrome is typically the result of germline mutations in JAG1 or NOTCH2 and is one of several human diseases caused by Notch signaling abnormalities. A wide phenotypic spectrum has been well documented in Alagille syndrome. Therefore, monozygotic twins with Alagille syndrome provide a unique opportunity to evaluate potential phenotypic modifiers such as environmental factors or stochastic effects of gene expression. In this report, we describe an Alagille syndrome monozygotic twin pair with discordant placental and clinical findings. We propose that environmental factors such as prenatal hypoxia may have played a role in determining the phenotypic severity.

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Section: Discussionmentioning

confidence: 99%

Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non‐genetic factors

Izumi

Hayashi

Grochowski

et al. 2015

American J of Med Genetics Pt A

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“…Commonly reported prenatal features of ALGS from eight case reports include IUGR in 75% of cases, cardiac anomalies (three cases, TOF in two and severe pulmonary stenosis in one), and hemivertebrae and two-vessel cord in two cases [ 78 – 81 , 88 , 89 ]. Other reported features include severe lumbosacral kyphoscoliosis, absent gallbladder, prominent chin, and prominent stomach with ascites [ 80 , 90 ]. Fetuses suspected of having ALGS should receive detailed cardiac imaging (fetal echocardiography or MRI).…”

Section: Alagille Syndrome and Pregnancymentioning

confidence: 99%

Management of adults with Alagille syndrome

et al. 2023

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Alagille syndrome (ALGS) is a complex rare genetic disorder that involves multiple organ systems and is historically regarded as a disease of childhood. Since it is inherited in an autosomal dominant manner in 40% of patients, it carries many implications for genetic counselling of patients and screening of family members. In addition, the considerable variable expression and absence of a clear genotype–phenotype correlation, results in a diverse range of clinical manifestations, even in affected individuals within the same family. With recent therapeutic advancements in cholestasis treatment and the improved survival rates with liver transplantation (LT), many patients with ALGS survive into adulthood. Although LT is curative for liver disease secondary to ALGS, complications secondary to extrahepatic involvement remain problematic lifelong. This review is aimed at providing a comprehensive review of ALGS to adult clinicians who will take over the medical care of these patients following transition, with particular focus on certain aspects of the condition that require lifelong surveillance. We also provide a diagnostic framework for adult patients with suspected ALGS and highlight key aspects to consider when determining eligibility for LT in patients with this syndrome.

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“…A few case reports have documented the prenatal findings in ALGS using a detailed ultrasound scan, including fetal hemi vertebrae in the lower thoracic region, cardiac changes, and absent gallbladder, in a fetus with JAG1 mutation 10 ( Figure 1A–C ).…”

Section: Systemic Manifestations and Clinical Descriptionmentioning

confidence: 99%

Alagille syndrome: clinical perspectives

Saleh¹,

Kamath²,

Chitayat³

2016

TACG

104

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Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome.

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Alagille syndrome: Prenatal sonographic findings

Cited by 12 publications

References 7 publications

Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non‐genetic factors

Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non‐genetic factors

Management of adults with Alagille syndrome

Alagille syndrome: clinical perspectives

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